diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index ef4cf74a6a..eaf4ab4b01 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -2142,7 +2142,7 @@ xref: Orphanet:391408 {source="OMIM:616033"} xref: UMLS:C4014997 {source="MEDGEN:863434", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0800450 {source="OMIM:616033"} ! microcephaly, short stature, and impaired glucose metabolism relationship: excluded_subClassOf MONDO:0018320 {source="Orphanet:391408/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! primary microcephaly-mild intellectual disability-young-onset diabetes syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28403 {source="MONDO:mim2gene_medgen"} ! TRMT10A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28403 {source="OMIM:616033"} [Term] id: MONDO:0000209 @@ -12073,7 +12073,6 @@ xref: Orphanet:1496 {source="DOID:0060600", source="DOID:0090003", source="MONDO xref: SCTID:702439002 {source="MONDO:equivalentTo"} xref: UMLS:C0795950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162893"} is_a: MONDO:0005559 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10914 {source="MONDO:mim2gene_medgen"} ! SLC12A6 [Term] id: MONDO:0000903 @@ -12172,8 +12171,8 @@ xref: Orphanet:217656 {source="OMIM:615616"} xref: UMLS:C3810138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816468"} is_a: MONDO:0016342 {source="DOID:0110084", source="MONDO:Redundant", source="OMIM:615616", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2511 ! CTNNA3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2511 {source="MONDO:mim2gene_medgen"} ! CTNNA3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2511 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2511 {source="OMIM:615616"} [Term] id: MONDO:0000909 @@ -12199,6 +12198,7 @@ xref: Orphanet:89938 {source="OMIM:613090"} xref: UMLS:C4310805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934772"} is_a: MONDO:0015231 {source="DOID:0110146", source="MONDO:0000909/inferred", source="MONDO:Redundant", source="OMIM:613090"} ! Bartter syndrome is_a: MONDO:0019524 {source="Orphanet:89938", source="https://orcid.org/0000-0001-5208-3432"} ! Bartter syndrome type 4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2026 {source="OMIM:613090"} [Term] id: MONDO:0000910 @@ -12288,7 +12288,6 @@ xref: UMLS:C2674219 {source="MEDGEN:436112", source="MONDO:equivalentTo", source is_a: MONDO:0019350 {source="DOID:0110917", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis intersection_of: MONDO:0019350 ! hereditary spherocytosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11274 ! SPTB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11274 {source="MONDO:mim2gene_medgen"} ! SPTB [Term] id: MONDO:0000914 @@ -15165,6 +15164,7 @@ is_a: MONDO:0002516 {source="DOID:10534", source="ICD10CM:C16", source="MONDO:Re is_a: MONDO:0021085 {source="MONDO:Redundant", source="NCIT:C9331"} ! gastric neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000945 ! stomach +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5992 {source="OMIM:613659"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -33388,6 +33388,7 @@ xref: SCTID:66344007 {source="DOID:1470"} xref: UMLS:C1269683 {source="MEDGEN:266123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002050 {source="DOID:1470", source="MESH:D003865", source="NCIT:C35094"} ! depressive disorder is_a: MONDO:0005084 {source="EFO:0003761", source="EFO:0003761/inferred"} ! mental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3721 {source="OMIM:608516"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -69710,6 +69711,7 @@ is_a: MONDO:0003008 {source="DOID:6163", source="MONDO:Redundant", source="NCIT: is_a: MONDO:0017884 {source="MONDO:Redundant", source="NCIT:C9222"} ! papillary renal cell carcinoma intersection_of: MONDO:0017884 ! papillary renal cell carcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9343 {source="OMIM:605074"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -84309,7 +84311,7 @@ xref: SCTID:20307000 {source="MONDO:equivalentTo", source="DOID:8454"} xref: SCTID:267492001 {source="DOID:8454"} xref: UMLS:C0035528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20573"} is_a: MONDO:0006873 {source="DOID:8454"} ! nutritional deficiency disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30225 {source="MONDO:mim2gene_medgen"} ! SLC52A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30225 {source="OMIM:615026"} [Term] id: MONDO:0004574 @@ -119858,6 +119860,7 @@ xref: OMIM:223100 {source="MONDO:equivalentTo"} xref: Orphanet:319681 {source="MONDO:equivalentObsolete"} xref: UMLS:C0268181 {source="MEDGEN:75659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100345 {source="EFO:1000063"} ! lactose intolerance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6949 {source="OMIM:223100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -139969,7 +139972,7 @@ xref: SCTID:5187006 {source="MONDO:equivalentTo"} xref: UMLS:C0033770 {source="MEDGEN:18718", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="DOID:0060889", source="MONDO:Redundant", source="NCIT:C85033"} ! syndromic disease is_a: MONDO:0018559 {source="Orphanet:2970"} ! fetal lower urinary tract obstruction -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1952 {source="MONDO:mim2gene_medgen"} ! CHRM3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1952 {source="OMIM:100100"} [Term] id: MONDO:0007033 @@ -140144,7 +140147,6 @@ is_a: MONDO:0019685 {source="Orphanet:15", source="PMID:31633310"} ! FGFR3-relat relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007037 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0003510 ! Severe short stature relationship: excluded_subClassOf MONDO:0018232 {source="Orphanet:15", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with micromelia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8173/achondroplasia" xsd:anyURI {source="GARD:0008173"} @@ -140215,7 +140217,6 @@ xref: UMLS:C0027832 {source="MEDGEN:18014", source="MONDO:equivalentTo", source= is_a: MONDO:0021061 {source="NCIT:C3274"} ! neurofibromatosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007039 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:101000", source="Orphanet:637"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7773 {source="MONDO:mim2gene_medgen"} ! NF2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7834" xsd:anyURI [Term] @@ -140288,7 +140289,6 @@ is_a: MONDO:0019796 {source="NCIT:C99099", source="Orphanet:87"} ! acrocephalosy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007041 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0000486 ! Strabismus relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 {source="MONDO:mim2gene_medgen"} ! FGFR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI @@ -140416,7 +140416,6 @@ xref: Orphanet:950 {source="OMIM:101800"} xref: UMLS:C3276228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477858"} is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia is_a: MONDO:0019797 {source="DC-OMIM:101800", source="OMIM:101800"} ! acrodysostosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9388 {source="MONDO:mim2gene_medgen"} ! PRKAR1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI @@ -140544,7 +140543,6 @@ xref: SCTID:400085009 {source="MONDO:equivalentTo"} xref: UMLS:C0265971 {source="MEDGEN:75589", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000001 {source="Orphanet:79151", source="Orphanet:79151/inferred"} ! disease is_a: MONDO:0006566 {source="DOID:0050606", source="EFO:1000666"} ! keratosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/812 {source="MONDO:mim2gene_medgen"} ! ATP2A2 [Term] id: MONDO:0007049 @@ -140555,7 +140553,6 @@ xref: MESH:C566322 {source="MONDO:equivalentTo"} xref: OMIM:102000 {source="MONDO:equivalentTo"} xref: UMLS:C1863342 {source="MEDGEN:350143", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/358 {source="MONDO:mim2gene_medgen"} ! AIP [Term] id: MONDO:0007050 @@ -140680,7 +140677,6 @@ xref: Orphanet:969 {source="OMIM:102370", source="MONDO:equivalentTo"} xref: SCTID:254090007 {source="MONDO:equivalentTo"} xref: UMLS:C0265287 {source="MEDGEN:78549", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019695 {source="Orphanet:969", source="PMID:31633310"} ! acromelic dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia" xsd:anyURI {source="GARD:0000007"} @@ -140750,7 +140746,6 @@ is_a: MONDO:0005554 {source="Orphanet:955"} ! rheumatic disorder is_a: MONDO:0007056 {source="MESH:C535663"} ! acroosteolysis is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:102500", source="Orphanet:955"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7882 {source="MONDO:mim2gene_medgen"} ! NOTCH2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type" xsd:anyURI {source="GARD:0000508"} @@ -140835,9 +140830,9 @@ is_a: MONDO:0004983 {source="DC-OMIM:102530", source="MONDO:Redundant", source=" is_a: MONDO:0015746 {source="DOID:0070167", source="Orphanet:171709/btnt"} ! male infertility due to globozoospermia intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29935 ! SPATA16 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29935 ! SPATA16 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29935 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29935 {source="MONDO:mim2gene_medgen"} ! SPATA16 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29935 {source="MONDO:mim2gene_medgen"} ! SPATA16 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29935 {source="OMIM:102530"} [Term] id: MONDO:0007061 @@ -140940,7 +140935,6 @@ is_a: MONDO:0017855 {source="Orphanet:277", source="PMID:31953710"} ! T-B- sever is_a: MONDO:0019236 {source="Orphanet:277"} ! inborn disorder of purine metabolism is_a: MONDO:0031520 {source="DC-OMIM:102700", source="DOID:5810", source="MESH:C531816", source="MONDO:Redundant", source="NCIT:C3962", source="OMIM:102700", source="Orphanet:277/inferred"} ! familial severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007064 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/186 {source="MONDO:mim2gene_medgen"} ! ADA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4200" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5748/adenosine-deaminase-deficiency" xsd:anyURI {source="GARD:0005748"} @@ -140988,7 +140982,6 @@ xref: MESH:C566310 {source="EFO:0005840", source="MONDO:equivalentTo"} xref: OMIM:102900 {source="EFO:0005840", source="MONDO:equivalentTo"} xref: UMLS:C1863224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350114"} is_a: MONDO:0016789 {source="EFO:0005840"} ! pyruvate metabolism disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9020 {source="MONDO:mim2gene_medgen"} ! PKLR [Term] id: MONDO:0007068 @@ -141027,7 +141020,7 @@ intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0070626 ! (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007068 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/291 {source="MONDO:mim2gene_medgen"} ! ADSL +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/291 {source="OMIM:103050"} [Term] id: MONDO:0007069 @@ -141131,7 +141124,6 @@ relationship: disease_has_feature HP:0002164 ! Nail dysplasia relationship: disease_has_feature HP:0003187 ! Breast hypoplasia relationship: disease_has_feature HP:0008070 ! Sparse hair relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:103285", source="Orphanet:978"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 {source="MONDO:mim2gene_medgen"} ! TP63 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -141257,7 +141249,6 @@ xref: SCTID:403805009 {source="MONDO:equivalentTo"} xref: UMLS:C0391816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98213"} is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0019290 {source="MESH:C536919/inferred", source="Orphanet:42665"} ! hypopigmentation of the skin -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 {source="MONDO:mim2gene_medgen"} ! MITF property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7772/tietz-syndrome" xsd:anyURI {source="GARD:0007772"} [Term] @@ -141302,7 +141293,6 @@ is_a: MONDO:0019992 {source="DOID:0080053", source="MONDO:0018699-obsoleted", so is_a: MONDO:0800466 {source="https://clinicalgenome.org/affiliation/40060/"} ! disorder of GNAS inactivation relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder relationship: excluded_subClassOf MONDO:0021154 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 {source="MONDO:mim2gene_medgen"} ! GNAS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI @@ -141382,7 +141372,6 @@ xref: Orphanet:403 {source="MONDO:equivalentTo", source="OMIM:103900"} xref: SCTID:237743003 {source="DOID:14080"} xref: UMLS:C3838731 {source="MEDGEN:824577", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016525 {source="OMIM:103900", source="Orphanet:403"} ! familial hyperaldosteronism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2591 {source="MONDO:mim2gene_medgen"} ! CYP11B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2790/glucocorticoid-remediable-aldosteronism" xsd:anyURI {source="GARD:0002790"} @@ -141442,7 +141431,6 @@ xref: SCTID:719518004 {source="MONDO:equivalentTo"} xref: UMLS:C4304669 {source="MEDGEN:930338", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="DOID:0111244", source="Orphanet:1010"} ! ectodermal dysplasia syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 {source="MONDO:mim2gene_medgen"} ! GJA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/604/autosomal-dominant-palmoplantar-keratoderma-and-congenital-alopecia" xsd:anyURI {source="GARD:0000604"} @@ -141519,7 +141507,6 @@ is_a: MONDO:0018965 {source="DC-OMIM:104200", source="DOID:0110032", source="MON intersection_of: MONDO:0018965 ! Alport syndrome intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:104200", source="Orphanet:88918"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2204 {source="MONDO:mim2gene_medgen"} ! COL4A3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome" xsd:anyURI {source="GARD:0000624"} @@ -141542,7 +141529,6 @@ xref: UMLS:C3549447 {source="MEDGEN:762361", source="MONDO:equivalentTo", source is_a: MONDO:0016241 {source="DC-OMIM:104290", source="MONDO:Redundant", source="OMIM:104290"} ! alternating hemiplegia of childhood intersection_of: MONDO:0016241 ! alternating hemiplegia of childhood intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/800 ! ATP1A2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/800 {source="MONDO:mim2gene_medgen"} ! ATP1A2 [Term] id: MONDO:0007088 @@ -141609,7 +141595,6 @@ is_a: MONDO:0004975 {source="https://github.com/monarch-initiative/mondo/issues/ is_a: MONDO:0100087 ! familial Alzheimer disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: excluded_subClassOf MONDO:0015140 {source="Orphanet:1020/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset autosomal dominant Alzheimer disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/613 {source="MONDO:mim2gene_medgen"} ! APOE property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3947" xsd:anyURI [Term] @@ -141671,7 +141656,6 @@ is_a: MONDO:0019507 {source="DOID:0110052", source="MESH:C562879", source="MONDO intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3344 ! ENAM -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3344 {source="MONDO:mim2gene_medgen"} ! ENAM [Term] id: MONDO:0007093 @@ -141703,7 +141687,6 @@ is_a: MONDO:0003847 {source="Orphanet:100034/inferred"} ! hereditary disease is_a: MONDO:0019507 {source="DC-OMIM:104510", source="DOID:0110053", source="MESH:C566293", source="MONDO:Redundant", source="OMIM:104510", source="Orphanet:100034"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2916 ! DLX3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2916 {source="MONDO:mim2gene_medgen"} ! DLX3 [Term] id: MONDO:0007094 @@ -141735,7 +141718,6 @@ is_a: MONDO:0015047 {source="Orphanet:100031/btnt"} ! amelogenesis imperfecta ty is_a: MONDO:0019507 {source="DOID:0110054", source="MESH:C538240", source="MONDO:Redundant", source="OMIM:104530"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6490 ! LAMB3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6490 {source="MONDO:mim2gene_medgen"} ! LAMB3 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/645/amelogenesis-imperfecta-local-hypoplastic" xsd:anyURI {source="GARD:0000645"} [Term] @@ -141818,7 +141800,7 @@ is_a: MONDO:0018102 {source="MESH:C537459", source="MONDO:Redundant", source="Or is_a: MONDO:0018634 {source="Orphanet:85448"} ! hereditary amyloidosis is_a: MONDO:0019065 {source="DOID:0050637", source="MESH:C537459", source="MONDO:Redundant", source="Orphanet:85448"} ! amyloidosis is_a: MONDO:0020127 {source="MONDO:0016134-obsoleted"} ! hereditary peripheral neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4620 {source="MONDO:mim2gene_medgen"} ! GSN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4620 {source="OMIM:105120"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -141859,7 +141841,6 @@ xref: Orphanet:85458 {source="OMIM:105150"} xref: SCTID:703220002 {source="MONDO:equivalentTo"} xref: UMLS:C1527338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:279656"} is_a: MONDO:0005620 {source="DC-OMIM:105150", source="DOID:0070027", source="Orphanet:100008"} ! cerebral amyloid angiopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2475 {source="MONDO:mim2gene_medgen"} ! CST3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -142028,9 +142009,9 @@ xref: Orphanet:803 {source="OMIM:105400"} xref: UMLS:C1862939 {source="MEDGEN:400169", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005144 {source="DOID:0060193", source="MESH:C531617", source="MONDO:Redundant", source="OMIM:105400"} ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11179 ! SOD1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9461 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007103 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11179 {source="MONDO:mim2gene_medgen"} ! SOD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9461 {source="OMIM:105400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -142064,7 +142045,7 @@ is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/ relationship: disease_has_feature HP:0000726 ! Dementia relationship: disease_has_feature HP:0001300 ! Parkinsonism relationship: disease_has_feature MONDO:0004976 ! amyotrophic lateral sclerosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17994 {source="MONDO:mim2gene_medgen"} ! TRPM7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17994 {source="OMIM:105500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -142099,9 +142080,9 @@ is_a: MONDO:0005144 {source="OMIM:105550"} ! familial amyotrophic lateral sclero is_a: MONDO:0017161 {source="OMIM:105550", source="Orphanet:275872/btnt", source="https://orcid.org/0000-0002-6601-2165"} ! frontotemporal dementia with motor neuron disease is_a: MONDO:0030923 {source="OMIM:105550"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis intersection_of: MONDO:0017161 ! frontotemporal dementia with motor neuron disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28337 ! C9orf72 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28337 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007105 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28337 {source="MONDO:mim2gene_medgen"} ! C9orf72 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28337 {source="OMIM:105550"} [Term] id: MONDO:0007106 @@ -142192,6 +142173,7 @@ xref: SCTID:26409005 {source="MONDO:equivalentTo"} xref: UMLS:C5676874 {source="MEDGEN:1801596", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019403 {source="DC-OMIM:105600", source="DOID:0111399", source="OMIM:105600", source="Orphanet:98870"} ! congenital dyserythropoietic anemia relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6392 {source="OMIM:105600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -142229,8 +142211,8 @@ xref: Orphanet:124 {source="OMIM:105650"} xref: UMLS:C2676137 {source="MEDGEN:390966", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015253 {source="DC-OMIM:105650", source="DOID:0111895", source="MONDO:Redundant", source="OMIM:105650"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10402 ! RPS19 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10402 {source="MONDO:mim2gene_medgen"} ! RPS19 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10402 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10402 {source="OMIM:105650"} [Term] id: MONDO:0007111 @@ -142321,7 +142303,7 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:72", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy relationship: excluded_subClassOf MONDO:0019040 {source="DOID:1932", source="MESH:C531619/inferred", source="MESH:D017204", source="https://orcid.org/0000-0001-5208-3432"} ! chromosomal disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12496 {source="MONDO:mim2gene_medgen"} ! UBE3A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12496 {source="OMIM:105830"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3941" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -142431,8 +142413,8 @@ is_a: MONDO:0006527 {source="DOID:0060603", source="MONDO:Entailed", source="MON is_a: MONDO:0019296 {source="Orphanet:468666"} ! subcutaneous tissue disorder is_a: MONDO:0021154 {source="Orphanet:468666"} ! dermis disorder intersection_of: MONDO:0006527 ! anhidrosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6181 ! ITPR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6181 {source="MONDO:mim2gene_medgen"} ! ITPR2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6181 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6181 {source="OMIM:106190"} [Term] id: MONDO:0007119 @@ -142572,7 +142554,6 @@ is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019287 {source="DOID:0090119", source="MESH:C535847", source="Orphanet:1071"} ! ectodermal dysplasia syndrome relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:1071", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 {source="MONDO:mim2gene_medgen"} ! TP63 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -142622,7 +142603,6 @@ is_a: MONDO:0020573 {source="OMIM:106300"} ! inherited disease susceptibility is_a: MONDO:0024512 {source="MONDO:Redundant", source="OMIM:106300"} ! spondyloarthropathy, susceptibility to intersection_of: MONDO:0024512 ! spondyloarthropathy, susceptibility to intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4932 ! HLA-B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4932 {source="MONDO:mim2gene_medgen"} ! HLA-B relationship: predisposes_towards MONDO:0005095 ! spondyloarthropathy [Term] @@ -142702,7 +142682,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005486 {source="DC-OMIM:106600", source="MONDO:Redundant", source="OMIM:106600"} ! tooth agenesis intersection_of: MONDO:0005486 ! tooth agenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7391 ! MSX1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7391 {source="MONDO:mim2gene_medgen"} ! MSX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7034" xsd:anyURI @@ -143072,7 +143051,7 @@ xref: Orphanet:1114 {source="OMIM:107600", source="MONDO:equivalentTo"} xref: SCTID:35484002 {source="MONDO:equivalentTo"} xref: UMLS:C0282160 {source="MEDGEN:79390", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019294 {source="Orphanet:1114"} ! mixed dermis disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23505 {source="MONDO:mim2gene_medgen"} ! BMS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23505 {source="OMIM:107600"} property_value: IAO:0000589 "aplasia cutis congenita (disease)" xsd:string [Term] @@ -143220,7 +143199,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o relationship: excluded_subClassOf MONDO:0017401 {source="https://orcid.org/0000-0001-5208-3432"} ! familial isolated arrhythmogenic ventricular dysplasia, left dominant form relationship: excluded_subClassOf MONDO:0017402 {source="https://orcid.org/0000-0001-5208-3432"} ! familial isolated arrhythmogenic ventricular dysplasia, biventricular form relationship: excluded_subClassOf MONDO:0017403 {source="https://orcid.org/0000-0001-5208-3432"} ! familial isolated arrhythmogenic ventricular dysplasia, right dominant form -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11769 {source="MONDO:mim2gene_medgen"} ! TGFB3 [Term] id: MONDO:0007153 @@ -143268,7 +143246,6 @@ xref: SCTID:234142008 {source="MONDO:equivalentTo"} xref: UMLS:C0917804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:214590"} is_a: MONDO:0001256 {source="DOID:0060688", source="MESH:D002538", source="MONDO:Redundant", source="NCIT:C2936", source="Orphanet:46724"} ! arteriovenous hemangioma/malformation is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6018 {source="MONDO:mim2gene_medgen"} ! IL6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -143313,7 +143290,6 @@ xref: SCTID:715314008 {source="MONDO:equivalentTo"} xref: UMLS:C0220662 {source="MEDGEN:113099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015240 {source="DOID:0111597"} ! digitotalar dysmorphism is_a: MONDO:0019942 ! distal arthrogryposis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12011 {source="MONDO:mim2gene_medgen"} ! TPM2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -143348,7 +143324,6 @@ xref: Orphanet:1154 {source="GARD:0004047", source="OMIM:108145", source="MONDO: xref: SCTID:715217004 {source="MONDO:equivalentTo"} xref: UMLS:C1862472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350678"} is_a: MONDO:0019942 {source="DC-OMIM:108145", source="DOID:0111608", source="OMIM:108145", source="Orphanet:1154"} ! distal arthrogryposis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26270 {source="MONDO:mim2gene_medgen"} ! PIEZO2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4047/distal-arthrogryposis-type-5" xsd:anyURI {source="GARD:0004047"} [Term] @@ -143410,7 +143385,6 @@ xref: UMLS:C2020284 {source="MEDGEN:810955", source="MONDO:equivalentTo", source is_a: MONDO:0019354 {source="DC-OMIM:108300", source="DOID:0080676", source="OMIM:108300", source="Orphanet:90653"} ! Stickler syndrome is_a: MONDO:0022800 {source="Orphanet:90653", source="PMID:31633310"} ! type 2 collagenopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007160 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -143481,7 +143455,6 @@ is_a: MONDO:0016227 {source="DOID:0050990", source="MONDO:Redundant", source="OM is_a: MONDO:0100254 {source="https://clinicalgenome.org/affiliation/40006/"} ! CACNA1A-related complex neurodevelopmental disorder intersection_of: MONDO:0016227 ! hereditary episodic ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 ! CACNA1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 {source="MONDO:mim2gene_medgen"} ! CACNA1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5753" xsd:anyURI [Term] @@ -143512,7 +143485,6 @@ is_a: MONDO:0017845 {source="DOID:0050772", source="MONDO:Redundant", source="OM is_a: MONDO:0017846 {source="MONDO:Redundant", source="Orphanet:251282"} ! autosomal dominant spastic ataxia intersection_of: MONDO:0017846 ! autosomal dominant spastic ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12642 ! VAMP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12642 {source="MONDO:mim2gene_medgen"} ! VAMP1 [Term] id: MONDO:0007165 @@ -143586,7 +143558,6 @@ xref: UMLS:C0265283 {source="MEDGEN:82701", source="MONDO:equivalentTo", source= is_a: MONDO:0000389 {source="DC-OMIM:108720", source="OMIM:108720"} ! atelosteogenesis is_a: MONDO:0019690 {source="Orphanet:1190", source="PMID:31633310"} ! filamin-related bone disorder relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:1190", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3755 {source="MONDO:mim2gene_medgen"} ! FLNB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -143620,7 +143591,6 @@ is_a: MONDO:0019690 {source="Orphanet:56305", source="PMID:31633310"} ! filamin- relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:56305", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:56305", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:56305", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3755 {source="MONDO:mim2gene_medgen"} ! FLNB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -143674,7 +143644,6 @@ xref: UMLS:C4551959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015281 {source="DC-OMIM:108770", source="MONDO:Redundant"} ! atrial standstill intersection_of: MONDO:0015281 ! atrial standstill intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4279 ! GJA5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4279 {source="MONDO:mim2gene_medgen"} ! GJA5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -143730,7 +143699,6 @@ is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0006664 {source="DC-OMIM:108900", source="DOID:0110112", source="MONDO:Redundant", source="OMIM:108900", source="OMIM:108900/inferred"} ! atrial septal defect intersection_of: MONDO:0006664 ! atrial septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 ! NKX2-5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 {source="MONDO:mim2gene_medgen"} ! NKX2-5 [Term] id: MONDO:0007174 @@ -143798,7 +143766,7 @@ xref: Orphanet:86813 {source="OMIM:108985", source="MONDO:equivalentTo"} xref: SCTID:724384008 {source="MONDO:equivalentTo"} xref: UMLS:C1862382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354733"} is_a: MONDO:0019118 {source="Orphanet:86813"} ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11714 {source="MONDO:mim2gene_medgen"} ! TEAD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11714 {source="OMIM:108985"} [Term] id: MONDO:0007177 @@ -143939,7 +143907,6 @@ xref: SCTID:91952008 {source="DOID:1440", source="MONDO:equivalentTo"} xref: UMLS:C0024408 {source="MEDGEN:9841", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015548 {source="Orphanet:98757"} ! Huntington disease-like syndrome is_a: MONDO:0019792 {source="Orphanet:98757"} ! autosomal dominant cerebellar ataxia type I -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7106 {source="MONDO:mim2gene_medgen"} ! ATXN3 [Term] id: MONDO:0007183 @@ -144415,7 +144382,6 @@ is_a: MONDO:0008537 {source="Orphanet:126"} ! telecanthus is_a: MONDO:0019852 {source="Orphanet:126"} ! inherited primary ovarian failure relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:126", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic developmental defect of the eye relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:110100", source="Orphanet:126"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1092 {source="MONDO:mim2gene_medgen"} ! FOXL2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -144497,8 +144463,8 @@ xref: UMLS:C4317154 {source="MEDGEN:1374755", source="MONDO:equivalentTo", sourc is_a: MONDO:0016085 {source="DC-OMIM:112240", source="MONDO:Redundant", source="OMIM:112240"} ! Cole-Carpenter syndrome is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0016085 ! Cole-Carpenter syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8548 ! P4HB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8548 {source="MONDO:mim2gene_medgen"} ! P4HB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8548 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8548 {source="OMIM:112240"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -144539,6 +144505,7 @@ is_a: MONDO:0019060 {source="Orphanet:85182"} ! bone neoplasm is_a: MONDO:0800159 {source="PMID:33340416"} ! disorder of polyamine metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007205 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:85182", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7413 {source="OMIM:112250"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -144603,7 +144570,6 @@ xref: UMLS:C0432201 {source="MEDGEN:96579", source="MONDO:equivalentTo", source= is_a: MONDO:0005516 {source="DOID:0050680", source="MESH:C536573"} ! osteochondrodysplasia is_a: MONDO:0019690 {source="Orphanet:1263", source="PMID:31633310"} ! filamin-related bone disorder relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:1263", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3755 {source="MONDO:mim2gene_medgen"} ! FLNB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia" xsd:anyURI {source="GARD:0000933"} @@ -144683,7 +144649,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditar is_a: MONDO:0018234 {source="PMID:31549136", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0021004 {source="PMID:31549136", source="https://orcid.org/0009-0001-6494-4831"} ! brachydactyly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8778 {source="MONDO:mim2gene_medgen"} ! PDE3A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8778 {source="OMIM:112410"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -144937,7 +144903,6 @@ xref: UMLS:C1862112 {source="MEDGEN:349432", source="MONDO:equivalentTo", source is_a: MONDO:0019676 {source="MONDO:Redundant", source="Orphanet:572385", source="https://orcid.org/0000-0002-6601-2165"} ! brachydactyly type B intersection_of: MONDO:0019676 ! brachydactyly type B intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10257 ! ROR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10257 {source="MONDO:mim2gene_medgen"} ! ROR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -144965,7 +144930,6 @@ xref: OMIM:113100 {source="Orphanet:93384", source="MONDO:equivalentTo", source= xref: Orphanet:93384 {source="OMIM:113100", source="MONDO:equivalentTo", source="DOID:0110970"} xref: UMLS:C1862103 {source="MEDGEN:350590", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021004 {source="DOID:0110970", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -144986,7 +144950,6 @@ xref: OMIM:113200 {source="MONDO:equivalentTo", source="DOID:0110971"} xref: Orphanet:93385 {source="MONDO:equivalentObsolete", source="OMIM:113200"} xref: UMLS:C0220664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66313"} is_a: MONDO:0021004 {source="DOID:0110971", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 {source="MONDO:mim2gene_medgen"} ! HOXD13 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -145009,7 +144972,6 @@ xref: Orphanet:93387 {source="OMIM:113300"} xref: UMLS:C1862102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396291"} intersection_of: MONDO:0019677 ! brachydactyly type E intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 ! HOXD13 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 {source="MONDO:mim2gene_medgen"} ! HOXD13 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -145212,7 +145174,6 @@ is_a: MONDO:0018240 {source="Orphanet:93304", source="PMID:31633310"} ! TRPV4-re intersection_of: MONDO:0015262 ! brachyolmia intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:113500", source="Orphanet:93304"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -145288,7 +145249,7 @@ xref: UMLS:C0376524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000426 {source="DOID:0050691", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015161 {source="Orphanet:1297"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:113620", source="Orphanet:1297"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11742 {source="MONDO:mim2gene_medgen"} ! TFAP2A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11742 {source="OMIM:113620"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3212/branchiooculofacial-syndrome" xsd:anyURI {source="GARD:0003212"} [Term] @@ -145441,7 +145402,6 @@ is_a: MONDO:0007263 {source="MONDO:Redundant", source="NCIT:C126651"} ! cardiac is_a: MONDO:0019490 {source="DC-OMIM:113900", source="DOID:0111074", source="MONDO:Redundant", source="OMIM:113900"} ! progressive familial heart block intersection_of: MONDO:0019490 ! progressive familial heart block intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 ! SCN5A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 {source="MONDO:mim2gene_medgen"} ! SCN5A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -145520,7 +145480,7 @@ xref: UMLS:C0006413 {source="MONDO:equivalentTo", source="MEDGEN:2377", source=" is_a: MONDO:0004949 {source="DOID:8584", source="EFO:0000309", source="NCIT:C2912/inferred", source="ONCOTREE:BL"} ! neoplasm of mature B-cells is_a: MONDO:0017343 {source="Orphanet:543"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder is_a: MONDO:0017595 {source="NCIT:C2912", source="Orphanet:543"} ! aggressive B-cell non-Hodgkin lymphoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7553 {source="MONDO:mim2gene_medgen"} ! MYC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7553 {source="OMIM:113970"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -145556,7 +145516,6 @@ is_a: MONDO:0002614 {source="DOID:4257"} ! bone inflammation disease is_a: MONDO:0019702 {source="Orphanet:1310", source="PMID:31633310"} ! neonatal osteosclerotic dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007244 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0000737 ! Irritability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2197 {source="MONDO:mim2gene_medgen"} ! COL1A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -145758,7 +145717,6 @@ is_a: MONDO:0019698 {source="Orphanet:140", source="PMID:31633310"} ! bent bone is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007251 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0020040 {source="https://orcid.org/0000-0001-5208-3432"} ! 46,XY disorder of sex development -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11204 {source="MONDO:mim2gene_medgen"} ! SOX9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -145794,7 +145752,6 @@ xref: SCTID:237850008 {source="MONDO:equivalentTo"} xref: UMLS:C0220666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66314"} is_a: MONDO:0015161 {source="Orphanet:376"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019942 {source="DC-OMIM:114300", source="DOID:0111607", source="OMIM:114300", source="Orphanet:376"} ! distal arthrogryposis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26270 {source="MONDO:mim2gene_medgen"} ! PIEZO2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2553/gordon-syndrome" xsd:anyURI {source="GARD:0002553"} [Term] @@ -145919,6 +145876,7 @@ intersection_of: disease_arises_from_structure CL:0000182 ! hepatocyte relationship: disease_arises_from_structure CL:0000182 {source="NCIT:C3099"} ! hepatocyte relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain relationship: disease_has_location UBERON:0002107 {source="EFO:0000784"} ! liver +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5467 {source="OMIM:114550"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -146050,7 +146008,6 @@ xref: Orphanet:1340 {source="OMIM:115150"} is_a: MONDO:0015280 {source="DC-OMIM:115150", source="DOID:0111460", source="MONDO:Redundant", source="OMIM:115150"} ! cardiofaciocutaneous syndrome intersection_of: MONDO:0015280 ! cardiofaciocutaneous syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 ! BRAF -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 {source="MONDO:mim2gene_medgen"} ! BRAF property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -146082,7 +146039,6 @@ is_a: MONDO:0005045 {source="DC-OMIM:115195", source="DOID:0110308", source="MES is_a: MONDO:0024573 {source="DOID:0110308", source="MESH:C566171", source="MONDO:OMIM", source="NCIT:C142892", source="OMIM:115195"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11949 ! TNNT2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11949 {source="MONDO:mim2gene_medgen"} ! TNNT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -146111,7 +146067,6 @@ is_a: MONDO:0005045 {source="DC-OMIM:115196", source="DOID:0110309", source="MES is_a: MONDO:0024573 {source="DOID:0110309", source="MESH:C566170", source="MONDO:OMIM", source="OMIM:115196"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12010 ! TPM1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12010 {source="MONDO:mim2gene_medgen"} ! TPM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -146143,7 +146098,6 @@ is_a: MONDO:0005045 {source="DC-OMIM:115197", source="DOID:0110310", source="MES is_a: MONDO:0024573 {source="DOID:0110310", source="MESH:C566169", source="MONDO:OMIM", source="NCIT:C133725", source="OMIM:115197"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7551 ! MYBPC3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7551 {source="MONDO:mim2gene_medgen"} ! MYBPC3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -146182,7 +146136,6 @@ xref: UMLS:C1449563 {source="MEDGEN:258500", source="MONDO:equivalentTo", source is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:115200", source="Orphanet:300751"} ! familial dilated cardiomyopathy relationship: disease_has_feature MONDO:0004994 ! cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1104/cardiomyopathy-dilated-with-conduction-defect-type-1" xsd:anyURI {source="GARD:0001104"} [Term] @@ -146206,7 +146159,6 @@ xref: OMIM:115210 {source="MONDO:equivalentTo"} xref: Orphanet:75249 {source="OMIM:115210"} xref: UMLS:C1861861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396236"} is_a: MONDO:0016340 {source="MONDO:Redundant", source="OMIM:115210"} ! familial restrictive cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11947 {source="MONDO:mim2gene_medgen"} ! TNNI3 [Term] id: MONDO:0007271 @@ -146257,7 +146209,7 @@ xref: UMLS:C2676023 {source="MEDGEN:393944", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005066 {source="https://orcid.org/0000-0002-1780-5230"} ! metabolic disease is_a: MONDO:0017758 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of vitamin and non-protein cofactor absorption and transport -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13815 {source="MONDO:mim2gene_medgen"} ! BCO1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13815 {source="OMIM:115300"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -146291,7 +146243,6 @@ is_a: MONDO:0006295 {source="MONDO:Redundant"} ! malignant urinary system neopla is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma intersection_of: MONDO:0000448 ! paraganglioma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10681 ! SDHB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10681 {source="MONDO:mim2gene_medgen"} ! SDHB property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10546/paragangliomas-4" xsd:anyURI {source="GARD:0010546"} [Term] @@ -146370,7 +146321,6 @@ xref: SCTID:26445008 {source="MONDO:equivalentTo"} xref: UMLS:C0265493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120543"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75477", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: disease_has_feature HP:0000486 ! Strabismus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1838 {source="MONDO:mim2gene_medgen"} ! CECR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome" xsd:anyURI {source="GARD:0000026"} @@ -146508,10 +146458,10 @@ xref: Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:115700"} xref: UMLS:C3540850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761925"} is_a: MONDO:0005129 {source="DOID:0110234", source="MONDO:Redundant", source="OMIM:115700"} ! cataract intersection_of: MONDO:0005129 ! cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2411 ! CRYGD +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2411 relationship: excluded_subClassOf MONDO:0011060 {source="Orphanet:91492/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset non-syndromic cataract relationship: excluded_subClassOf MONDO:0015300 {source="Orphanet:1377/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! cataract - microcornea syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2411 {source="MONDO:mim2gene_medgen"} ! CRYGD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2411 {source="OMIM:115700"} [Term] id: MONDO:0007282 @@ -146558,8 +146508,8 @@ xref: UMLS:C4011454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005129 {source="DOID:0110237", source="MONDO:Redundant", source="OMIM:115900"} ! cataract is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2395 ! CRYBA2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2395 {source="MONDO:mim2gene_medgen"} ! CRYBA2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2395 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2395 {source="OMIM:115900"} [Term] id: MONDO:0007284 @@ -146582,8 +146532,8 @@ xref: UMLS:C0524524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005129 {source="DOID:0110240", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:116100"} ! cataract is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0005129 ! cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2417 ! CRYGS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2417 {source="MONDO:mim2gene_medgen"} ! CRYGS +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2417 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2417 {source="OMIM:116100"} [Term] id: MONDO:0007285 @@ -146614,10 +146564,10 @@ xref: Orphanet:98984 {source="OMIM:116200", source="MONDO:directSiblingOf"} xref: UMLS:C1861828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349374"} is_a: MONDO:0005129 {source="DOID:0110231", source="MESH:C566158", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:116200"} ! cataract intersection_of: MONDO:0005129 ! cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4281 ! GJA8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4281 relationship: excluded_subClassOf MONDO:0011060 {source="Orphanet:91492/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset non-syndromic cataract relationship: excluded_subClassOf MONDO:0015300 {source="Orphanet:1377/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! cataract - microcornea syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4281 {source="MONDO:mim2gene_medgen"} ! GJA8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4281 {source="OMIM:116200"} [Term] id: MONDO:0007286 @@ -146647,8 +146597,8 @@ is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! e is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt"} ! early-onset partial cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: MONDO:0020377 ! early-onset partial cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12692 ! VIM -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12692 {source="MONDO:mim2gene_medgen"} ! VIM +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12692 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12692 {source="OMIM:116300"} [Term] id: MONDO:0007287 @@ -146679,7 +146629,6 @@ is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt"} ! e is_a: MONDO:0020379 {source="MONDO:Redundant", source="Orphanet:98995/btnt"} ! early-onset zonular cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12762 ! WFS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12762 {source="MONDO:mim2gene_medgen"} ! WFS1 [Term] id: MONDO:0007288 @@ -146712,8 +146661,8 @@ xref: UMLS:C1861825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005129 {source="DOID:0110229", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:116600"} ! cataract is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0005129 ! cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3386 ! EPHA2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3386 {source="MONDO:mim2gene_medgen"} ! EPHA2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3386 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3386 {source="OMIM:116600"} [Term] id: MONDO:0007289 @@ -146735,7 +146684,6 @@ xref: Orphanet:91492 {source="OMIM:116700"} xref: UMLS:C3805373 {source="MEDGEN:811703", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005129 {source="DOID:0110242", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:116700"} ! cataract is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4204 {source="MONDO:mim2gene_medgen"} ! GCNT2 [Term] id: MONDO:0007290 @@ -146762,8 +146710,8 @@ xref: UMLS:C0266537 {source="MONDO:equivalentTo", source="MEDGEN:78608", source= is_a: MONDO:0005129 {source="DOID:0110255", source="MESH:C535342", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:116800"} ! cataract is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0005129 ! cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5227 ! HSF4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5227 {source="MONDO:mim2gene_medgen"} ! HSF4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5227 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5227 {source="OMIM:116800"} [Term] id: MONDO:0007291 @@ -146822,9 +146770,9 @@ xref: SCTID:234582006 {source="MONDO:equivalentTo"} xref: UMLS:C0398738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98310"} is_a: MONDO:0017570 {source="DOID:0110910", source="MONDO:Redundant", source="NCIT:C4689", source="Orphanet:99842"} ! leukocyte adhesion deficiency intersection_of: MONDO:0017570 ! leukocyte adhesion deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6155 ! ITGB2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6155 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:116920", source="Orphanet:99842"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6155 {source="MONDO:mim2gene_medgen"} ! ITGB2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6155 {source="OMIM:116920"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -146871,7 +146819,6 @@ is_a: MONDO:0002921 {source="DOID:3529", source="MESH:D020512", source="MONDO:Re is_a: MONDO:0018943 {source="NCIT:C83010"} ! myofibrillar myopathy is_a: MONDO:0019952 {source="OMIM:117000"} ! congenital myopathy is_a: MONDO:0100196 {source="PMID:23413262", source="https://clinicalgenome.org/affiliation/40031/", source="https://github.com/monarch-initiative/mondo/issues/1922"} ! TPM2-related myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10483 {source="MONDO:mim2gene_medgen"} ! RYR1 [Term] id: MONDO:0007295 @@ -146956,7 +146903,7 @@ xref: Orphanet:217012 {source="OMIM:117210", source="MONDO:equivalentTo"} xref: SCTID:715826005 {source="MONDO:equivalentTo"} xref: UMLS:C1861736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348439"} is_a: MONDO:0019793 {source="Orphanet:217012"} ! autosomal dominant cerebellar ataxia type III -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24160 {source="MONDO:mim2gene_medgen"} ! BEAN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24160 {source="OMIM:117210"} [Term] id: MONDO:0007297 @@ -146990,7 +146937,6 @@ xref: Orphanet:97346 {source="OMIM:117300", source="MONDO:equivalentTo"} xref: UMLS:C1861735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396208"} is_a: MONDO:0005620 {source="DC-OMIM:117300", source="DOID:0070030"} ! cerebral amyloid angiopathy is_a: MONDO:0018591 {source="Orphanet:97346"} ! ITM2B amyloidosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6174 {source="MONDO:mim2gene_medgen"} ! ITM2B [Term] id: MONDO:0007298 @@ -147088,7 +147034,7 @@ is_a: MONDO:0002254 {source="DOID:0111248", source="https://orcid.org/0000-0002- is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder is_a: MONDO:0015160 {source="Orphanet:1393"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11153 {source="MONDO:mim2gene_medgen"} ! SNRPB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11153 {source="OMIM:117650"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -147172,7 +147118,6 @@ xref: OMIM:118100 {source="MONDO:equivalentTo"} xref: Orphanet:2345 {source="OMIM:118100"} xref: UMLS:C1861689 {source="MEDGEN:396196", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001029 {source="DOID:0080589", source="MESH:C536887", source="MONDO:Redundant", source="OMIM:118100"} ! Klippel-Feil syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4221 {source="MONDO:mim2gene_medgen"} ! GDF6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -147219,7 +147164,6 @@ is_a: MONDO:0015626 {source="DOID:0110152/inferred", source="MONDO:Redundant", s is_a: MONDO:0019011 {source="DOID:0110152", source="MONDO:Redundant", source="Orphanet:101082"} ! Charcot-Marie-Tooth disease type 1 intersection_of: MONDO:0019011 ! Charcot-Marie-Tooth disease type 1 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7225 ! MPZ -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7225 {source="MONDO:mim2gene_medgen"} ! MPZ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -147277,7 +147221,6 @@ is_a: MONDO:0018993 {source="DOID:0110154", source="MONDO:Redundant", source="Or intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16636 ! KIF1B relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007308 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16636 {source="MONDO:mim2gene_medgen"} ! KIF1B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1248/charcot-marie-tooth-disease-type-2a" xsd:anyURI {source="GARD:0001248"} @@ -147320,7 +147263,6 @@ is_a: MONDO:0015626 {source="DOID:0110148/inferred", source="MONDO:Redundant", s is_a: MONDO:0016950 {source="Orphanet:101081", source="https://orcid.org/0000-0001-5208-3432"} ! partial duplication of the short arm of chromosome 17 is_a: MONDO:0019011 {source="DOID:0110148", source="Orphanet:101081"} ! Charcot-Marie-Tooth disease type 1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007309 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9118 {source="MONDO:mim2gene_medgen"} ! PMP22 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a" xsd:anyURI {source="GARD:0001245"} @@ -147370,7 +147312,6 @@ xref: Orphanet:90658 {source="OMIM:118300", source="MONDO:equivalentTo", source= xref: UMLS:C3495591 {source="MEDGEN:501212", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015626 {source="DOID:0110153/inferred", source="MESH:C537986", source="MONDO:Redundant", source="OMIM:118300", source="Orphanet:90658/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0019011 {source="DOID:0110153", source="Orphanet:90658"} ! Charcot-Marie-Tooth disease type 1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9118 {source="MONDO:mim2gene_medgen"} ! PMP22 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -147457,7 +147398,7 @@ is_a: MONDO:0015356 {source="NCIT:C84630"} ! hereditary neoplastic syndrome is_a: MONDO:0019751 ! autoinflammatory syndrome relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:184", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:118400", source="Orphanet:184"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10825 {source="MONDO:mim2gene_medgen"} ! SH3BP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10825 {source="OMIM:118400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -147597,7 +147538,6 @@ xref: UMLS:C0856830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0001314 {source="DC-OMIM:118600", source="MESH:C563162"} ! chondrocalcinosis is_a: MONDO:0005554 {source="Orphanet:1416"} ! rheumatic disorder is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15492 {source="MONDO:mim2gene_medgen"} ! ANKH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -147856,7 +147796,6 @@ xref: UMLS:C4551864 {source="MEDGEN:1640616", source="MONDO:equivalentTo", sourc is_a: MONDO:0019508 {source="DC-OMIM:119300", source="MONDO:Redundant"} ! van der Woude syndrome intersection_of: MONDO:0019508 ! van der Woude syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6121 ! IRF6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6121 {source="MONDO:mim2gene_medgen"} ! IRF6 [Term] id: MONDO:0007334 @@ -147893,7 +147832,6 @@ is_a: MONDO:0017435 {source="DC-OMIM:119500", source="MONDO:Redundant", source=" intersection_of: MONDO:0017435 ! popliteal pterygium syndrome intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:1300", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6121 {source="MONDO:mim2gene_medgen"} ! IRF6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -147946,7 +147884,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0016064 {source="DOID:0110213", source="MONDO:Entailed", source="MONDO:Redundant"} ! cleft palate intersection_of: MONDO:0016064 ! cleft palate intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12463 {source="MONDO:mim2gene_medgen"} ! UBB property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1896/dominant-cleft-palate" xsd:anyURI {source="GARD:0001896"} [Term] @@ -148087,7 +148024,6 @@ xref: UMLS:C0008928 {source="MEDGEN:3486", source="MONDO:equivalentTo", source=" is_a: MONDO:0002254 {source="NCIT:C75020"} ! syndromic disease is_a: MONDO:0005516 {source="DOID:13994", source="MESH:D002973"} ! osteochondrodysplasia is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10472 {source="MONDO:mim2gene_medgen"} ! RUNX2 [Term] id: MONDO:0007341 @@ -148162,7 +148098,7 @@ xref: SCTID:397932003 {source="MONDO:equivalentTo", source="DOID:11836"} xref: UMLS:C0009081 {source="MEDGEN:3130", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016046 {source="Orphanet:199315/btnt"} ! familial clubfoot with or without associated lower limb anomalies is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9004 {source="MONDO:mim2gene_medgen"} ! PITX1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9004 {source="OMIM:119800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -148190,7 +148126,6 @@ xref: Orphanet:217059 {source="MONDO:equivalentTo", source="OMIM:119900"} xref: UMLS:C0345408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576901"} is_a: MONDO:0019284 {source="Orphanet:217059"} ! inherited isolated nail anomaly is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5154 {source="MONDO:mim2gene_medgen"} ! HPGD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI [Term] @@ -148322,7 +148257,6 @@ xref: UMLS:C4551895 {source="MONDO:equivalentTo", source="MEDGEN:1647324", sourc is_a: MONDO:0018768 {source="DC-OMIM:120100", source="DOID:0090062", source="MONDO:Redundant", source="OMIM:120100"} ! familial cold autoinflammatory syndrome intersection_of: MONDO:0018768 ! familial cold autoinflammatory syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16400 ! NLRP3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16400 {source="MONDO:mim2gene_medgen"} ! NLRP3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -148403,7 +148337,6 @@ xref: UMLS:C1852759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000426 {source="DOID:0090006", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="DOID:0090006", source="MONDO:Redundant", source="NCIT:C123230", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:120330", source="Orphanet:1475"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8616 {source="MONDO:mim2gene_medgen"} ! PAX2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome" xsd:anyURI {source="GARD:0004106"} @@ -148471,7 +148404,6 @@ xref: UMLS:C0155299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0001476 {source="DC-OMIM:120430", source="MESH:C535970", source="Orphanet:98947"} ! coloboma is_a: MONDO:0001834 {source="DOID:11975"} ! visual pathway disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8620 {source="MONDO:mim2gene_medgen"} ! PAX6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4364" xsd:anyURI property_value: IAO:0000589 "coloboma of optic nerve (disease)" xsd:string @@ -148506,7 +148438,7 @@ xref: Orphanet:1473 {source="MONDO:equivalentTo", source="OMIM:120433"} xref: UMLS:C3805432 {source="MEDGEN:811762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015159 {source="Orphanet:1473"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1473", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16262 {source="MONDO:mim2gene_medgen"} ! YAP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16262 {source="OMIM:120433"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -148539,7 +148471,6 @@ xref: UMLS:C2936783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018630 {source="MONDO:Redundant", source="NCIT:C6725/inferred", source="OMIM:120435"} ! hereditary nonpolyposis colon cancer relationship: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:120435", source="NCIT:C6725", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:120435"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7325 {source="OMIM:120435"} ! MSH2 [Term] id: MONDO:0007357 @@ -148610,7 +148541,6 @@ xref: UMLS:C1852700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000015 {source="DC-OMIM:120790"} ! classic complement early component deficiency is_a: MONDO:0003832 {source="DOID:0060002", source="MONDO:indirect"} ! complement deficiency relationship: disease_has_feature HP:0004431 ! Reduced circulating complement concentration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1228 {source="MONDO:mim2gene_medgen"} ! SERPING1 [Term] id: MONDO:0007362 @@ -148645,7 +148575,6 @@ is_a: MONDO:0015993 {source="DC-OMIM:120970", source="DOID:0111005", source="MON is_a: MONDO:0019200 {source="OMIM:120970"} ! retinitis pigmentosa intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2383 ! CRX -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2383 {source="MONDO:mim2gene_medgen"} ! CRX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -148688,7 +148617,6 @@ is_a: MONDO:0008779 {source="NCIT:C129865"} ! arthrogryposis is_a: MONDO:0017310 {source="Orphanet:115"} ! Marfan and Marfan-related disorder is_a: MONDO:0019942 {source="DC-OMIM:121050", source="DOID:0111595", source="OMIM:121050", source="Orphanet:115"} ! distal arthrogryposis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3604 {source="MONDO:mim2gene_medgen"} ! FBN2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -148730,7 +148658,6 @@ xref: UMLS:C3149074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016027 {source="DC-OMIM:121200", source="MONDO:Redundant", source="OMIM:121200"} ! benign neonatal seizures intersection_of: MONDO:0016027 ! benign neonatal seizures intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6296 ! KCNQ2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6296 {source="MONDO:mim2gene_medgen"} ! KCNQ2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -148754,8 +148681,8 @@ xref: Orphanet:1949 {source="OMIM:121201"} xref: UMLS:C1852581 {source="MEDGEN:377707", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016027 {source="DC-OMIM:121201", source="MONDO:Redundant", source="OMIM:121201"} ! benign neonatal seizures intersection_of: MONDO:0016027 ! benign neonatal seizures -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6297 ! KCNQ3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6297 {source="MONDO:mim2gene_medgen"} ! KCNQ3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6297 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6297 {source="OMIM:121201"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -148842,7 +148769,6 @@ xref: UMLS:C0162531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002520 {source="DOID:13269", source="MESH:D046349", source="Orphanet:79273"} ! hepatic porphyria is_a: MONDO:0019142 {source="DOID:13269/inferred", source="MESH:D046349/inferred", source="MONDO:Redundant", source="NCIT:C84759", source="Orphanet:79273/inferred"} ! inherited porphyria is_a: MONDO:0800180 {source="https://clinicalgenome.org/affiliation/40097/", source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/"} ! CPOX-related hereditary coproporphyria -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2321 {source="MONDO:mim2gene_medgen"} ! CPOX property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria" xsd:anyURI {source="GARD:0006619"} [Term] @@ -148927,7 +148853,7 @@ xref: SCTID:419395007 {source="MONDO:equivalentTo", source="DOID:0060456"} xref: SCTID:420212002 {source="DOID:0060456"} xref: UMLS:C0271287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124391"} is_a: MONDO:0020213 {source="DOID:0060456", source="Orphanet:98967"} ! stromal corneal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30791 {source="MONDO:mim2gene_medgen"} ! UBIAD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30791 {source="OMIM:121800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -148963,7 +148889,6 @@ xref: SCTID:373426005 {source="MONDO:equivalentTo"} xref: UMLS:C0521723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99275"} is_a: MONDO:0000763 {source="DOID:0060447"} ! epithelial and subepithelial corneal dystrophy is_a: MONDO:0020212 {source="Orphanet:98956"} ! superficial corneal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 {source="MONDO:mim2gene_medgen"} ! TGFBI [Term] id: MONDO:0007376 @@ -148996,7 +148921,7 @@ xref: Orphanet:98970 {source="MONDO:equivalentTo", source="DOID:0060448", source xref: SCTID:417183007 {source="MONDO:equivalentTo", source="DOID:0060448"} xref: UMLS:C1562113 {source="MEDGEN:287065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020213 {source="DOID:0060448", source="Orphanet:98970"} ! stromal corneal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23785 {source="MONDO:mim2gene_medgen"} ! PIKFYVE +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23785 {source="OMIM:121850"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -149033,7 +148958,6 @@ xref: Orphanet:98962 {source="OMIM:121900", source="MONDO:equivalentTo"} xref: SCTID:419039007 {source="MONDO:equivalentTo"} xref: UMLS:C1641846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351521"} is_a: MONDO:0020213 {source="Orphanet:98962"} ! stromal corneal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 {source="MONDO:mim2gene_medgen"} ! TGFBI [Term] id: MONDO:0007378 @@ -149064,7 +148988,8 @@ xref: SCTID:29504002 {source="MONDO:equivalentTo"} xref: UMLS:C1852555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343836"} is_a: MONDO:0020364 {source="DC-OMIM:122000", source="DOID:0110855", source="MONDO:Redundant", source="OMIM:122000"} ! posterior polymorphous corneal dystrophy intersection_of: MONDO:0020364 ! posterior polymorphous corneal dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15804 ! OVOL2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15804 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15804 {source="OMIM:122000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1368" xsd:anyURI [Term] @@ -149137,7 +149062,6 @@ xref: SCTID:419197009 {source="MONDO:equivalentTo"} xref: UMLS:C1690006 {source="MEDGEN:305533", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004686 {source="https://orcid.org/0000-0001-5208-3432"} ! lattice corneal dystrophy is_a: MONDO:0020213 {source="Orphanet:98964"} ! stromal corneal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 {source="MONDO:mim2gene_medgen"} ! TGFBI [Term] id: MONDO:0007381 @@ -149166,7 +149090,6 @@ xref: Orphanet:293381 {source="MONDO:equivalentTo", source="OMIM:122400"} xref: SCTID:715908008 {source="MONDO:equivalentTo"} xref: UMLS:C1852551 {source="MEDGEN:342263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020212 {source="Orphanet:293381"} ! superficial corneal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2194 {source="MONDO:mim2gene_medgen"} ! COL17A1 [Term] id: MONDO:0007382 @@ -149314,8 +149237,8 @@ xref: UMLS:C4551851 {source="MEDGEN:1645760", source="MONDO:equivalentTo", sourc is_a: MONDO:0016033 {source="DC-OMIM:122470", source="DOID:0080505", source="MONDO:Redundant", source="OMIM:122470"} ! Cornelia de Lange syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0016033 ! Cornelia de Lange syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28862 ! NIPBL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28862 {source="MONDO:mim2gene_medgen"} ! NIPBL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28862 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28862 {source="OMIM:122470"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -149370,8 +149293,8 @@ xref: Orphanet:1797 {source="MONDO:relatedTo", source="OMIM:122600"} xref: UMLS:C4083048 {source="MONDO:equivalentTo", source="MEDGEN:901825", source="MONDO:MEDGEN"} is_a: MONDO:0000359 {source="DC-OMIM:122600", source="DOID:0112363", source="MONDO:Redundant", source="OMIM:122600"} ! spondylocostal dysostosis intersection_of: MONDO:0000359 ! spondylocostal dysostosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11605 ! TBX6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11605 {source="MONDO:mim2gene_medgen"} ! TBX6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11605 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11605 {source="OMIM:122600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -149477,7 +149400,6 @@ xref: SCTID:702362004 {source="MONDO:equivalentTo"} xref: UMLS:C1852510 {source="MEDGEN:377694", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015161 {source="Orphanet:1529"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1529", source="Orphanet:1529/inferred"} ! disorder of development or morphogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8617 {source="MONDO:mim2gene_medgen"} ! PAX3 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1571/craniofacial-deafness-hand-syndrome" xsd:anyURI {source="GARD:0001571"} [Term] @@ -149528,7 +149450,6 @@ xref: OMIM:123000 {source="MONDO:equivalentTo"} xref: Orphanet:1522 {source="OMIM:123000"} xref: UMLS:C1852502 {source="MEDGEN:338945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015465 {source="DC-OMIM:123000", source="DOID:0080801", source="OMIM:123000"} ! craniometaphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15492 {source="MONDO:mim2gene_medgen"} ! ANKH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -149578,7 +149499,6 @@ xref: UMLS:C4551902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015469 {source="MONDO:Redundant", source="OMIM:123100", source="https://orcid.org/0000-0002-6601-2165"} ! craniosynostosis is_a: MONDO:0018971 {source="Orphanet:63440/btnt"} ! isolated oxycephaly relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007399 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12428 {source="MONDO:mim2gene_medgen"} ! TWIST1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2659" xsd:anyURI [Term] @@ -149655,7 +149575,6 @@ xref: MEDGEN:69128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:123320 {source="MONDO:equivalentTo"} xref: UMLS:C0241005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:69128"} is_a: MONDO:0003847 {source="OMIM:123320/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 {source="MONDO:mim2gene_medgen"} ! CAV3 [Term] id: MONDO:0007403 @@ -149790,7 +149709,6 @@ is_a: MONDO:0018234 {source="DOID:2339/inferred", source="MESH:D003394", source= relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007405 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0000486 ! Strabismus relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 {source="MONDO:mim2gene_medgen"} ! FGFR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome" xsd:anyURI {source="GARD:0006206"} @@ -149930,7 +149848,6 @@ is_a: MONDO:0100237 {source="DOID:0070130/inferred", source="MONDO:Redundant", s intersection_of: MONDO:0019571 ! autosomal dominant cutis laxa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3327 ! ELN relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:123700"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3327 {source="MONDO:mim2gene_medgen"} ! ELN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -149973,7 +149890,6 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder relationship: excluded_subClassOf MONDO:0021154 {source="Orphanet:1555", source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:123790", source="Orphanet:1555"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 {source="MONDO:mim2gene_medgen"} ! FGFR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -150071,7 +149987,6 @@ is_a: MONDO:0015448 {source="DOID:0080111", source="MONDO:Redundant", source="Or is_a: MONDO:0020811 {source="OMIM:124000", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1020 ! BCS1L -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1020 {source="MONDO:mim2gene_medgen"} ! BCS1L property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8295/mitochondrial-complex-iii-deficiency" xsd:anyURI {source="GARD:0008295"} [Term] @@ -150146,7 +150061,6 @@ xref: UMLS:C0022595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= xref: Wikipedia:Darier%27s_disease is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/812 {source="MONDO:mim2gene_medgen"} ! ATP2A2 [Term] id: MONDO:0007418 @@ -150200,7 +150114,6 @@ xref: Orphanet:79499 {source="OMIM:124480", source="MONDO:equivalentTo"} xref: UMLS:C2675730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382676"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0002254 {source="DOID:0080720", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/854 {source="MONDO:mim2gene_medgen"} ! ATP6V1B2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4732/autosomal-dominant-deafness-onychodystrophy-syndrome" xsd:anyURI {source="GARD:0004732"} @@ -150257,7 +150170,6 @@ xref: SCTID:24559001 {source="MONDO:equivalentTo"} xref: UMLS:C0265964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78579"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 {source="MONDO:mim2gene_medgen"} ! GJB2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -150302,7 +150214,6 @@ xref: UMLS:C1852282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019587 {source="DC-OMIM:124900", source="DOID:0110541", source="MONDO:Redundant", source="OMIM:124900"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2876 ! DIAPH1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2876 {source="MONDO:mim2gene_medgen"} ! DIAPH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -150378,7 +150289,6 @@ xref: Orphanet:3212 {source="OMIM:125250", source="MONDO:relatedTo"} xref: UMLS:C3276549 {source="MEDGEN:478179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0014720 {source="Orphanet:1215/btnt"} ! autosomal dominant optic atrophy plus syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:125250"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8140 {source="MONDO:mim2gene_medgen"} ! OPA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -150466,7 +150376,6 @@ xref: OMIM:125350 {source="Orphanet:412206", source="MONDO:equivalentTo", source xref: Orphanet:412206 {source="OMIM:125350", source="MONDO:equivalentTo"} xref: UMLS:C1852222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338882"} is_a: MONDO:0003847 {source="Orphanet:412206/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9608 {source="MONDO:mim2gene_medgen"} ! PTH1R [Term] id: MONDO:0007435 @@ -150509,7 +150418,6 @@ is_a: MONDO:0005559 {source="DOID:0060162/inferred", source="MONDO:Redundant", s is_a: MONDO:0015548 {source="Orphanet:101"} ! Huntington disease-like syndrome is_a: MONDO:0019794 {source="Orphanet:101"} ! autosomal dominant cerebellar ataxia type IV relationship: disease_has_feature HP:0002503 ! Spinocerebellar tract degeneration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3033 {source="MONDO:mim2gene_medgen"} ! ATN1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5643/dentatorubral-pallidoluysian-atrophy" xsd:anyURI {source="GARD:0005643"} [Term] @@ -150545,7 +150453,7 @@ xref: SCTID:109493006 {source="MONDO:equivalentTo"} xref: UMLS:C0399379 {source="MEDGEN:97996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="Orphanet:99789/inferred"} ! hereditary disease is_a: MONDO:0015613 {source="DC-OMIM:125400", source="MESH:C538215", source="Orphanet:99789"} ! dentin dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20323 {source="MONDO:mim2gene_medgen"} ! SMOC2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20323 {source="OMIM:125400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1807/dentin-dysplasia-type-1" xsd:anyURI {source="GARD:0001807"} @@ -150580,7 +150488,6 @@ xref: SCTID:109494000 {source="MONDO:equivalentTo"} xref: UMLS:C1527284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:315928"} is_a: MONDO:0003847 {source="Orphanet:99791/inferred"} ! hereditary disease is_a: MONDO:0015613 {source="DC-OMIM:125420", source="OMIM:125420", source="Orphanet:99791"} ! dentin dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3054 {source="MONDO:mim2gene_medgen"} ! DSPP [Term] id: MONDO:0007438 @@ -150661,7 +150568,6 @@ xref: Orphanet:166260 {source="MONDO:equivalentTo", source="OMIM:125490"} xref: UMLS:C2973527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:424922"} is_a: MONDO:0003847 {source="Orphanet:166260/inferred"} ! hereditary disease is_a: MONDO:0018849 {source="DC-OMIM:125490", source="Orphanet:166260"} ! dentinogenesis imperfecta -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3054 {source="MONDO:mim2gene_medgen"} ! DSPP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -150693,7 +150599,6 @@ xref: SCTID:234970006 {source="MONDO:equivalentTo"} xref: UMLS:C0399378 {source="MEDGEN:97995", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="Orphanet:166265/inferred"} ! hereditary disease is_a: MONDO:0018849 {source="DC-OMIM:125500", source="MESH:C538216", source="Orphanet:166265"} ! dentinogenesis imperfecta -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3054 {source="MONDO:mim2gene_medgen"} ! DSPP property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10144/dentinogenesis-imperfecta-type-3" xsd:anyURI {source="GARD:0010144"} [Term] @@ -150760,7 +150665,6 @@ xref: UMLS:C0406778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="DOID:0111342", source="Orphanet:86920"} ! ectodermal dysplasia syndrome is_a: MONDO:0019289 {source="Orphanet:86920"} ! hyperpigmentation of the skin -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6416 {source="MONDO:mim2gene_medgen"} ! KRT14 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8550/dermatopathia-pigmentosa-reticularis" xsd:anyURI {source="GARD:0008550"} [Term] @@ -150815,7 +150719,7 @@ is_a: MONDO:0005492 {source="Orphanet:493342", source="Orphanet:493348"} ! urtic is_a: MONDO:0006618 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! vibratory urticaria intersection_of: MONDO:0006618 ! vibratory urticaria intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3337 {source="MONDO:mim2gene_medgen"} ! ADGRE2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3337 {source="OMIM:125630"} [Term] id: MONDO:0007448 @@ -150936,7 +150840,7 @@ is_a: MONDO:0015790 {source="DOID:12388", source="Orphanet:30925"} ! central dia intersection_of: MONDO:0004782 ! diabetes insipidus intersection_of: disease_has_location UBERON:0000007 ! pituitary gland relationship: has_characteristic HP:0000006 {source="OMIM:125700"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/894 {source="MONDO:mim2gene_medgen"} ! AVP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/894 {source="OMIM:125700"} [Term] id: MONDO:0007451 @@ -150956,7 +150860,7 @@ xref: Orphanet:223 {source="OMIM:125800"} xref: UMLS:C1563706 {source="MEDGEN:289643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004782 {source="DC-OMIM:125800", source="MONDO:Redundant", source="MONDO:indirect"} ! diabetes insipidus is_a: MONDO:0016383 {source="DOID:0081061", source="Orphanet:223/btnt"} ! nephrogenic diabetes insipidus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/634 {source="MONDO:mim2gene_medgen"} ! AQP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/634 {source="OMIM:125800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -150991,7 +150895,6 @@ xref: Orphanet:552 {source="OMIM:125850"} xref: SCTID:609562003 {source="MONDO:equivalentTo"} xref: UMLS:C1852093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377589"} is_a: MONDO:0018911 {source="DC-OMIM:125850", source="DOID:0111099"} ! maturity-onset diabetes of the young -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5024 {source="MONDO:mim2gene_medgen"} ! HNF4A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3418/maturity-onset-diabetes-of-the-young-type-1" xsd:anyURI {source="GARD:0003418"} @@ -151029,7 +150932,6 @@ xref: UMLS:C0342277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018911 {source="DC-OMIM:125851", source="DOID:0111100", source="MONDO:Redundant"} ! maturity-onset diabetes of the young intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4195 ! GCK -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4195 {source="MONDO:mim2gene_medgen"} ! GCK property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10657/maturity-onset-diabetes-of-the-young-type-2" xsd:anyURI {source="GARD:0010657"} @@ -151055,7 +150957,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0005147 {source="OMIM:125852"} ! type 1 diabetes mellitus relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:125852", source="DOID:0110741", source="MESH:C565100", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6081 {source="MONDO:mim2gene_medgen"} ! INS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI [Term] @@ -151280,6 +151181,7 @@ is_a: MONDO:0018230 {source="Orphanet:85192"} ! skeletal dysplasia is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. relationship: disease_has_feature HP:0004349 {source="Orphanet:85192"} ! Reduced bone mineral density relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:85192", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28395 {source="OMIM:126550"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -151314,7 +151216,6 @@ xref: UMLS:C1832174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0006949 {source="DOID:0060745"} ! retinal drusen is_a: MONDO:0016420 {source="Orphanet:75376"} ! familial flecked retinopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007471 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3218 {source="MONDO:mim2gene_medgen"} ! EFEMP1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy" xsd:anyURI {source="GARD:0001912"} [Term] @@ -151343,7 +151244,6 @@ intersection_of: disease_has_location UBERON:0003957 ! Bruch's membrane intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4883 ! CFH relationship: disease_has_location UBERON:0003957 ! Bruch's membrane relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4883 {source="MONDO:mim2gene_medgen"} ! CFH [Term] id: MONDO:0007473 @@ -151507,7 +151407,6 @@ is_a: MONDO:0016516 {source="DC-OMIM:127000", source="DOID:0080723", source="MON is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder intersection_of: MONDO:0016516 ! Kenny-Caffey syndrome intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24725 {source="MONDO:mim2gene_medgen"} ! FAM111A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/83/kenny-caffey-syndrome-type-2" xsd:anyURI {source="GARD:0000083"} @@ -151638,7 +151537,6 @@ xref: UMLS:C0406775 {source="MONDO:equivalentTo", source="MEDGEN:96071", source= is_a: MONDO:0000118 {source="DC-OMIM:127400", source="OMIM:127400"} ! reticulate pigment disorder is_a: MONDO:0019289 {source="Orphanet:41"} ! hyperpigmentation of the skin is_a: MONDO:0700261 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! ADAR-related type 1 interferonopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/225 {source="MONDO:mim2gene_medgen"} ! ADAR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI [Term] @@ -151723,7 +151621,6 @@ xref: UMLS:C1851967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21493 ! DNAAF4 intersection_of: predisposes_towards MONDO:0005489 ! dyslexia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21493 {source="MONDO:mim2gene_medgen"} ! DNAAF4 [Term] id: MONDO:0007488 @@ -151761,6 +151658,7 @@ xref: SCTID:80098002 {source="DOID:12217"} xref: UMLS:C0752347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199874"} is_a: MONDO:0000510 {source="DOID:12217"} ! synucleinopathy is_a: MONDO:0001627 {source="DOID:12217", source="MONDO:Redundant", source="NCIT:C84826"} ! dementia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11140 {source="OMIM:127750"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -151888,7 +151786,6 @@ xref: UMLS:C1851945 {source="MONDO:equivalentTo", source="MEDGEN:338823", source is_a: MONDO:0000476 {source="DOID:0060730", source="MESH:C538005", source="MONDO:indirect"} ! generalized dystonia is_a: MONDO:0044807 {source="DOID:0060730/inferred", source="MESH:C538005/inferred", source="MONDO:Redundant", source="NCIT:C116718", source="OMIM:128100"} ! inherited dystonia is_a: MONDO:0100016 {source="MONDO:nv"} ! early-onset generalized dystonia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3098 {source="MONDO:mim2gene_medgen"} ! TOR1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2027/early-onset-generalized-dystonia" xsd:anyURI {source="GARD:0002027"} @@ -151969,7 +151866,6 @@ is_a: MONDO:0044807 {source="DOID:0090043", source="MONDO:Redundant", source="OM is_a: MONDO:0100184 {source="https://github.com/monarch-initiative/mondo/issues/1491", source="https://orcid.org/0000-0002-5655-9589"} ! GTP cyclohydrolase I deficiency is_a: MONDO:0971063 {source="Orphanet:98808", source="https://orcid.org/0000-0002-4142-7153"} ! autosomal dominant dopa-responsive dystonia relationship: disease_responds_to CHEBI:15765 ! L-dopa -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4193 {source="MONDO:mim2gene_medgen"} ! GCH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8071" xsd:string @@ -152010,7 +151906,6 @@ is_a: MONDO:0021095 {source="Orphanet:71517"} ! parkinsonian disorder is_a: MONDO:0044807 {source="DOID:0090056", source="MESH:C538001", source="MONDO:Redundant", source="OMIM:128235"} ! inherited dystonia intersection_of: MONDO:0044807 ! inherited dystonia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/801 ! ATP1A3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/801 {source="MONDO:mim2gene_medgen"} ! ATP1A3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -152168,7 +152063,6 @@ xref: UMLS:C0406707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18398 {source="MONDO:mim2gene_medgen"} ! SMARCAD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2336/absence-of-fingerprints-congenital-milia" xsd:anyURI {source="GARD:0002336"} @@ -152206,7 +152100,6 @@ is_a: MONDO:0004747 {source="MESH:C535289"} ! cleft lip is_a: MONDO:0016064 {source="MESH:C535289"} ! cleft palate is_a: MONDO:0019287 {source="DOID:0060330", source="MESH:C535289"} ! ectodermal dysplasia syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:129400"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 {source="MONDO:mim2gene_medgen"} ! TP63 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome" xsd:anyURI {source="GARD:0005690"} [Term] @@ -152274,7 +152167,6 @@ is_a: MONDO:0019287 {source="DOID:14693", source="OMIM:129500", source="Orphanet relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007510 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0005243 {source="https://ghr.nlm.nih.gov/condition/clouston-syndrome#genes"} ! gap junction channel activity relationship: disease_has_feature HP:0007447 ! Diffuse palmoplantar hyperkeratosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4288 {source="MONDO:mim2gene_medgen"} ! GJB6 [Term] id: MONDO:0007511 @@ -152343,7 +152235,6 @@ xref: UMLS:C3541518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015998 {source="DC-OMIM:129600", source="DOID:0111150", source="MONDO:Redundant", source="OMIM:129600"} ! isolated ectopia lentis intersection_of: MONDO:0015998 ! isolated ectopia lentis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 ! FBN1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -152545,7 +152436,6 @@ xref: Orphanet:285 {source="MONDO:equivalentTo", source="OMIM:130020"} xref: SCTID:30652003 {source="DOID:14757", source="MONDO:equivalentTo"} xref: UMLS:C0268337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75670"} is_a: MONDO:0020066 {source="DC-OMIM:130020", source="DOID:14757", source="MESH:C536196", source="NCIT:C125698", source="OMIM:130020", source="Orphanet:285"} ! Ehlers-Danlos syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2201 {source="MONDO:mim2gene_medgen"} ! COL3A1 [Term] id: MONDO:0007524 @@ -152572,7 +152462,6 @@ is_a: MONDO:0000426 {source="DOID:14756"} ! autosomal dominant disease is_a: MONDO:0017314 {source="MONDO:Redundant", source="MONDO:pr", source="Orphanet:286"} ! Ehlers-Danlos syndrome, vascular type intersection_of: MONDO:0017314 ! Ehlers-Danlos syndrome, vascular type intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2201 {source="MONDO:mim2gene_medgen"} ! COL3A1 [Term] id: MONDO:0007525 @@ -152794,7 +152683,6 @@ xref: UMLS:C1851741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017319 {source="DC-OMIM:130600", source="MESH:C565058", source="MONDO:Redundant"} ! hereditary elliptocytosis intersection_of: MONDO:0017319 ! hereditary elliptocytosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11272 ! SPTA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11272 {source="MONDO:mim2gene_medgen"} ! SPTA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -152838,6 +152726,7 @@ is_a: MONDO:0019716 {source="Orphanet:116"} ! overgrowth syndrome relationship: excluded_subClassOf MONDO:0015496 {source="Orphanet:116", source="https://orcid.org/0000-0001-5208-3432"} ! macroglossia relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:116", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations relationship: excluded_subClassOf MONDO:0019721 {source="Orphanet:116", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic renal or urinary tract malformation +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6295 {source="OMIM:130650"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome" xsd:anyURI {source="GARD:0003343"} [Term] @@ -152906,7 +152795,6 @@ xref: OMIM:130720 {source="MONDO:equivalentTo", source="Orphanet:2789", source=" xref: Orphanet:2789 {source="MONDO:equivalentTo", source="OMIM:130720"} xref: UMLS:C1851710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342070"} is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7883 {source="MONDO:mim2gene_medgen"} ! NOTCH3 [Term] id: MONDO:0007538 @@ -152941,8 +152829,8 @@ is_a: MONDO:0003847 {source="Orphanet:100032/inferred"} ! hereditary disease is_a: MONDO:0019507 {source="DC-OMIM:130900", source="DOID:0110055", source="MESH:C562880", source="MONDO:Redundant", source="OMIM:130900", source="Orphanet:100032"} ! amelogenesis imperfecta is_a: MONDO:0968955 {source="https://orcid.org/0000-0001-5493-2602"} ! hypocalcified amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24797 ! FAM83H -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24797 {source="MONDO:mim2gene_medgen"} ! FAM83H +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24797 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24797 {source="OMIM:130900"} [Term] id: MONDO:0007539 @@ -153030,7 +152918,6 @@ intersection_of: MONDO:0017169 ! multiple endocrine neoplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7010 ! MEN1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007540 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:131100", source="Orphanet:652"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7010 {source="MONDO:mim2gene_medgen"} ! MEN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1" xsd:anyURI {source="GARD:0003829"} @@ -153090,7 +152977,6 @@ is_a: MONDO:0018230 {source="Orphanet:1328"} ! skeletal dysplasia relationship: disease_has_feature HP:0011001 {source="Orphanet:1328"} ! Increased bone mineral density relationship: excluded_subClassOf MONDO:0002933 {source="DOID:4997", source="https://orcid.org/0000-0001-5208-3432"} ! osteosclerosis relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:1328", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11766 {source="MONDO:mim2gene_medgen"} ! TGFB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -153143,7 +153029,6 @@ xref: Orphanet:86830 {source="OMIM:131440"} xref: UMLS:C1851585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377060"} is_a: MONDO:0019452 {source="Orphanet:86830/btnt"} ! myeloproliferative neoplasm, unclassifiable is_a: MONDO:0020076 {source="MONDO:Redundant", source="MONDO:indirect"} ! myeloproliferative neoplasm -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8804 {source="MONDO:mim2gene_medgen"} ! PDGFRB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -153199,7 +153084,6 @@ xref: OMIM:131705 {source="Orphanet:79411/e", source="MONDO:equivalentTo", sourc xref: Orphanet:79411 {source="OMIM:131705", source="MONDO:equivalentTo"} xref: UMLS:C1851573 {source="MEDGEN:343607", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006543 {source="DOID:0111345", source="Orphanet:79411"} ! epidermolysis bullosa dystrophica -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10010/transient-bullous-dermolysis-of-the-newborn" xsd:anyURI {source="GARD:0010010"} @@ -153242,7 +153126,6 @@ xref: Orphanet:231568 {source="MONDO:equivalentTo", source="OMIM:131750"} xref: SCTID:75875004 {source="MONDO:equivalentTo"} xref: UMLS:C0432322 {source="MEDGEN:140935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006543 {source="DC-OMIM:131750", source="DOID:0080224", source="Orphanet:231568"} ! epidermolysis bullosa dystrophica -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -153348,7 +153231,6 @@ xref: Orphanet:79410 {source="MONDO:equivalentTo", source="OMIM:131850"} xref: SCTID:67653003 {source="MONDO:equivalentTo"} xref: UMLS:C0432321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98154"} is_a: MONDO:0006543 {source="DC-OMIM:131850", source="DOID:0080988", source="MESH:C535494", source="Orphanet:79410"} ! epidermolysis bullosa dystrophica -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1 [Term] id: MONDO:0007553 @@ -153431,7 +153313,6 @@ xref: Orphanet:79401 {source="MONDO:equivalentTo", source="DOID:0060736", source xref: SCTID:398071000 {source="MONDO:equivalentTo"} xref: UMLS:C0432317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98488"} is_a: MONDO:0017610 {source="DOID:0060736", source="OMIM:131950", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="MONDO:mim2gene_medgen"} ! PLEC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2148/epidermolysis-bullosa-simplex-ogna-type" xsd:anyURI {source="GARD:0002148"} @@ -153464,7 +153345,6 @@ xref: Orphanet:79397 {source="MONDO:equivalentTo", source="OMIM:131960"} xref: SCTID:254180002 {source="MONDO:equivalentTo"} xref: UMLS:C0432316 {source="MEDGEN:140934", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017610 {source="DOID:0111346", source="OMIM:131960", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6442 {source="MONDO:mim2gene_medgen"} ! KRT5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9737/epidermolysis-bullosa-simplex-with-mottled-pigmentation" xsd:anyURI {source="GARD:0009737"} @@ -153484,7 +153364,6 @@ xref: SCTID:2689001 {source="MONDO:equivalentTo"} xref: UMLS:C0268371 {source="MEDGEN:82797", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="MESH:C562638/inferred"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -153582,7 +153461,6 @@ xref: UMLS:C1838280 {source="MEDGEN:325376", source="MONDO:equivalentTo", source is_a: MONDO:0016648 {source="DC-OMIM:132400", source="DOID:0070303", source="MONDO:Redundant", source="OMIM:132400", source="Orphanet:93308"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2227 ! COMP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2227 {source="MONDO:mim2gene_medgen"} ! COMP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2180/multiple-epiphyseal-dysplasia-1" xsd:anyURI {source="GARD:0002180"} @@ -153610,7 +153488,6 @@ xref: SCTID:719689005 {source="MONDO:equivalentTo"} xref: UMLS:C1851536 {source="MEDGEN:377049", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016648 {source="Orphanet:166011"} ! multiple epiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:166011"} ! type 2 collagenopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -153691,7 +153568,6 @@ xref: Orphanet:79493 {source="OMIM:132700"} xref: UMLS:C1851526 {source="MEDGEN:343593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011512 {source="Orphanet:211"} ! Brooke-Spiegler syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:132700", source="Orphanet:211"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2584 {source="MONDO:mim2gene_medgen"} ! CYLD [Term] id: MONDO:0007566 @@ -153738,7 +153614,6 @@ is_a: MONDO:0015356 {source="NCIT:C4461"} ! hereditary neoplastic syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007566 {source="MONDO:CLINGEN"} relationship: disease_has_feature MONDO:0002527 {source="NCIT:C4461"} ! keratoacanthoma relationship: disease_has_feature MONDO:0020173 {source="Orphanet:65748"} ! benign tumor of palpebral epidermis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11772 {source="MONDO:NCIT", source="MONDO:mim2gene_medgen"} ! TGFBR1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3090/multiple-self-healing-squamous-epithelioma" xsd:anyURI {source="GARD:0003090"} [Term] @@ -153777,7 +153652,6 @@ xref: UMLS:C1851504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:132900", source="Orphanet:91387/btnt"} ! familial thoracic aortic aneurysm and aortic dissection intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7569 ! MYH11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7569 {source="MONDO:mim2gene_medgen"} ! MYH11 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9876/aortic-aneurysm-familial-thoracic-4" xsd:anyURI {source="GARD:0009876"} [Term] @@ -153847,7 +153721,6 @@ xref: Orphanet:90026 {source="OMIM:133020", source="MONDO:equivalentTo"} xref: SCTID:709489006 {source="MONDO:equivalentTo"} xref: UMLS:C0014805 {source="MEDGEN:8688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016028 {source="NCIT:C125383"} ! erythromelalgia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10597 {source="MONDO:mim2gene_medgen"} ! SCN9A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -153894,8 +153767,8 @@ xref: UMLS:C4551637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0001115 {source="DC-OMIM:133100", source="DOID:0060652", source="MONDO:Redundant", source="OMIM:133100"} ! familial polycythemia is_a: MONDO:0005570 {source="MONDO:Entailed", source="Orphanet:90042", source="Orphanet:90042/inferred"} ! hematologic disorder intersection_of: MONDO:0001115 ! familial polycythemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3416 ! EPOR -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3416 {source="MONDO:mim2gene_medgen"} ! EPOR +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3416 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3416 {source="OMIM:133100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9843/familial-erythrocytosis-1" xsd:anyURI {source="GARD:0009843"} @@ -154184,7 +154057,6 @@ is_a: MONDO:0005508 {source="DC-OMIM:133700", source="MONDO:Redundant", source=" intersection_of: MONDO:0005508 ! hereditary multiple osteochondromas intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3512 ! EXT1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007585 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3512 {source="MONDO:mim2gene_medgen"} ! EXT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2204/exostoses-multiple-type-1" xsd:anyURI {source="GARD:0002204"} @@ -154214,7 +154086,6 @@ is_a: MONDO:0005508 {source="DC-OMIM:133701", source="MONDO:Redundant", source=" intersection_of: MONDO:0005508 ! hereditary multiple osteochondromas intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3513 ! EXT2 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007586 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3513 {source="MONDO:mim2gene_medgen"} ! EXT2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2205/exostoses-multiple-type-2" xsd:anyURI {source="GARD:0002205"} [Term] @@ -154482,7 +154353,6 @@ xref: OMIM:134610 {source="MONDO:equivalentTo"} xref: Orphanet:342 {source="OMIM:134610"} xref: UMLS:C1851347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341987"} is_a: MONDO:0018088 {source="DC-OMIM:134610", source="MESH:C565021"} ! familial Mediterranean fever -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6998 {source="MONDO:mim2gene_medgen"} ! MEFV property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -154625,7 +154495,7 @@ is_a: MONDO:0003847 {source="NCIT:C3040", source="Orphanet:337/inferred"} ! here is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder is_a: MONDO:0019296 {source="Orphanet:337"} ! subcutaneous tissue disorder relationship: excluded_subClassOf MONDO:0018231 {source="Orphanet:337", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/171 {source="MONDO:mim2gene_medgen"} ! ACVR1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/171 {source="OMIM:135100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -154681,7 +154551,6 @@ xref: Orphanet:873 {source="MONDO:equivalentTo"} xref: UMLS:C0079218 {source="MEDGEN:38187", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005031 {source="MONDO:Redundant", source="NCIT:C9182"} ! fibromatosis is_a: MONDO:0006424 {source="Orphanet:873"} ! soft tissue neoplasm -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/583 {source="MONDO:mim2gene_medgen"} ! APC [Term] id: MONDO:0007609 @@ -154712,7 +154581,6 @@ xref: UMLS:C4551558 {source="MEDGEN:1647111", source="MONDO:equivalentTo", sourc is_a: MONDO:0016070 {source="DC-OMIM:135300", source="MONDO:Redundant", source="OMIM:135300"} ! hereditary gingival fibromatosis intersection_of: MONDO:0016070 ! hereditary gingival fibromatosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11187 ! SOS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11187 {source="MONDO:mim2gene_medgen"} ! SOS1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6509/gingival-fibromatosis-1" xsd:anyURI {source="GARD:0006509"} [Term] @@ -154754,6 +154622,7 @@ xref: SCTID:716008002 {source="MONDO:equivalentTo"} xref: UMLS:C1851120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342675"} is_a: MONDO:0019280 {source="DC-OMIM:135400", source="MESH:C565016", source="Orphanet:2026"} ! hypertrichosis is_a: MONDO:0019287 {source="Orphanet:2026"} ! ectodermal dysplasia syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/35 {source="OMIM:135400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2324/gingival-fibromatosis-with-hypertrichosis" xsd:anyURI {source="GARD:0002324"} @@ -154871,7 +154740,6 @@ xref: SCTID:715440003 {source="MONDO:equivalentTo"} xref: UMLS:C1851100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340697"} is_a: MONDO:0019054 {source="Orphanet:2378"} ! congenital limb malformation is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13243 {source="MONDO:mim2gene_medgen"} ! LMBR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/155/laurin-sandrow-syndrome" xsd:anyURI {source="GARD:0000155"} @@ -154919,7 +154787,7 @@ is_a: MONDO:0015452 {source="DC-OMIM:135900", source="DOID:0070042", source="OMI is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070042", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18040 {source="MONDO:mim2gene_medgen"} ! ARID1B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18040 {source="OMIM:135900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9945/hypertrichosis-hyperkeratosis-mental-retardation-and-distinctive-facial-features" xsd:anyURI {source="GARD:0009945"} @@ -154973,7 +154841,6 @@ xref: SCTID:763748007 {source="MONDO:equivalentTo"} xref: UMLS:C1852150 {source="MEDGEN:338875", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000426 {source="DOID:0111357"} ! autosomal dominant disease is_a: MONDO:0005093 {source="DOID:0111357"} ! skin disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18398 {source="MONDO:mim2gene_medgen"} ! SMARCAD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -155004,7 +154871,6 @@ xref: Orphanet:79292 {source="OMIM:136120", source="MONDO:equivalentTo"} xref: SCTID:238092004 {source="MONDO:equivalentTo"} xref: UMLS:C0342895 {source="MEDGEN:83354", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018999 {source="Orphanet:79292", source="https://orcid.org/0000-0001-5208-3432"} ! LCAT deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6522 {source="MONDO:mim2gene_medgen"} ! LCAT property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6450/fish-eye-disease" xsd:anyURI {source="GARD:0006450"} [Term] @@ -155042,7 +154908,6 @@ xref: UMLS:C0729582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015159 {source="Orphanet:2044"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007621 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2044", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16974 {source="MONDO:mim2gene_medgen"} ! SRCAP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6455/floating-harbor-syndrome" xsd:anyURI {source="GARD:0006455"} @@ -155183,7 +155048,6 @@ is_a: MONDO:0044203 {source="MONDO:Redundant", source="OMIM:136520"} ! foveal hy is_a: MONDO:0800183 {source="https://clinicalgenome.org/affiliation/40077/", source="https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! PAX6-related ocular dysgenesis intersection_of: MONDO:0044203 ! foveal hypoplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8620 ! PAX6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8620 {source="MONDO:mim2gene_medgen"} ! PAX6 [Term] id: MONDO:0007629 @@ -155263,7 +155127,6 @@ is_a: MONDO:0002254 {source="NCIT:C129875"} ! syndromic disease is_a: MONDO:0016894 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the short arm of chromosome 16 relationship: disease_arises_from_structure CHR:9606-chr16p12.1 {source="https://orcid.org/0000-0002-4142-7153"} ! 16p12.1 (Human) relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3861 {source="MONDO:mim2gene_medgen"} ! FRA16E property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI [Term] @@ -155300,7 +155163,7 @@ xref: MESH:C566980 {source="MONDO:equivalentTo"} xref: OMIM:136630 {source="MONDO:equivalentTo"} xref: UMLS:C1969893 {source="MEDGEN:369613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="MESH:C566980/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29284 {source="MONDO:mim2gene_medgen"} ! DIP2B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29284 {source="OMIM:136630"} [Term] id: MONDO:0007635 @@ -155333,7 +155196,6 @@ is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0020040 ! 46,XY disorder of sex development is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:136680", source="Orphanet:347"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12796 {source="MONDO:mim2gene_medgen"} ! WT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome" xsd:anyURI {source="GARD:0002375"} @@ -155370,7 +155232,7 @@ xref: Orphanet:391474 {source="OMIM:136760", source="MONDO:equivalentTo"} xref: UMLS:C5574965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803615"} is_a: MONDO:0016643 {source="DC-OMIM:136760", source="DOID:0081045", source="OMIM:136760", source="Orphanet:391474"} ! frontonasal dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007636 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/449 {source="MONDO:mim2gene_medgen"} ! ALX3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/449 {source="OMIM:136760"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -155395,7 +155257,6 @@ xref: UMLS:C1850959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005321 {source="DC-OMIM:136800", source="MESH:C535478", source="MONDO:Redundant", source="OMIM:136800"} ! Fuchs' endothelial dystrophy intersection_of: MONDO:0005321 ! Fuchs' endothelial dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2216 ! COL8A2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2216 {source="MONDO:mim2gene_medgen"} ! COL8A2 [Term] id: MONDO:0007638 @@ -155437,6 +155298,7 @@ xref: UMLS:C0311338 {source="MEDGEN:86317", source="MONDO:equivalentTo", source= is_a: MONDO:0016420 {source="Orphanet:227796"} ! familial flecked retinopathy is_a: MONDO:0100443 {source="https://clinicalgenome.org/affiliation/40072/"} ! RDH5-related retinopathy is_a: MONDO:0100444 {source="https://clinicalgenome.org/affiliation/40072/"} ! RLBP1-related retinopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9940 {source="OMIM:136880"} [Term] id: MONDO:0007640 @@ -155470,7 +155332,7 @@ xref: SCTID:193410003 {source="MONDO:equivalentTo"} xref: UMLS:C1850938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338164"} is_a: MONDO:0019118 {source="DOID:0090114"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007640 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11822 {source="MONDO:mim2gene_medgen"} ! TIMP3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11822 {source="OMIM:136900"} [Term] id: MONDO:0007641 @@ -155580,7 +155442,7 @@ xref: Orphanet:324442 {source="OMIM:137200", source="MONDO:equivalentTo"} xref: SCTID:711406009 {source="MONDO:equivalentTo"} xref: UMLS:C5700127 {source="MONDO:equivalentTo", source="MEDGEN:1814513", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="DOID:0050526"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4912 {source="MONDO:mim2gene_medgen"} ! HINT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4912 {source="OMIM:137200"} [Term] id: MONDO:0007647 @@ -155687,7 +155549,6 @@ is_a: MONDO:0004949 {source="EFO:0000191", source="NCIT:C3898/inferred", source= is_a: MONDO:0017604 {source="DOID:0050909", source="NCIT:C3898", source="ONCOTREE:EMALT", source="Orphanet:52417"} ! marginal zone lymphoma intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0001961 ! mucosa-associated lymphoid tissue -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/989 {source="MONDO:mim2gene_medgen"} ! BCL10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -155871,7 +155732,6 @@ xref: SCTID:67155006 {source="MONDO:equivalentTo", source="DOID:4249"} xref: UMLS:C0017495 {source="MEDGEN:4886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005429 {source="DOID:4249", source="MESH:C535800", source="MESH:D016098", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-4142-7153"} ! prion disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9449 {source="MONDO:mim2gene_medgen"} ! PRNP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6671" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -155965,6 +155825,7 @@ is_a: MONDO:0002420 {source="DOID:11119", source="MESH:D005879"} ! tic disorder is_a: MONDO:0003847 {source="MESH:D005879/inferred"} ! hereditary disease is_a: MONDO:0005395 {source="MESH:D005879/inferred", source="NCIT:C35078"} ! movement disorder relationship: disease_has_feature HP:0100034 ! Motor tics +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4855 {source="OMIM:137580"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -155993,7 +155854,6 @@ is_a: MONDO:0019503 {source="MONDO:Redundant", source="OMIM:137600"} ! anterior is_a: MONDO:0019628 {source="Orphanet:91483/btnt"} ! Rieger anomaly intersection_of: MONDO:0011119 ! iridogoniodysgenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9005 ! PITX2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9005 {source="MONDO:mim2gene_medgen"} ! PITX2 [Term] id: MONDO:0007663 @@ -156037,8 +155897,8 @@ xref: Orphanet:98977 {source="OMIM:137750"} xref: UMLS:C1842028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333974"} is_a: MONDO:0020367 {source="MONDO:Redundant", source="Orphanet:98977/btnt"} ! juvenile open angle glaucoma intersection_of: MONDO:0020367 ! juvenile open angle glaucoma -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7610 ! MYOC -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7610 {source="MONDO:mim2gene_medgen"} ! MYOC +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7610 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7610 {source="OMIM:137750"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -156178,7 +156038,6 @@ xref: UMLS:C0431693 {source="MEDGEN:96569", source="MONDO:equivalentTo", source= is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123018"} ! syndromic disease is_a: MONDO:0018911 {source="DOID:0111101"} ! maturity-onset diabetes of the young relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007669 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11630 {source="MONDO:mim2gene_medgen"} ! HNF1B property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10221/maturity-onset-diabetes-of-the-young-type-5" xsd:anyURI {source="GARD:0010221"} [Term] @@ -156274,7 +156133,7 @@ xref: UMLS:C1841984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0024291 {source="Orphanet:83454", source="https://orcid.org/0000-0002-4142-7153"} ! vascular malformation relationship: excluded_subClassOf MONDO:0002299 {source="DOID:7996", source="MONDO:Redundant", source="NCIT:C5350", source="PMID:15689436", source="https://orcid.org/0000-0001-5208-3432"} ! glomangioma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14373 {source="MONDO:mim2gene_medgen"} ! GLMN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14373 {source="OMIM:138000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI [Term] @@ -156438,7 +156297,6 @@ is_a: MONDO:0015356 {source="Orphanet:276399"} ! hereditary neoplastic syndrome is_a: MONDO:0100216 {source="https://clinicalgenome.org/affiliation/40023/"} ! DICER1-related tumor predisposition intersection_of: MONDO:0000334 ! multinodular goiter intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17098 ! DICER1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17098 {source="MONDO:mim2gene_medgen"} ! DICER1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7051" xsd:anyURI [Term] @@ -156533,7 +156391,7 @@ is_a: MONDO:0000009 {source="DC-OMIM:139090", source="DOID:0111044", source="MON is_a: MONDO:0002254 {source="NCIT:C84741"} ! syndromic disease is_a: MONDO:0020117 {source="Orphanet:721"} ! alpha granule disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007686 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31928 {source="MONDO:mim2gene_medgen"} ! NBEAL2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31928 {source="OMIM:139090"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome" xsd:anyURI {source="GARD:0002562"} [Term] @@ -156584,7 +156442,6 @@ is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123815"} ! syndromi is_a: MONDO:0015159 {source="Orphanet:2588"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019695 {source="Orphanet:2588", source="PMID:31633310"} ! acromelic dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007688 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6770 {source="MONDO:mim2gene_medgen", source="https://clinicalgenome.org/affiliation/40006"} ! SMAD4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome" xsd:anyURI {source="GARD:0002572"} @@ -156637,7 +156494,6 @@ relationship: disease_has_feature MONDO:0015791 {source="Orphanet:178345"} ! per relationship: disease_has_location UBERON:0000990 ! reproductive system relationship: excluded_subClassOf MONDO:0016072 {source="Orphanet:178345", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete anomaly of puberty or/and menstrual cycle of genetic origin relationship: excluded_subClassOf MONDO:0018561 {source="Orphanet:178345", source="https://github.com/Orphanet/ORDO/issues/19", source="https://orcid.org/0000-0001-5208-3432"} ! precocious puberty in female -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2594 {source="MONDO:mim2gene_medgen"} ! CYP19A1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12494/aromatase-excess-syndrome" xsd:anyURI {source="GARD:0012494"} [Term] @@ -156672,7 +156528,6 @@ xref: UMLS:C4083008 {source="MEDGEN:901636", source="MONDO:equivalentTo", source is_a: MONDO:0005046 ! immune system disorder is_a: MONDO:0016218 {source="OMIM:139393", source="https://orcid.org/0000-0001-5208-3432"} ! Guillain-Barre syndrome relationship: excluded_subClassOf MONDO:0016170 {source="Orphanet:2932", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chronic polyradiculoneuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9118 {source="MONDO:mim2gene_medgen"} ! PMP22 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3467" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -156811,7 +156666,6 @@ is_a: MONDO:0015161 {source="Orphanet:2438"} ! multiple congenital anomalies/dys is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:140000", source="Orphanet:2438"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5102 {source="MONDO:mim2gene_medgen"} ! HOXA13 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI @@ -156874,7 +156728,6 @@ xref: UMLS:C0677607 {source="MEDGEN:151769", source="MONDO:equivalentTo", source xref: Wikipedia:Hashimoto's_thyroiditis {source="EFO:0003779"} is_a: MONDO:0005623 {source="EFO:0003779", source="MESH:D050031"} ! autoimmune thyroid disease is_a: MONDO:0007179 {source="DOID:7188/inferred", source="EFO:0003779/inferred", source="MESH:D050031/inferred", source="MONDO:Redundant", source="NCIT:C27191"} ! autoimmune disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2505 {source="MONDO:mim2gene_medgen"} ! CTLA4 [Term] id: MONDO:0007700 @@ -156903,7 +156756,6 @@ xref: SCTID:414380008 {source="MONDO:equivalentTo"} xref: UMLS:C2931042 {source="MEDGEN:419319", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017307 {source="Orphanet:2118", source="PMID:33340416"} ! disorder of tyrosine metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007700 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5147 {source="MONDO:mim2gene_medgen"} ! HPD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria" xsd:anyURI {source="GARD:0005668"} @@ -156987,7 +156839,6 @@ xref: UMLS:C3887526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6909 ! MATN3 intersection_of: predisposes_towards MONDO:0005178 ! osteoarthritis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6909 {source="MONDO:mim2gene_medgen"} ! MATN3 [Term] id: MONDO:0007705 @@ -157093,7 +156944,6 @@ xref: OMIM:141200 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0957317 {source="OMIM:141200", source="OMIMPS:141200"} ! hematuria, benign familial relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2204 {source="MONDO:mim2gene_medgen"} ! COL4A3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -157315,7 +157165,6 @@ xref: MESH:C564190 {source="MONDO:equivalentTo"} xref: OMIM:142330 {source="MONDO:equivalentTo"} xref: UMLS:C1840646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374515"} is_a: MONDO:0018902 {source="DOID:0111366"} ! hepatocellular adenoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11621 {source="MONDO:mim2gene_medgen"} ! HNF1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -157416,7 +157265,6 @@ xref: UMLS:C3888239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0100179 {source="DC-OMIM:142623", source="MONDO:Redundant", source="OMIM:142623"} ! Hirschsprung disease, susceptibility to intersection_of: MONDO:0100179 ! Hirschsprung disease, susceptibility to intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9967 ! RET -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9967 {source="MONDO:mim2gene_medgen"} ! RET property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI [Term] @@ -157490,7 +157338,6 @@ xref: Orphanet:2114 {source="OMIM:142669", source="MONDO:equivalentTo"} xref: SCTID:721148005 {source="MONDO:equivalentTo"} xref: UMLS:C1840572 {source="MEDGEN:333593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25640 {source="MONDO:mim2gene_medgen"} ! UFSP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -157539,7 +157386,6 @@ is_a: MONDO:0015137 {source="https://orcid.org/0000-0001-5208-3432"} ! periodic is_a: MONDO:0017953 {source="MESH:C536657", source="Orphanet:32960"} ! hereditary periodic fever syndrome is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119051", source="Orphanet:32960/inferred", source="PMID:23827249", source="PMID:35883675", source="https://orcid.org/0000-0001-7941-2961"} ! autoinflammatory syndrome relationship: excluded_subClassOf MONDO:0007179 {source="DOID:0090018", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11916 {source="MONDO:mim2gene_medgen"} ! TNFRSF1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI [Term] @@ -157560,8 +157406,8 @@ xref: Orphanet:387 {source="OMIM:142690"} xref: UMLS:C4551962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631104"} is_a: MONDO:0024516 {source="MONDO:Redundant", source="OMIM:142690"} ! familial acne inversa intersection_of: MONDO:0024516 ! familial acne inversa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17091 ! NCSTN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17091 {source="MONDO:mim2gene_medgen"} ! NCSTN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17091 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17091 {source="OMIM:142690"} [Term] id: MONDO:0007729 @@ -157647,7 +157493,7 @@ is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007732 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:142900", source="Orphanet:392"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11604 {source="MONDO:mim2gene_medgen"} ! TBX5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11604 {source="OMIM:142900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -157676,7 +157522,6 @@ xref: UMLS:C1840529 {source="MEDGEN:327125", source="MONDO:equivalentTo", source is_a: MONDO:0016296 {source="DC-OMIM:142945", source="DOID:0110875", source="MESH:C564181", source="MONDO:Redundant", source="OMIM:142945"} ! holoprosencephaly intersection_of: MONDO:0016296 ! holoprosencephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10848 ! SHH -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10848 {source="MONDO:mim2gene_medgen"} ! SHH [Term] id: MONDO:0007734 @@ -157699,8 +157544,8 @@ xref: Orphanet:2162 {source="OMIM:142946"} xref: UMLS:C1840528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374488"} is_a: MONDO:0016296 {source="DC-OMIM:142946", source="DOID:0110880", source="MESH:C564180", source="MONDO:Redundant", source="NCIT:C75475", source="OMIM:142946"} ! holoprosencephaly intersection_of: MONDO:0016296 ! holoprosencephaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11776 ! TGIF1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11776 {source="MONDO:mim2gene_medgen"} ! TGIF1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11776 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11776 {source="OMIM:142946"} [Term] id: MONDO:0007735 @@ -157807,7 +157652,7 @@ xref: UMLS:C1837657 {source="MEDGEN:373381", source="MONDO:equivalentTo", source is_a: MONDO:0000226 {source="PMID:33340416", source="https://orcid.org/0000-0002-5002-8648"} ! mineral metabolism disease is_a: MONDO:0016761 {source="DOID:0050813"} ! spondyloepiphyseal dysplasia relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:263463", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1971 {source="MONDO:mim2gene_medgen"} ! CHST3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1971 {source="OMIM:143095"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome" xsd:anyURI {source="GARD:0002533"} @@ -157853,7 +157698,6 @@ is_a: MONDO:0005559 {source="DOID:12858", source="MONDO:Redundant", source="NCIT relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007739 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0000657 {source="https://orcid.org/0000-0002-2825-0621"} ! Oculomotor apraxia relationship: disease_has_feature MONDO:0001627 {source="MONDO:Wikidata"} ! dementia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4851 {source="MONDO:mim2gene_medgen"} ! HTT [Term] id: MONDO:0007740 @@ -157893,7 +157737,7 @@ xref: SCTID:232064001 {source="MONDO:equivalentTo"} xref: UMLS:C1840452 {source="MEDGEN:326741", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020248 {source="Orphanet:898", source="https://orcid.org/0000-0001-5208-3432"} ! vitreoretinal degeneration relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007740 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2464 {source="MONDO:mim2gene_medgen"} ! VCAN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2464 {source="OMIM:143200"} [Term] id: MONDO:0007741 @@ -157926,7 +157770,6 @@ xref: MEDGEN:854659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:143460 {source="MONDO:equivalentTo"} xref: UMLS:C3887951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854659"} is_a: MONDO:0003847 {source="OMIM:143460/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5285 {source="MONDO:mim2gene_medgen"} ! HTOR [Term] id: MONDO:0007743 @@ -157977,7 +157820,6 @@ xref: Orphanet:79506 {source="OMIM:143470", source="MONDO:equivalentTo"} xref: SCTID:15771000119109 {source="MONDO:equivalentTo"} xref: UMLS:C3875011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:840020"} is_a: MONDO:0015903 {source="Orphanet:79506"} ! hyperalphalipoproteinemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1869 {source="MONDO:mim2gene_medgen"} ! CETP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -158014,7 +157856,6 @@ xref: SCTID:27503000 {source="MONDO:equivalentTo", source="DOID:2739"} xref: UMLS:C0017551 {source="MEDGEN:4891", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="NCIT:C84729"} ! syndromic disease is_a: MONDO:0002408 {source="DC-OMIM:143500", source="DOID:2739", source="MESH:D005878", source="NCIT:C84729", source="OMIM:143500"} ! hereditary hyperbilirubinemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12530 {source="MONDO:mim2gene_medgen"} ! UGT1A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -158055,7 +157896,7 @@ is_a: MONDO:0003847 {source="OMIM:143860/inferred"} ! hereditary disease is_a: MONDO:0006025 {source="DOID:0111371"} ! autosomal recessive disease is_a: MONDO:0021026 {source="Orphanet:542657"} ! hereditary epidermal appendage anomaly relationship: has_characteristic HP:0000007 {source="Orphanet:542657"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1371 {source="MONDO:mim2gene_medgen", source="Orphanet:542657"} ! CA12 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1371 {source="OMIM:143860"} [Term] id: MONDO:0007748 @@ -158077,7 +157918,7 @@ xref: Orphanet:2197 {source="OMIM:143870"} xref: SCTID:237886009 {source="MONDO:equivalentTo"} xref: UMLS:C0342639 {source="MONDO:equivalentTo", source="MEDGEN:137974", source="MONDO:MEDGEN"} is_a: MONDO:0002118 {source="https://orcid.org/0000-0001-5208-3432"} ! urinary system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21285 {source="MONDO:mim2gene_medgen"} ! ADCY10 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21285 {source="OMIM:143870"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -158144,7 +157985,6 @@ is_a: MONDO:0005439 {source="DC-OMIM:144010", source="OMIM:144010"} ! familial h intersection_of: MONDO:0005439 ! familial hypercholesterolemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/603 ! APOB relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007751 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/603 {source="MONDO:mim2gene_medgen"} ! APOB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -158302,6 +158142,7 @@ xref: SCTID:399955009 {source="MONDO:equivalentTo"} is_a: MONDO:0006590 {source="DOID:0080223", source="NCIT:C84693"} ! palmoplantar keratosis is_a: MONDO:0017666 {source="https://orcid.org/0000-0002-5002-8648"} ! diffuse palmoplantar keratoderma is_a: MONDO:0968949 {source="OMIM:144200"} ! palmoplantar keratoderma, epidermolytic +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6447 {source="OMIM:144200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2826/epidermolytic-palmoplantar-keratoderma" xsd:anyURI {source="GARD:0002826"} @@ -158320,7 +158161,6 @@ xref: MEDGEN:6965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:144250 {source="MONDO:equivalentTo"} xref: UMLS:C0020474 {source="MEDGEN:6965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001336 {source="DC-OMIM:144250"} ! familial hyperlipidemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6677 {source="MONDO:mim2gene_medgen"} ! LPL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -158413,7 +158253,6 @@ xref: SCTID:190781009 {source="DOID:1171"} xref: SCTID:34349009 {source="MONDO:equivalentTo", source="DOID:1171"} xref: UMLS:C0020481 {source="MEDGEN:5693", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001336 {source="DC-OMIM:144650", source="DOID:1171", source="MESH:D006954/inferred"} ! familial hyperlipidemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17288 {source="MONDO:mim2gene_medgen"} ! APOA5 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6704/hyperlipoproteinemia-type-5" xsd:anyURI {source="GARD:0006704"} [Term] @@ -158490,7 +158329,6 @@ is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal relationship: disease_has_feature HP:0011001 {source="Orphanet:2790"} ! Increased bone mineral density relationship: disease_has_feature HP:0100774 ! Hyperostosis relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:2790", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 {source="MONDO:mim2gene_medgen"} ! LRP5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4533" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -158520,7 +158358,6 @@ xref: UMLS:C1840404 {source="MEDGEN:327093", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="OMIM:144755"} ! hereditary disease relationship: disease_has_feature HP:0011001 {source="Orphanet:443098"} ! Increased bone mineral density relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:443098", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20858 {source="OMIM:144755"} ! SLC39A14 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000589 "hyperostosis cranialis interna (disease)" xsd:string @@ -158670,7 +158507,6 @@ xref: Orphanet:280628 {source="OMIM:145250"} xref: Orphanet:79146 {source="OMIM:145250"} xref: UMLS:C1840392 {source="MEDGEN:333550", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0013648 {source="Orphanet:79146/btnt"} ! familial progressive hyperpigmentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6343 {source="MONDO:mim2gene_medgen"} ! KITLG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -158767,6 +158603,7 @@ xref: OMIM:145350 {source="MONDO:equivalentTo"} xref: UMLS:C5542181 {source="MEDGEN:1779589", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="MESH:C564157/inferred"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007777 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11052 {source="OMIM:145350"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6142" xsd:anyURI @@ -158910,7 +158747,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0018493 ! malignant hyperthermia of anesthesia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007783 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018493 {source="DC-OMIM:145600", source="EFO:0009071", source="MESH:C535694", source="MONDO:Redundant", source="OMIM:145600", source="https://orcid.org/0000-0001-5208-3432"} ! malignant hyperthermia of anesthesia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10483 {source="MONDO:mim2gene_medgen"} ! RYR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3363/malignant-hyperthermia-susceptibility-type-1" xsd:anyURI {source="GARD:0003363"} @@ -158936,7 +158772,6 @@ xref: Orphanet:165994 {source="MONDO:equivalentObsolete", source="OMIM:145650"} xref: UMLS:C1840364 {source="MONDO:equivalentTo", source="MEDGEN:333543", source="MONDO:MEDGEN"} is_a: MONDO:0001328 {source="DC-OMIM:145650", source="PMID:8475937", source="https://orcid.org/0000-0002-6601-2165"} ! thyroid hormone resistance syndrome is_a: MONDO:0004425 {source="DOID:0111374", source="Orphanet:165994"} ! hyperthyroidism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11799 {source="MONDO:mim2gene_medgen"} ! THRB [Term] id: MONDO:0007785 @@ -158954,7 +158789,6 @@ xref: OMIM:145680 {source="MONDO:equivalentTo", source="DOID:0080219"} xref: UMLS:C2750824 {source="MEDGEN:442573", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005333 {source="DOID:0080219", source="MESH:C567719"} ! hyperthyroxinemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12405 {source="MONDO:mim2gene_medgen"} ! TTR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -159104,7 +158938,6 @@ is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder intersection_of: MONDO:0018458 ! familial hypocalciuric hypercalcemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1514 ! CASR relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007791 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1514 {source="MONDO:mim2gene_medgen"} ! CASR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -159173,7 +159006,6 @@ is_a: MONDO:0005516 {source="DOID:0080041", source="NCIT:C118697"} ! osteochondr is_a: MONDO:0019685 {source="Orphanet:429", source="PMID:31633310"} ! FGFR3-related chondrodysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007793 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018232 {source="Orphanet:429", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with micromelia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia" xsd:anyURI {source="GARD:0006724"} @@ -159200,6 +159032,7 @@ xref: SCTID:123953004 {source="MONDO:equivalentTo"} xref: UMLS:C0342384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87440"} is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0018555 {source="DOID:0090078", source="MONDO:Redundant", source="OMIM:146110"} ! hypogonadotropic hypogonadism +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4421 {source="OMIM:146110"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -159254,8 +159087,8 @@ xref: SCTID:237657009 {source="MONDO:equivalentTo"} xref: UMLS:C5241444 {source="MEDGEN:1713884", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016390 {source="OMIM:146200", source="Orphanet:2238/btnt", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial hypoparathyroidism intersection_of: MONDO:0016390 ! familial hypoparathyroidism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9606 ! PTH -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9606 ! PTH +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9606 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9606 {source="OMIM:146200"} [Term] id: MONDO:0007797 @@ -159294,7 +159127,7 @@ is_a: MONDO:0000761 {source="DOID:0060878"} ! syndrome caused by partial chromos is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130983"} ! syndromic disease is_a: MONDO:0016892 {source="Orphanet:2237"} ! partial deletion of the short arm of chromosome 10 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007797 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4172 {source="MONDO:mim2gene_medgen"} ! GATA3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4172 {source="OMIM:146255"} [Term] id: MONDO:0007798 @@ -159486,7 +159319,6 @@ is_a: MONDO:0002254 {source="DOID:9248", source="MONDO:Redundant", source="NCIT: is_a: MONDO:0015160 {source="Orphanet:672"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4319 {source="MONDO:mim2gene_medgen"} ! GLI3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome" xsd:anyURI {source="GARD:0007305"} @@ -159519,7 +159351,6 @@ is_a: MONDO:0003037 {source="DC-OMIM:146520", source="DOID:0110699", source="MES is_a: MONDO:0019575 {source="Orphanet:90368/btnt"} ! hypotrichosis simplex of the scalp intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1802 ! CDSN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1802 {source="MONDO:mim2gene_medgen"} ! CDSN [Term] id: MONDO:0007806 @@ -159628,7 +159459,6 @@ intersection_of: MONDO:0024304 ! ichthyosis vulgaris intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:146700"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3748 {source="MONDO:mim2gene_medgen"} ! FLG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4293" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI @@ -159672,6 +159502,7 @@ xref: Orphanet:313 {source="OMIM:146750"} xref: SCTID:254164007 {source="MONDO:equivalentTo"} xref: UMLS:C0432304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98486"} is_a: MONDO:0017778 {source="MESH:C537263"} ! lamellar ichthyosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26321 {source="OMIM:146750"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9735/ichthyosis-lamellar-autosomal-dominant" xsd:anyURI {source="GARD:0009735"} [Term] @@ -159708,7 +159539,7 @@ xref: UMLS:C0432306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017266 {source="Orphanet:455"} ! keratinopathic ichthyosis is_a: MONDO:0017339 ! exfoliative ichthyosis relationship: excluded_subClassOf MONDO:0019269 {source="DOID:0060877", source="MESH:D053560", source="NCIT:C84777", source="Orphanet:455/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! ichthyosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6439 {source="MONDO:mim2gene_medgen"} ! KRT2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6439 {source="OMIM:146800"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2966/ichthyosis-bullosa-of-siemens" xsd:anyURI {source="GARD:0002966"} [Term] @@ -159864,7 +159695,6 @@ xref: SCTID:707609006 {source="MONDO:equivalentTo"} xref: UMLS:C1840235 {source="MEDGEN:326686", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016296 {source="Orphanet:2162/btnt", source="Orphanet:2286/inferred"} ! holoprosencephaly is_a: MONDO:0017219 {source="Orphanet:2286"} ! microform holoprosencephaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10848 {source="MONDO:mim2gene_medgen", source="OMIM:147250"} ! SHH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -160018,6 +159848,7 @@ xref: MESH:C564128 {source="MONDO:equivalentTo"} xref: OMIM:147430 {source="MONDO:equivalentTo"} xref: UMLS:C4538468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1613569"} is_a: MONDO:0003847 {source="MESH:C564128/inferred"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20152 {source="OMIM:147430"} [Term] id: MONDO:0007829 @@ -160037,7 +159868,6 @@ xref: Orphanet:69665 {source="OMIM:147480"} xref: UMLS:C3549845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762759"} is_a: MONDO:0100429 {source="DOID:0070228", source="https://orcid.org/0000-0001-5493-2602"} ! intrahepatic cholestasis of pregnancy relationship: excluded_subClassOf MONDO:0019072 {source="Orphanet:69665/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! intrahepatic cholestasis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3706 {source="MONDO:mim2gene_medgen"} ! ATP8B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3897" xsd:anyURI [Term] @@ -160094,6 +159924,7 @@ xref: SCTID:274944000 {source="MONDO:equivalentTo"} xref: UMLS:C1578917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:293643"} is_a: MONDO:0001933 {source="NCIT:C4375"} ! endocrine pancreas disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23145 {source="OMIM:147630"} [Term] id: MONDO:0007835 @@ -160148,7 +159979,6 @@ xref: UMLS:C1327918 {source="MONDO:equivalentTo", source="MEDGEN:233003", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15924 {source="MONDO:mim2gene_medgen"} ! SALL4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/269/ivic-syndrome" xsd:anyURI {source="GARD:0000269"} @@ -160298,7 +160128,6 @@ xref: SCTID:720752007 {source="MONDO:equivalentTo"} xref: UMLS:C1840061 {source="MEDGEN:333474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0018230 {source="PMID:8898129", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11603 {source="MONDO:mim2gene_medgen"} ! TBX4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -160381,7 +160210,6 @@ is_a: MONDO:0018555 {source="DOID:0090083", source="MONDO:0007844/inferred", sou is_a: MONDO:0018800 ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 ! FGFR1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 {source="MONDO:mim2gene_medgen"} ! FGFR1 [Term] id: MONDO:0007845 @@ -160436,7 +160264,7 @@ is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2332", source="h is_a: MONDO:0015159 {source="Orphanet:2332"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007846 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0001249 ! Intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21316 {source="MONDO:mim2gene_medgen"} ! ANKRD11 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21316 {source="OMIM:148050"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/82/kbg-syndrome" xsd:anyURI {source="GARD:0000082"} @@ -160479,7 +160307,6 @@ is_a: MONDO:0018102 {source="Orphanet:2334"} ! corneal dystrophy intersection_of: MONDO:0003085 ! keratitis intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:148190", source="Orphanet:2334"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8620 {source="MONDO:mim2gene_medgen"} ! PAX6 [Term] id: MONDO:0007849 @@ -160525,7 +160352,6 @@ is_a: MONDO:0000426 {source="DOID:0060871"} ! autosomal dominant disease is_a: MONDO:0018781 {source="OMIM:148210"} ! KID syndrome intersection_of: MONDO:0018781 ! KID syndrome intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 {source="MONDO:mim2gene_medgen"} ! GJB2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -160548,7 +160374,6 @@ xref: UMLS:C1835677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015486 {source="DC-OMIM:148300", source="MESH:C563649", source="MONDO:Redundant", source="OMIM:148300"} ! keratoconus intersection_of: MONDO:0015486 ! keratoconus intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12723 ! VSX1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12723 {source="MONDO:mim2gene_medgen"} ! VSX1 [Term] id: MONDO:0007852 @@ -160580,7 +160405,6 @@ xref: OMIM:148350 {source="Orphanet:2202", source="MONDO:equivalentTo", source=" xref: Orphanet:2202 {source="OMIM:148350", source="MONDO:equivalentTo"} xref: UMLS:C1835672 {source="MEDGEN:332030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 {source="MONDO:mim2gene_medgen"} ! GJB2 [Term] id: MONDO:0007853 @@ -160685,7 +160509,7 @@ xref: UMLS:C1835664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="DOID:0111506", source="https://orcid.org/0000-0002-3458-4839"} ! syndromic disease is_a: MONDO:0017672 {source="MONDO:0020095-obsoleted"} ! focal palmoplantar keratoderma relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007856 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20788 {source="MONDO:mim2gene_medgen"} ! RHBDF2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20788 {source="OMIM:148500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer" xsd:anyURI {source="GARD:0003102"} @@ -160735,8 +160559,8 @@ xref: Orphanet:79501 {source="OMIM:148600"} is_a: MONDO:0017675 {source="DOID:0080214", source="MONDO:indirect"} ! punctate palmoplantar keratoderma is_a: MONDO:0019332 {source="Orphanet:79501/btnt"} ! punctate palmoplantar keratoderma type 1 intersection_of: MONDO:0017675 ! punctate palmoplantar keratoderma -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25662 ! AAGAB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25662 {source="MONDO:mim2gene_medgen"} ! AAGAB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25662 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25662 {source="OMIM:148600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -160766,7 +160590,6 @@ xref: Orphanet:50942 {source="OMIM:148700"} xref: UMLS:C2931122 {source="MONDO:equivalentTo", source="MEDGEN:419717", source="MONDO:MEDGEN"} is_a: MONDO:0019272 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-5493-2602"} ! hereditary palmoplantar keratoderma relationship: excluded_subClassOf MONDO:0018865 {source="DC-OMIM:148700", source="https://orcid.org/0000-0001-5208-3432"} ! striate palmoplantar keratoderma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3048 {source="MONDO:mim2gene_medgen"} ! DSG1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3108" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -160853,7 +160676,6 @@ xref: Orphanet:896 {source="MONDO:equivalentTo", source="DOID:0110949", source=" xref: UMLS:C0079661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:86948"} is_a: MONDO:0018094 {source="DC-OMIM:148820", source="DOID:0110949", source="OMIM:148820", source="Orphanet:896"} ! Waardenburg syndrome relationship: has_characteristic HP:0000006 {source="Orphanet:896"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8617 {source="MONDO:mim2gene_medgen"} ! PAX3 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5523/waardenburg-syndrome-type-3" xsd:anyURI {source="GARD:0005523"} [Term] @@ -160984,7 +160806,6 @@ xref: Orphanet:2698 {source="OMIM:149200", source="MONDO:equivalentTo"} xref: SCTID:1271009 {source="MONDO:equivalentTo"} xref: UMLS:C0266004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82727"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 {source="MONDO:mim2gene_medgen"} ! GJB2 [Term] id: MONDO:0007867 @@ -161040,6 +160861,7 @@ xref: OMIM:149400 {source="DOID:0060696", source="MONDO:equivalentTo"} xref: Orphanet:3197 {source="OMIM:149400", source="DOID:0060696"} xref: UMLS:C4551954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1647581"} is_a: MONDO:0021022 {source="DOID:0060696", source="OMIM:149400"} ! hereditary hyperekplexia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4326 {source="OMIM:149400"} [Term] id: MONDO:0007869 @@ -161088,7 +160910,7 @@ xref: Orphanet:451612 {source="MONDO:equivalentTo"} xref: UMLS:C1835612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332018"} is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5950 {source="MONDO:mim2gene_medgen"} ! IGSF3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5950 {source="OMIM:149700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -161231,7 +161053,6 @@ is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect du relationship: disease_has_feature HP:0001373 ! Joint dislocation relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:503", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:150250", source="Orphanet:503"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3755 {source="MONDO:mim2gene_medgen"} ! FLNB property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome" xsd:anyURI {source="GARD:0006860"} [Term] @@ -161400,7 +161221,6 @@ is_a: MONDO:0005486 {source="DC-OMIM:150400", source="MONDO:Redundant", source=" is_a: MONDO:0100358 {source="https://www.clinicalgenome.org/affiliation/40060/"} ! ectodermal dysplasia WNT10A related intersection_of: MONDO:0005486 ! tooth agenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13829 ! WNT10A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13829 {source="MONDO:mim2gene_medgen"} ! WNT10A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3293" xsd:anyURI [Term] @@ -161430,6 +161250,7 @@ xref: Orphanet:652522 {source="MONDO:equivalentTo"} xref: SCTID:71436005 {source="MONDO:equivalentTo"} xref: UMLS:C0272174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78795"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12754 {source="OMIM:150550"} [Term] id: MONDO:0007884 @@ -161580,7 +161401,6 @@ is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C3434"} ! benign neo intersection_of: MONDO:0001572 ! leiomyoma intersection_of: disease_has_location UBERON:0009853 ! body of uterus relationship: disease_has_location UBERON:0000995 {source="EFO:0000784"} ! uterus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5009 {source="MONDO:mim2gene_medgen"} ! HMGA2 [Term] id: MONDO:0007887 @@ -161734,7 +161554,7 @@ is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153", source="htt relationship: disease_has_feature HP:0011001 {source="Orphanet:2658"} ! Increased bone mineral density relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2658", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:2658", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9587 {source="MONDO:mim2gene_medgen"} ! PTDSS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9587 {source="OMIM:151050"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -161858,7 +161678,6 @@ xref: UMLS:C1835437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019694 {source="Orphanet:85166"} ! spondylodysplastic dysplasia is_a: MONDO:0022800 {source="Orphanet:85166", source="PMID:31633310"} ! type 2 collagenopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007895 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -161995,10 +161814,10 @@ xref: SCTID:74102009 {source="MONDO:equivalentTo"} xref: UMLS:C0544855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107463"} is_a: MONDO:0019284 {source="DC-OMIM:151600", source="DOID:0080081", source="MONDO:Redundant", source="OMIM:151600"} ! inherited isolated nail anomaly intersection_of: MONDO:0019284 ! inherited isolated nail anomaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9060 ! PLCD1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9060 relationship: excluded_subClassOf MONDO:0016471 {source="MESH:C537289", source="https://orcid.org/0000-0001-5208-3432"} ! pachyonychia congenita relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9060 {source="MONDO:mim2gene_medgen"} ! PLCD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9060 {source="OMIM:151600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2555/gorlin-bushkell-jensen-syndrome" xsd:anyURI {source="GARD:0002555"} @@ -162106,7 +161925,6 @@ is_a: MONDO:0003847 {source="DOID:0070202"} ! hereditary disease is_a: MONDO:0020088 {source="DC-OMIM:151660", source="DOID:0070202", source="OMIM:151660", source="Orphanet:2348"} ! familial partial lipodystrophy is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2348", source="Orphanet:2348/inferred"} ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:2348", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI [Term] @@ -162295,6 +162113,7 @@ is_a: MONDO:0000001 {source="Orphanet:536"} ! disease is_a: MONDO:0004670 {source="DOID:9074", source="NCIT:C3201"} ! lupus erythematosus relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:536", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease relationship: excluded_subClassOf MONDO:0019737 {source="Orphanet:536", source="https://orcid.org/0000-0001-5208-3432"} ! thrombotic microangiopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2956 {source="OMIM:152700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI property_value: IAO:0000589 "systemic lupus erythematosus (disease)" xsd:string @@ -162396,7 +162215,7 @@ is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.co is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007918 {source="MONDO:CLINGEN"} relationship: disease_has_feature MONDO:0019118 ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6388 {source="MONDO:mim2gene_medgen"} ! KIF11 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6388 {source="OMIM:152950"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -162438,7 +162257,6 @@ is_a: MONDO:0019313 {source="DOID:0070210", source="DOID:0070212", source="MONDO intersection_of: MONDO:0019313 ! lymphatic malformation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3767 ! FLT4 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007919 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3767 {source="MONDO:mim2gene_medgen"} ! FLT4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2768" xsd:anyURI [Term] @@ -162543,7 +162361,6 @@ is_a: MONDO:0002254 {source="DOID:0111509", source="MONDO:Redundant", source="NC is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema relationship: disease_has_feature HP:0009743 {source="Orphanet:33001"} ! Distichiasis relationship: excluded_subClassOf MONDO:0020190 {source="Orphanet:33001", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow/eyelashes distichiasis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3801 {source="MONDO:mim2gene_medgen"} ! FOXC2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/333/lymphedema-distichiasis-syndrome" xsd:anyURI {source="GARD:0000333"} @@ -162612,7 +162429,6 @@ is_a: MONDO:0017623 {source="Orphanet:109"} ! PTEN hamartoma tumor syndrome is_a: MONDO:0019716 {source="Orphanet:109"} ! overgrowth syndrome relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:109", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:153480", source="Orphanet:109"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 {source="MONDO:mim2gene_medgen"} ! PTEN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI @@ -162662,7 +162478,7 @@ is_a: MONDO:0016904 ! partial deletion of the long arm of chromosome 5 is_a: MONDO:0018881 {source="NCIT:C6867", source="Orphanet:86841"} ! myelodysplastic syndrome relationship: disease_arises_from_structure CHR:9606-chr5q {source="https://orcid.org/0000-0002-4142-7153"} ! 5q (Human) relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10387 {source="MONDO:mim2gene_medgen"} ! RPS14 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10387 {source="OMIM:153550"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5268" xsd:anyURI @@ -162732,7 +162548,6 @@ xref: OMIM:153670 {source="MONDO:equivalentTo", source="DOID:0111059"} xref: Orphanet:274 {source="OMIM:153670"} xref: UMLS:C3277076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:478706"} is_a: MONDO:0009276 {source="DOID:0111059", source="OMIM:153670"} ! Bernard-Soulier syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4439 {source="MONDO:mim2gene_medgen"} ! GP1BA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -162778,7 +162593,6 @@ is_a: MONDO:0700238 {source="https://clinicalgenome.org/working-groups/clinical- intersection_of: MONDO:0000390 ! vitelliform macular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 ! BEST1 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="MONDO:mim2gene_medgen"} ! BEST1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy" xsd:anyURI {source="GARD:0010301"} @@ -162802,7 +162616,6 @@ xref: OMIM:153800 {source="MONDO:equivalentTo", source="DOID:0110015"} xref: UMLS:C3495438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501183"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:153800", source="DOID:0110015", source="OMIM:153800"} ! age-related macular degeneration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34 {source="MONDO:mim2gene_medgen"} ! ABCA4 [Term] id: MONDO:0007933 @@ -162930,9 +162743,9 @@ xref: UMLS:C1835171 {source="MEDGEN:320542", source="MONDO:equivalentTo", source is_a: MONDO:0017625 {source="Orphanet:34528"} ! familial primary hypomagnesemia with hypocalcuria is_a: MONDO:0018100 {source="DOID:0060885", source="MONDO:Redundant", source="OMIM:154020", source="Orphanet:34528/inferred"} ! familial primary hypomagnesemia intersection_of: MONDO:0018100 ! familial primary hypomagnesemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4026 ! FXYD2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4026 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007937 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4026 {source="MONDO:mim2gene_medgen"} ! FXYD2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4026 {source="OMIM:154020"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3350/renal-hypomagnesemia-2" xsd:anyURI {source="GARD:0003350"} [Term] @@ -163067,7 +162880,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="htt is_a: MONDO:0015161 {source="Orphanet:245"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018237 {source="DC-OMIM:154400", source="DOID:5768", source="Orphanet:245"} ! acrofacial dysostosis relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10771 {source="MONDO:mim2gene_medgen"} ! SF3B4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10771 {source="OMIM:154400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -163093,9 +162906,9 @@ xref: DOID:0080789 {source="MONDO:equivalentTo"} xref: OMIM:154500 {source="Orphanet:861/e", source="MONDO:equivalentTo", source="Orphanet:861"} is_a: MONDO:0002457 {source="DC-OMIM:154500", source="DOID:0080789", source="MONDO:Redundant", source="OMIM:154500"} ! Treacher-Collins syndrome intersection_of: MONDO:0002457 ! Treacher-Collins syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11654 ! TCOF1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11654 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:154500"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11654 {source="MONDO:mim2gene_medgen"} ! TCOF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11654 {source="OMIM:154500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -163208,7 +163021,6 @@ relationship: excluded_subClassOf MONDO:0020208 {source="Orphanet:284963/inferre relationship: excluded_subClassOf MONDO:0020211 {source="Orphanet:284963/inferred", source="Orphanet:558", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic keratoconus relationship: excluded_subClassOf MONDO:0020236 {source="Orphanet:558", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lens position anomaly relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:154700", source="Orphanet:284963", source="Orphanet:558"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3155" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -163259,7 +163071,6 @@ is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0015161 {source="Orphanet:560"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0016761 {source="Orphanet:560"} ! spondyloepiphyseal dysplasia is_a: MONDO:0019287 {source="DOID:0111510", source="Orphanet:560"} ! ectodermal dysplasia syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 {source="MONDO:mim2gene_medgen"} ! COL11A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -163299,7 +163110,6 @@ xref: SCTID:78745000 {source="DOID:350"} xref: UMLS:C0024899 {source="MEDGEN:9902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002724 {source="NCIT:C84269"} ! mast cell neoplasm is_a: MONDO:0004805 {source="DOID:350"} ! leukocyte disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6342 {source="MONDO:mim2gene_medgen"} ! KIT [Term] id: MONDO:0007951 @@ -163532,6 +163342,7 @@ intersection_of: MONDO:0005564 ! embryonal neoplasm intersection_of: disease_has_location UBERON:0002037 ! cerebellum relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007959 {source="MONDO:CLINGEN"} relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23694 {source="OMIM:155255"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma" xsd:anyURI {source="GARD:0007005"} @@ -163609,7 +163420,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma relationship: excluded_subClassOf MONDO:0018453 {source="Orphanet:404560/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial atypical multiple mole melanoma syndrome relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:155600", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 {source="MONDO:mim2gene_medgen"} ! PTEN relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -163647,7 +163457,6 @@ relationship: excluded_subClassOf MONDO:0000426 {source="DOID:10041", source="OM relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial melanoma relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:155601", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:155601"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1787 {source="MONDO:mim2gene_medgen"} ! CDKN2A relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -163702,7 +163511,6 @@ is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous s is_a: MONDO:0015356 {source="Orphanet:252206"} ! hereditary neoplastic syndrome relationship: disease_has_feature MONDO:0005105 {source="MESH:C536149"} ! melanoma relationship: disease_has_feature MONDO:0005872 {source="MESH:C536149"} ! nervous system cancer -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1787 {source="MONDO:mim2gene_medgen"} ! CDKN2A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI [Term] @@ -163787,7 +163595,6 @@ xref: SCTID:44697002 {source="MONDO:equivalentTo", source="DOID:4253"} xref: UMLS:C3149631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:460981"} is_a: MONDO:0017198 {source="Orphanet:2485"} ! osteopetrosis relationship: disease_has_feature HP:0011001 ! Increased bone mineral density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28887 {source="MONDO:mim2gene_medgen"} ! LEMD3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9474/melorheostosis" xsd:anyURI {source="GARD:0009474"} @@ -163887,9 +163694,9 @@ xref: Orphanet:228402 {source="MONDO:relatedTo", source="OMIM:156200"} xref: UMLS:C1969562 {source="MEDGEN:409857", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:156200"} ! intellectual disability, autosomal dominant intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20444 ! MBD5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20444 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20444 {source="MONDO:mim2gene_medgen"} ! MBD5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20444 {source="OMIM:156200"} [Term] id: MONDO:0007975 @@ -163988,7 +163795,6 @@ is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculosk is_a: MONDO:0003847 {source="OMIM:156250"} ! hereditary disease is_a: MONDO:0005381 {source="https://orcid.org/0000-0002-4142-7153"} ! bone disorder relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:2499", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9644 {source="MONDO:mim2gene_medgen"} ! PTPN11 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3560/metachondromatosis" xsd:anyURI {source="GARD:0003560"} @@ -164055,7 +163861,6 @@ is_a: MONDO:0018230 {source="PMID:31977144", source="https://orcid.org/0009-0001 relationship: disease_has_feature HP:0008873 ! Disproportionate short-limb short stature relationship: disease_has_feature HP:0100255 ! Metaphyseal dysplasia relationship: excluded_subClassOf MONDO:0009943 {source="DOID:0080020", source="https://orcid.org/0000-0001-5208-3432"} ! Pyle disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9608 {source="MONDO:mim2gene_medgen"} ! PTH1R property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -164094,7 +163899,7 @@ is_a: MONDO:0018230 {source="PMID:31633898", source="https://orcid.org/0009-0001 relationship: disease_has_feature HP:0003510 ! Severe short stature relationship: disease_has_feature HP:0100255 ! Metaphyseal dysplasia relationship: excluded_subClassOf MONDO:0000138 {source="DC-OMIM:156500", source="https://orcid.org/0000-0001-5208-3432"} ! metaphyseal chondrodysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2185 {source="MONDO:mim2gene_medgen"} ! COL10A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2185 {source="OMIM:156500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -164123,7 +163928,6 @@ xref: UMLS:C3549874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0018230 {source="PMID:29891876", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10472 {source="MONDO:mim2gene_medgen"} ! RUNX2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -164166,7 +163970,6 @@ xref: SCTID:22764001 {source="MONDO:equivalentTo"} xref: UMLS:C0265281 {source="MEDGEN:82699", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016761 {source="Orphanet:2635"} ! spondyloepiphyseal dysplasia is_a: MONDO:0018240 {source="Orphanet:2635", source="PMID:31633310"} ! TRPV4-related bone disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3571/metatropic-dysplasia" xsd:anyURI {source="GARD:0003571"} @@ -164205,7 +164008,6 @@ relationship: disease_has_feature HP:0000272 ! Malar flattening relationship: disease_has_feature HP:0003510 ! Severe short stature relationship: disease_has_feature HP:0003521 ! Disproportionate short-trunk short stature relationship: disease_has_feature MONDO:0004603 ! collagenopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen", source="OMIM:156550"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia" xsd:anyURI {source="GARD:0006841"} @@ -164476,7 +164278,6 @@ xref: UMLS:C1834877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016296 {source="DOID:0110872", source="MESH:C563579", source="MONDO:Redundant", source="NCIT:C74995", source="OMIM:157170", source="Orphanet:2162/btnt"} ! holoprosencephaly intersection_of: MONDO:0016296 ! holoprosencephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10889 ! SIX3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10889 {source="MONDO:mim2gene_medgen"} ! SIX3 [Term] id: MONDO:0008000 @@ -164537,7 +164338,6 @@ intersection_of: MONDO:0016558 ! familial congenital mirror movements intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2701 ! DCC relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0016558 {source="DC-OMIM:157600", source="MONDO:Redundant", source="OMIM:157600", source="Orphanet:238722/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial congenital mirror movements -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2701 {source="MONDO:mim2gene_medgen"} ! DCC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5219" xsd:anyURI [Term] @@ -164621,7 +164421,6 @@ xref: SCTID:720612000 {source="MONDO:equivalentTo"} xref: UMLS:C2931461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444060"} is_a: MONDO:0003847 {source="Orphanet:3238/inferred"} ! hereditary disease is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6859 {source="MONDO:mim2gene_medgen"} ! MAP3K7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -164915,7 +164714,6 @@ xref: Orphanet:3377 {source="MONDO:equivalentTo", source="OMIM:158300"} xref: SCTID:8757006 {source="MONDO:equivalentTo"} xref: UMLS:C0265226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78540"} is_a: MONDO:0019942 {source="DC-OMIM:158300", source="DOID:0111603", source="OMIM:158300", source="Orphanet:3377"} ! distal arthrogryposis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7578 {source="MONDO:mim2gene_medgen"} ! MYH8 [Term] id: MONDO:0008017 @@ -165006,7 +164804,6 @@ xref: Orphanet:247768 {source="OMIM:158330", source="MONDO:equivalentTo"} xref: Orphanet:3109 {source="OMIM:158330", source="MONDO:directSiblingOf"} xref: UMLS:C2675014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390686"} is_a: MONDO:0015830 {source="Orphanet:247768", source="Orphanet:247768/inferred"} ! partial bilateral aplasia of the mullerian ducts -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12783 {source="MONDO:mim2gene_medgen"} ! WNT4 [Term] id: MONDO:0008020 @@ -165048,7 +164845,6 @@ is_a: MONDO:0016063 {source="DC-OMIM:158350", source="MONDO:Redundant", source=" intersection_of: MONDO:0016063 ! Cowden disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 ! PTEN relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:158350"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 {source="MONDO:mim2gene_medgen"} ! PTEN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -165119,7 +164915,6 @@ is_a: MONDO:0024237 {source="MESH:C563562/inferred"} ! inherited neurodegenerati intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14025 ! SLC5A7 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008024 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14025 {source="MONDO:mim2gene_medgen"} ! SLC5A7 [Term] id: MONDO:0008025 @@ -165148,7 +164943,6 @@ is_a: MONDO:0018894 {source="DC-OMIM:158590", source="MONDO:Redundant"} ! distal is_a: MONDO:0024237 {source="MESH:C563561/inferred"} ! inherited neurodegenerative disorder intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30171 ! HSPB8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30171 {source="MONDO:mim2gene_medgen"} ! HSPB8 [Term] id: MONDO:0008026 @@ -165178,7 +164972,6 @@ xref: UMLS:C5780022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0001516 {source="DC-OMIM:158600", source="MESH:C563560/inferred"} ! spinal muscular atrophy is_a: MONDO:0018190 {source="DOID:0070351", source="OMIM:158600", source="Orphanet:209341"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy is_a: MONDO:0024237 {source="MESH:C563560/inferred"} ! inherited neurodegenerative disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 {source="MONDO:mim2gene_medgen"} ! DYNC1H1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -165276,7 +165069,6 @@ xref: UMLS:C5399970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0001347 {source="DC-OMIM:158900", source="DOID:0111192", source="MESH:C536391", source="MONDO:Redundant", source="OMIM:158900", source="Orphanet:269/btnt"} ! facioscapulohumeral muscular dystrophy intersection_of: MONDO:0001347 ! facioscapulohumeral muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3954 ! FRG1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3954 {source="MONDO:mim2gene_medgen"} ! FRG1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9941/facioscapulohumeral-muscular-dystrophy" xsd:anyURI {source="GARD:0009941"} [Term] @@ -165307,7 +165099,6 @@ xref: UMLS:C1834671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0001347 {source="DC-OMIM:158901", source="DOID:0111193", source="MESH:C563557", source="MONDO:Redundant", source="OMIM:158901", source="Orphanet:269/btnt"} ! facioscapulohumeral muscular dystrophy intersection_of: MONDO:0001347 ! facioscapulohumeral muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29090 ! SMCHD1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29090 {source="MONDO:mim2gene_medgen"} ! SMCHD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -165399,7 +165190,6 @@ xref: SCTID:768556005 {source="MONDO:equivalentTo"} xref: UMLS:C1327919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:230896"} is_a: MONDO:0100310 {source="https://orcid.org/0000-0002-0736-9199"} ! hereditary cerebellar ataxia relationship: excluded_subClassOf MONDO:0015141 {source="Orphanet:2585", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of medulla oblongata -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1349 {source="MONDO:mim2gene_medgen"} ! SAMD9L property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5654" xsd:anyURI [Term] @@ -165563,7 +165353,8 @@ xref: UMLS:C1834570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000903 {source="DOID:0090034"} ! myoclonus-dystonia syndrome is_a: MONDO:0044807 {source="DOID:0090034/inferred", source="MONDO:Redundant", source="OMIM:159900"} ! inherited dystonia intersection_of: MONDO:0000903 ! myoclonus-dystonia syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10808 ! SGCE +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10808 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10808 {source="OMIM:159900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -165600,7 +165391,6 @@ is_a: MONDO:0020128 {source="Orphanet:2590", source="Orphanet:2590/inferred"} ! is_a: MONDO:0024257 {source="Orphanet:2590"} ! hereditary motor neuron disease is_a: MONDO:0100524 {source="https://clinicalgenome.org/affiliation/40110/"} ! ASAH1-related sphingolipidosis relationship: excluded_subClassOf MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! variable age onset epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/735 {source="MONDO:mim2gene_medgen"} ! ASAH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5881" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI @@ -165671,9 +165461,9 @@ xref: UMLS:C1719788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016227 {source="DOID:0050989", source="MONDO:Redundant", source="OMIM:160120", source="Orphanet:37612"} ! hereditary episodic ataxia is_a: MONDO:0020127 ! hereditary peripheral neuropathy intersection_of: MONDO:0016227 ! hereditary episodic ataxia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6218 ! KCNA1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6218 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008047 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6218 {source="MONDO:mim2gene_medgen"} ! KCNA1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6218 {source="OMIM:160120"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -165721,6 +165511,7 @@ intersection_of: MONDO:0018947 ! centronuclear myopathy intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008048 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:160150", source="OMIM:614408", source="Orphanet:169189"} ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26190 {source="OMIM:160150"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5906" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6239" xsd:anyURI @@ -165773,7 +165564,6 @@ is_a: MONDO:0016195 {source="Orphanet:59135"} ! qualitative or quantitative defe is_a: MONDO:0018949 {source="DC-OMIM:160500", source="DOID:0070197", source="MONDO:Redundant", source="OMIM:160500", source="Orphanet:59135"} ! distal myopathy is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008050 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="MONDO:mim2gene_medgen"} ! MYH7 [Term] id: MONDO:0008051 @@ -165890,7 +165680,6 @@ xref: SCTID:57938005 {source="MONDO:equivalentTo"} xref: SCTID:8960007 {source="MONDO:relatedTo"} xref: UMLS:C2936781 {source="MEDGEN:422446", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009710 {source="DC-OMIM:160800", source="DOID:0081336", source="OMIM:160800"} ! Thomsen and Becker disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2019 {source="MONDO:mim2gene_medgen"} ! CLCN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -165944,9 +165733,9 @@ is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder is_a: MONDO:0005267 ! heart disorder is_a: MONDO:0016107 {source="DC-OMIM:160900", source="DOID:11722", source="MONDO:Redundant", source="NCIT:C84679", source="OMIM:160900", source="Orphanet:273"} ! myotonic dystrophy intersection_of: MONDO:0016107 ! myotonic dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2933 ! DMPK +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2933 relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2933 {source="MONDO:mim2gene_medgen"} ! DMPK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2933 {source="OMIM:160900"} [Term] id: MONDO:0008057 @@ -165975,7 +165764,6 @@ intersection_of: MONDO:0015285 ! Carney complex intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9388 ! PRKAR1A relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008057 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:160980"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9388 {source="MONDO:mim2gene_medgen"} ! PRKAR1A [Term] id: MONDO:0008058 @@ -166030,7 +165818,6 @@ xref: UMLS:C0343111 {source="MEDGEN:91010", source="MONDO:equivalentTo", source= is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="DOID:0111528", source="MESH:C538331", source="Orphanet:69087"} ! ectodermal dysplasia syndrome is_a: MONDO:0019289 {source="Orphanet:69087"} ! hyperpigmentation of the skin -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6416 {source="MONDO:mim2gene_medgen"} ! KRT14 [Term] id: MONDO:0008060 @@ -166080,8 +165867,9 @@ xref: SCTID:238719003 {source="MONDO:equivalentTo"} xref: UMLS:C0406443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96056"} is_a: MONDO:0019284 {source="DC-OMIM:161050", source="DOID:0080079", source="MONDO:Redundant", source="OMIM:161050", source="Orphanet:79153"} ! inherited isolated nail anomaly intersection_of: MONDO:0019284 ! inherited isolated nail anomaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4044 ! FZD6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4044 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4044 {source="OMIM:161050"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -166135,7 +165923,6 @@ is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosi relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008061 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0015163 {source="Orphanet:2614", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary glomerular disease relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:161200", source="Orphanet:2614"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6654 {source="MONDO:mim2gene_medgen"} ! LMX1B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome" xsd:anyURI {source="GARD:0007160"} @@ -166164,8 +165951,8 @@ xref: UMLS:C1834372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016158 {source="Orphanet:2073/btnt"} ! narcolepsy-cataplexy syndrome is_a: MONDO:0100554 {source="MONDO:Redundant", source="OMIM:161400"} ! hereditary narcolepsy intersection_of: MONDO:0021107 ! narcolepsy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4847 ! HCRT -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4847 {source="MONDO:mim2gene_medgen"} ! HCRT +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4847 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4847 {source="OMIM:161400"} [Term] id: MONDO:0008063 @@ -166292,7 +166079,6 @@ is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/ intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/129 ! ACTA1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/129 {source="MONDO:mim2gene_medgen"} ! ACTA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6036" xsd:anyURI @@ -166407,9 +166193,9 @@ is_a: MONDO:0008264 {source="Orphanet:88950"} ! autosomal dominant medullary cys is_a: MONDO:0019236 {source="Orphanet:209886"} ! inborn disorder of purine metabolism is_a: MONDO:0019741 {source="Orphanet:209886"} ! familial cystic renal disease intersection_of: MONDO:0000608 ! familial juvenile hyperuricemic nephropathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12559 ! UMOD +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12559 relationship: excluded_subClassOf MONDO:0008264 {source="Orphanet:34149/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12559 {source="GARD:0010679", source="MONDO:mim2gene_medgen"} ! UMOD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12559 {source="OMIM:162000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1880" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4444" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -166495,7 +166281,7 @@ xref: SCTID:3548001 {source="DOID:10383"} xref: UMLS:C1834304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320318"} is_a: MONDO:0006683 {source="DOID:10383"} ! brachial plexus neuropathy relationship: excluded_subClassOf MONDO:0017362 {source="Orphanet:2901/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! neuralgic amyotrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7323 {source="MONDO:mim2gene_medgen"} ! SEPTIN9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7323 {source="OMIM:162100"} [Term] id: MONDO:0008077 @@ -166519,7 +166305,6 @@ xref: Orphanet:636 {source="OMIM:162210"} xref: UMLS:C1834235 {source="MEDGEN:320296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018975 {source="DC-OMIM:162210", source="DOID:0070482"} ! neurofibromatosis type 1 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:162210"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7765 {source="MONDO:mim2gene_medgen"} ! NF1 [Term] id: MONDO:0008079 @@ -166634,7 +166419,6 @@ intersection_of: MONDO:0006295 ! malignant urinary system neoplasm intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9967 ! RET relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008082 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:162300", source="Orphanet:247709"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9967 {source="MONDO:mim2gene_medgen"} ! RET property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b" xsd:anyURI {source="GARD:0010225"} @@ -166677,6 +166461,7 @@ xref: Orphanet:79262 {source="OMIM:162350"} xref: UMLS:C1834207 {source="MEDGEN:320287", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016295 {source="DOID:0110720", source="MONDO:Redundant", source="NCIT:C128116", source="OMIM:162350", source="Orphanet:228343/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0019260 {source="Orphanet:228343"} ! adult neuronal ceroid lipofuscinosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16235 {source="OMIM:162350"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -166729,7 +166514,6 @@ is_a: MONDO:0018213 {source="DOID:0070152", source="MONDO:Redundant", source="Or intersection_of: MONDO:0018213 ! hereditary sensory and autonomic neuropathy type 1 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11277 ! SPTLC1 relationship: disease_has_basis_in_disruption_of GO:0004758 {source="PMID:21502308"} ! serine C-palmitoyltransferase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11277 {source="MONDO:mim2gene_medgen"} ! SPTLC1 [Term] id: MONDO:0008087 @@ -166771,7 +166555,6 @@ xref: UMLS:C0393814 {source="MEDGEN:98291", source="MONDO:equivalentTo", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0020127 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary peripheral neuropathy is_a: MONDO:0022754 {source="Orphanet:640"} ! chromosome 17p deletion -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9118 {source="MONDO:mim2gene_medgen"} ! PMP22 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -166843,7 +166626,6 @@ xref: SCTID:69295006 {source="DOID:5339"} xref: UMLS:C0221023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65121"} is_a: MONDO:0001475 {source="DOID:5339", source="MESH:C536227"} ! neutropenia is_a: MONDO:0015134 {source="Orphanet:2686"} ! constitutional neutropenia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3309 {source="MONDO:mim2gene_medgen"} ! ELANE property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -166882,7 +166664,6 @@ xref: SCTID:129639005 {source="MONDO:equivalentTo"} xref: UMLS:C0543669 {source="MEDGEN:154252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004805 {source="DOID:0090120", source="MESH:C563010"} ! leukocyte disorder is_a: MONDO:0005046 {source="MONDO:Entailed", source="Orphanet:279943"} ! immune system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2439 {source="MONDO:mim2gene_medgen"} ! CSF3R [Term] id: MONDO:0008093 @@ -166958,7 +166739,6 @@ is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:624"} ! disease is_a: MONDO:0016231 {source="MONDO:Redundant", source="Orphanet:624"} ! capillary malformation is_a: MONDO:0019293 {source="Orphanet:624"} ! skin vascular disease is_a: MONDO:0021658 {source="NCIT:C3840"} ! vascular ectasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4390 {source="MONDO:mim2gene_medgen"} ! GNAQ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -167100,7 +166880,6 @@ is_a: MONDO:0016293 {source="DC-OMIM:163500", source="DOID:0110863", source="MON intersection_of: MONDO:0016293 ! congenital stationary night blindness intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8786 ! PDE6B relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8786 {source="MONDO:mim2gene_medgen"} ! PDE6B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -167162,7 +166941,6 @@ xref: UMLS:C1834144 {source="MEDGEN:320273", source="MONDO:equivalentTo", source is_a: MONDO:0012061 {source="MESH:C563513", source="MONDO:Redundant", source="OMIM:163800", source="Orphanet:166282/btnt"} ! familial sick sinus syndrome intersection_of: MONDO:0012061 ! familial sick sinus syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16882 ! HCN4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16882 {source="MONDO:mim2gene_medgen"} ! HCN4 [Term] id: MONDO:0008103 @@ -167197,7 +166975,6 @@ xref: OMIM:163950 {source="DOID:0060578", source="MONDO:equivalentTo"} xref: Orphanet:648 {source="OMIM:163950"} xref: UMLS:C4551602 {source="MEDGEN:1638960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018997 {source="DC-OMIM:163950", source="DOID:0060578", source="NCIT:C75459", source="OMIM:163950"} ! Noonan syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9644 {source="MONDO:mim2gene_medgen"} ! PTPN11 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2554" xsd:anyURI [Term] @@ -167362,7 +167139,6 @@ is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal is_a: MONDO:0019287 {source="Orphanet:2710"} ! ectodermal dysplasia syndrome relationship: disease_has_feature HP:0011001 {source="Orphanet:2710"} ! Increased bone mineral density relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:2710", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 {source="MONDO:mim2gene_medgen"} ! GJA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7239/oculodentodigital-dysplasia" xsd:anyURI {source="GARD:0007239"} @@ -167484,7 +167260,6 @@ is_a: MONDO:0015267 {source="DC-OMIM:164280", source="MONDO:Redundant", source=" intersection_of: MONDO:0015267 ! Feingold syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7559 ! MYCN relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:164280", source="Orphanet:391641"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7559 {source="MONDO:mim2gene_medgen"} ! MYCN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -167591,8 +167366,8 @@ is_a: MONDO:0005559 {source="DOID:0050954/inferred", source="MONDO:Redundant", s is_a: MONDO:0015548 {source="Orphanet:98755"} ! Huntington disease-like syndrome is_a: MONDO:0019792 {source="MONDO:Redundant", source="Orphanet:98755"} ! autosomal dominant cerebellar ataxia type I intersection_of: MONDO:0019792 ! autosomal dominant cerebellar ataxia type I -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10548 ! ATXN1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10548 {source="MONDO:mim2gene_medgen"} ! ATXN1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10548 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10548 {source="OMIM:164400"} [Term] id: MONDO:0008120 @@ -167648,6 +167423,7 @@ is_a: MONDO:0000426 {source="DOID:0080845"} ! autosomal dominant disease is_a: MONDO:0017136 {source="DC-OMIM:164745", source="DOID:0080845", source="MONDO:Redundant", source="OMIM:164745", source="Orphanet:93328"} ! omodysplasia intersection_of: MONDO:0017136 ! omodysplasia intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4040 {source="OMIM:164745"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -167834,7 +167610,6 @@ is_a: MONDO:0043878 {source="MESH:C537128/inferred", source="MONDO:Redundant", s intersection_of: MONDO:0020250 ! autosomal dominant optic atrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8142 ! OPA3 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:165300", source="Orphanet:67036"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8142 {source="MONDO:mim2gene_medgen"} ! OPA3 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10203/autosomal-dominant-optic-atrophy-and-cataract" xsd:anyURI {source="GARD:0010203"} [Term] @@ -167868,7 +167643,6 @@ is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020250 {source="MONDO:Redundant", source="Orphanet:98673"} ! autosomal dominant optic atrophy is_a: MONDO:0043878 {source="MONDO:Redundant", source="OMIM:165500"} ! hereditary optic atrophy relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:165500", source="Orphanet:98673"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8140 {source="MONDO:mim2gene_medgen"} ! OPA1 [Term] id: MONDO:0008135 @@ -167886,6 +167660,7 @@ xref: UMLS:C5435585 {source="MONDO:equivalentTo", source="MEDGEN:1768962", sourc is_a: MONDO:0003847 {source="MESH:C563494/inferred"} ! hereditary disease is_a: MONDO:0043878 {source="OMIM:165510"} ! hereditary optic atrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008135 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11317 {source="OMIM:165510"} [Term] id: MONDO:0008136 @@ -167916,7 +167691,6 @@ xref: SCTID:724999003 {source="MONDO:equivalentTo"} xref: UMLS:C1833797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322281"} is_a: MONDO:0020249 {source="Orphanet:137902"} ! hereditary optic neuropathy is_a: MONDO:0800183 {source="https://clinicalgenome.org/affiliation/40077/", source="https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! PAX6-related ocular dysgenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8620 {source="MONDO:mim2gene_medgen"} ! PAX6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -168084,9 +167858,9 @@ xref: OMIM:165720 {source="MONDO:equivalentTo"} xref: SCTID:396275006 {source="MONDO:relatedTo"} xref: UMLS:C3887876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854604"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3959 ! FRZB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3959 intersection_of: predisposes_towards MONDO:0005178 ! osteoarthritis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3959 {source="MONDO:mim2gene_medgen"} ! FRZB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3959 {source="OMIM:165720"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1395" xsd:anyURI [Term] @@ -168185,7 +167959,6 @@ xref: UMLS:C0023931 {source="MEDGEN:9799", source="MONDO:equivalentTo", source=" is_a: MONDO:0019019 {source="DC-OMIM:166200", source="DOID:0110334", source="NCIT:C99003", source="OMIM:166200", source="Orphanet:216796"} ! osteogenesis imperfecta is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008146 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2197 {source="MONDO:mim2gene_medgen"} ! COL1A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -168311,7 +168084,6 @@ is_a: MONDO:0002081 {source="GARD:0004142"} ! musculoskeletal system disorder is_a: MONDO:0003847 {source="GARD:0004142"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008150 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:2645", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 {source="MONDO:mim2gene_medgen"} ! FGFR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -168346,7 +168118,6 @@ is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a red relationship: disease_has_feature HP:0004349 {source="Orphanet:53697"} ! Reduced bone mineral density relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:53697", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:53697", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27337 {source="MONDO:mim2gene_medgen"} ! ANO5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -168377,7 +168148,6 @@ xref: Orphanet:2774 {source="MONDO:equivalentTo", source="OMIM:166300", source=" xref: SCTID:766992008 {source="MONDO:equivalentTo"} xref: UMLS:C2674705 {source="MEDGEN:436237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019707 {source="Orphanet:2774", source="PMID:31633310"} ! primary osteolysis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6408 {source="MONDO:mim2gene_medgen"} ! MAFB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3818/multicentric-osteolysis-nephropathy" xsd:anyURI {source="GARD:0003818"} @@ -168414,7 +168184,6 @@ is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder is_a: MONDO:0021154 {source="Orphanet:2762"} ! dermis disorder is_a: MONDO:0800466 {source="https://clinicalgenome.org/affiliation/40060/"} ! disorder of GNAS inactivation relationship: excluded_subClassOf MONDO:0018231 {source="Orphanet:2762", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 {source="MONDO:mim2gene_medgen"} ! GNAS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/109/progressive-osseous-heteroplasia" xsd:anyURI {source="GARD:0000109"} @@ -168493,7 +168262,6 @@ is_a: MONDO:0020645 {source="OMIM:166600"} ! autosomal dominant osteopetrosis relationship: excluded_subClassOf MONDO:0020244 {source="Orphanet:53", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete unclassified primitive or secondary maculopathy relationship: excluded_subClassOf MONDO:0020249 {source="Orphanet:53", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary optic neuropathy relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2025 {source="MONDO:mim2gene_medgen"} ! CLCN7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -168533,7 +168301,6 @@ is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy relationship: excluded_subClassOf MONDO:0017198 {source="Orphanet:1306", source="https://orcid.org/0000-0001-5208-3432"} ! osteopetrosis relationship: excluded_subClassOf MONDO:0019292 {source="Orphanet:1306", source="Orphanet:1306/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete dermis elastic tissue disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28887 {source="MONDO:mim2gene_medgen"} ! LEMD3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI @@ -168633,6 +168400,7 @@ xref: OMIM:166760 {source="MONDO:equivalentTo"} xref: UMLS:C1833692 {source="MEDGEN:318936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0005441 ! otitis media +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23336 {source="OMIM:166760"} [Term] id: MONDO:0008163 @@ -168714,7 +168482,6 @@ xref: SCTID:191169008 {source="MONDO:equivalentTo"} xref: UMLS:C1862322 {source="MEDGEN:350649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017319 ! hereditary elliptocytosis is_a: MONDO:0020102 {source="Orphanet:98868"} ! hereditary stomatocytosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11027 {source="MONDO:mim2gene_medgen"} ! SLC4A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -168854,6 +168621,7 @@ is_a: MONDO:0021068 {source="MONDO:Redundant", source="NCIT:C7431"} ! ovarian ne intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000992 ! ovary relationship: disease_has_location UBERON:0000992 ! ovary +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8143 {source="OMIM:167000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -168934,7 +168702,6 @@ xref: UMLS:C1706595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016471 {source="DC-OMIM:167200", source="MONDO:Redundant", source="OMIM:167200"} ! pachyonychia congenita intersection_of: MONDO:0016471 ! pachyonychia congenita intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6423 ! KRT16 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6423 {source="MONDO:mim2gene_medgen"} ! KRT16 [Term] id: MONDO:0008174 @@ -168958,7 +168725,6 @@ xref: UMLS:C1721007 {source="MEDGEN:314107", source="MONDO:equivalentTo", source is_a: MONDO:0016471 {source="DC-OMIM:167210", source="MONDO:Redundant", source="OMIM:167210"} ! pachyonychia congenita intersection_of: MONDO:0016471 ! pachyonychia congenita intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6427 ! KRT17 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6427 {source="MONDO:mim2gene_medgen"} ! KRT17 [Term] id: MONDO:0008175 @@ -169005,7 +168771,6 @@ xref: UMLS:C4085252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005382 {source="DC-OMIM:167250", source="DOID:0081366", source="OMIM:167250"} ! bone Paget disease is_a: MONDO:0800464 {source="PMID:33145792", source="https://clinicalgenome.org/affiliation/40060/"} ! SQSTM1-related multisystem proteinopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="MONDO:mim2gene_medgen"} ! SQSTM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI [Term] @@ -169099,7 +168864,6 @@ xref: Orphanet:46348 {source="MONDO:equivalentTo", source="OMIM:167400"} xref: SCTID:699190008 {source="MONDO:equivalentTo"} xref: UMLS:C1833661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331565"} is_a: MONDO:0700057 {source="https://orcid.org/0000-0001-5208-3432"} ! neurological pain disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10597 {source="MONDO:mim2gene_medgen"} ! SCN9A property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12854/paroxysmal-extreme-pain-disorder" xsd:anyURI {source="GARD:0012854"} [Term] @@ -169290,7 +169054,6 @@ xref: OMIM:167870 {source="MONDO:equivalentTo"} xref: UMLS:C1868649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401493"} is_a: MONDO:0003847 {source="OMIM:167870"} ! hereditary disease is_a: MONDO:0031240 {source="DC-OMIM:167870", source="OMIM:167870"} ! familial panic disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2228 {source="MONDO:mim2gene_medgen"} ! COMT property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -169374,7 +169137,6 @@ is_a: MONDO:0000448 {source="DC-OMIM:168000", source="MONDO:Redundant", source=" is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma intersection_of: MONDO:0000448 ! paraganglioma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10683 ! SDHD -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10683 {source="MONDO:mim2gene_medgen"} ! SDHD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -169440,7 +169202,6 @@ xref: SCTID:41574007 {source="MONDO:equivalentTo"} xref: UMLS:C0221055 {source="MEDGEN:113142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016120 {source="Orphanet:684"} ! myotonic syndrome is_a: MONDO:0019119 {source="Orphanet:684"} ! muscular channelopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10591 {source="MONDO:mim2gene_medgen"} ! SCN4A [Term] id: MONDO:0008196 @@ -169465,7 +169226,6 @@ xref: SCTID:722210007 {source="MONDO:equivalentTo"} xref: UMLS:C1868616 {source="MEDGEN:358366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018240 {source="Orphanet:2646"} ! TRPV4-related bone disorder is_a: MONDO:0019698 {source="Orphanet:2646"} ! bent bone dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4222/parastremmatic-dwarfism" xsd:anyURI {source="GARD:0004222"} [Term] @@ -169495,7 +169255,6 @@ xref: UMLS:C1868599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018953 {source="DC-OMIM:168500", source="MONDO:Redundant", source="OMIM:168500"} ! parietal foramina intersection_of: MONDO:0018953 ! parietal foramina intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7392 ! MSX2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7392 {source="MONDO:mim2gene_medgen"} ! MSX2 [Term] id: MONDO:0008198 @@ -169521,7 +169280,6 @@ xref: OMIM:168550 {source="Orphanet:251290/e", source="MONDO:equivalentTo", sour xref: Orphanet:251290 {source="OMIM:168550", source="MONDO:equivalentTo"} xref: UMLS:C1868597 {source="MONDO:equivalentTo", source="MEDGEN:401479", source="MONDO:MEDGEN"} is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7392 {source="MONDO:mim2gene_medgen"} ! MSX2 [Term] id: MONDO:0008199 @@ -169589,7 +169347,6 @@ xref: UMLS:C1868595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005180 {source="DOID:0060367/inferred", source="MESH:C566823", source="MONDO:Redundant", source="OMIM:168601"} ! Parkinson disease is_a: MONDO:0008199 {source="DOID:0060367", source="Orphanet:411602"} ! late-onset Parkinson disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11138 {source="MONDO:mim2gene_medgen"} ! SNCA [Term] id: MONDO:0008201 @@ -169617,7 +169374,6 @@ xref: SCTID:699184009 {source="MONDO:equivalentTo"} xref: UMLS:C1868594 {source="MEDGEN:357007", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="DOID:0060486"} ! syndromic disease is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2711 {source="MONDO:mim2gene_medgen"} ! DCTN1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10453/perry-syndrome" xsd:anyURI {source="GARD:0010453"} [Term] @@ -169702,6 +169458,7 @@ xref: Orphanet:1179 {source="MONDO:equivalentTo", source="OMIM:168885"} xref: SCTID:763127004 {source="MONDO:equivalentTo"} xref: UMLS:C1868576 {source="MEDGEN:401473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005395 {source="MONDO:0017657-obsoleted"} ! movement disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1165 {source="OMIM:168885"} [Term] id: MONDO:0008207 @@ -169775,7 +169532,6 @@ xref: UMLS:C1868570 {source="MEDGEN:358356", source="MONDO:equivalentTo", source is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0011827 {source="DOID:0060563", source="MESH:C566815"} ! patent ductus arteriosus is_a: MONDO:0015160 {source="Orphanet:46627"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11743 {source="MONDO:mim2gene_medgen"} ! TFAP2B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1237/char-syndrome" xsd:anyURI {source="GARD:0001237"} @@ -169808,7 +169564,6 @@ xref: UMLS:C4551999 {source="MEDGEN:1646806", source="MONDO:equivalentTo", sourc is_a: MONDO:0020381 {source="DOID:0060866", source="MONDO:Redundant", source="OMIM:169150"} ! patterned macular dystrophy intersection_of: MONDO:0020381 ! patterned macular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9942 ! PRPH2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9942 {source="MONDO:mim2gene_medgen"} ! PRPH2 [Term] id: MONDO:0008211 @@ -169890,7 +169645,6 @@ is_a: MONDO:0000426 {source="DOID:9631", source="MONDO:Redundant"} ! autosomal d is_a: MONDO:0004805 {source="https://rarediseases.info.nih.gov/diseases/9148/pelger-huet-anomaly"} ! leukocyte disorder is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:169400"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6518 {source="MONDO:mim2gene_medgen"} ! LBR [Term] id: MONDO:0008215 @@ -169926,7 +169680,6 @@ xref: UMLS:C1868512 {source="MONDO:equivalentTo", source="MEDGEN:356995", source is_a: MONDO:0016956 {source="Orphanet:99027"} ! partial trisomy of the long arm of chromosome 5 is_a: MONDO:0019046 {source="DOID:0060785", source="Orphanet:99027", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6637 {source="MONDO:mim2gene_medgen"} ! LMNB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -170000,7 +169753,7 @@ xref: SCTID:79468000 {source="MONDO:equivalentTo", source="DOID:0050429"} xref: UMLS:C0085106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43100"} is_a: MONDO:0006594 {source="DOID:0050429", source="NCIT:C82865"} ! pemphigus is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13211 {source="MONDO:mim2gene_medgen"} ! ATP2C1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13211 {source="OMIM:169600"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6559/hailey-hailey-disease" xsd:anyURI {source="GARD:0006559"} [Term] @@ -170076,7 +169829,7 @@ is_a: MONDO:0019232 {source="Orphanet:742", source="PMID:33340416"} ! inborn dis relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:742", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder relationship: excluded_subClassOf MONDO:0019520 {source="MONDO:Entailed", source="Orphanet:742", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic lymphedema -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8840 {source="MONDO:mim2gene_medgen"} ! PEPD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8840 {source="OMIM:170100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI @@ -170123,7 +169876,6 @@ is_a: MONDO:0019119 {source="Orphanet:37553"} ! muscular channelopathy is_a: MONDO:0019171 {source="OMIM:170390"} ! familial long QT syndrome relationship: disease_has_feature HP:0000347 ! Micrognathia relationship: disease_has_feature HP:0004308 ! Ventricular arrhythmia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6263 {source="MONDO:mim2gene_medgen"} ! KCNJ2 [Term] id: MONDO:0008223 @@ -170212,7 +169964,6 @@ is_a: MONDO:0000995 {source="DOID:14451", source="Orphanet:682"} ! familial peri is_a: MONDO:0800468 {source="PMID:32849172", source="https://clinicalgenome.org/affiliation/40060/"} ! SCN4A-related channelopathy intersection_of: MONDO:0000995 ! familial periodic paralysis intersection_of: disease_has_feature HP:0002153 ! Hyperkalemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10591 {source="MONDO:mim2gene_medgen"} ! SCN4A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI @@ -170262,7 +170013,6 @@ xref: SCTID:49965002 {source="DOID:1474"} xref: UMLS:C4551681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644602"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005593 {source="OMIM:170650"} ! chronic periodontitis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2528 {source="MONDO:mim2gene_medgen"} ! CTSC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -170414,6 +170164,7 @@ xref: Orphanet:29072 {source="OMIM:171300"} xref: UMLS:C0031511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18419"} is_a: MONDO:0005165 {source="DOID:0050771", source="DOID:0050771/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26038 {source="OMIM:171300"} [Term] id: MONDO:0008234 @@ -170470,7 +170221,6 @@ is_a: MONDO:0017169 {source="MONDO:Redundant", source="NCIT:C3226/inferred", sou is_a: MONDO:0019003 {source="NCIT:C3226", source="Orphanet:247698"} ! multiple endocrine neoplasia type 2 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008234 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:171400", source="Orphanet:247698"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9967 {source="MONDO:mim2gene_medgen"} ! RET property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a" xsd:anyURI {source="GARD:0004881"} @@ -170706,7 +170456,6 @@ xref: Orphanet:251295 {source="MONDO:equivalentTo", source="OMIM:172870"} xref: SCTID:723450004 {source="MONDO:equivalentTo"} xref: UMLS:C1868310 {source="MONDO:equivalentTo", source="MEDGEN:401413", source="MONDO:MEDGEN"} is_a: MONDO:0019118 {source="Orphanet:251295"} ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2343 {source="MONDO:mim2gene_medgen"} ! CRB1 [Term] id: MONDO:0008247 @@ -170799,7 +170548,6 @@ xref: Orphanet:631 {source="OMIM:173100"} xref: SCTID:237687003 {source="MONDO:equivalentTo"} xref: UMLS:C0271567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124405"} is_a: MONDO:0000050 {source="DC-OMIM:173100", source="DOID:0060872", source="OMIM:173100", source="Orphanet:231679"} ! isolated congenital growth hormone deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4261 {source="MONDO:mim2gene_medgen"} ! GH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1696/isolated-growth-hormone-deficiency-type-2" xsd:anyURI {source="GARD:0001696"} @@ -170834,7 +170582,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o relationship: excluded_subClassOf MONDO:0005083 {source="DOID:9212", source="https://orcid.org/0000-0001-5208-3432"} ! psoriasis relationship: excluded_subClassOf MONDO:0006547 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! exanthem relationship: excluded_subClassOf MONDO:0019270 {source="Orphanet:2897", source="https://orcid.org/0000-0001-5208-3432"} ! erythrokeratoderma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16446 {source="MONDO:mim2gene_medgen"} ! CARD14 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3470" xsd:anyURI [Term] @@ -170931,7 +170678,6 @@ xref: SCTID:715219001 {source="MONDO:equivalentTo"} xref: UMLS:C1868193 {source="MEDGEN:357445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002076 {source="DOID:0080218", source="MESH:C566795"} ! pneumothorax is_a: MONDO:0005087 {source="Orphanet:2903"} ! respiratory system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27310 {source="MONDO:mim2gene_medgen"} ! FLCN [Term] id: MONDO:0008260 @@ -170965,7 +170711,7 @@ xref: Orphanet:2908 {source="MONDO:equivalentTo"} xref: SCTID:238836000 {source="MONDO:equivalentTo"} xref: UMLS:C0406557 {source="MONDO:equivalentTo", source="MEDGEN:96060", source="MONDO:MEDGEN"} is_a: MONDO:0019276 {source="Orphanet:2908"} ! inherited epidermolysis bullosa -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15889 {source="MONDO:mim2gene_medgen"} ! FERMT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15889 {source="OMIM:173650"} [Term] id: MONDO:0008261 @@ -171059,9 +170805,9 @@ xref: SCTID:253878003 {source="MONDO:equivalentTo"} xref: UMLS:C3149841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461191"} is_a: MONDO:0004691 {source="DC-OMIM:173900", source="DOID:0110858", source="MONDO:Redundant", source="OMIM:173900"} ! autosomal dominant polycystic kidney disease intersection_of: MONDO:0004691 ! autosomal dominant polycystic kidney disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9008 ! PKD1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9008 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:173900"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9008 {source="MONDO:mim2gene_medgen"} ! PKD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9008 {source="OMIM:173900"} [Term] id: MONDO:0008264 @@ -171133,6 +170879,7 @@ intersection_of: disease_has_basis_in_disruption_of http://identifiers.org/hgnc/ intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008265 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:174050", source="Orphanet:2924"} ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9411 {source="OMIM:174050"} [Term] id: MONDO:0008266 @@ -171154,7 +170901,6 @@ xref: Orphanet:93334 {source="OMIM:174200"} xref: Orphanet:93335 {source="MONDO:relatedTo", source="OMIM:174200"} xref: UMLS:C4282400 {source="MEDGEN:924305", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4319 {source="MONDO:mim2gene_medgen"} ! GLI3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -171197,7 +170943,7 @@ xref: SCTID:722105002 {source="MONDO:equivalentTo"} xref: UMLS:C1868118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358131"} is_a: MONDO:0015375 {source="DC-OMIM:174300", source="DOID:0060375", source="MESH:C557819", source="OMIM:174300", source="Orphanet:2919"} ! orofaciodigital syndrome relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2919", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25360 {source="MONDO:mim2gene_medgen"} ! DDX59 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25360 {source="OMIM:174300"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5" xsd:anyURI {source="GARD:0004120"} @@ -171298,7 +171044,6 @@ xref: Orphanet:93336 {source="MONDO:equivalentTo", source="OMIM:174500"} xref: SCTID:715710001 {source="MONDO:equivalentTo"} xref: UMLS:C1868114 {source="MEDGEN:357423", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017425 {source="DC-OMIM:174500", source="OMIM:174500", source="Orphanet:93336"} ! preaxial polydactyly of fingers -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13243 {source="MONDO:mim2gene_medgen"} ! LMBR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -171371,7 +171116,6 @@ is_a: MONDO:0017425 {source="DC-OMIM:174700", source="OMIM:174700", source="Orph is_a: MONDO:0021651 {source="https://github.com/monarch-initiative/mondo/issues/3919", source="https://orcid.org/0000-0002-4142-7153"} ! synpolydactyly is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism relationship: excluded_subClassOf MONDO:0005066 {source="NCIT:C125597", source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4319 {source="MONDO:mim2gene_medgen"} ! GLI3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1616/crossed-polydactyly-type-1" xsd:anyURI {source="GARD:0001616"} @@ -171459,7 +171203,6 @@ xref: Orphanet:85195 {source="OMIM:174810", source="MONDO:equivalentTo"} xref: SCTID:254153009 {source="MONDO:equivalentTo"} xref: UMLS:C0432292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96593"} is_a: MONDO:0019707 {source="Orphanet:85195", source="PMID:31633310"} ! primary osteolysis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11908 {source="MONDO:mim2gene_medgen"} ! TNFRSF11A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -171488,7 +171231,6 @@ xref: UMLS:C1868081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000426 {source="DOID:0050787", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0017380 {source="Orphanet:329971"} ! juvenile polyposis syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:174900", source="Orphanet:329971"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6770 {source="https://clinicalgenome.org/affiliation/40043/"} ! SMAD4 [Term] id: MONDO:0008277 @@ -171538,7 +171280,6 @@ is_a: MONDO:0015185 {source="https://orcid.org/0000-0001-5208-3432"} ! intestina is_a: MONDO:0015356 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008278 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0017380 {source="Orphanet:2929/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! juvenile polyposis syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6770 {source="MONDO:mim2gene_medgen", source="https://clinicalgenome.org/affiliation/40028"} ! SMAD4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3685" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI @@ -171602,7 +171343,6 @@ is_a: MONDO:0015356 {source="MESH:D010580", source="MONDO:Redundant", source="NC relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008280 {source="MONDO:CLINGEN"} relationship: disease_has_feature MONDO:0006365 {source="NCIT:C3324"} ! Peutz-Jeghers polyp relationship: disease_has_feature MONDO:0019289 {source="Orphanet:2869"} ! hyperpigmentation of the skin -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11389 {source="MONDO:mim2gene_medgen"} ! STK11 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome" xsd:anyURI {source="GARD:0007378"} [Term] @@ -171748,7 +171488,6 @@ xref: UMLS:C0265306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35255"} ! syndromic disease is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism relationship: excluded_subClassOf MONDO:0019796 {source="DOID:14761", source="https://orcid.org/0000-0001-5208-3432"} ! acrocephalosyndactyly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4319 {source="MONDO:mim2gene_medgen"} ! GLI3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6550/greig-cephalopolysyndactyly-syndrome" xsd:anyURI {source="GARD:0006550"} @@ -171816,7 +171555,6 @@ xref: UMLS:C4551998 {source="MEDGEN:1647320", source="MONDO:equivalentTo", sourc is_a: MONDO:0017410 {source="MONDO:Redundant", source="OMIM:175780"} ! porencephaly is_a: MONDO:0020496 {source="DOID:0090125", source="OMIM:175780", source="Orphanet:99810/btnt"} ! familial porencephaly relationship: excluded_subClassOf MONDO:0018790 {source="Orphanet:36383", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2202 {source="MONDO:mim2gene_medgen"} ! COL4A1 [Term] id: MONDO:0008290 @@ -171833,7 +171571,7 @@ xref: OMIM:175800 {source="MONDO:equivalentTo"} xref: Orphanet:735 {source="OMIM:175800"} is_a: MONDO:0006602 {source="MONDO:0008290/inferred", source="MONDO:Redundant", source="OMIM:175800"} ! porokeratosis is_a: MONDO:0019141 {source="Orphanet:735/btnt"} ! porokeratosis of Mibelli -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9141 {source="MONDO:mim2gene_medgen"} ! PMVK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9141 {source="OMIM:175800"} [Term] id: MONDO:0008291 @@ -171913,7 +171651,6 @@ xref: UMLS:C1867981 {source="MEDGEN:401352", source="MONDO:equivalentTo", source is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:175900"} ! porokeratosis is_a: MONDO:0019141 {source="Orphanet:735/btnt"} ! porokeratosis of Mibelli is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7530 {source="MONDO:mim2gene_medgen"} ! MVK [Term] id: MONDO:0008294 @@ -171961,7 +171698,6 @@ is_a: MONDO:0002520 {source="DOID:3890", source="MESH:D017118", source="Orphanet is_a: MONDO:0019142 {source="DOID:3890/inferred", source="MESH:D017118/inferred", source="MONDO:Redundant", source="NCIT:C84536", source="Orphanet:79276/inferred"} ! inherited porphyria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008294 {source="MONDO:CLINGEN"} relationship: has_characteristic PATO:0000389 ! acute -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4982 {source="MONDO:mim2gene_medgen"} ! HMBS [Term] id: MONDO:0008295 @@ -172030,7 +171766,6 @@ is_a: MONDO:0015104 {source="MONDO:Redundant", source="Orphanet:443062"} ! porph intersection_of: MONDO:0015104 ! porphyria cutanea tarda intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12591 {source="OMIM:176100"} ! UROD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5128" xsd:anyURI @@ -172183,7 +171918,6 @@ xref: Orphanet:2957 {source="MONDO:equivalentTo", source="OMIM:176305"} xref: SCTID:722452004 {source="MONDO:equivalentTo"} xref: UMLS:C1867801 {source="MEDGEN:401304", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="DOID:0111544", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5102 {source="MONDO:mim2gene_medgen"} ! HOXA13 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -172207,7 +171941,6 @@ is_a: MONDO:0000088 {source="MONDO:Redundant", source="OMIM:176400"} ! precociou is_a: MONDO:0019165 {source="DOID:0112310", source="MONDO:Redundant", source="OMIM:176400", source="Orphanet:759/btnt"} ! central precocious puberty intersection_of: MONDO:0019165 ! central precocious puberty intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4510 ! KISS1R -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4510 {source="MONDO:mim2gene_medgen"} ! KISS1R [Term] id: MONDO:0008303 @@ -172247,7 +171980,6 @@ xref: UMLS:C0342549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015791 {source="Orphanet:3000"} ! peripheral precocious puberty intersection_of: MONDO:0015791 ! peripheral precocious puberty intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6585 ! LHCGR -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6585 {source="MONDO:mim2gene_medgen"} ! LHCGR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -172260,7 +171992,6 @@ xref: MEDGEN:400517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:176430 {source="MONDO:equivalentTo"} xref: UMLS:C1864389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400517"} is_a: MONDO:0003847 {source="EFO:0009077", source="OMIM:176430"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1149 {source="MONDO:mim2gene_medgen"} ! BUB1B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -172297,7 +172028,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditar is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder is_a: MONDO:0018230 {source="PMID:33836786", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia is_a: MONDO:0018234 {source="PMID:33836786", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4979 {source="MONDO:mim2gene_medgen"} ! MNX1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4979 {source="OMIM:176450"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI @@ -172336,7 +172067,6 @@ xref: Orphanet:97345 {source="MONDO:equivalentTo", source="GARD:0008344", source xref: UMLS:C5190835 {source="MEDGEN:1677186", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005620 {source="DC-OMIM:176500", source="DOID:0070029", source="MESH:C538208/inferred"} ! cerebral amyloid angiopathy is_a: MONDO:0018591 {source="Orphanet:97345"} ! ITM2B amyloidosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6174 {source="MONDO:mim2gene_medgen"} ! ITM2B property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8344/dementia-familial-british" xsd:anyURI {source="GARD:0008344"} [Term] @@ -172427,7 +172157,6 @@ is_a: MONDO:0019707 {source="Orphanet:740", source="PMID:31633310"} ! primary os is_a: MONDO:0020732 {source="MONDO:OMIMPS", source="OMIM:176670"} ! progeria is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:176670", source="Orphanet:740"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI @@ -172581,7 +172310,6 @@ xref: Orphanet:745 {source="OMIM:176860"} xref: UMLS:C2674321 {source="MEDGEN:436138", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019145 {source="DOID:0111909", source="Orphanet:745/btnt"} ! hereditary thrombophilia due to congenital protein C deficiency is_a: MONDO:0100240 {source="MONDO:Redundant", source="OMIM:176860"} ! inherited thrombophilia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9451 {source="MONDO:mim2gene_medgen"} ! PROC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -172631,7 +172359,6 @@ is_a: MONDO:0017623 {source="DOID:13482", source="Orphanet:744"} ! PTEN hamartom is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia is_a: MONDO:0019716 {source="Orphanet:744"} ! overgrowth syndrome relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:744", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/391 {source="MONDO:mim2gene_medgen"} ! AKT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -172663,7 +172390,7 @@ xref: UMLS:C4692546 {source="MEDGEN:1643471", source="MONDO:equivalentTo", sourc is_a: MONDO:0019142 {source="MONDO:Redundant", source="NCIT:C84698"} ! inherited porphyria is_a: MONDO:0019263 {source="DC-OMIM:177000", source="OMIM:177000"} ! autosomal erythropoietic protoporphyria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008319 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3647 {source="MONDO:mim2gene_medgen"} ! FECH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3647 {source="OMIM:177000"} [Term] id: MONDO:0008320 @@ -172726,7 +172453,6 @@ xref: UMLS:C0410538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005516 {source="DOID:0080047", source="MESH:C535819/inferred"} ! osteochondrodysplasia is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008322 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2227 {source="MONDO:mim2gene_medgen"} ! COMP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4540/pseudoachondroplasia" xsd:anyURI {source="GARD:0004540"} @@ -172830,7 +172556,6 @@ is_a: MONDO:0001554 {source="DOID:13641"} ! phacogenic glaucoma is_a: MONDO:0002254 {source="NCIT:C129025"} ! syndromic disease is_a: MONDO:0002289 {source="DOID:13641", source="MESH:D017889"} ! iris disorder is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6665 {source="MONDO:mim2gene_medgen", source="PMID:31563608"} ! LOXL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -172881,7 +172606,6 @@ xref: Orphanet:756 {source="DOID:0060855", source="OMIM:177735"} xref: UMLS:C1449842 {source="MEDGEN:260623", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019161 {source="Orphanet:171871"} ! pseudohypoaldosteronism type 1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008329 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7979 {source="MONDO:mim2gene_medgen"} ! NR3C2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9145/autosomal-dominant-pseudohypoaldosteronism-type-1" xsd:anyURI {source="GARD:0009145"} @@ -172957,7 +172681,6 @@ is_a: MONDO:0019565 {source="MONDO:Redundant", source="NCIT:C131681"} ! heredita is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder is_a: MONDO:0024574 {source="MESH:C536458", source="NCIT:C131681"} ! von Willebrand disease (hereditary or acquired) relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008332 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4439 {source="MONDO:mim2gene_medgen"} ! GP1BA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5623" xsd:anyURI [Term] @@ -172975,7 +172698,6 @@ xref: Orphanet:758 {source="OMIM:177850"} xref: UMLS:C1867450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357280"} is_a: MONDO:0100091 {source="https://github.com/monarch-initiative/mondo/issues/1046", source="https://orcid.org/0000-0002-6601-2165"} ! inherited pseudoxanthoma elasticum relationship: excluded_subClassOf MONDO:0009925 {source="DC-OMIM:177850", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive inherited pseudoxanthoma elasticum -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/57 {source="MONDO:mim2gene_medgen"} ! ABCC6 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10104/pseudoxanthoma-elasticum-forme-fruste" xsd:anyURI {source="GARD:0010104"} [Term] @@ -172997,7 +172719,6 @@ is_a: MONDO:0100171 {source="OMIM:177900"} ! psoriasis, susceptibility to intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4933 ! HLA-C intersection_of: predisposes_towards MONDO:0005083 ! psoriasis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4933 {source="MONDO:mim2gene_medgen"} ! HLA-C property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -173095,7 +172816,6 @@ is_a: MONDO:0020937 {source="OMIM:178110", source="https://orcid.org/0000-0002-6 intersection_of: MONDO:0017415 ! multiple pterygium syndrome intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7573 ! MYH3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7573 {source="MONDO:mim2gene_medgen"} ! MYH3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13058/autosomal-dominant-multiple-pterygium-syndrome" xsd:anyURI {source="GARD:0013058"} @@ -173159,7 +172879,6 @@ xref: SCTID:60938005 {source="DOID:0060261"} xref: SCTID:61989004 {source="DOID:0060261"} xref: UMLS:C1867438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357987"} is_a: MONDO:0000728 {source="DOID:0060261", source="MESH:C566737", source="NCIT:C27049"} ! ptosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30939 {source="MONDO:mim2gene_medgen"} ! ZFHX4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4810" xsd:anyURI property_value: IAO:0000589 "congenital ptosis (disease)" xsd:string @@ -173679,7 +173398,6 @@ xref: Orphanet:93608 {source="MONDO:equivalentTo", source="OMIM:179800"} is_a: MONDO:0015827 {source="MONDO:Redundant", source="OMIM:179800", source="Orphanet:93608"} ! distal renal tubular acidosis intersection_of: MONDO:0015827 ! distal renal tubular acidosis intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11027 {source="MONDO:mim2gene_medgen"} ! SLC4A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -173793,7 +173511,6 @@ xref: OMIM:180000 {source="Orphanet:75326", source="MONDO:equivalentTo", source= xref: Orphanet:75326 {source="MONDO:equivalentTo", source="OMIM:180000"} xref: UMLS:C0423401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140840"} is_a: MONDO:0000473 {source="DOID:0111547"} ! arterial disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2202 {source="MONDO:mim2gene_medgen"} ! COL4A1 property_value: IAO:0000589 "retinal arterial tortuosity (disease)" xsd:string [Term] @@ -173877,9 +173594,9 @@ xref: OMIM:180100 {source="DOID:0110390", source="MONDO:equivalentTo"} xref: UMLS:C0220701 {source="MEDGEN:67395", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019200 {source="DC-OMIM:180100", source="DOID:0110390", source="MESH:C538365", source="MONDO:Redundant", source="OMIM:180100", source="OMIM:268000"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10263 ! RP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10263 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10263 {source="MONDO:mim2gene_medgen"} ! RP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10263 {source="OMIM:180100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -173904,8 +173621,8 @@ xref: OMIM:180104 {source="MONDO:equivalentTo", source="DOID:0110387"} xref: UMLS:C1867300 {source="MEDGEN:356743", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019200 {source="DC-OMIM:180104", source="DOID:0110387", source="MESH:C566716", source="MONDO:Redundant", source="OMIM:180104"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10288 ! RP9 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10288 {source="MONDO:mim2gene_medgen"} ! RP9 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10288 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10288 {source="OMIM:180104"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10382/retinitis-pigmentosa-9" xsd:anyURI {source="GARD:0010382"} [Term] @@ -173930,7 +173647,6 @@ xref: UMLS:C1867299 {source="MEDGEN:357247", source="MONDO:equivalentTo", source is_a: MONDO:0019200 {source="DC-OMIM:180105", source="DOID:0110388", source="MESH:C566715", source="MONDO:Redundant", source="OMIM:180105"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6052 ! IMPDH1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6052 {source="MONDO:mim2gene_medgen"} ! IMPDH1 [Term] id: MONDO:0008380 @@ -174116,7 +173832,6 @@ is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75015"} ! syndromic is_a: MONDO:0019187 {source="DC-OMIM:180500", source="DOID:0110120", source="MONDO:Redundant", source="OMIM:180500"} ! Axenfeld-Rieger syndrome intersection_of: MONDO:0019187 ! Axenfeld-Rieger syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9005 ! PITX2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9005 {source="MONDO:mim2gene_medgen"} ! PITX2 [Term] id: MONDO:0008387 @@ -174144,7 +173859,6 @@ xref: Orphanet:91481 {source="MONDO:equivalentTo", source="OMIM:180550"} xref: SCTID:723499000 {source="MONDO:equivalentTo"} xref: UMLS:C1867155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357922"} is_a: MONDO:0021220 {source="MONDO:Entailed", source="Orphanet:91481"} ! eye neoplasm -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9005 {source="MONDO:mim2gene_medgen"} ! PITX2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea" xsd:anyURI {source="GARD:0009696"} [Term] @@ -174239,7 +173953,6 @@ xref: OMIM:180750 {source="MONDO:equivalentTo"} xref: Orphanet:3106 {source="OMIM:180750", source="MONDO:equivalentObsolete"} xref: UMLS:C1867146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356703"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12428 {source="MONDO:mim2gene_medgen"} ! TWIST1 [Term] id: MONDO:0008392 @@ -174311,7 +174024,6 @@ is_a: MONDO:0019188 {source="DC-OMIM:180849", source="OMIM:180849", source="Orph intersection_of: MONDO:0019188 ! Rubinstein-Taybi syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2348 ! CREBBP relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:180849"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2348 {source="MONDO:mim2gene_medgen"} ! CREBBP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -174438,7 +174150,6 @@ xref: Orphanet:86815 {source="OMIM:180920", source="MONDO:equivalentTo"} xref: SCTID:715656004 {source="MONDO:equivalentTo"} xref: UMLS:C0158667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57641"} is_a: MONDO:0002254 {source="DOID:0111549", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3666 {source="MONDO:mim2gene_medgen"} ! FGF10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI [Term] @@ -174471,7 +174182,6 @@ xref: UMLS:C2697310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4948 ! HLA-DRB1 intersection_of: predisposes_towards MONDO:0019338 ! sarcoidosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4948 {source="MONDO:mim2gene_medgen"} ! HLA-DRB1 [Term] id: MONDO:0008400 @@ -174521,7 +174231,6 @@ xref: UMLS:C1519176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000385 {source="DOID:452"} ! benign digestive system neoplasm is_a: MONDO:0017168 {source="Orphanet:454821"} ! benign epithelial tumor of salivary glands is_a: MONDO:0021043 {source="MESH:D008949", source="NCIT:C8602"} ! mixed neoplasm -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9045 {source="MONDO:mim2gene_medgen"} ! PLAG1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -174610,7 +174319,7 @@ xref: UMLS:C1867020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015161 {source="Orphanet:2036"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019287 {source="DOID:0111550", source="Orphanet:2036"} ! ectodermal dysplasia syndrome is_a: MONDO:0019294 {source="Orphanet:2036"} ! mixed dermis disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18249 {source="MONDO:mim2gene_medgen"} ! KCTD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18249 {source="OMIM:181270"} [Term] id: MONDO:0008405 @@ -174666,7 +174375,6 @@ xref: UMLS:C1867005 {source="MEDGEN:356670", source="MONDO:equivalentTo", source is_a: MONDO:0016187 {source="Orphanet:85146"} ! qualitative or quantitative defects of desmin is_a: MONDO:0020128 {source="MESH:C566695/inferred", source="Orphanet:85146", source="Orphanet:85146/inferred"} ! motor neuron disorder is_a: MONDO:0024257 {source="Orphanet:85146"} ! hereditary motor neuron disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2770 {source="MONDO:mim2gene_medgen"} ! DES property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10312/scapuloperoneal-syndrome-neurogenic-kaeser-type" xsd:anyURI {source="GARD:0010312"} [Term] @@ -174697,7 +174405,6 @@ is_a: MONDO:0000426 {source="DOID:0111552"} ! autosomal dominant disease is_a: MONDO:0001516 {source="OMIM:181405/inferred", source="Orphanet:431255", source="Orphanet:431255/inferred"} ! spinal muscular atrophy is_a: MONDO:0024257 {source="Orphanet:431255"} ! hereditary motor neuron disease relationship: has_characteristic HP:0000006 {source="OMIM:181405"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4 [Term] id: MONDO:0008409 @@ -174740,7 +174447,6 @@ is_a: MONDO:0016106 ! progressive muscular dystrophy is_a: MONDO:0016195 {source="Orphanet:437572"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7) is_a: MONDO:0019952 {source="OMIM:608358"} ! congenital myopathy relationship: disease_has_feature HP:0100306 ! Muscle fiber hyaline bodies -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="MONDO:mim2gene_medgen"} ! MYH7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6045" xsd:anyURI [Term] @@ -174819,7 +174525,7 @@ xref: UMLS:C1866994 {source="MONDO:equivalentTo", source="MEDGEN:357886", source is_a: MONDO:0002254 {source="DOID:0060614", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:3138"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019713 {source="PMID:31633310", source="https://orcid.org/0000-0002-5002-8648"} ! non-syndromic limb reduction defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11602 {source="MONDO:mim2gene_medgen"} ! TBX3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11602 {source="OMIM:181450"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -174997,7 +174703,6 @@ xref: UMLS:C0022603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= xref: Wikipedia:Seborrheic_keratosis {source="EFO:0005584"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0006566 {source="DOID:6498", source="MESH:D017492"} ! keratosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8975 {source="MONDO:mim2gene_medgen"} ! PIK3CA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -175045,7 +174750,6 @@ is_a: MONDO:0015194 {source="DC-OMIM:182170", source="DOID:0060335", source="MES is_a: MONDO:0020099 {source="OMIM:182170"} ! inherited sideroblastic anemia intersection_of: MONDO:0015194 ! sideroblastic anemia intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5244 {source="MONDO:mim2gene_medgen"} ! HSPA9 [Term] id: MONDO:0008423 @@ -175143,7 +174847,7 @@ is_a: MONDO:0015469 {source="https://orcid.org/0000-0002-4142-7153"} ! craniosyn is_a: MONDO:0017310 {source="Orphanet:2462"} ! Marfan and Marfan-related disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008426 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2462", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10896 {source="MONDO:mim2gene_medgen"} ! SKI +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10896 {source="OMIM:182212"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -175203,7 +174907,6 @@ relationship: excluded_subClassOf MONDO:0015310 {source="Orphanet:3157", source= relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease relationship: excluded_subClassOf MONDO:0019827 {source="Orphanet:3157", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disease associated with non-acquired combined pituitary hormone deficiency relationship: excluded_subClassOf MONDO:0020145 {source="MONDO:0020149-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete developmental defect of the eye -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4877 {source="MONDO:mim2gene_medgen"} ! HESX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI [Term] @@ -175329,7 +175032,6 @@ is_a: MONDO:0005138 {source="DOID:5409", source="EFO:0000702", source="MONDO:Red is_a: MONDO:0005454 {source="MONDO:Redundant", source="NCIT:C4917/inferred", source="ONCOTREE:SCLC"} ! lung neuroendocrine neoplasm intersection_of: MONDO:0000402 ! small cell carcinoma intersection_of: disease_has_location UBERON:0002048 ! lung -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9884 {source="MONDO:mim2gene_medgen"} ! RB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -175377,7 +175079,7 @@ is_a: MONDO:0015159 {source="Orphanet:819"} ! multiple congenital anomalies/dysm relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008434 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism relationship: excluded_subClassOf MONDO:0022754 {source="Orphanet:819", source="https://orcid.org/0000-0001-5208-3432"} ! chromosome 17p deletion -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9834 {source="MONDO:mim2gene_medgen"} ! RAI1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9834 {source="OMIM:182290"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5659" xsd:anyURI @@ -175427,7 +175129,6 @@ is_a: MONDO:0000473 {source="DOID:13096"} ! arterial disorder is_a: MONDO:0005385 {source="MONDO:Redundant", source="Orphanet:820", source="https://orcid.org/0000-0001-5208-3432"} ! vascular disorder is_a: MONDO:0019293 {source="MESH:D018860"} ! skin vascular disease is_a: MONDO:0100317 {source="https://clinicalgenome.org/affiliation/40080/"} ! deficiency of adenosine deaminase 2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1839 {source="MONDO:mim2gene_medgen"} ! ADA2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6166" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome" xsd:anyURI {source="GARD:0007664"} @@ -175470,7 +175171,6 @@ xref: UMLS:C2931355 {source="MONDO:equivalentTo", source="MEDGEN:419393", source is_a: MONDO:0019064 {source="DOID:0110791", source="MESH:C536864", source="MONDO:Redundant", source="NCIT:C142893", source="OMIM:182600", source="Orphanet:100984/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11231 ! ATL1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11231 {source="MONDO:mim2gene_medgen"} ! ATL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -175508,9 +175208,9 @@ xref: UMLS:C1866855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019064 {source="DOID:0110792", source="MESH:C536865", source="MONDO:Redundant", source="NCIT:C129981", source="OMIM:182601", source="Orphanet:100985/inferred"} ! hereditary spastic paraplegia is_a: MONDO:0100523 {source="https://clinicalgenome.org/affiliation/40006/"} ! SPAST-related motor disorder intersection_of: MONDO:0019064 ! hereditary spastic paraplegia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11233 ! SPAST +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11233 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11233 {source="MONDO:mim2gene_medgen"} ! SPAST +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11233 {source="OMIM:182601"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6279" xsd:anyURI [Term] @@ -175682,8 +175382,8 @@ xref: Orphanet:822 {source="OMIM:182900"} xref: UMLS:C2674218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382302"} is_a: MONDO:0019350 {source="DOID:0110916", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis intersection_of: MONDO:0019350 ! hereditary spherocytosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/492 ! ANK1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/492 {source="MONDO:mim2gene_medgen"} ! ANK1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/492 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/492 {source="OMIM:182900"} [Term] id: MONDO:0008448 @@ -175818,7 +175518,6 @@ xref: Orphanet:209335 {source="MONDO:equivalentTo", source="OMIM:182980"} xref: UMLS:C1854058 {source="MEDGEN:340120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001516 {source="DC-OMIM:182980", source="DOID:0111194"} ! spinal muscular atrophy is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12649 {source="MONDO:mim2gene_medgen"} ! VAPB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI [Term] @@ -175890,7 +175589,6 @@ is_a: MONDO:0019793 {source="MONDO:Redundant", source="Orphanet:98758"} ! autoso is_a: MONDO:0100254 {source="https://clinicalgenome.org/affiliation/40006/"} ! CACNA1A-related complex neurodevelopmental disorder intersection_of: MONDO:0019793 ! autosomal dominant cerebellar ataxia type III intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 ! CACNA1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 {source="MONDO:mim2gene_medgen"} ! CACNA1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5753" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10351/spinocerebellar-ataxia-type-6" xsd:anyURI {source="GARD:0010351"} @@ -175944,7 +175642,6 @@ is_a: MONDO:0015548 {source="Orphanet:98756"} ! Huntington disease-like syndrome is_a: MONDO:0019792 {source="MONDO:Redundant", source="Orphanet:98756"} ! autosomal dominant cerebellar ataxia type I intersection_of: MONDO:0019792 ! autosomal dominant cerebellar ataxia type I intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10555 ! ATXN2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10555 {source="MONDO:mim2gene_medgen"} ! ATXN2 [Term] id: MONDO:0008459 @@ -176220,7 +175917,6 @@ xref: UMLS:C2745959 {source="MEDGEN:412530", source="MONDO:equivalentTo", source is_a: MONDO:0016761 {source="DOID:14789", source="Orphanet:94068"} ! spondyloepiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:94068", source="PMID:31633310"} ! type 2 collagenopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008471 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5285" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita" xsd:anyURI {source="GARD:0004987"} @@ -176274,7 +175970,6 @@ xref: UMLS:C3159322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018240 {source="Orphanet:263482", source="PMID:31633310"} ! TRPV4-related bone disorder is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="Orphanet:263482", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2706" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI @@ -176375,7 +176070,6 @@ relationship: disease_has_feature HP:0003307 ! Hyperlordosis relationship: disease_has_feature HP:0004322 ! Short stature relationship: disease_has_feature MONDO:0005392 ! scoliosis relationship: excluded_subClassOf MONDO:0016761 {source="DOID:0080028", source="Orphanet:93346", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/134/spondyloepimetaphyseal-dysplasia-strudwick-type" xsd:anyURI {source="GARD:0000134"} @@ -176411,7 +176105,6 @@ is_a: MONDO:0016763 {source="DC-OMIM:184252", source="DOID:0111554", source="OMI is_a: MONDO:0018240 {source="Orphanet:93314", source="PMID:31633310"} ! TRPV4-related bone disorder intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 ! TRPV4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3047/spondylometaphyseal-dysplasia-kozlowski-type" xsd:anyURI {source="GARD:0003047"} @@ -176542,7 +176235,6 @@ xref: OMIM:184450 {source="MONDO:equivalentTo"} xref: UMLS:C3489627 {source="MEDGEN:483580", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000723 {source="DC-OMIM:184450", source="OMIM:184450"} ! stutter disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/573 {source="MONDO:mim2gene_medgen"} ! AP4E1 [Term] id: MONDO:0008484 @@ -176569,7 +176261,6 @@ xref: SCTID:719305006 {source="MONDO:equivalentTo"} xref: UMLS:C1866656 {source="MEDGEN:357104", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="Orphanet:140917/inferred"} ! hereditary disease is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! NOG-related symphalangism spectrum disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 {source="MONDO:mim2gene_medgen"} ! NOG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6338" xsd:string [Term] @@ -176597,7 +176288,6 @@ xref: SCTID:109433009 {source="MONDO:equivalentTo"} xref: UMLS:C0259771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75476"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0006607 {source="DOID:0111556", source="DOID:9098", source="https://orcid.org/0000-0001-5208-3432"} ! sebaceous gland disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6427 {source="MONDO:mim2gene_medgen"} ! KRT17 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI [Term] @@ -176763,7 +176453,6 @@ is_a: MONDO:0015161 {source="Orphanet:166100"} ! multiple congenital anomalies/d is_a: MONDO:0016761 {source="Orphanet:166100", source="Orphanet:3450"} ! spondyloepiphyseal dysplasia relationship: disease_has_feature MONDO:0004603 ! collagenopathy relationship: excluded_subClassOf MONDO:0019354 {source="DC-OMIM:184840", source="https://orcid.org/0000-0001-5208-3432"} ! Stickler syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 {source="MONDO:mim2gene_medgen"} ! COL11A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -176837,7 +176526,6 @@ xref: Orphanet:2833 {source="OMIM:184900", source="MONDO:equivalentTo"} xref: SCTID:765187004 {source="MONDO:equivalentTo"} xref: UMLS:C1861456 {source="MONDO:equivalentTo", source="MEDGEN:348877", source="MONDO:MEDGEN"} is_a: MONDO:0005093 {source="Orphanet:2833", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome" xsd:anyURI {source="GARD:0005025"} [Term] @@ -177081,7 +176769,6 @@ relationship: excluded_subClassOf MONDO:0015218 {source="Orphanet:3205", source= relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:3205", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations relationship: excluded_subClassOf MONDO:0015651 {source="Orphanet:3205", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neurocutaneous syndrome with epilepsy relationship: excluded_subClassOf MONDO:0018719 {source="Orphanet:3205", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete obsolete rare capillary malformation with associated anomalies -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4390 {source="MONDO:mim2gene_medgen"} ! GNAQ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome" xsd:anyURI {source="GARD:0007706"} @@ -177166,7 +176853,6 @@ xref: SCTID:204436002 {source="DOID:1929"} xref: SCTID:268185002 {source="DOID:1929", source="MONDO:equivalentTo"} xref: UMLS:C0003499 {source="MEDGEN:2001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0042981 {source="DOID:1929"} ! aortic valve stenosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3327 {source="MONDO:mim2gene_medgen"} ! ELN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000589 "supravalvular aortic stenosis (disease)" xsd:string @@ -177385,7 +177071,6 @@ is_a: MONDO:0021651 {source="Orphanet:295195"} ! synpolydactyly is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism intersection_of: MONDO:0000722 ! non-syndromic synpolydactyly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 ! HOXD13 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 {source="MONDO:mim2gene_medgen"} ! HOXD13 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -177423,7 +177108,6 @@ is_a: MONDO:0019530 {source="DC-OMIM:186100", source="MONDO:Redundant", source=" is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism intersection_of: MONDO:0019530 ! non-syndromic syndactyly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 ! GJA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 {source="MONDO:mim2gene_medgen"} ! GJA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5088/syndactyly-type-3" xsd:anyURI {source="GARD:0005088"} @@ -177461,7 +177145,6 @@ is_a: MONDO:0019530 {source="DC-OMIM:186200", source="MONDO:Redundant", source=" is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism intersection_of: MONDO:0019530 ! non-syndromic syndactyly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13243 ! LMBR1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13243 {source="MONDO:mim2gene_medgen"} ! LMBR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4434/syndactyly-type-4" xsd:anyURI {source="GARD:0004434"} @@ -177496,7 +177179,6 @@ xref: SCTID:719159004 {source="MONDO:equivalentTo"} xref: UMLS:C1861348 {source="MONDO:equivalentTo", source="MEDGEN:350010", source="MONDO:MEDGEN"} is_a: MONDO:0019530 {source="DC-OMIM:186300", source="Orphanet:93406"} ! non-syndromic syndactyly is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 {source="MONDO:mim2gene_medgen"} ! HOXD13 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5089/syndactyly-type-5" xsd:anyURI {source="GARD:0005089"} @@ -177575,7 +177257,6 @@ is_a: MONDO:0017923 {source="DC-OMIM:186500", source="DOID:0081317", source="MON is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! NOG-related symphalangism spectrum disorder intersection_of: MONDO:0017923 ! multiple synostoses syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 ! NOG -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 {source="MONDO:mim2gene_medgen"} ! NOG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6338" xsd:anyURI @@ -177609,7 +177290,6 @@ xref: SCTID:764437006 {source="MONDO:equivalentTo"} xref: UMLS:C1861313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396103"} is_a: MONDO:0005497 {source="Orphanet:1275", source="https://orcid.org/0000-0001-5208-3432"} ! bone development disease is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9004 {source="MONDO:mim2gene_medgen"} ! PITX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/966/brachydactyly-elbow-wrist-dysplasia" xsd:anyURI {source="GARD:0000966"} @@ -177644,7 +177324,6 @@ is_a: MONDO:0000426 {source="DOID:0050789", source="MONDO:Redundant"} ! autosoma is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! NOG-related symphalangism spectrum disorder relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:186570", source="Orphanet:1412"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 {source="MONDO:mim2gene_medgen"} ! NOG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6338" xsd:string property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9225/tarsal-carpal-coalition-syndrome" xsd:anyURI {source="GARD:0009225"} @@ -177712,7 +177391,6 @@ relationship: excluded_subClassOf MONDO:0000426 {source="DOID:0050678", source=" relationship: excluded_subClassOf MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C116794", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease relationship: excluded_subClassOf MONDO:0018798 {source="Orphanet:90340", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete other genetic dermis disorder relationship: excluded_subClassOf MONDO:0019295 {source="Orphanet:90340", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete other dermis disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5331 {source="MONDO:mim2gene_medgen"} ! NOD2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/304/blau-syndrome" xsd:anyURI {source="GARD:0000304"} [Term] @@ -177880,7 +177558,7 @@ xref: UMLS:C4551861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019180 {source="DC-OMIM:187300", source="OMIM:187300"} ! hereditary hemorrhagic telangiectasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008535 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:187300"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3349 {source="MONDO:mim2gene_medgen"} ! ENG +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3349 {source="OMIM:187300"} [Term] id: MONDO:0008536 @@ -178158,7 +177836,6 @@ is_a: MONDO:0019685 {source="PMID:31633310"} ! FGFR3-related chondrodysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008546 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0014658 {source="https://orcid.org/0000-0001-5208-3432"} ! severe achondroplasia-developmental delay-acanthosis nigricans syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:187600", source="Orphanet:1860"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -178198,7 +177875,6 @@ xref: UMLS:C1300257 {source="MONDO:equivalentTo", source="MEDGEN:226975", source is_a: MONDO:0017042 {source="DC-OMIM:187601", source="MESH:C536508", source="NCIT:C98584", source="Orphanet:93274"} ! thanatophoric dysplasia is_a: MONDO:0019685 {source="PMID:31633310"} ! FGFR3-related chondrodysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008547 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2" xsd:anyURI {source="GARD:0001402"} @@ -178318,9 +177994,9 @@ xref: Orphanet:721 {source="OMIM:187900"} xref: UMLS:C1861194 {source="MONDO:equivalentTo", source="MEDGEN:396078", source="MONDO:MEDGEN"} is_a: MONDO:0000009 {source="DOID:0111049", source="MONDO:Redundant", source="OMIM:187900"} ! inherited bleeding disorder, platelet-type intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4238 ! GFI1B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4238 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008553 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4238 {source="MONDO:mim2gene_medgen"} ! GFI1B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4238 {source="OMIM:187900"} [Term] id: MONDO:0008554 @@ -178372,6 +178048,7 @@ xref: Orphanet:268322 {source="OMIM:188000"} xref: UMLS:C1861185 {source="MEDGEN:349976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100241 {source="DC-OMIM:188000", source="MESH:C536519", source="MONDO:Redundant", source="OMIM:188000"} ! inherited thrombocytopenia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008555 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29186 {source="OMIM:188000"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5191/thrombocytopenia-2" xsd:anyURI {source="GARD:0005191"} [Term] @@ -178476,7 +178153,6 @@ is_a: MONDO:0004680 {source="DOID:8924"} ! primary thrombocytopenia is_a: MONDO:0019098 {source="MONDO:Redundant", source="Orphanet:3002"} ! autoimmune thrombocytopenia is_a: MONDO:0043768 {source="NCIT:C3446"} ! thrombocytopenic purpura relationship: disease_has_location CL:0000233 {source="EFO:0000784"} ! platelet -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15626 {source="MONDO:mim2gene_medgen"} ! FCGR2C [Term] id: MONDO:0008559 @@ -178550,7 +178226,6 @@ is_a: MONDO:0003847 {source="MESH:D020016/inferred", source="MONDO:Redundant", s is_a: MONDO:0021181 {source="MESH:D020016", source="MONDO:Redundant"} ! inherited blood coagulation disorder is_a: MONDO:0100240 {source="DC-OMIM:188055", source="MESH:D020016", source="OMIM:188055"} ! inherited thrombophilia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008560 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3542 {source="MONDO:mim2gene_medgen"} ! F5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -178730,6 +178405,7 @@ xref: UMLS:C4225426 {source="MEDGEN:904175", source="MONDO:equivalentTo", source is_a: MONDO:0005034 {source="MESH:C572845"} ! thyroid gland follicular carcinoma is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or follicular thyroid carcinoma is_a: MONDO:0017896 {source="OMIM:188470"} ! familial nonmedullary thyroid carcinoma +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17382 {source="OMIM:188470"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -178785,7 +178461,6 @@ xref: Orphanet:3221 {source="OMIM:188570"} xref: UMLS:C2937288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:424846"} is_a: MONDO:0001328 {source="DC-OMIM:188570", source="MESH:C567934", source="MONDO:Redundant", source="MONDO:indirect"} ! thyroid hormone resistance syndrome is_a: MONDO:0009043 {source="Orphanet:3221/btnt"} ! generalized resistance to thyroid hormone -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11799 {source="MONDO:mim2gene_medgen"} ! THRB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -178807,7 +178482,6 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1397 ! CACNA1S intersection_of: predisposes_towards MONDO:0019201 ! thyrotoxic periodic paralysis relationship: excluded_subClassOf MONDO:0019201 {source="OMIM:188580", source="https://orcid.org/0000-0001-5208-3432"} ! thyrotoxic periodic paralysis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1397 {source="MONDO:mim2gene_medgen"} ! CACNA1S relationship: predisposes_towards MONDO:0019201 {source="OMIM:188580"} ! thyrotoxic periodic paralysis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -178863,7 +178537,6 @@ is_a: MONDO:0003847 {source="OMIM:188740"} ! hereditary disease is_a: MONDO:0018234 {source="Orphanet:988"} ! dysostosis is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13243 {source="MONDO:mim2gene_medgen"} ! LMBR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5501" xsd:anyURI @@ -179012,7 +178685,6 @@ xref: UMLS:C0406735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="DOID:6678", source="MONDO:0008582/inferred", source="MONDO:Redundant", source="NCIT:C40553"} ! syndromic disease is_a: MONDO:0019287 {source="OMIM:189500", source="Orphanet:2228"} ! ectodermal dysplasia syndrome relationship: disease_has_feature HP:0000668 ! Hypodontia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7391 {source="MONDO:mim2gene_medgen"} ! MSX1 [Term] id: MONDO:0008583 @@ -179222,7 +178894,6 @@ is_a: MONDO:0003233 {source="DC-OMIM:190300", source="DOID:0111428", source="MES is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003233 ! essential tremor intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3024 ! DRD3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3024 {source="MONDO:mim2gene_medgen"} ! DRD3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -179281,7 +178952,6 @@ is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal is_a: MONDO:0019287 {source="Orphanet:3352"} ! ectodermal dysplasia syndrome relationship: disease_has_feature HP:0011001 {source="Orphanet:3352"} ! Increased bone mineral density relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:3352", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2916 {source="MONDO:mim2gene_medgen"} ! DLX3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -179299,7 +178969,7 @@ xref: OMIM:190330 {source="MONDO:equivalentTo"} xref: Orphanet:411788 {source="OMIM:190330"} xref: UMLS:C0854699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163139"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3683 {source="MONDO:mim2gene_medgen"} ! FGF5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3683 {source="OMIM:190330"} [Term] id: MONDO:0008594 @@ -179378,7 +179048,6 @@ is_a: MONDO:0002254 {source="NCIT:C75109", source="https://orcid.org/0000-0001-5 is_a: MONDO:0017951 {source="OMIM:190350", source="https://orcid.org/0000-0002-4142-7153"} ! trichorhinophalangeal syndrome is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:190350"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12340 {source="MONDO:mim2gene_medgen"} ! TRPS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -179410,7 +179079,6 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic is_a: MONDO:0017951 {source="OMIM:190351", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! trichorhinophalangeal syndrome is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:190351"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12340 {source="MONDO:mim2gene_medgen"} ! TRPS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -179537,7 +179205,6 @@ is_a: MONDO:0000156 {source="MONDO:Redundant", source="OMIM:190440"} ! trigonoce is_a: MONDO:0018065 {source="MONDO:Redundant", source="OMIM:190440", source="Orphanet:3366/btnt"} ! isolated trigonocephaly intersection_of: MONDO:0018065 ! isolated trigonocephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 ! FGFR1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 {source="MONDO:mim2gene_medgen"} ! FGFR1 [Term] id: MONDO:0008604 @@ -179715,7 +179382,7 @@ xref: SCTID:51886007 {source="MONDO:equivalentTo", source="DOID:11661"} xref: SCTID:85049009 {source="DOID:11661"} xref: UMLS:C0155017 {source="MEDGEN:57827", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001703 {source="DOID:11661", source="Orphanet:88629"} ! color vision disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1012 {source="MONDO:mim2gene_medgen"} ! OPN1SW +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1012 {source="OMIM:190900"} [Term] id: MONDO:0008611 @@ -179773,7 +179440,6 @@ intersection_of: MONDO:0001734 ! tuberous sclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12362 ! TSC1 relationship: excluded_subClassOf MONDO:0019341 {source="Orphanet:805/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete tuberous sclerosis complex relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:191100"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12362 {source="MONDO:mim2gene_medgen"} ! TSC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -180199,7 +179865,6 @@ is_a: MONDO:0016168 {source="OMIM:191900", source="Orphanet:575"} ! cryopyrin-as is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119054", source="Orphanet:575/inferred", source="PMID:23827249"} ! autoinflammatory syndrome relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:575", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:191900", source="Orphanet:575"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16400 {source="MONDO:mim2gene_medgen"} ! NLRP3 [Term] id: MONDO:0008634 @@ -180384,7 +180049,6 @@ is_a: MONDO:0700256 {source="https://clinicalgenome.org/affiliation/40060/", sou is_a: MONDO:0957408 {source="Orphanet:247691", source="PMID:37161741"} ! type 1 interferonopathy of childhood relationship: disease_has_feature MONDO:0019118 ! inherited retinal dystrophy relationship: excluded_subClassOf MONDO:0019723 {source="Orphanet:247691", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disease of glomerular basement membrane -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12269 {source="MONDO:mim2gene_medgen"} ! TREX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI @@ -180534,8 +180198,8 @@ is_a: MONDO:0005045 {source="DOID:0110307", source="MONDO:0020484-obsoleted", so is_a: MONDO:0005267 {source="MONDO:0020484-obsoleted"} ! heart disorder is_a: MONDO:0024573 {source="DOID:0110307", source="MONDO:OMIM", source="MONDO:Redundant", source="OMIM:192600"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 ! MYH7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="MONDO:mim2gene_medgen"} ! MYH7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16243 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16243 {source="OMIM:192600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -180559,7 +180223,6 @@ xref: UMLS:C0340485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005477 {source="MONDO:Redundant", source="OMIM:192605"} ! ventricular tachycardia intersection_of: MONDO:0005477 ! ventricular tachycardia intersection_of: has_characteristic MONDO:0021152 ! inherited -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4385 {source="MONDO:mim2gene_medgen"} ! GNAI2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -180647,7 +180310,6 @@ xref: Orphanet:178382 {source="OMIM:192950", source="MONDO:equivalentTo"} xref: SCTID:205082007 {source="MONDO:equivalentTo"} xref: UMLS:C0240912 {source="MEDGEN:66821", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017427 {source="Orphanet:178382"} ! congenital deformities of limbs -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5133 {source="MONDO:mim2gene_medgen"} ! HOXD10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5488/congenital-vertical-talus" xsd:anyURI {source="GARD:0005488"} @@ -180787,7 +180449,6 @@ is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder intersection_of: MONDO:0000044 ! hereditary hypophosphatemic rickets intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:193100", source="Orphanet:89937"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3680 {source="MONDO:mim2gene_medgen"} ! FGF23 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -180844,7 +180505,6 @@ xref: UMLS:C3888099 {source="MEDGEN:854768", source="MONDO:equivalentTo", source is_a: MONDO:0020248 {source="Orphanet:3086"} ! vitreoretinal degeneration is_a: MONDO:0700240 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1-related vitreoretinochoroidopathy relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="MONDO:mim2gene_medgen"} ! BEST1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI @@ -180872,7 +180532,6 @@ xref: OMIM:193230 {source="Orphanet:91496", source="MONDO:equivalentTo", source= xref: Orphanet:91496 {source="MONDO:equivalentTo", source="OMIM:193230"} xref: UMLS:C1860405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395476"} is_a: MONDO:0020248 {source="Orphanet:91496"} ! vitreoretinal degeneration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6259 {source="MONDO:mim2gene_medgen"} ! KCNJ13 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9706/snowflake-vitreoretinal-degeneration" xsd:anyURI {source="GARD:0009706"} [Term] @@ -181010,7 +180669,6 @@ xref: SCTID:128106003 {source="MONDO:equivalentTo"} xref: UMLS:C1264039 {source="MEDGEN:220393", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019565 {source="DC-OMIM:193400", source="DOID:0060573", source="MESH:D056725", source="NCIT:C131685", source="Orphanet:166078"} ! hereditary von Willebrand disease is_a: MONDO:0024574 {source="MESH:D056725", source="NCIT:C131685"} ! von Willebrand disease (hereditary or acquired) -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12726 {source="MONDO:mim2gene_medgen"} ! VWF [Term] id: MONDO:0008669 @@ -181051,7 +180709,6 @@ xref: Orphanet:894 {source="OMIM:193500", source="MONDO:equivalentTo", source="D xref: UMLS:C1847800 {source="MEDGEN:376211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018094 {source="DC-OMIM:193500", source="DOID:0110948", source="NCIT:C75008", source="OMIM:193500", source="Orphanet:894"} ! Waardenburg syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:193500", source="Orphanet:894"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8617 {source="MONDO:mim2gene_medgen"} ! PAX3 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5519/waardenburg-syndrome-type-1" xsd:anyURI {source="GARD:0005519"} [Term] @@ -181082,7 +180739,6 @@ is_a: MONDO:0019517 {source="MONDO:Redundant", source="NCIT:C75011", source="htt intersection_of: MONDO:0019517 ! Waardenburg syndrome type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 ! MITF relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:193510"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 {source="MONDO:mim2gene_medgen"} ! MITF property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5521/waardenburg-syndrome-type-2a" xsd:anyURI {source="GARD:0005521"} [Term] @@ -181106,7 +180762,6 @@ xref: Orphanet:3444 {source="MONDO:equivalentObsolete", source="OMIM:193520"} xref: SCTID:403820003 {source="MONDO:equivalentTo"} xref: UMLS:C0553586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107817"} is_a: MONDO:0011035 ! neurofibromatosis-Noonan syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7765 {source="MONDO:mim2gene_medgen"} ! NF1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5540/watson-syndrome" xsd:anyURI {source="GARD:0005540"} [Term] @@ -181197,7 +180852,6 @@ is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C98931"} ! syndromic is_a: MONDO:0008779 {source="NCIT:C98931"} ! arthrogryposis is_a: MONDO:0015161 {source="Orphanet:2053"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019942 {source="DC-OMIM:193700", source="DOID:0111604", source="OMIM:193700", source="Orphanet:2053"} ! distal arthrogryposis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7573 {source="MONDO:mim2gene_medgen"} ! MYH3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -181223,8 +180877,8 @@ xref: Orphanet:171723 {source="OMIM:193900"} xref: UMLS:C4011926 {source="MEDGEN:860363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015748 {source="DC-OMIM:193900", source="DOID:0081287", source="MONDO:Redundant", source="OMIM:193900"} ! hereditary mucosal leukokeratosis intersection_of: MONDO:0015748 ! hereditary mucosal leukokeratosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6441 ! KRT4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6441 {source="MONDO:mim2gene_medgen"} ! KRT4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6441 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6441 {source="OMIM:193900"} [Term] id: MONDO:0008677 @@ -181352,7 +181006,6 @@ xref: Orphanet:654 {source="OMIM:194071"} xref: UMLS:C3887743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854562"} is_a: MONDO:0003321 {source="MESH:C536853", source="MONDO:Redundant", source="OMIM:194071"} ! hereditary Wilms tumor is_a: MONDO:0019004 {source="DC-OMIM:194071"} ! kidney Wilms tumor -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4713 {source="MONDO:mim2gene_medgen"} ! H19 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8559/familial-wilms-tumor-2" xsd:anyURI {source="GARD:0008559"} @@ -181476,7 +181129,6 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: disease_has_feature HP:0000037 ! Male pseudohermaphroditism relationship: disease_has_feature HP:0001967 ! Diffuse mesangial sclerosis relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:194080"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12796 {source="MONDO:mim2gene_medgen"} ! WT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI @@ -181600,7 +181252,6 @@ xref: UMLS:C0043202 {source="MEDGEN:12162", source="MONDO:equivalentTo", source= is_a: MONDO:0000992 {source="DOID:384"} ! heart conduction disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0800484 {source="PMID:29298659", source="https://orcid.org/0009-0007-0138-2054", source="https://www.clinicalgenome.org/affiliation/40104/"} ! PRKAG2-related cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 {source="MONDO:mim2gene_medgen"} ! PRKAG2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6446" xsd:anyURI property_value: IAO:0000589 "Wolff-Parkinson-white syndrome (disease)" xsd:string @@ -181711,7 +181362,6 @@ xref: Orphanet:3202 {source="OMIM:194380"} xref: UMLS:C4551512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638271"} is_a: MONDO:0017910 {source="DC-OMIM:194380", source="DOID:0111576"} ! dehydrated hereditary stomatocytosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008689 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28993 {source="MONDO:mim2gene_medgen"} ! PIEZO1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10676/dehydrated-hereditary-stomatocytosis-pseudohyperkalemia-and-perinatal-edema" xsd:anyURI {source="GARD:0010676"} [Term] @@ -181787,7 +181437,7 @@ is_a: MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:14", source="Orp is_a: MONDO:0017774 {source="MESH:D000012", source="Orphanet:14"} ! hypobetalipoproteinemia is_a: MONDO:0020044 {source="Orphanet:14"} ! autosomal recessive metabolic cerebellar ataxia is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7467 {source="MONDO:mim2gene_medgen"} ! MTTP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7467 {source="OMIM:200100"} [Term] id: MONDO:0008693 @@ -181817,7 +181467,6 @@ xref: SCTID:718575002 {source="MONDO:equivalentTo"} xref: UMLS:C1860224 {source="MEDGEN:395439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="DOID:0060550", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:920"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20670 {source="MONDO:mim2gene_medgen"} ! TWIST2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI [Term] @@ -181888,7 +181537,7 @@ is_a: MONDO:0016987 {source="DOID:0050766", source="Orphanet:2388"} ! neuroacant is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy relationship: disease_has_feature HP:0002072 ! Chorea -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1908 {source="MONDO:mim2gene_medgen"} ! VPS13A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1908 {source="OMIM:200150"} [Term] id: MONDO:0008696 @@ -182009,7 +181658,6 @@ xref: SCTID:177504007 {source="MONDO:equivalentTo"} xref: UMLS:C0265559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120547"} is_a: MONDO:0005516 {source="DOID:0050603", source="Orphanet:931"} ! osteochondrodysplasia is_a: MONDO:0019713 {source="PMID:31633310", source="https://orcid.org/0000-0002-5002-8648"} ! non-syndromic limb reduction defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13243 {source="MONDO:mim2gene_medgen"} ! LMBR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -182043,7 +181691,6 @@ xref: UMLS:C0265273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019648 {source="DC-OMIM:200600", source="DOID:0080054", source="OMIM:200600", source="Orphanet:93299"} ! achondrogenesis is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia is_a: MONDO:1040009 {source="PMID:20089971", source="PMID:30728324"} ! TRIP11-related skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12305 {source="MONDO:mim2gene_medgen"} ! TRIP11 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -182083,7 +181730,6 @@ is_a: MONDO:0022800 {source="Orphanet:93296", source="PMID:31633310"} ! type 2 c relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008702 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0001789 ! Hydrops fetalis relationship: disease_has_feature HP:0011220 ! Prominent forehead -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -182127,7 +181773,6 @@ xref: UMLS:C0265260 {source="MEDGEN:75557", source="MONDO:equivalentTo", source= is_a: MONDO:0019648 {source="NCIT:C3816"} ! achondrogenesis is_a: MONDO:0019696 {source="DOID:0080052", source="OMIM:200700", source="Orphanet:2098", source="PMID:31633310"} ! acromesomelic dysplasia relationship: disease_has_feature HP:0002983 ! Micromelia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -182186,7 +181831,6 @@ xref: Orphanet:35121 {source="MONDO:equivalentTo", source="OMIM:200950"} xref: SCTID:57863006 {source="MONDO:equivalentTo"} xref: UMLS:C0268410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78674"} is_a: MONDO:0002561 {source="Orphanet:35121"} ! lysosomal storage disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/123 {source="MONDO:mim2gene_medgen"} ! ACP2 [Term] id: MONDO:0008706 @@ -182289,7 +181933,6 @@ is_a: MONDO:0800463 {source="PMID:21552264", source="PMID:230301500", source="ht relationship: disease_has_feature HP:0001274 ! Agenesis of corpus callosum relationship: disease_has_feature HP:0010442 ! Polydactyly relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:36", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30497 {source="MONDO:mim2gene_medgen"} ! KIF7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI @@ -182349,9 +181992,9 @@ xref: UMLS:C4551510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015338 {source="PMID:31633310"} ! syndromic craniosynostosis is_a: MONDO:0019012 {source="DC-OMIM:201000", source="MONDO:Redundant", source="OMIM:201000"} ! Carpenter syndrome intersection_of: MONDO:0019012 ! Carpenter syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14263 ! RAB23 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14263 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008710 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14263 {source="MONDO:mim2gene_medgen"} ! RAB23 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14263 {source="OMIM:201000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -182447,7 +182090,7 @@ is_a: MONDO:0017764 {source="Orphanet:37"} ! disorder of zinc metabolism relationship: disease_has_feature HP:0000534 {source="MONDO:Wikidata"} ! Abnormal eyebrow morphology relationship: excluded_subClassOf MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:37", source="Orphanet:37/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal disorder relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17129 {source="MONDO:mim2gene_medgen"} ! SLC39A4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17129 {source="OMIM:201100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica" xsd:anyURI {source="GARD:0005723"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6343/enteropathica" xsd:anyURI {source="GARD:0006343"} @@ -182571,7 +182214,6 @@ xref: OMIM:201250 {source="MONDO:equivalentTo", source="Orphanet:968", source="O xref: Orphanet:968 {source="OMIM:201250", source="MONDO:equivalentTo"} xref: UMLS:C2930970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419681"} is_a: MONDO:0019696 {source="DC-OMIM:201250", source="DOID:0080051", source="OMIM:201250", source="Orphanet:968"} ! acromesomelic dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -182651,7 +182293,7 @@ intersection_of: MONDO:0019824 ! non-acquired pituitary hormone deficiency intersection_of: disease_has_basis_in_disruption_of GO:0051458 ! corticotropin secretion intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11596 {source="MONDO:mim2gene_medgen"} ! TBX19 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11596 {source="OMIM:201400"} property_value: IAO:0000589 "congenital isolated adrenocorticotropic hormone deficiency (disease)" xsd:string [Term] @@ -182699,7 +182341,7 @@ is_a: MONDO:0017714 {source="Orphanet:42"} ! acyl-CoA dehydrogenase deficiency intersection_of: MONDO:0003847 ! hereditary disease intersection_of: disease_has_basis_in_disruption_of GO:0070991 ! medium-chain fatty acyl-CoA dehydrogenase activity relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008721 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/89 {source="MONDO:mim2gene_medgen"} ! ACADM +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/89 {source="OMIM:201450"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -182747,7 +182389,7 @@ is_a: MONDO:0017714 {source="Orphanet:26792"} ! acyl-CoA dehydrogenase deficienc intersection_of: MONDO:0003847 ! hereditary disease intersection_of: disease_has_basis_in_disruption_of GO:0016937 ! short-chain fatty acyl-CoA dehydrogenase activity relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008722 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/90 {source="MONDO:mim2gene_medgen"} ! ACADS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/90 {source="OMIM:201470"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4822/short-chain-acyl-coa-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0004822"} [Term] @@ -182791,7 +182433,7 @@ is_a: MONDO:0017713 ! disorder of fatty acid oxidation and ketogenesis intersection_of: MONDO:0003847 ! hereditary disease intersection_of: disease_has_basis_in_disruption_of GO:0017099 ! very-long-chain fatty acyl-CoA dehydrogenase activity relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008723 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/92 {source="MONDO:mim2gene_medgen"} ! ACADVL +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/92 {source="OMIM:201475"} [Term] id: MONDO:0008724 @@ -182843,7 +182485,7 @@ xref: UMLS:C0342474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0018479 {source="Orphanet:90790"} ! congenital adrenal hyperplasia is_a: MONDO:0019852 {source="Orphanet:90790"} ! inherited primary ovarian failure -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11359 {source="MONDO:mim2gene_medgen"} ! STAR +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11359 {source="OMIM:201710"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -182869,7 +182511,6 @@ intersection_of: MONDO:0008803 ! Antley-Bixler syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9208 ! POR relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008726 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:201750"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9208 {source="MONDO:mim2gene_medgen"} ! POR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -182913,7 +182554,7 @@ is_a: MONDO:0018479 {source="MESH:C538236", source="MONDO:Redundant", source="Or intersection_of: MONDO:0018479 ! congenital adrenal hyperplasia intersection_of: disease_has_basis_in_disruption_of GO:0102175 ! 3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5218 {source="MONDO:mim2gene_medgen"} ! HSD3B2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5218 {source="OMIM:201810"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI @@ -182957,7 +182598,6 @@ is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproduct is_a: MONDO:0018479 {source="Orphanet:90794"} ! congenital adrenal hyperplasia relationship: disease_has_basis_in_disruption_of GO:0004509 ! steroid 21-monooxygenase activity relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2600 {source="MONDO:mim2gene_medgen"} ! CYP21A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI @@ -183000,7 +182640,6 @@ xref: UMLS:C0268292 {source="MEDGEN:82783", source="MONDO:equivalentTo", source= is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder is_a: MONDO:0018479 {source="MESH:C535978", source="Orphanet:90795"} ! congenital adrenal hyperplasia relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2591 {source="MONDO:mim2gene_medgen"} ! CYP11B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI @@ -183042,7 +182681,6 @@ is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0018479 {source="Orphanet:90793", source="https://orcid.org/0000-0001-5208-3432"} ! congenital adrenal hyperplasia relationship: excluded_subClassOf MONDO:0019852 {source="Orphanet:90793", source="https://orcid.org/0000-0001-5208-3432"} ! inherited primary ovarian failure relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2593 {source="MONDO:mim2gene_medgen"} ! CYP17A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI @@ -183138,7 +182776,6 @@ xref: UMLS:C1859972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0006639 {source="MONDO:Redundant", source="Orphanet:1501/btnt"} ! adrenal cortex carcinoma intersection_of: MONDO:0006639 ! adrenal cortex carcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11998 {source="MONDO:mim2gene_medgen"} ! TP53 [Term] id: MONDO:0008735 @@ -183176,7 +182813,6 @@ xref: UMLS:C3550234 {source="MONDO:equivalentTo", source="MEDGEN:763148", source is_a: MONDO:0100262 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX5 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:202370", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9719 {source="MONDO:mim2gene_medgen"} ! PEX5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -183275,7 +182911,7 @@ xref: SCTID:48180002 {source="MONDO:equivalentTo"} xref: UMLS:C0265242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78541"} is_a: MONDO:0015159 {source="Orphanet:990"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:990", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9142 {source="MONDO:mim2gene_medgen"} ! PRRX1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9142 {source="OMIM:202650"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -183420,7 +183056,6 @@ is_a: MONDO:0040653 ! autosomal recessive ocular albinism intersection_of: MONDO:0018910 ! oculocutaneous albinism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12442 ! TYR relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12442 {source="MONDO:mim2gene_medgen"} ! TYR [Term] id: MONDO:0008746 @@ -183502,7 +183137,6 @@ xref: UMLS:C0342683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018910 {source="DC-OMIM:203290", source="DOID:0070097", source="MESH:C537731", source="MONDO:Redundant", source="OMIM:203290", source="Orphanet:79433"} ! oculocutaneous albinism intersection_of: MONDO:0018910 ! oculocutaneous albinism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12450 ! TYRP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12450 {source="MONDO:mim2gene_medgen"} ! TYRP1 [Term] id: MONDO:0008748 @@ -183531,9 +183165,9 @@ xref: UMLS:C2931875 {source="MEDGEN:419514", source="MONDO:equivalentTo", source is_a: MONDO:0016501 {source="Orphanet:231500/btnt"} ! Hermansky-Pudlak syndrome with pulmonary fibrosis is_a: MONDO:0019312 {source="DOID:0060539", source="MESH:C538539", source="MONDO:Redundant", source="NCIT:C150367", source="OMIM:203300"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5163 ! HPS1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5163 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008748 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5163 {source="MONDO:mim2gene_medgen"} ! HPS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5163 {source="OMIM:203300"} [Term] id: MONDO:0008749 @@ -183627,7 +183261,6 @@ xref: SCTID:47757001 {source="MONDO:equivalentTo"} xref: UMLS:C0268293 {source="MEDGEN:82784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018541 {source="https://orcid.org/0000-0001-5208-3432"} ! familial hypoaldosteronism relationship: disease_has_basis_in_disruption_of GO:0008202 ! steroid metabolic process -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2592 {source="MONDO:mim2gene_medgen"} ! CYP11B2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6813" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5660/18-hydroxylase-deficiency" xsd:anyURI {source="GARD:0005660"} @@ -183665,7 +183298,7 @@ xref: UMLS:C0270726 {source="MEDGEN:78724", source="MONDO:equivalentTo", source= is_a: MONDO:0005559 {source="Orphanet:58", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease is_a: MONDO:0019046 {source="DOID:4252", source="NCIT:C84545", source="Orphanet:58"} ! leukodystrophy is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:58", source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4235 {source="MONDO:mim2gene_medgen"} ! GFAP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4235 {source="OMIM:203450"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5774/alexander-disease" xsd:anyURI {source="GARD:0005774"} [Term] @@ -183718,7 +183351,7 @@ is_a: MONDO:0017307 {source="Orphanet:56", source="PMID:33340416"} ! disorder of relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008753 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder relationship: excluded_subClassOf MONDO:0020203 {source="Orphanet:56", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete pigmented conjunctival lesion -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4892 {source="MONDO:mim2gene_medgen"} ! HGD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4892 {source="OMIM:203500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria" xsd:anyURI {source="GARD:0005775"} @@ -183840,7 +183473,6 @@ xref: UMLS:C1859877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000005 {source="OMIM:203655"} ! alopecia, isolated intersection_of: MONDO:0000005 ! alopecia, isolated intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5172 ! HR -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5172 {source="MONDO:mim2gene_medgen"} ! HR [Term] id: MONDO:0008758 @@ -183904,7 +183536,6 @@ is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:726"} ! inherite is_a: MONDO:0100033 ! metabolic epilepsy is_a: MONDO:0100512 {source="Orphanet:726", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome, hepatocerebral form relationship: disease_has_feature HP:0007313 ! Cerebral degeneration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9179 {source="MONDO:mim2gene_medgen"} ! POLG [Term] id: MONDO:0008759 @@ -183937,7 +183568,7 @@ is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0016790 {source="Orphanet:31"} ! tricarboxylic acid cycle disorder is_a: MONDO:0020127 ! hereditary peripheral neuropathy is_a: MONDO:0100033 ! metabolic epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8124 {source="MONDO:mim2gene_medgen"} ! OGDH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8124 {source="OMIM:203740"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -183988,7 +183619,7 @@ is_a: MONDO:0019215 {source="Orphanet:134"} ! classic organic aciduria is_a: MONDO:0019229 {source="Orphanet:134"} ! inborn disorder of ketolysis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008760 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:203750", source="Orphanet:134"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/93 {source="MONDO:mim2gene_medgen"} ! ACAT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/93 {source="OMIM:203750"} [Term] id: MONDO:0008761 @@ -184080,7 +183711,7 @@ relationship: excluded_subClassOf MONDO:0015962 {source="Orphanet:64", source="h relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:64", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy relationship: excluded_subClassOf MONDO:0020240 {source="Orphanet:64", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic retinitis pigmentosa relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:203800", source="Orphanet:64"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/428 {source="MONDO:mim2gene_medgen"} ! ALMS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/428 {source="OMIM:203800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI [Term] @@ -184112,7 +183743,6 @@ is_a: MONDO:0100453 {source="https://clinicalgenome.org/affiliation/40072/"} ! G intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 ! GUCY2D relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 {source="MONDO:mim2gene_medgen"} ! GUCY2D property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -184142,7 +183772,6 @@ is_a: MONDO:0100368 {source="https://clinicalgenome.org/affiliation/40072/"} ! R intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10294 ! RPE65 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10294 {source="MONDO:mim2gene_medgen"} ! RPE65 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/636/leber-congenital-amaurosis-2" xsd:anyURI {source="GARD:0000636"} @@ -184209,8 +183838,8 @@ xref: UMLS:C0751383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016295 {source="DOID:0110731", source="MONDO:Redundant", source="NCIT:C61258", source="OMIM:204200", source="Orphanet:228346/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0019262 {source="Orphanet:228346"} ! juvenile neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2074 ! CLN3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2074 {source="MONDO:mim2gene_medgen"} ! CLN3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2074 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2074 {source="OMIM:204200"} [Term] id: MONDO:0008768 @@ -184244,7 +183873,6 @@ is_a: MONDO:0016295 {source="DOID:0110730", source="MONDO:Redundant", source="OM is_a: MONDO:0019260 {source="Orphanet:228340"} ! adult neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2077 ! CLN6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2077 {source="MONDO:mim2gene_medgen"} ! CLN6 [Term] id: MONDO:0008769 @@ -184288,7 +183916,6 @@ is_a: MONDO:0016295 {source="DOID:0110726", source="MONDO:Redundant", source="NC is_a: MONDO:0019262 {source="Orphanet:228349"} ! juvenile neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2073 ! TPP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2073 {source="MONDO:mim2gene_medgen"} ! TPP1 [Term] id: MONDO:0008770 @@ -184313,7 +183940,6 @@ xref: Orphanet:100031 {source="OMIM:204650"} xref: UMLS:C2673923 {source="MONDO:equivalentTo", source="MEDGEN:388763", source="MONDO:MEDGEN"} is_a: MONDO:0015047 {source="MONDO:Redundant", source="Orphanet:100031/btnt"} ! amelogenesis imperfecta type 1 is_a: MONDO:0019507 {source="DOID:0110056", source="MESH:C567147", source="MONDO:Redundant", source="OMIM:204650"} ! amelogenesis imperfecta -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3344 {source="MONDO:mim2gene_medgen"} ! ENAM [Term] id: MONDO:0008771 @@ -184363,10 +183989,10 @@ xref: UMLS:C2931783 {source="MONDO:equivalentTo", source="MEDGEN:419162", source is_a: MONDO:0019507 {source="DOID:0110066", source="MESH:C538241", source="MONDO:Redundant", source="OMIM:204690", source="Orphanet:171836"} ! amelogenesis imperfecta is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1031", source="Orphanet:1031/inferred"} ! disorder of development or morphogenesis intersection_of: MONDO:0019507 ! amelogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23015 ! FAM20A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23015 relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:1031", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021152 {source="OMIM:204690"} ! inherited -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23015 {source="MONDO:mim2gene_medgen"} ! FAM20A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23015 {source="OMIM:204690"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3537" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -184398,8 +184024,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110057", source="MESH:C538242", source="MESH:C567146", source="MONDO:Redundant", source="OMIM:204700"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6365 ! KLK4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6365 {source="MONDO:mim2gene_medgen"} ! KLK4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6365 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6365 {source="OMIM:204700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9495/amelogenesis-imperfecta-pigmented-hypomaturation-type" xsd:anyURI {source="GARD:0009495"} @@ -184442,7 +184068,6 @@ xref: UMLS:C1859817 {source="MEDGEN:395350", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="MESH:C565453/inferred"} ! hereditary disease is_a: MONDO:0017351 {source="Orphanet:79154"} ! inborn disorder of lysine and hydroxylysine metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008774 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23537 {source="MONDO:mim2gene_medgen"} ! DHTKD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3796" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -184511,7 +184136,7 @@ xref: UMLS:C0339273 {source="MEDGEN:90939", source="MONDO:equivalentTo", source= is_a: MONDO:0000763 {source="DOID:0060449"} ! epithelial and subepithelial corneal dystrophy is_a: MONDO:0004686 ! lattice corneal dystrophy is_a: MONDO:0020212 {source="Orphanet:98957"} ! superficial corneal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11530 {source="MONDO:mim2gene_medgen"} ! TACSTD2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11530 {source="OMIM:204870"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9647/amyloidosis-corneal" xsd:anyURI {source="GARD:0009647"} [Term] @@ -184570,7 +184195,6 @@ is_a: MONDO:0017593 {source="Orphanet:300605/btnt", source="https://rarediseases is_a: MONDO:0024237 {source="MONDO:Redundant", source="MONDO:indirect"} ! inherited neurodegenerative disorder intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/443 ! ALS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/443 {source="MONDO:mim2gene_medgen"} ! ALS2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9470/amyotrophic-lateral-sclerosis-type-2" xsd:anyURI {source="GARD:0009470"} [Term] @@ -184653,7 +184277,6 @@ xref: UMLS:C0039292 {source="MEDGEN:52644", source="MONDO:equivalentTo", source= is_a: MONDO:0001822 {source="DOID:1388", source="MESH:D013631/inferred"} ! hypolipoproteinemia is_a: MONDO:0017773 {source="MESH:D013631", source="Orphanet:31150"} ! hypoalphalipoproteinemia relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted", source="MONDO:0016134-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29 {source="MONDO:mim2gene_medgen"} ! ABCA1 [Term] id: MONDO:0008784 @@ -184684,7 +184307,7 @@ xref: Orphanet:260305 {source="OMIM:205950"} xref: UMLS:C4225425 {source="MEDGEN:899109", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015194 {source="DOID:0060065", source="MESH:C567145", source="MONDO:Redundant", source="OMIM:205950"} ! sideroblastic anemia relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:205950"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26054 {source="MONDO:mim2gene_medgen"} ! SLC25A38 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26054 {source="OMIM:205950"} [Term] id: MONDO:0008786 @@ -184737,7 +184360,7 @@ is_a: MONDO:0000104 {source="DC-OMIM:206100", source="OMIM:206100"} ! anemia, hy is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0017763 {source="Orphanet:83642"} ! disorder of iron metabolism and transport relationship: disease_arises_from_feature HP:0011031 ! Abnormality of iron homeostasis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10908 {source="MONDO:mim2gene_medgen"} ! SLC11A2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10908 {source="OMIM:206100"} [Term] id: MONDO:0008788 @@ -184768,7 +184391,7 @@ xref: UMLS:C0085576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0001245 ! microcytic anemia is_a: MONDO:0016624 ! inherited deficiency anemia relationship: disease_arises_from_feature HP:0011031 ! Abnormality of iron homeostasis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16517 {source="MONDO:mim2gene_medgen"} ! TMPRSS6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16517 {source="OMIM:206200"} [Term] id: MONDO:0008789 @@ -184821,7 +184444,7 @@ xref: UMLS:C5561928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000819 {source="OMIM:206500"} ! anencephaly is_a: MONDO:0015159 {source="Orphanet:1048"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1048", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16280 {source="MONDO:mim2gene_medgen", source="OMIM:206500"} ! TRIM36 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16280 {source="OMIM:206500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3684" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4616" xsd:anyURI @@ -185017,8 +184640,8 @@ xref: UMLS:C0265998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019211 {source="MONDO:Redundant", source="Orphanet:94150"} ! isolated congenital anonychia is_a: MONDO:0019284 {source="DC-OMIM:206800", source="OMIM:206800", source="Orphanet:94150/inferred"} ! inherited isolated nail anomaly intersection_of: MONDO:0019211 ! isolated congenital anonychia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16175 ! RSPO4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16175 {source="MONDO:mim2gene_medgen"} ! RSPO4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16175 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16175 {source="OMIM:206800"} [Term] id: MONDO:0008799 @@ -185094,7 +184717,7 @@ xref: UMLS:C0599973 {source="MEDGEN:154638", source="MONDO:equivalentTo", source is_a: MONDO:0006025 {source="DOID:0060861", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015160 {source="Orphanet:1106"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:206920", source="Orphanet:1106"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20318 {source="MONDO:mim2gene_medgen"} ! SMOC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20318 {source="OMIM:206920"} [Term] id: MONDO:0008801 @@ -185287,7 +184910,7 @@ xref: SCTID:33513003 {source="MONDO:equivalentTo"} xref: UMLS:C1720779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328375"} is_a: MONDO:0001336 {source="DC-OMIM:207750", source="MONDO:indirect"} ! familial hyperlipidemia is_a: MONDO:0018637 {source="DOID:0111418", source="Orphanet:309020"} ! familial chylomicronemia syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/609 {source="MONDO:mim2gene_medgen"} ! APOC2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/609 {source="OMIM:207750"} [Term] id: MONDO:0008811 @@ -185410,7 +185033,7 @@ xref: UMLS:C0268548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004739 {source="Orphanet:90"} ! urea cycle disorder is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008814 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/663 {source="MONDO:mim2gene_medgen"} ! ARG1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/663 {source="OMIM:207800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -185459,7 +185082,7 @@ is_a: MONDO:0004739 {source="Orphanet:23"} ! urea cycle disorder is_a: MONDO:0037871 {source="DOID:14755", source="https://github.com/monarch-initiative/mondo/issues/1492"} ! amino acid metabolism disease is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008815 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/746 {source="MONDO:mim2gene_medgen"} ! ASL +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/746 {source="OMIM:207900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria" xsd:anyURI {source="GARD:0005843"} @@ -185518,7 +185141,6 @@ xref: UMLS:C4551985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018870 {source="DC-OMIM:208000", source="MONDO:Redundant", source="OMIM:208000"} ! arterial calcification of infancy intersection_of: MONDO:0018870 ! arterial calcification of infancy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3356 ! ENPP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3356 {source="MONDO:mim2gene_medgen"} ! ENPP1 [Term] id: MONDO:0008818 @@ -185549,7 +185171,7 @@ xref: UMLS:C1859726 {source="MONDO:equivalentTo", source="MEDGEN:347942", source is_a: MONDO:0003900 {source="DOID:0050645"} ! connective tissue disorder is_a: MONDO:0005385 ! vascular disorder is_a: MONDO:0100237 {source="Orphanet:3342"} ! inherited cutis laxa -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13444 {source="MONDO:mim2gene_medgen"} ! SLC2A10 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13444 {source="OMIM:208050"} [Term] id: MONDO:0008819 @@ -185604,7 +185226,6 @@ is_a: MONDO:0017123 {source="DC-OMIM:208085", source="DOID:0111353", source="MON intersection_of: MONDO:0017123 ! arthrogryposis-renal dysfunction-cholestasis syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12712 ! VPS33B relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008822 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12712 {source="MONDO:mim2gene_medgen"} ! VPS33B [Term] id: MONDO:0008823 @@ -185634,7 +185255,8 @@ xref: SCTID:715316005 {source="MONDO:equivalentTo"} xref: UMLS:C5435650 {source="MEDGEN:1725686", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015168 {source="DOID:0090124", source="OMIM:208100", source="Orphanet:1143"} ! arthrogryposis multiplex congenita intersection_of: MONDO:0015168 ! arthrogryposis multiplex congenita -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29205 ! ERGIC1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29205 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29205 {source="OMIM:208100"} [Term] id: MONDO:0008824 @@ -185752,7 +185374,7 @@ xref: SCTID:254065005 {source="MONDO:equivalentTo"} xref: UMLS:C0432215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96581"} is_a: MONDO:0005516 {source="DOID:0090004"} ! osteochondrodysplasia is_a: MONDO:0016761 {source="Orphanet:1159"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12771 {source="MONDO:mim2gene_medgen"} ! CCN6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12771 {source="OMIM:208230"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -185797,7 +185419,7 @@ is_a: MONDO:0005554 {source="Orphanet:2848"} ! rheumatic disorder is_a: MONDO:0006025 {source="DOID:0090127", source="MONDO:Redundant"} ! autosomal recessive disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008828 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:208250"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9364 {source="MONDO:mim2gene_medgen"} ! PRG4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9364 {source="OMIM:208250"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome" xsd:anyURI {source="GARD:0000306"} [Term] @@ -185868,7 +185490,7 @@ is_a: MONDO:0019251 {source="Orphanet:93"} ! oligosaccharidosis is_a: MONDO:0800088 {source="Orphanet:93", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008830 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/318 {source="MONDO:mim2gene_medgen"} ! AGA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/318 {source="OMIM:208400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -185931,7 +185553,6 @@ xref: OMIM:208530 {source="MONDO:equivalentTo", source="Orphanet:97548", source= xref: Orphanet:97548 {source="MONDO:equivalentTo", source="DOID:0060856", source="OMIM:208530"} xref: UMLS:C3178806 {source="MEDGEN:465274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018677 {source="DOID:0060856", source="Orphanet:97548"} ! visceral heterotaxy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4214 {source="MONDO:mim2gene_medgen"} ! GDF1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000589 "right atrial isomerism (disease)" xsd:string @@ -185955,7 +185576,6 @@ xref: UMLS:C3715199 {source="MEDGEN:811626", source="MONDO:equivalentTo", source is_a: MONDO:0017417 {source="DC-OMIM:208540", source="MONDO:Redundant", source="OMIM:208540"} ! renal-hepatic-pancreatic dysplasia intersection_of: MONDO:0017417 ! renal-hepatic-pancreatic dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7907 ! NPHP3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7907 {source="MONDO:mim2gene_medgen"} ! NPHP3 [Term] id: MONDO:0008834 @@ -185969,6 +185589,7 @@ xref: MEDGEN:347198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:208550 {source="MONDO:equivalentTo"} xref: UMLS:C1859648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347198"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9594 {source="OMIM:208550"} [Term] id: MONDO:0008835 @@ -186090,7 +185711,6 @@ is_a: MONDO:0019852 {source="Orphanet:100"} ! inherited primary ovarian failure relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008840 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0019293 {source="Orphanet:100", source="https://orcid.org/0000-0001-5208-3432"} ! skin vascular disease relationship: excluded_subClassOf MONDO:0042983 {source="MESH:D001260", source="NCIT:C2887", source="Wikipedia:Phakomatosis", source="https://orcid.org/0000-0001-5208-3432"} ! neurocutaneous syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/795 {source="MONDO:mim2gene_medgen"} ! ATM property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia" xsd:anyURI {source="GARD:0005862"} @@ -186147,7 +185767,7 @@ xref: UMLS:C1859598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0011457 ! ataxia-telangiectasia-like disorder is_a: MONDO:0021190 {source="PMID:20687492"} ! DNA repair disease relationship: disease_has_feature MONDO:0018151 {source="Orphanet:1168-modified", source="PMID:17094036"} ! coenzyme Q10 deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15984 {source="MONDO:mim2gene_medgen"} ! APTX +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15984 {source="OMIM:208920"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5347" xsd:anyURI [Term] @@ -186228,7 +185848,7 @@ is_a: MONDO:0004689 {source="DOID:0050649", source="MESH:C538259"} ! inborn meta is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0017763 {source="Orphanet:1195"} ! disorder of iron metabolism and transport relationship: disease_arises_from_feature HP:0011031 ! Abnormality of iron homeostasis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11740 {source="MONDO:mim2gene_medgen"} ! TF +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11740 {source="OMIM:209300"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia" xsd:anyURI {source="GARD:0009595"} [Term] @@ -186254,7 +185874,6 @@ xref: Orphanet:86819 {source="OMIM:209500", source="MONDO:equivalentTo", source= xref: SCTID:715963002 {source="MONDO:equivalentTo"} xref: UMLS:C1859592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395299"} is_a: MONDO:0004907 {source="DOID:0060689", source="MESH:C565924", source="Orphanet:86819"} ! alopecia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5172 {source="MONDO:mim2gene_medgen"} ! HR [Term] id: MONDO:0008848 @@ -186383,7 +186002,6 @@ is_a: MONDO:0015161 {source="Orphanet:1231"} ! multiple congenital anomalies/dys is_a: MONDO:0019280 {source="MESH:C537908", source="Orphanet:1231"} ! hypertrichosis is_a: MONDO:0019287 {source="Orphanet:1231"} ! ectodermal dysplasia syndrome is_a: MONDO:0020159 {source="Orphanet:1231"} ! congenital entropion -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20670 {source="MONDO:mim2gene_medgen"} ! TWIST2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome" xsd:anyURI {source="GARD:0000819"} [Term] @@ -186506,7 +186124,6 @@ is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases intersection_of: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5439 ! IFNGR1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5439 {source="MONDO:mim2gene_medgen"} ! IFNGR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4472" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -186571,7 +186188,6 @@ is_a: MONDO:0006025 {source="DOID:0111580"} ! autosomal recessive disease is_a: MONDO:0800181 {source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/", source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! OPA1-related optic atrophy with or without extraocular features relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic HP:0000007 {source="DOID:0111580"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8140 {source="MONDO:mim2gene_medgen"} ! OPA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5475" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/849/behr-syndrome" xsd:anyURI {source="GARD:0000849"} @@ -186601,7 +186217,7 @@ xref: MESH:C565904 {source="MONDO:equivalentTo"} xref: OMIM:210100 {source="MONDO:equivalentTo"} xref: UMLS:C1859518 {source="MEDGEN:347169", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="MESH:C565904/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14412 {source="MONDO:mim2gene_medgen"} ! AGXT2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14412 {source="OMIM:210100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -186651,8 +186267,8 @@ is_a: MONDO:0004739 {source="MESH:C535308"} ! urea cycle disorder is_a: MONDO:0018950 {source="DOID:0080579", source="MONDO:Redundant", source="OMIM:210200", source="Orphanet:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency is_a: MONDO:0019052 {source="MESH:C535308/inferred"} ! inborn errors of metabolism intersection_of: MONDO:0018950 ! 3-methylcrotonyl-CoA carboxylase deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6936 ! MCCC1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6936 {source="MONDO:mim2gene_medgen"} ! MCCC1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6936 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6936 {source="OMIM:210200"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5665/3-methylcrotonyl-coa-carboxylase-1-deficiency" xsd:anyURI {source="GARD:0005665"} [Term] @@ -186683,8 +186299,8 @@ xref: Orphanet:6 {source="OMIM:210210"} xref: UMLS:C1859499 {source="MONDO:equivalentTo", source="MEDGEN:347898", source="MONDO:MEDGEN"} is_a: MONDO:0018950 {source="DOID:0080580", source="MONDO:Redundant", source="OMIM:210210", source="Orphanet:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency intersection_of: MONDO:0018950 ! 3-methylcrotonyl-CoA carboxylase deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6937 ! MCCC2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6937 {source="MONDO:mim2gene_medgen"} ! MCCC2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6937 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6937 {source="OMIM:210210"} [Term] id: MONDO:0008863 @@ -186783,7 +186399,7 @@ xref: UMLS:C1859486 {source="MEDGEN:347895", source="MONDO:equivalentTo", source is_a: MONDO:0004580 {source="DOID:0050664", source="MONDO:Redundant", source="MONDO:indirect"} ! retinal degeneration is_a: MONDO:0016420 {source="Orphanet:41751"} ! familial flecked retinopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008865 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23198 {source="MONDO:mim2gene_medgen"} ! CYP4V2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23198 {source="OMIM:210370"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy" xsd:anyURI {source="GARD:0010050"} [Term] @@ -186889,7 +186505,6 @@ is_a: MONDO:0019342 {source="DC-OMIM:210600", source="DOID:0070007", source="MON intersection_of: MONDO:0019342 ! Seckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/882 ! ATR relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:210600"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/882 {source="MONDO:mim2gene_medgen"} ! ATR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -186952,7 +186567,6 @@ is_a: MONDO:0100558 {source="https://clinicalgenome.org/affiliation/40065/"} ! R is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder intersection_of: MONDO:0000060 ! microcephalic osteodysplastic primordial dwarfism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34016 ! RNU4ATAC -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34016 {source="MONDO:mim2gene_medgen"} ! RNU4ATAC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7497" xsd:anyURI @@ -186991,7 +186605,7 @@ xref: UMLS:C0432246 {source="MEDGEN:96587", source="MONDO:equivalentTo", source= is_a: MONDO:0000060 {source="DC-OMIM:210720"} ! microcephalic osteodysplastic primordial dwarfism is_a: MONDO:0005516 {source="DOID:0060609", source="MESH:C565898"} ! osteochondrodysplasia is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16068 {source="MONDO:mim2gene_medgen"} ! PCNT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16068 {source="OMIM:210720"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-2" xsd:anyURI {source="GARD:0009844"} @@ -187119,7 +186733,7 @@ is_a: MONDO:0020629 {source="OMIM:210900"} ! microcephaly, growth restriction an is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:125", source="Orphanet:125/inferred"} ! disorder of development or morphogenesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008876 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:210900", source="Orphanet:125"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1058 {source="MONDO:mim2gene_medgen"} ! BLM +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1058 {source="OMIM:210900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome" xsd:anyURI {source="GARD:0000915"} @@ -187215,7 +186829,7 @@ is_a: MONDO:0006025 {source="DOID:0050684", source="MONDO:Redundant"} ! autosoma is_a: MONDO:0015159 {source="Orphanet:1270"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1270", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:211180", source="Orphanet:1270"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16912 {source="MONDO:mim2gene_medgen"} ! EMG1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16912 {source="OMIM:211180"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5950/bowen-conradi-syndrome" xsd:anyURI {source="GARD:0005950"} @@ -187572,7 +187186,6 @@ xref: Orphanet:172 {source="OMIM:211600"} xref: Orphanet:79306 {source="GARD:0009802", source="MONDO:equivalentTo", source="OMIM:211600"} xref: UMLS:C4551898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645830"} is_a: MONDO:0015762 {source="DOID:0070226", source="OMIM:211600", source="Orphanet:79306"} ! progressive familial intrahepatic cholestasis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3706 {source="MONDO:mim2gene_medgen"} ! ATP8B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -187608,7 +187221,7 @@ is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal is_a: MONDO:0015159 {source="Orphanet:1308"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015338 {source="Orphanet:1308"} ! syndromic craniosynostosis relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1308", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16892 {source="MONDO:mim2gene_medgen"} ! CD96 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16892 {source="OMIM:211750"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5978/c-syndrome" xsd:anyURI {source="GARD:0005978"} @@ -187664,7 +187277,7 @@ xref: Orphanet:289601 {source="MONDO:equivalentTo", source="OMIM:211800"} xref: SCTID:718602007 {source="MONDO:equivalentTo"} xref: UMLS:C1859372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347132"} is_a: MONDO:0005385 {source="Orphanet:289601"} ! vascular disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8021 {source="MONDO:mim2gene_medgen"} ! NT5E +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8021 {source="OMIM:211800"} [Term] id: MONDO:0008896 @@ -187932,7 +187545,7 @@ xref: Orphanet:457088 {source="MONDO:equivalentTo"} xref: UMLS:C1859353 {source="MONDO:equivalentTo", source="MEDGEN:347128", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0015279 {source="OMIM:212050", source="https://orcid.org/0000-0001-5208-3432"} ! chronic mucocutaneous candidiasis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16391 {source="MONDO:mim2gene_medgen"} ! CARD9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16391 {source="OMIM:212050"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -187986,7 +187599,7 @@ is_a: MONDO:0015286 {source="MESH:C535739", source="MONDO:0008907/inferred", sou is_a: MONDO:0017740 {source="Orphanet:79318"} ! disorder of protein N-glycosylation relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9115 {source="MONDO:mim2gene_medgen"} ! PMM2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9115 {source="OMIM:212065"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI [Term] @@ -188034,7 +187647,7 @@ is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenita is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017740 {source="Orphanet:79329"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7045 {source="MONDO:mim2gene_medgen"} ! MGAT2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7045 {source="OMIM:212066"} [Term] id: MONDO:0008909 @@ -188066,7 +187679,7 @@ xref: OMIM:212070 {source="MONDO:equivalentTo"} xref: SCTID:234627009 {source="MONDO:equivalentTo"} xref: UMLS:C0398782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98312"} is_a: MONDO:0003847 {source="MESH:C562876/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2312 {source="MONDO:mim2gene_medgen"} ! CPN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2312 {source="OMIM:212070"} [Term] id: MONDO:0008911 @@ -188108,7 +187721,7 @@ xref: UMLS:C5774175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis is_a: MONDO:0031323 {source="OMIM:212093"} ! cardiac valvular defect relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9067 {source="MONDO:mim2gene_medgen"} ! PLD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9067 {source="OMIM:212093"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6139" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI @@ -188159,7 +187772,6 @@ is_a: MONDO:0005267 {source="GARD:0003373"} ! heart disorder relationship: disease_has_major_feature HP:0000815 {source="GARD:0003373", source="Orphanet:2229"} ! Hypergonadotropic hypogonadism relationship: disease_has_major_feature HP:0001644 {source="GARD:0003373", source="Orphanet:2229"} ! Dilated cardiomyopathy relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:2229", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA [Term] id: MONDO:0008916 @@ -188234,7 +187846,7 @@ is_a: MONDO:0017716 {source="Orphanet:159"} ! disorder of carnitine cycle and ca relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008918 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0005045 {source="https://orcid.org/0000-0001-5208-3432"} ! hypertrophic cardiomyopathy relationship: excluded_subClassOf MONDO:0005267 {source="https://orcid.org/0000-0001-5208-3432"} ! heart disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1421 {source="MONDO:mim2gene_medgen"} ! SLC25A20 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1421 {source="OMIM:212138"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1123/carnitine-acylcarnitine-translocase-deficiency" xsd:anyURI {source="GARD:0001123"} [Term] @@ -188289,7 +187901,7 @@ is_a: MONDO:0004736 {source="DOID:14365"} ! inborn disorder of amino acid metabo is_a: MONDO:0017713 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of fatty acid oxidation and ketogenesis is_a: MONDO:0017716 {source="Orphanet:158"} ! disorder of carnitine cycle and carnitine transport relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008919 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10969 {source="MONDO:mim2gene_medgen"} ! SLC22A5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10969 {source="OMIM:212140"} [Term] id: MONDO:0008920 @@ -188360,7 +187972,6 @@ is_a: MONDO:0016801 {source="Orphanet:1369"} ! mitochondrial substrate carrier d is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0018158 {source="DOID:0080132", source="OMIM:212350"} ! mitochondrial DNA depletion syndrome is_a: MONDO:0044970 {source="Orphanet:1369", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21869 {source="MONDO:mim2gene_medgen"} ! AGK property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1142/sengers-syndrome" xsd:anyURI {source="GARD:0001142"} [Term] @@ -188450,7 +188061,6 @@ is_a: MONDO:0005129 {source="DOID:0110243", source="MESH:C538286", source="MONDO is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21244 ! LEMD2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21244 {source="MONDO:mim2gene_medgen"} ! LEMD2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1150/cataract-hutterite-type" xsd:anyURI {source="GARD:0001150"} [Term] @@ -188506,7 +188116,7 @@ xref: Orphanet:435930 {source="MONDO:equivalentTo"} xref: UMLS:C4225424 {source="MEDGEN:894574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10892 {source="MONDO:mim2gene_medgen"} ! SIX6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10892 {source="OMIM:212550"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI @@ -188562,6 +188172,7 @@ xref: OMIM:212750 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:212750"} xref: UMLS:C1859310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395227"} is_a: MONDO:0020573 {source="OMIM:212750"} ! inherited disease susceptibility +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4942 {source="OMIM:212750"} relationship: predisposes_towards MONDO:0005130 ! celiac disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -188597,7 +188208,6 @@ xref: SCTID:720633009 {source="MONDO:equivalentTo"} xref: UMLS:C1859309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395226"} is_a: MONDO:0019054 {source="Orphanet:3258"} ! congenital limb malformation is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6696 {source="MONDO:mim2gene_medgen"} ! LRP4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -188676,7 +188286,7 @@ xref: UMLS:C1859305 {source="MEDGEN:349137", source="MONDO:equivalentTo", source is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/834", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism relationship: excluded_subClassOf MONDO:0100309 {source="Orphanet:1173", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary ataxia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21698 {source="MONDO:mim2gene_medgen"} ! RNF216 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21698 {source="OMIM:212840"} [Term] id: MONDO:0008936 @@ -188761,6 +188371,7 @@ xref: SCTID:16026008 {source="MONDO:equivalentTo"} xref: UMLS:C5231391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1695950"} is_a: MONDO:0002320 {source="NCIT:C98890"} ! congenital nervous system disorder is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15822 {source="OMIM:213000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI @@ -188841,8 +188452,8 @@ xref: SCTID:715369006 {source="MONDO:equivalentTo"} xref: UMLS:C1859298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349134"} is_a: MONDO:0020043 {source="MONDO:Redundant", source="Orphanet:1170"} ! autosomal recessive congenital cerebellar ataxia intersection_of: MONDO:0020043 ! autosomal recessive congenital cerebellar ataxia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18667 ! PMPCA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18667 {source="MONDO:mim2gene_medgen"} ! PMPCA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18667 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18667 {source="OMIM:213200"} [Term] id: MONDO:0008944 @@ -188874,7 +188485,6 @@ is_a: MONDO:0018772 {source="DC-OMIM:213300", source="DOID:0110980", source="MON intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21474 ! INPP5E relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008944 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21474 {source="MONDO:mim2gene_medgen"} ! INPP5E [Term] id: MONDO:0008945 @@ -189008,7 +188618,7 @@ is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral n is_a: MONDO:0020143 {source="Orphanet:909"} ! cerebral lipidosis with dementia relationship: disease_has_basis_in_disruption_of GO:0006699 ! bile acid biosynthetic process relationship: disease_has_basis_in_disruption_of GO:0006707 ! cholesterol catabolic process -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2605 {source="MONDO:mim2gene_medgen"} ! CYP27A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2605 {source="OMIM:213700"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis" xsd:anyURI {source="GARD:0005622"} [Term] @@ -189077,7 +188687,6 @@ xref: UMLS:C4721541 {source="MEDGEN:1648474", source="MONDO:equivalentTo", sourc is_a: MONDO:0100259 {source="DC-OMIM:214100", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX1 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0008953/inferred", source="MONDO:Redundant", source="OMIM:214100", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8850 {source="MONDO:mim2gene_medgen"} ! PEX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -189099,7 +188708,6 @@ xref: UMLS:C3550273 {source="MEDGEN:763187", source="MONDO:equivalentTo", source is_a: MONDO:0100262 {source="DC-OMIM:214110", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX5 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0008954/inferred", source="MONDO:Redundant", source="OMIM:214110", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9719 {source="MONDO:mim2gene_medgen"} ! PEX5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -189128,7 +188736,6 @@ is_a: MONDO:0008926 {source="DC-OMIM:214150", source="DOID:0080911", source="MON intersection_of: MONDO:0008926 ! COFS syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 ! ERCC6 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:214150"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 {source="MONDO:mim2gene_medgen"} ! ERCC6 [Term] id: MONDO:0008956 @@ -189173,7 +188780,7 @@ xref: OMIM:214300 {source="MONDO:equivalentTo"} xref: Orphanet:2345 {source="OMIM:214300"} xref: UMLS:C1859209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395201"} is_a: MONDO:0001029 {source="DOID:0080590", source="MESH:C536888", source="MONDO:Redundant", source="OMIM:214300"} ! Klippel-Feil syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7013 {source="MONDO:mim2gene_medgen"} ! MEOX1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7013 {source="OMIM:214300"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -189266,7 +188873,6 @@ is_a: MONDO:0015626 {source="DOID:0110185/inferred", source="MESH:C535419", sour is_a: MONDO:0018995 {source="DOID:0110185", source="MONDO:Redundant", source="Orphanet:99948"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15968 ! GDAP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15968 {source="MONDO:mim2gene_medgen"} ! GDAP1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1252/charcot-marie-tooth-disease-type-4a" xsd:anyURI {source="GARD:0001252"} [Term] @@ -189306,9 +188912,9 @@ xref: UMLS:C1859194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder is_a: MONDO:0018306 {source="DC-OMIM:214450", source="DOID:0060832", source="MONDO:Redundant", source="OMIM:214450", source="Orphanet:79476"} ! Griscelli syndrome intersection_of: MONDO:0018306 ! Griscelli syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7602 ! MYO5A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7602 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008962 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7602 {source="MONDO:mim2gene_medgen"} ! MYO5A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7602 {source="OMIM:214450"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2566/griscelli-syndrome-type-1" xsd:anyURI {source="GARD:0002566"} @@ -189363,7 +188969,7 @@ is_a: MONDO:0017739 {source="Orphanet:167"} ! disorder of lysosomal-related orga is_a: MONDO:0020127 {source="MONDO:0016132-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:167"} ! inherited neurodegenerative disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008963 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1968 {source="MONDO:mim2gene_medgen"} ! LYST +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1968 {source="OMIM:214500"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome" xsd:anyURI {source="GARD:0006035"} [Term] @@ -189409,9 +189015,9 @@ xref: UMLS:C0267662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000249 {source="DOID:0060296"} ! secretory diarrhea is_a: MONDO:0000824 {source="DC-OMIM:214700", source="OMIM:214700"} ! congenital diarrhea intersection_of: MONDO:0000249 ! secretory diarrhea -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3018 ! SLC26A3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3018 relationship: disease_has_basis_in_disruption_of GO:0015108 ! chloride transmembrane transporter activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3018 {source="MONDO:mim2gene_medgen"} ! SLC26A3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3018 {source="OMIM:214700"} [Term] id: MONDO:0008965 @@ -189540,7 +189146,6 @@ is_a: MONDO:0013681 {source="https://www.clinicalgenome.org/affiliation/40049/"} is_a: MONDO:0018841 {source="DC-OMIM:214950", source="DOID:0111068", source="OMIM:214950", source="Orphanet:79095"} ! congenital bile acid synthesis defect relationship: excluded_subClassOf MONDO:0017753 {source="Orphanet:79095", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/451 {source="MONDO:mim2gene_medgen"} ! AMACR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1196" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -189601,7 +189206,6 @@ xref: Orphanet:50945 {source="DOID:0060387", source="OMIM:215045", source="MONDO xref: UMLS:C1859148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395189"} is_a: MONDO:0005516 {source="DOID:0060387", source="MESH:C537914", source="MESH:C537914/inferred", source="NCIT:C131420"} ! osteochondrodysplasia is_a: MONDO:0019702 {source="Orphanet:50945", source="PMID:31633310"} ! neonatal osteosclerotic dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9608 {source="MONDO:mim2gene_medgen"} ! PTH1R property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type" xsd:anyURI {source="GARD:0000914"} @@ -189656,7 +189260,6 @@ is_a: MONDO:0019701 {source="PMID:31633310"} ! chondrodysplasia punctata is_a: MONDO:0100272 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX7 defect intersection_of: MONDO:0015776 ! rhizomelic chondrodysplasia punctata intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8860 ! PEX7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8860 {source="MONDO:mim2gene_medgen"} ! PEX7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1" xsd:anyURI {source="GARD:0006049"} @@ -189723,7 +189326,6 @@ xref: UMLS:C2931048 {source="MONDO:equivalentTo", source="MEDGEN:418969", source is_a: MONDO:0019240 {source="Orphanet:1426"} ! sterol biosynthesis disorder is_a: MONDO:0019701 {source="Orphanet:1426", source="PMID:31633310"} ! chondrodysplasia punctata is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6518 {source="MONDO:mim2gene_medgen"} ! LBR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8754/greenberg-dysplasia" xsd:anyURI {source="GARD:0008754"} @@ -189817,7 +189419,6 @@ intersection_of: MONDO:0005089 ! sarcoma intersection_of: disease_arises_from_structure CL:0000138 ! chondrocyte relationship: disease_arises_from_structure CL:0000138 {source="NCIT:C2946"} ! chondrocyte relationship: excluded_subClassOf MONDO:0021054 {source="Orphanet:55880", source="https://orcid.org/0000-0001-5208-3432"} ! bone sarcoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3512 {source="MONDO:mim2gene_medgen"} ! EXT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000589 "chondrosarcoma (disease)" xsd:string @@ -189908,7 +189509,6 @@ xref: SCTID:715984007 {source="MONDO:equivalentTo"} xref: UMLS:C1859093 {source="MEDGEN:347798", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0100309 {source="Orphanet:1180"} ! hereditary ataxia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16268 {source="MONDO:mim2gene_medgen"} ! PNPLA6 [Term] id: MONDO:0008981 @@ -190069,7 +189669,7 @@ xref: UMLS:C4721769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015991 {source="DC-OMIM:215700", source="DOID:0070340", source="NCIT:C150601", source="OMIM:215700", source="Orphanet:247525"} ! citrullinemia is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008988 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/758 {source="MONDO:mim2gene_medgen"} ! ASS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/758 {source="OMIM:215700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -190232,7 +189832,6 @@ xref: Orphanet:3472 {source="MONDO:equivalentTo", source="OMIM:216340"} xref: UMLS:C1857663 {source="MEDGEN:341818", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="DOID:0060589"} ! syndromic disease is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16873 {source="MONDO:mim2gene_medgen"} ! FIG4 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome" xsd:anyURI {source="GARD:0000331"} [Term] @@ -190320,7 +189919,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0015159 {source="Orphanet:193"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0008999 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2183 {source="MONDO:mim2gene_medgen"} ! VPS13B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2183 {source="OMIM:216550"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome" xsd:anyURI {source="GARD:0006126"} @@ -190381,7 +189980,7 @@ xref: OMIM:216820 {source="MONDO:equivalentTo"} xref: Orphanet:194 {source="OMIM:216820"} xref: UMLS:C4011974 {source="MEDGEN:860411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001476 {source="Orphanet:194/btnt"} ! coloboma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10526 {source="MONDO:mim2gene_medgen"} ! SALL2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10526 {source="OMIM:216820"} [Term] id: MONDO:0009003 @@ -190412,9 +190011,9 @@ xref: UMLS:C1857618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018852 {source="DC-OMIM:216900", source="DOID:0110007", source="MONDO:Redundant"} ! achromatopsia is_a: MONDO:0800102 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGA3-related retinopathy intersection_of: MONDO:0018852 ! achromatopsia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2150 ! CNGA3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2150 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2150 {source="MONDO:mim2gene_medgen"} ! CNGA3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2150 {source="OMIM:216900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9649/achromatopsia-2" xsd:anyURI {source="GARD:0009649"} @@ -190444,7 +190043,6 @@ xref: UMLS:C3150274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000015 {source="DC-OMIM:216950"} ! classic complement early component deficiency is_a: MONDO:0003832 {source="MONDO:Redundant", source="NCIT:C119991"} ! complement deficiency is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1246 {source="MONDO:mim2gene_medgen"} ! C1R [Term] id: MONDO:0009006 @@ -190471,7 +190069,6 @@ is_a: MONDO:0003832 {source="DOID:0060295", source="MONDO:Redundant", source="NC is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency intersection_of: MONDO:0003832 ! complement deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1248 ! C2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1248 {source="MONDO:mim2gene_medgen"} ! C2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency" xsd:anyURI {source="GARD:0001452"} [Term] @@ -190504,7 +190101,7 @@ xref: SCTID:707608003 {source="MONDO:equivalentTo"} xref: UMLS:C3495589 {source="MEDGEN:501210", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021147 {source="Orphanet:1873", source="Orphanet:1873/inferred"} ! disorder of development or morphogenesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009007 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/105 {source="MONDO:mim2gene_medgen"} ! CNNM4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/105 {source="OMIM:217080"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1463/cone-rod-dystrophy-amelogenesis-imperfecta" xsd:anyURI {source="GARD:0001463"} [Term] @@ -190533,7 +190130,6 @@ xref: Orphanet:1338 {source="MONDO:equivalentTo", source="OMIM:217085"} xref: UMLS:C1857587 {source="MEDGEN:341804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015161 {source="Orphanet:1338"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:1338", source="Orphanet:1338/inferred"} ! disorder of development or morphogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28027 {source="MONDO:mim2gene_medgen"} ! WDPCP [Term] id: MONDO:0009009 @@ -190574,7 +190170,6 @@ relationship: excluded_subClassOf MONDO:0002314 {source="https://orcid.org/0000- relationship: excluded_subClassOf MONDO:0005328 {source="MONDO:0015937-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder relationship: excluded_subClassOf MONDO:0006170 {source="MONDO:Entailed", source="Orphanet:97231", source="https://orcid.org/0000-0001-5208-3432"} ! conjunctival disorder relationship: has_characteristic PATO:0001863 ! chronic -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9071 {source="MONDO:mim2gene_medgen"} ! PLG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7100" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7224" xsd:anyURI @@ -190673,8 +190268,8 @@ xref: Orphanet:53691 {source="OMIM:217300"} xref: UMLS:C1857574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346616"} is_a: MONDO:0000733 {source="MONDO:Redundant", source="OMIM:217300"} ! cornea plana intersection_of: MONDO:0000733 ! cornea plana -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6309 ! KERA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6309 {source="MONDO:mim2gene_medgen"} ! KERA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6309 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6309 {source="OMIM:217300"} [Term] id: MONDO:0009015 @@ -190705,7 +190300,6 @@ xref: Orphanet:1490 {source="OMIM:217400", source="MONDO:equivalentTo"} xref: SCTID:720749004 {source="MONDO:equivalentTo"} xref: UMLS:C1857572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387858"} is_a: MONDO:0002254 {source="DOID:0111620", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16438 {source="MONDO:mim2gene_medgen"} ! SLC4A11 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -190806,7 +190400,6 @@ xref: Orphanet:293603 {source="MONDO:equivalentTo", source="OMIM:217700", source xref: UMLS:C1857569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387857"} is_a: MONDO:0000766 {source="DOID:0060649"} ! corneal endothelial dystrophy is_a: MONDO:0020214 {source="Orphanet:293603"} ! posterior corneal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16438 {source="MONDO:mim2gene_medgen"} ! SLC4A11 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1368" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6196/corneal-endothelial-dystrophy-type-2" xsd:anyURI {source="GARD:0006196"} @@ -190854,7 +190447,7 @@ xref: UMLS:C1636149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018102 {source="DOID:2565/inferred", source="MONDO:Redundant", source="NCIT:C34793", source="Orphanet:98969/inferred"} ! corneal dystrophy is_a: MONDO:0020213 {source="DOID:2565", source="Orphanet:98969"} ! stromal corneal dystrophy is_a: MONDO:0020242 ! hereditary macular dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6938 {source="MONDO:mim2gene_medgen"} ! CHST6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6938 {source="OMIM:217800"} [Term] id: MONDO:0009021 @@ -190983,7 +190576,7 @@ is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:320"} ! adrenal g is_a: MONDO:0005523 {source="DOID:4367", source="MESH:D043204"} ! steroid inherited metabolic disorder relationship: excluded_subClassOf MONDO:0006640 {source="DOID:0090121", source="https://orcid.org/0000-0001-5208-3432"} ! adrenal gland hyperfunction relationship: excluded_subClassOf MONDO:0015512 {source="Orphanet:320", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic hypertension -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5209 {source="MONDO:mim2gene_medgen"} ! HSD11B2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5209 {source="OMIM:218030"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4993" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess" xsd:anyURI {source="GARD:0000433"} @@ -191031,7 +190624,6 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3071", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0019292 {source="Orphanet:3071", source="Orphanet:3071/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete dermis elastic tissue disorder relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:218040", source="Orphanet:3071"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5173 {source="MONDO:mim2gene_medgen"} ! HRAS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI @@ -191196,7 +190788,7 @@ xref: UMLS:C1857512 {source="MEDGEN:347474", source="MONDO:equivalentTo", source is_a: MONDO:0015159 {source="Orphanet:1777"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1777", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29521 {source="MONDO:mim2gene_medgen"} ! C12orf57 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29521 {source="OMIM:218340"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5688/temtamy-syndrome" xsd:anyURI {source="GARD:0005688"} @@ -191348,7 +190940,6 @@ is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculosk is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0015338 {source="Orphanet:1225", source="PMID:31633310"} ! syndromic craniosynostosis is_a: MONDO:0015469 {source="PMID:20301383", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9949 {source="MONDO:mim2gene_medgen"} ! RECQL4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1602/baller-gerold-syndrome" xsd:anyURI {source="GARD:0001602"} @@ -191579,6 +191170,7 @@ xref: UMLS:C0010417 {source="MEDGEN:8192", source="MONDO:equivalentTo", source=" is_a: MONDO:0003150 {source="MESH:D003456/inferred", source="MONDO:Redundant", source="NCIT:C12326/inferred"} ! male reproductive system disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_location UBERON:0000079 {source="EFO:0000784"} ! male reproductive system +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6086 {source="OMIM:219050"} property_value: IAO:0000589 "cryptorchidism (disease)" xsd:string [Term] @@ -191673,6 +191265,7 @@ xref: UMLS:C0221406 {source="MEDGEN:66381", source="MONDO:equivalentTo", source= is_a: MONDO:0003429 {source="DOID:7004", source="Orphanet:96253"} ! functioning pituitary gland adenoma is_a: MONDO:0017824 {source="DOID:7004/inferred", source="MONDO:0009050/inferred", source="MONDO:Redundant", source="OMIM:219090", source="Orphanet:96253/inferred"} ! familial isolated pituitary adenoma is_a: MONDO:0020528 {source="Orphanet:96253"} ! ACTH-dependent Cushing syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12631 {source="OMIM:219090"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12867/acth-secreting-pituitary-adenoma" xsd:anyURI {source="GARD:0012867"} @@ -191721,7 +191314,6 @@ is_a: MONDO:0100237 {source="DOID:0070135/inferred", source="MESH:C562628", sour intersection_of: MONDO:0100237 ! inherited cutis laxa intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3327 ! ELN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3602 {source="MONDO:mim2gene_medgen"} ! FBLN5 [Term] id: MONDO:0009053 @@ -191759,7 +191351,6 @@ xref: UMLS:C5234852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017569 {source="DOID:0070132", source="Orphanet:35664"} ! de Barsy syndrome is_a: MONDO:0100126 {source="PMID:32017139", source="https://github.com/monarch-initiative/mondo/issues/1444"} ! P5CS deficiency is_a: MONDO:0100237 {source="DOID:0070132/inferred", source="MONDO:Redundant", source="OMIM:219150", source="Orphanet:35664/inferred"} ! inherited cutis laxa -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 {source="MONDO:mim2gene_medgen"} ! ALDH18A1 [Term] id: MONDO:0009054 @@ -191877,7 +191468,7 @@ xref: UMLS:C0220993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004736 {source="DOID:0090142", source="MONDO:indirect"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019222 {source="Orphanet:212"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009058 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2501 {source="MONDO:mim2gene_medgen"} ! CTH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2501 {source="OMIM:219500"} property_value: IAO:0000589 "cystathioninuria (disease)" xsd:string [Term] @@ -192000,7 +191591,6 @@ xref: Orphanet:443988 {source="MONDO:equivalentTo"} xref: UMLS:C1857423 {source="MEDGEN:346584", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:443988", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18688 {source="MONDO:mim2gene_medgen"} ! CRB2 [Term] id: MONDO:0009064 @@ -192031,7 +191621,6 @@ xref: UMLS:C2931013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0016239 {source="MESH:C535765", source="Orphanet:411641"} ! cystinosis is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2518 {source="MONDO:mim2gene_medgen"} ! CTNS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -192073,7 +191662,6 @@ is_a: MONDO:0100151 {source="EFO:0009049", source="MESH:C562683", source="Orphan intersection_of: MONDO:0100151 ! nephropathic cystinosis intersection_of: has_characteristic HP:0003621 ! Juvenile onset relationship: excluded_subClassOf MONDO:0019743 {source="EFO:0009049/inferred", source="Orphanet:411634", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2518 {source="MONDO:mim2gene_medgen"} ! CTNS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -192213,7 +191801,7 @@ xref: SCTID:718219002 {source="MONDO:equivalentTo"} xref: UMLS:C1857355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387801"} is_a: MONDO:0009723 {source="DC-OMIM:220111", source="MESH:C537004", source="Orphanet:70472"} ! Leigh syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15714 {source="MONDO:mim2gene_medgen"} ! LRPPRC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15714 {source="OMIM:220111"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -192245,7 +191833,7 @@ xref: UMLS:C0342765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005066 {source="DOID:0111626", source="GARD:0000234", source="https://www.clinicalgenome.org/affiliation/40049/"} ! metabolic disease is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism relationship: excluded_subClassOf MONDO:0017703 {source="Orphanet:941", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of glyoxylate metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24247 {source="MONDO:mim2gene_medgen"} ! GLYCTK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24247 {source="OMIM:220120"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -192346,7 +191934,6 @@ is_a: MONDO:0019078 {source="DC-OMIM:220210", source="DOID:0060571", source="MON intersection_of: MONDO:0019078 ! Ritscher-Schinzel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28984 ! WASHC5 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009073 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28984 {source="MONDO:mim2gene_medgen"} ! WASHC5 [Term] id: MONDO:0009074 @@ -192534,7 +192121,6 @@ is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation relationship: disease_has_major_feature HP:0100257 ! Ectrodactyly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2918 {source="MONDO:mim2gene_medgen"} ! DLX5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -192580,7 +192166,7 @@ xref: SCTID:720506002 {source="MONDO:equivalentTo"} xref: UMLS:C3806275 {source="MEDGEN:812605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="DOID:0111628", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009082 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23503 {source="MONDO:mim2gene_medgen"} ! SLITRK6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23503 {source="OMIM:221200"} [Term] id: MONDO:0009083 @@ -192771,7 +192357,7 @@ xref: UMLS:C3489787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005152 {source="MESH:C536710/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! hypopituitarism is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:221750"} ! combined pituitary hormone deficiencies, genetic form is_a: MONDO:0018762 {source="https://orcid.org/0000-0001-5208-3432"} ! non-acquired combined pituitary hormone deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6595 {source="MONDO:mim2gene_medgen"} ! LHX3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6595 {source="OMIM:221750"} [Term] id: MONDO:0009092 @@ -192921,6 +192507,7 @@ xref: UMLS:C1969783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019631 {source="DC-OMIM:221900", source="MONDO:Redundant", source="OMIM:221900"} ! persistent hyperplastic primary vitreous intersection_of: MONDO:0019631 ! persistent hyperplastic primary vitreous intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13907 {source="OMIM:221900"} [Term] id: MONDO:0009098 @@ -193008,7 +192595,6 @@ xref: UMLS:C4551693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018105 {source="DC-OMIM:222300", source="DOID:0110629", source="MONDO:Entailed", source="MONDO:Redundant"} ! Wolfram syndrome intersection_of: MONDO:0018105 ! Wolfram syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12762 ! WFS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12762 {source="MONDO:mim2gene_medgen"} ! WFS1 [Term] id: MONDO:0009102 @@ -193075,7 +192661,7 @@ is_a: MONDO:0006025 {source="DOID:0090144", source="MONDO:Redundant"} ! autosoma is_a: MONDO:0015160 {source="Orphanet:2143"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:2143", source="Orphanet:2143/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:222448", source="Orphanet:2143"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6694 {source="MONDO:mim2gene_medgen"} ! LRP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6694 {source="OMIM:222448"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1899/donnai-barrow-syndrome" xsd:anyURI {source="GARD:0001899"} [Term] @@ -193188,7 +192774,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditar is_a: MONDO:0005516 {source="DOID:14687"} ! osteochondrodysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009107 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018232 {source="Orphanet:628", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with micromelia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10994 {source="MONDO:mim2gene_medgen"} ! SLC26A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -193259,7 +192844,7 @@ xref: UMLS:C0268647 {source="MONDO:equivalentTo", source="MEDGEN:75704", source= is_a: MONDO:0004736 {source="DOID:0060439", source="MESH:C562687"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019216 {source="Orphanet:470", source="PMID:33340416"} ! inborn disorder of amino acid transport relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009109 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11065 {source="MONDO:mim2gene_medgen"} ! SLC7A7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11065 {source="OMIM:222700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1853/dibasic-aminoaciduria-2" xsd:anyURI {source="GARD:0001853"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance" xsd:anyURI {source="GARD:0003335"} @@ -193321,7 +192906,7 @@ xref: Orphanet:38874 {source="OMIM:222748", source="MONDO:equivalentTo"} xref: SCTID:238014002 {source="MONDO:equivalentTo"} xref: UMLS:C0342803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83353"} is_a: MONDO:0019238 {source="DOID:0111629", source="Orphanet:38874"} ! inborn disorder of pyrimidine metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3013 {source="MONDO:mim2gene_medgen"} ! DPYS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3013 {source="OMIM:222748"} [Term] id: MONDO:0009112 @@ -193362,9 +192947,9 @@ is_a: MONDO:0015776 {source="DC-OMIM:222765", source="DOID:0110852", source="MES is_a: MONDO:0019701 {source="PMID:31633310"} ! chondrodysplasia punctata is_a: MONDO:0100273 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! glyceronephosphate O-acyltransferase deficiency intersection_of: MONDO:0015776 ! rhizomelic chondrodysplasia punctata -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4416 ! GNPAT +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4416 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4416 {source="MONDO:mim2gene_medgen"} ! GNPAT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4416 {source="OMIM:222765"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9429/rhizomelic-chondrodysplasia-punctata-type-2" xsd:anyURI {source="GARD:0009429"} @@ -193397,7 +192982,7 @@ xref: UMLS:C1291620 {source="MEDGEN:489898", source="MONDO:equivalentTo", source is_a: MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted", source="MONDO:Redundant", source="NCIT:C131638", source="OMIM:222800", source="Orphanet:714/inferred"} ! inborn errors of metabolism is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1093 {source="MONDO:mim2gene_medgen"} ! BPGM +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1093 {source="OMIM:222800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -193452,11 +193037,11 @@ is_a: MONDO:0004905 ! intestinal disaccharidase deficiency is_a: MONDO:0017706 {source="Orphanet:35122", source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption is_a: MONDO:0019052 {source="MESH:C538139/inferred", source="MONDO:Redundant", source="NCIT:C128190", source="Orphanet:35122/inferred"} ! inborn errors of metabolism intersection_of: MONDO:0017706 ! disorder of carbohydrate transmembrane transport and absorption -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10856 ! SI +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10856 relationship: disease_has_basis_in_disruption_of GO:0005984 ! disaccharide metabolic process relationship: disease_has_location UBERON:0000160 ! intestine relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10856 {source="MONDO:mim2gene_medgen"} ! SI +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10856 {source="OMIM:222900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency" xsd:anyURI {source="https://github.com/monarch-initiative/mondo/issues/886"} @@ -193489,9 +193074,9 @@ xref: SCTID:5388008 {source="MONDO:equivalentTo"} xref: UMLS:C0268179 {source="MEDGEN:120617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017706 {source="Orphanet:53690", source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption intersection_of: MONDO:0017706 ! disorder of carbohydrate transmembrane transport and absorption -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6530 ! LCT +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6530 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6530 {source="MONDO:mim2gene_medgen"} ! LCT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6530 {source="OMIM:223000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12311/congenital-lactase-deficiency" xsd:anyURI {source="GARD:0012311"} @@ -193633,7 +193218,7 @@ xref: UMLS:C4746777 {source="MONDO:equivalentTo", source="MEDGEN:1648402", sourc is_a: MONDO:0015914 {source="Orphanet:230"} ! primary orthostatic hypotension is_a: MONDO:0017759 {source="Orphanet:230"} ! disorder of catecholamine synthesis is_a: MONDO:0021272 {source="OMIM:223360", source="Orphanet:230"} ! inherited orthostatic hypotension -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2689 {source="MONDO:mim2gene_medgen"} ! DBH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2689 {source="OMIM:223360"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency" xsd:anyURI {source="GARD:0001903"} @@ -193795,7 +193380,6 @@ xref: SCTID:82699004 {source="MONDO:equivalentTo"} xref: UMLS:C0265286 {source="MEDGEN:120527", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="NCIT:C124844"} ! syndromic disease is_a: MONDO:0016761 {source="DOID:0111167", source="Orphanet:239", source="PMID:31633310"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21317 {source="MONDO:mim2gene_medgen"} ! DYM property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -193846,7 +193430,6 @@ relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted relationship: excluded_subClassOf MONDO:0015914 {source="Orphanet:1764", source="https://orcid.org/0000-0001-5208-3432"} ! primary orthostatic hypotension relationship: excluded_subClassOf MONDO:0020194 {source="Orphanet:1764", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete congenital alacrima relationship: excluded_subClassOf MONDO:0021154 {source="Orphanet:1764", source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5959 {source="MONDO:mim2gene_medgen"} ! ELP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -193943,7 +193526,6 @@ xref: UMLS:C1306589 {source="MEDGEN:266296", source="MONDO:equivalentTo", source is_a: MONDO:0017749 {source="Orphanet:98873"} ! disorder of multiple glycosylation is_a: MONDO:0019403 {source="DC-OMIM:224100", source="DOID:0111401", source="OMIM:224100", source="Orphanet:98873"} ! congenital dyserythropoietic anemia relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10702 {source="MONDO:mim2gene_medgen"} ! SEC23B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -193967,7 +193549,7 @@ xref: UMLS:C5574667 {source="MEDGEN:1807106", source="MONDO:equivalentTo", sourc is_a: MONDO:0019403 {source="MONDO:Redundant", source="OMIM:224120"} ! congenital dyserythropoietic anemia is_a: MONDO:0020337 {source="DOID:0111398"} ! congenital dyserythropoietic anemia type 1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1713 {source="MONDO:mim2gene_medgen"} ! CDAN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1713 {source="OMIM:224120"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -194097,7 +193679,6 @@ is_a: MONDO:0005516 {source="DOID:0090032"} ! osteochondrodysplasia is_a: MONDO:0016151 ! qualitative or quantitative defects of perlecan is_a: MONDO:0016761 {source="Orphanet:1865"} ! spondyloepiphyseal dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009140 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5273 {source="MONDO:mim2gene_medgen"} ! HSPG2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2026/dyssegmental-dysplasia-silverman-handmaker-type" xsd:anyURI {source="GARD:0002026"} @@ -194134,8 +193715,8 @@ xref: UMLS:C1857093 {source="MEDGEN:346511", source="MONDO:equivalentTo", source is_a: MONDO:0015990 {source="Orphanet:99657"} ! focal, segmental or multifocal dystonia is_a: MONDO:0044807 {source="DOID:0090038", source="MESH:C538006/inferred", source="MONDO:Redundant", source="NCIT:C123415/inferred", source="OMIM:224500"} ! inherited dystonia intersection_of: MONDO:0044807 ! inherited dystonia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5144 ! HPCA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5144 {source="MONDO:mim2gene_medgen"} ! HPCA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5144 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5144 {source="OMIM:224500"} [Term] id: MONDO:0009142 @@ -194173,9 +193754,9 @@ xref: SCTID:703508009 {source="MONDO:equivalentTo"} xref: UMLS:C4552001 {source="MEDGEN:1641240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016817 {source="DC-OMIM:224690", source="DOID:0080512", source="MONDO:Redundant", source="OMIM:224690"} ! Meier-Gorlin syndrome intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8487 ! ORC1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8487 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:224690"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8487 {source="MONDO:mim2gene_medgen"} ! ORC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8487 {source="OMIM:224690"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -194257,7 +193838,6 @@ xref: UMLS:C1857069 {source="MEDGEN:347366", source="MONDO:equivalentTo", source is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="Orphanet:50944"} ! ectodermal dysplasia syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:224750", source="Orphanet:50944"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13829 {source="MONDO:mim2gene_medgen"} ! WNT10A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3293" xsd:anyURI [Term] @@ -194426,7 +194006,6 @@ is_a: MONDO:0000358 {source="DC-OMIM:225060", source="OMIM:225060"} ! orofacial is_a: MONDO:0006025 {source="DOID:0060773", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0019287 {source="MONDO:0009151/inferred", source="MONDO:Redundant", source="NCIT:C122656", source="Orphanet:320317", source="Orphanet:3253", source="Orphanet:3253/inferred"} ! ectodermal dysplasia syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:225060", source="Orphanet:3253"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9706 {source="MONDO:mim2gene_medgen"} ! NECTIN1 [Term] id: MONDO:0009152 @@ -194447,7 +194026,6 @@ xref: OMIM:225100 {source="DOID:0111149", source="MONDO:equivalentTo"} xref: Orphanet:1885 {source="OMIM:225100"} xref: UMLS:C3541474 {source="MEDGEN:762100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015998 {source="DC-OMIM:225100", source="DOID:0111149"} ! isolated ectopia lentis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19706 {source="MONDO:mim2gene_medgen"} ! ADAMTSL4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -194466,7 +194044,6 @@ xref: Orphanet:1885 {source="OMIM:225200"} xref: SCTID:419237004 {source="MONDO:equivalentTo"} xref: UMLS:C1644196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:301316"} is_a: MONDO:0015998 {source="Orphanet:1885/btnt"} ! isolated ectopia lentis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19706 {source="MONDO:mim2gene_medgen"} ! ADAMTSL4 [Term] id: MONDO:0009154 @@ -194497,7 +194074,6 @@ is_a: MONDO:0000045 {source="MONDO:Redundant", source="OMIM:225250"} ! hypothyro is_a: MONDO:0018612 {source="DOID:0070125", source="MESH:C567123", source="MONDO:indirect"} ! congenital hypothyroidism intersection_of: MONDO:0000045 ! hypothyroidism, congenital, nongoitrous intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 ! NKX2-5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 {source="MONDO:mim2gene_medgen"} ! NKX2-5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -194531,7 +194107,6 @@ is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019287 {source="DOID:0111649", source="MESH:C536190", source="Orphanet:1897"} ! ectodermal dysplasia syndrome is_a: MONDO:0020242 {source="Orphanet:1897"} ! hereditary macular dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009155 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1762 {source="MONDO:mim2gene_medgen"} ! CDH3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2078/eem-syndrome" xsd:anyURI {source="GARD:0002078"} @@ -194583,7 +194158,6 @@ xref: UMLS:C2749665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016576 {source="DOID:0090026", source="MONDO:Redundant", source="OMIM:225300"} ! split hand-foot malformation intersection_of: MONDO:0016576 ! split hand-foot malformation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12775 ! WNT10B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12775 {source="MONDO:mim2gene_medgen"} ! WNT10B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -194650,7 +194224,6 @@ xref: UMLS:C4303789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0020066 {source="DC-OMIM:225320", source="DOID:0080730", source="MESH:C536200", source="OMIM:225320", source="Orphanet:230851"} ! Ehlers-Danlos syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009159 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2198 {source="MONDO:mim2gene_medgen"} ! COL1A2 [Term] id: MONDO:0009160 @@ -194693,7 +194266,7 @@ xref: Orphanet:1901 {source="OMIM:225410", source="MONDO:equivalentTo"} xref: SCTID:55711009 {source="MONDO:equivalentTo"} xref: UMLS:C2700425 {source="MEDGEN:397792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020066 {source="DC-OMIM:225410", source="DOID:0080733", source="MESH:C567527", source="OMIM:225410", source="Orphanet:1901"} ! Ehlers-Danlos syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/218 {source="MONDO:mim2gene_medgen"} ! ADAMTS2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/218 {source="OMIM:225410"} [Term] id: MONDO:0009162 @@ -194790,7 +194363,6 @@ is_a: MONDO:0700256 {source="https://clinicalgenome.org/affiliation/40060/", sou intersection_of: MONDO:0018866 ! Aicardi-Goutieres syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12269 ! TREX1 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:225750"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12269 {source="MONDO:mim2gene_medgen"} ! TREX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI @@ -194822,7 +194394,6 @@ xref: Orphanet:166063 {source="MONDO:equivalentTo", source="OMIM:225753", source xref: SCTID:718608006 {source="MONDO:equivalentTo"} xref: UMLS:C1856974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:384027"} is_a: MONDO:0020135 {source="DC-OMIM:225753", source="DOID:0060273", source="OMIM:225753", source="Orphanet:166063"} ! pontocerebellar hypoplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27561 {source="MONDO:mim2gene_medgen"} ! TSEN54 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/343/pontocerebellar-hypoplasia-type-4" xsd:anyURI {source="GARD:0000343"} [Term] @@ -194885,7 +194456,7 @@ xref: Orphanet:221126 {source="OMIM:225790", source="MONDO:equivalentTo"} xref: SCTID:700242002 {source="MONDO:equivalentTo"} xref: UMLS:C1856972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:384026"} is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:221126", source="Orphanet:221126/inferred"} ! disorder of development or morphogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20105 {source="MONDO:mim2gene_medgen"} ! FLVCR2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20105 {source="OMIM:225790"} [Term] id: MONDO:0009169 @@ -194991,7 +194562,7 @@ xref: SCTID:190952002 {source="MONDO:equivalentTo"} xref: UMLS:C0268416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82802"} is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-5208-3432"} ! digestive system disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9490 {source="MONDO:mim2gene_medgen"} ! TMPRSS15 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9490 {source="OMIM:226200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -195025,7 +194596,6 @@ xref: SCTID:66972006 {source="DOID:10611"} xref: UMLS:C0033680 {source="MONDO:equivalentTo", source="MEDGEN:19522", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005020 {source="DOID:10611", source="MESH:D011504"} ! intestinal disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2665 {source="MONDO:mim2gene_medgen"} ! CD55 property_value: IAO:0000589 "protein-losing enteropathy (disease)" xsd:string [Term] @@ -195258,7 +194828,6 @@ is_a: MONDO:0002254 {source="DOID:0090017", source="https://orcid.org/0000-0002- is_a: MONDO:0015152 {source="Orphanet:257"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016198 {source="Orphanet:257"} ! qualitative or quantitative defects of plectin is_a: MONDO:0017610 {source="OMIM:226670", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="MONDO:mim2gene_medgen"} ! PLEC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2137/epidermolysa-bullosa-simplex-with-muscular-dystrophy" xsd:anyURI {source="GARD:0002137"} @@ -195384,7 +194953,7 @@ xref: SCTID:109478007 {source="MONDO:equivalentTo"} xref: UMLS:C0406740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98036"} is_a: MONDO:0019287 {source="Orphanet:1946"} ! ectodermal dysplasia syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009185 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29478 {source="MONDO:mim2gene_medgen"} ! ROGDI +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29478 {source="OMIM:226750"} [Term] id: MONDO:0009186 @@ -195488,7 +195057,6 @@ is_a: MONDO:0000226 {source="PMID:33340416", source="https://orcid.org/0000-0002 is_a: MONDO:0016648 {source="DC-OMIM:226900", source="DOID:0070300", source="MONDO:Redundant", source="OMIM:226900", source="Orphanet:93307"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10994 ! SLC26A2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10994 {source="MONDO:mim2gene_medgen"} ! SLC26A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6760" xsd:anyURI @@ -195570,7 +195138,7 @@ is_a: MONDO:0006025 {source="DOID:0090060", source="MONDO:Redundant"} ! autosoma is_a: MONDO:0016761 {source="Orphanet:1667", source="PMID:31633310"} ! spondyloepiphyseal dysplasia relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:1667", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:226980", source="Orphanet:1667"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3255 {source="MONDO:mim2gene_medgen"} ! EIF2AK3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3255 {source="OMIM:226980"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5589/epiphyseal-dysplasia-multiple-with-early-onset-diabetes-mellitus" xsd:anyURI {source="GARD:0005589"} @@ -195620,7 +195188,6 @@ xref: UMLS:C4016741 {source="MEDGEN:865178", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="OMIM:614894"} ! hereditary disease is_a: MONDO:0005108 {source="Orphanet:2566"} ! viral infectious disease relationship: disease_arises_from_feature MONDO:0005111 ! Epstein-Barr virus infection -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5358 {source="MONDO:mim2gene_medgen"} ! IRF8 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9534/chronic-active-epstein-barr-virus-infection" xsd:anyURI {source="GARD:0009534"} @@ -195814,7 +195381,6 @@ xref: Orphanet:398166 {source="OMIM:227260"} xref: SCTID:403771007 {source="MONDO:equivalentTo"} xref: UMLS:C1744559 {source="MEDGEN:315643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018363 {source="DC-OMIM:227260", source="OMIM:227260", source="Orphanet:1807"} ! focal facial dermal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20670 {source="MONDO:mim2gene_medgen"} ! TWIST2 [Term] id: MONDO:0009204 @@ -195896,9 +195462,9 @@ xref: SCTID:84048006 {source="MONDO:equivalentTo"} xref: UMLS:C4551981 {source="MEDGEN:1637212", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018175 {source="DC-OMIM:227300", source="MONDO:Redundant"} ! combined deficiency of factor V and factor VIII intersection_of: MONDO:0018175 ! combined deficiency of factor V and factor VIII -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6631 ! LMAN1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6631 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009206 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6631 {source="MONDO:mim2gene_medgen"} ! LMAN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6631 {source="OMIM:227300"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -196000,7 +195566,6 @@ intersection_of: MONDO:0020586 ! factor V deficiency intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009210 {source="MONDO:CLINGEN"} relationship: disease_arises_from_feature HP:0003225 ! Reduced coagulation factor V activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3542 {source="MONDO:mim2gene_medgen"} ! F5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2237/factor-v-deficiency" xsd:anyURI {source="GARD:0002237"} @@ -196037,7 +195602,6 @@ is_a: MONDO:0002244 {source="https://orcid.org/0000-0002-6601-2165"} ! factor VI is_a: MONDO:0015722 {source="Orphanet:327"} ! congenital vitamin K-dependent coagulation factors deficiency relationship: disease_arises_from_feature HP:0008169 ! Reduced factor VII activity relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3544 {source="MONDO:mim2gene_medgen"} ! F7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -196080,7 +195644,7 @@ is_a: MONDO:0015722 {source="Orphanet:328"} ! congenital vitamin K-dependent coa relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009212 {source="MONDO:CLINGEN"} relationship: disease_arises_from_feature HP:0008321 ! Reduced factor X activity relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3528 {source="MONDO:mim2gene_medgen"} ! F10 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3528 {source="OMIM:227600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -196111,7 +195675,7 @@ xref: OMIM:227645 {source="MONDO:equivalentTo", source="DOID:0111087"} xref: UMLS:C3468041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483324"} is_a: MONDO:0019391 {source="DC-OMIM:227645", source="DOID:0111087", source="NCIT:C125704", source="OMIM:227645"} ! Fanconi anemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009213 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3584 {source="MONDO:mim2gene_medgen"} ! FANCC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3584 {source="OMIM:227645"} [Term] id: MONDO:0009214 @@ -196139,7 +195703,7 @@ xref: OMIM:227646 {source="DOID:0111083", source="MONDO:equivalentTo"} xref: UMLS:C3160738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463627"} is_a: MONDO:0019391 {source="DC-OMIM:227646", source="DOID:0111083", source="NCIT:C125706", source="OMIM:227646"} ! Fanconi anemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009214 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3585 {source="MONDO:mim2gene_medgen"} ! FANCD2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3585 {source="OMIM:227646"} [Term] id: MONDO:0009215 @@ -196176,9 +195740,9 @@ xref: UMLS:C3469521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019391 {source="DC-OMIM:227650", source="DOID:0111095", source="EFO:0009044", source="MONDO:Redundant", source="NCIT:C125702", source="OMIM:227650"} ! Fanconi anemia is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0019391 ! Fanconi anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3582 ! FANCA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3582 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009215 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3582 {source="MONDO:mim2gene_medgen"} ! FANCA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3582 {source="OMIM:227650"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -196229,7 +195793,6 @@ relationship: excluded_subClassOf MONDO:0005066 {source="Orphanet:2088", source= relationship: excluded_subClassOf MONDO:0017706 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of carbohydrate transmembrane transport and absorption relationship: excluded_subClassOf MONDO:0019226 {source="Orphanet:2088", source="https://orcid.org/0000-0001-5208-3432"} ! glucose transport disorder relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:2088", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11006 {source="MONDO:mim2gene_medgen"} ! SLC2A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome" xsd:anyURI {source="GARD:0002268"} @@ -196284,7 +195847,6 @@ is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C84710"} ! inherited is_a: MONDO:0019255 {source="MESH:D055577", source="MONDO:0018299-obsoleted", source="Orphanet:333"} ! sphingolipidosis is_a: MONDO:0100524 {source="https://clinicalgenome.org/affiliation/40110/"} ! ASAH1-related sphingolipidosis relationship: excluded_subClassOf MONDO:0019296 {source="Orphanet:333", source="https://orcid.org/0000-0001-5208-3432"} ! subcutaneous tissue disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/735 {source="MONDO:mim2gene_medgen"} ! ASAH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5881" xsd:anyURI [Term] @@ -196421,8 +195983,8 @@ xref: UMLS:C0271582 {source="MEDGEN:82881", source="MONDO:equivalentTo", source= is_a: MONDO:0018555 {source="DOID:0090091", source="MONDO:Redundant", source="OMIM:228300"} ! hypogonadotropic hypogonadism is_a: MONDO:0019155 {source="Orphanet:325448"} ! Leydig cell hypoplasia intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6584 ! LHB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6584 {source="MONDO:mim2gene_medgen"} ! LHB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6584 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6584 {source="OMIM:228300"} [Term] id: MONDO:0009224 @@ -196479,7 +196041,6 @@ xref: UMLS:C3278138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016068 {source="DC-OMIM:228520", source="DOID:0080672", source="MONDO:Redundant", source="OMIM:228520"} ! fibrochondrogenesis intersection_of: MONDO:0016068 ! fibrochondrogenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 ! COL11A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 {source="MONDO:mim2gene_medgen"} ! COL11A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -196507,7 +196068,6 @@ xref: UMLS:C4551572 {source="MEDGEN:1632352", source="MONDO:equivalentTo", sourc is_a: MONDO:0016824 {source="DC-OMIM:228550", source="MESH:C562978", source="MONDO:Redundant", source="OMIM:228550"} ! infantile myofibromatosis intersection_of: MONDO:0016824 ! infantile myofibromatosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8804 ! PDGFRB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8804 {source="MONDO:mim2gene_medgen"} ! PDGFRB [Term] id: MONDO:0009228 @@ -196558,7 +196118,7 @@ xref: Orphanet:498474 {source="MONDO:equivalentTo"} xref: UMLS:C5574677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805033"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019707 {source="Orphanet:498474"} ! primary osteolysis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21732 {source="MONDO:mim2gene_medgen"} ! ANTXR2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21732 {source="OMIM:228600"} [Term] id: MONDO:0009230 @@ -196610,7 +196170,6 @@ is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019696 {source="DOID:0050790", source="OMIM:228900", source="Orphanet:2639", source="PMID:31633310"} ! acromesomelic dysplasia relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:228900", source="Orphanet:2639"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9879/fibular-hypoplasia-and-complex-brachydactyly" xsd:anyURI {source="GARD:0009879"} @@ -196643,7 +196202,6 @@ xref: UMLS:C1856728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019713 {source="PMID:31633310", source="https://orcid.org/0000-0002-5002-8648"} ! non-syndromic limb reduction defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12786 {source="MONDO:mim2gene_medgen"} ! WNT7A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2410/fuhrmann-syndrome" xsd:anyURI {source="GARD:0002410"} @@ -196716,7 +196274,6 @@ is_a: MONDO:0001531 {source="MESH:C537060", source="MONDO:Redundant", source="NC is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease is_a: MONDO:0002243 ! hemorrhagic disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009234 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6383 {source="MONDO:mim2gene_medgen"} ! KNG1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2684/high-molecular-weight-kininogen-deficiency" xsd:anyURI {source="GARD:0002684"} @@ -196742,7 +196299,7 @@ xref: OMIM:228980 {source="Orphanet:363989/e", source="MONDO:equivalentTo", sour xref: Orphanet:363989 {source="OMIM:228980", source="MONDO:equivalentTo"} xref: UMLS:C1856718 {source="MEDGEN:341605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019118 {source="Orphanet:363989"} ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9038 {source="MONDO:mim2gene_medgen"} ! PLA2G5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9038 {source="OMIM:228980"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -196824,7 +196381,7 @@ is_a: MONDO:0001700 ! megaloblastic anemia is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0017313 {source="Orphanet:90045"} ! disorder of folate metabolism and transport is_a: MONDO:0020598 {source="https://orcid.org/0000-0002-3458-4839"} ! malabsorption syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30521 {source="MONDO:mim2gene_medgen"} ! SLC46A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30521 {source="OMIM:229050"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12983/hereditary-folate-malabsorption" xsd:anyURI {source="GARD:0012983"} @@ -196858,8 +196415,8 @@ xref: SCTID:758664007 {source="MONDO:equivalentTo"} xref: UMLS:C5574957 {source="MEDGEN:1806136", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018555 {source="DOID:0090088", source="MONDO:Redundant", source="OMIM:229070"} ! hypogonadotropic hypogonadism intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3964 ! FSHB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3964 {source="MONDO:mim2gene_medgen"} ! FSHB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3964 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3964 {source="OMIM:229070"} [Term] id: MONDO:0009240 @@ -196895,7 +196452,7 @@ xref: UMLS:C0268609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0001700 ! megaloblastic anemia is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0017313 {source="Orphanet:51208"} ! disorder of folate metabolism and transport -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3974 {source="MONDO:mim2gene_medgen"} ! FTCD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3974 {source="OMIM:229100"} [Term] id: MONDO:0009241 @@ -197099,7 +196656,7 @@ relationship: excluded_subClassOf MONDO:0015178 {source="Orphanet:469", source=" relationship: excluded_subClassOf MONDO:0017706 {source="Orphanet:469", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of carbohydrate transmembrane transport and absorption relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:469", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021152 {source="Orphanet:469"} ! inherited -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/417 {source="MONDO:mim2gene_medgen"} ! ALDOB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/417 {source="OMIM:229600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -197144,7 +196701,7 @@ is_a: MONDO:0019225 {source="Orphanet:348", source="PMID:33340416"} ! disorder o relationship: disease_has_feature HP:0001942 ! Metabolic acidosis relationship: disease_has_feature HP:0001943 ! Hypoglycemia relationship: excluded_subClassOf MONDO:0017689 {source="Orphanet:348", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of fructose metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3606 {source="MONDO:mim2gene_medgen"} ! FBP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3606 {source="OMIM:229700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -197175,7 +196732,7 @@ xref: SCTID:40278002 {source="MONDO:equivalentTo"} xref: UMLS:C0268160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78645"} is_a: MONDO:0017689 {source="Orphanet:2056"} ! disorder of fructose metabolism is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6315 {source="MONDO:mim2gene_medgen"} ! KHK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6315 {source="OMIM:229800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -197251,7 +196808,7 @@ is_a: MONDO:0019251 {source="Orphanet:349"} ! oligosaccharidosis is_a: MONDO:0800088 {source="Orphanet:349", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009254 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4006 {source="MONDO:mim2gene_medgen"} ! FUCA1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4006 {source="OMIM:230000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6473/fucosidosis" xsd:anyURI {source="GARD:0006473"} @@ -197295,7 +196852,7 @@ xref: UMLS:C0268155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018116 {source="DOID:14695", source="NCIT:C114767", source="OMIM:230200", source="Orphanet:79237"} ! galactosemia is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009255 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4118 {source="MONDO:mim2gene_medgen"} ! GALK1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4118 {source="OMIM:230200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency" xsd:anyURI {source="GARD:0002422"} @@ -197349,7 +196906,6 @@ xref: UMLS:C0751161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005066 {source="Orphanet:79238", source="Orphanet:79238/inferred"} ! metabolic disease is_a: MONDO:0018116 {source="DOID:0111458", source="OMIM:230350", source="Orphanet:79238"} ! galactosemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009257 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4116 {source="MONDO:mim2gene_medgen"} ! GALE property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency" xsd:anyURI {source="GARD:0005392"} [Term] @@ -197389,7 +196945,7 @@ is_a: MONDO:0005066 {source="Orphanet:79239", source="Orphanet:79239/inferred"} is_a: MONDO:0018116 {source="DOID:0111459", source="OMIM:230400", source="Orphanet:79239"} ! galactosemia is_a: MONDO:0019852 {source="Orphanet:79239"} ! inherited primary ovarian failure is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4135 {source="MONDO:mim2gene_medgen"} ! GALT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4135 {source="OMIM:230400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5834" xsd:anyURI @@ -197424,7 +196980,6 @@ xref: UMLS:C1856603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0040566 {source="Orphanet:33574", source="PMID:33340416"} ! inherited glutathione metabolism disease intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0004357 ! glutamate-cysteine ligase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4311 {source="MONDO:mim2gene_medgen"} ! GCLC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -197472,7 +197027,6 @@ xref: UMLS:C0268271 {source="MEDGEN:75665", source="MONDO:equivalentTo", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease is_a: MONDO:0018149 {source="DC-OMIM:230500", source="DOID:0080502", source="Orphanet:79255"} ! GM1 gangliosidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4298 {source="MONDO:mim2gene_medgen"} ! GLB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6479/gm1-gangliosidosis-type-1" xsd:anyURI {source="GARD:0006479"} @@ -197512,7 +197066,6 @@ xref: Orphanet:79256 {source="MONDO:equivalentTo", source="OMIM:230600"} xref: SCTID:18756002 {source="MONDO:equivalentTo"} xref: UMLS:C0268272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120625"} is_a: MONDO:0018149 {source="DC-OMIM:230600", source="DOID:0080501", source="Orphanet:79256"} ! GM1 gangliosidosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4298 {source="MONDO:mim2gene_medgen"} ! GLB1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2" xsd:anyURI {source="GARD:0010126"} [Term] @@ -197551,7 +197104,6 @@ xref: Orphanet:79257 {source="MONDO:equivalentTo", source="OMIM:230650"} xref: SCTID:238027003 {source="MONDO:equivalentTo"} xref: UMLS:C0268273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78655"} is_a: MONDO:0018149 {source="DC-OMIM:230650", source="DOID:0080489", source="Orphanet:79257"} ! GM1 gangliosidosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4298 {source="MONDO:mim2gene_medgen"} ! GLB1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2431/gm1-gangliosidosis-type-3" xsd:anyURI {source="GARD:0002431"} [Term] @@ -197582,7 +197134,6 @@ xref: UMLS:C0406723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015159 {source="Orphanet:2067"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019287 {source="Orphanet:2067"} ! ectodermal dysplasia syndrome relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2067", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21014 {source="MONDO:mim2gene_medgen"} ! ANTXR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/400/gapo-syndrome" xsd:anyURI {source="GARD:0000400"} @@ -197657,7 +197208,6 @@ is_a: MONDO:0018150 {source="DC-OMIM:230800", source="DOID:0110957", source="Orp is_a: MONDO:0018374 {source="MONDO:0018377-obsoleted"} ! secondary avascular necrosis is_a: MONDO:0020143 {source="Orphanet:77259"} ! cerebral lipidosis with dementia relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4177 {source="MONDO:mim2gene_medgen"} ! GBA1 [Term] id: MONDO:0009266 @@ -197696,7 +197246,6 @@ relationship: excluded_subClassOf MONDO:0002561 {source="DOID:0110958/inferred", relationship: excluded_subClassOf MONDO:0017014 {source="https://orcid.org/0000-0001-5208-3432"} ! interstitial lung disease specific to childhood relationship: excluded_subClassOf MONDO:0019255 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! sphingolipidosis relationship: excluded_subClassOf MONDO:0020143 {source="Orphanet:77260", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral lipidosis with dementia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4177 {source="MONDO:mim2gene_medgen"} ! GBA1 [Term] id: MONDO:0009267 @@ -197744,7 +197293,6 @@ relationship: excluded_subClassOf MONDO:0018374 {source="MONDO:0018377-obsoleted relationship: excluded_subClassOf MONDO:0018384 {source="MONDO:0018377-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete avascular necrosis of genetic origin relationship: excluded_subClassOf MONDO:0019255 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! sphingolipidosis relationship: excluded_subClassOf MONDO:0020143 {source="Orphanet:77261", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral lipidosis with dementia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4177 {source="MONDO:mim2gene_medgen"} ! GBA1 [Term] id: MONDO:0009268 @@ -197774,7 +197322,6 @@ xref: Orphanet:355 {source="OMIM:231005"} xref: SCTID:1156813002 {source="https://orcid.org/0009-0002-1597-2198", source="MONDO:equivalentTo"} xref: UMLS:C1856476 {source="MEDGEN:341563", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018150 {source="Orphanet:2072"} ! Gaucher disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4177 {source="MONDO:mim2gene_medgen"} ! GBA1 [Term] id: MONDO:0009269 @@ -197798,8 +197345,8 @@ xref: UMLS:C3278147 {source="MONDO:equivalentTo", source="MEDGEN:479777", source is_a: MONDO:0000127 {source="DC-OMIM:231050", source="DOID:0111725", source="MONDO:Redundant", source="OMIM:231050"} ! geleophysic dysplasia is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia intersection_of: MONDO:0000127 ! geleophysic dysplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14631 ! ADAMTSL2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14631 {source="MONDO:mim2gene_medgen"} ! ADAMTSL2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14631 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14631 {source="OMIM:231050"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -197860,7 +197407,7 @@ is_a: MONDO:0100237 {source="Orphanet:2078"} ! inherited cutis laxa is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. relationship: disease_has_feature HP:0004349 {source="Orphanet:2078"} ! Reduced bone mineral density relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2078", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25676 {source="MONDO:mim2gene_medgen"} ! GORAB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25676 {source="OMIM:231070"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/413/geroderma-osteodysplastica" xsd:anyURI {source="GARD:0000413"} @@ -197913,8 +197460,8 @@ xref: UMLS:C3463897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016785 {source="MONDO:Redundant", source="Orphanet:254688/btnt"} ! complete hydatidiform mole is_a: MONDO:0018944 {source="DC-OMIM:231090"} ! gestational trophoblastic neoplasm intersection_of: MONDO:0016785 ! complete hydatidiform mole -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22947 ! NLRP7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22947 {source="MONDO:mim2gene_medgen"} ! NLRP7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22947 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22947 {source="OMIM:231090"} [Term] id: MONDO:0009274 @@ -197949,7 +197496,7 @@ is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009274 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0011001 {source="Orphanet:1802"} ! Increased bone mineral density relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:1802", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11609 {source="MONDO:mim2gene_medgen"} ! TBXAS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11609 {source="OMIM:231095"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -198042,6 +197589,7 @@ xref: UMLS:C0005129 {source="MONDO:equivalentTo", source="MEDGEN:2212", source=" is_a: MONDO:0000009 {source="DC-OMIM:231200", source="MONDO:Redundant", source="OMIM:231200"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0002254 {source="NCIT:C84595"} ! syndromic disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009276 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4444 {source="OMIM:231200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -198078,7 +197626,6 @@ xref: UMLS:C1856439 {source="MEDGEN:383912", source="MONDO:equivalentTo", source is_a: MONDO:0020366 {source="NCIT:C148260/inferred"} ! congenital glaucoma is_a: MONDO:0800472 {source="PMID:23767995", source="PMID:24099281", source="PMID:9097971", source="https://clinicalgenome.org/affiliation/40077/"} ! CYP1B1-related glaucoma with or without anterior segment dysgenesis relationship: excluded_subClassOf MONDO:0006788 {source="DOID:11211", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hydrophthalmos -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2597 {source="MONDO:mim2gene_medgen"} ! CYP1B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6783" xsd:anyURI @@ -198148,7 +197695,7 @@ is_a: MONDO:0006025 {source="DOID:0050602", source="MONDO:Redundant"} ! autosoma is_a: MONDO:0015129 {source="Orphanet:869", source="Orphanet:869/inferred"} ! chronic primary adrenal insufficiency relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:231550", source="Orphanet:869"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13666 {source="MONDO:mim2gene_medgen"} ! AAAS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13666 {source="OMIM:231550"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/457/triple-a-syndrome" xsd:anyURI {source="GARD:0000457"} [Term] @@ -198206,7 +197753,7 @@ is_a: MONDO:0000129 {source="DC-OMIM:231670"} ! glutaric aciduria is_a: MONDO:0000688 {source="DOID:0111254", source="PMID:33340416"} ! inborn organic aciduria is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009281 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4189 {source="MONDO:mim2gene_medgen"} ! GCDH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4189 {source="OMIM:231670"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -198312,10 +197859,10 @@ xref: UMLS:C0342873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000129 {source="DC-OMIM:231690", source="MONDO:Redundant"} ! glutaric aciduria is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria intersection_of: MONDO:0000129 ! glutaric aciduria -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16001 ! SUGCT +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16001 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009283 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0017753 {source="Orphanet:35706", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16001 {source="MONDO:mim2gene_medgen"} ! SUGCT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16001 {source="OMIM:231690"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12469/glutaric-acidemia-type-iii" xsd:anyURI {source="GARD:0012469"} @@ -198344,7 +197891,6 @@ xref: Orphanet:32 {source="OMIM:231900"} xref: UMLS:C1856399 {source="MEDGEN:343541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017909 {source="DOID:0112252", source="Orphanet:289849"} ! inherited glutathione synthetase deficiency is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4624 {source="MONDO:mim2gene_medgen"} ! GSS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -198383,7 +197929,7 @@ is_a: MONDO:0019241 {source="Orphanet:33573"} ! inborn disorder of the gamma-glu is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0036374 ! glutathione hydrolase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4250 {source="MONDO:mim2gene_medgen"} ! GGT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4250 {source="OMIM:231950"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -198448,9 +197994,9 @@ xref: UMLS:C2919796 {source="MEDGEN:415885", source="MONDO:equivalentTo", source is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism is_a: MONDO:0002413 {source="DOID:2749", source="Orphanet:79258"} ! glycogen storage disease I intersection_of: MONDO:0002412 ! disorder of glycogen metabolism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4056 ! G6PC1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4056 relationship: disease_has_basis_in_disruption_of GO:0004346 ! glucose-6-phosphatase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4056 {source="MONDO:mim2gene_medgen"} ! G6PC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4056 {source="OMIM:232200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -198510,7 +198056,6 @@ is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism is_a: MONDO:0002413 {source="MESH:C562594", source="MONDO:Redundant", source="NCIT:C122661", source="Orphanet:79259"} ! glycogen storage disease I is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia relationship: disease_has_basis_in_disruption_of GO:0015152 ! glucose-6-phosphate transmembrane transporter activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4061 {source="MONDO:mim2gene_medgen"} ! SLC37A4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/430" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -198596,10 +198141,10 @@ is_a: MONDO:0002412 {source="DC-OMIM:232300", source="DOID:2752", source="DOID:2 is_a: MONDO:0016340 ! familial restrictive cardiomyopathy is_a: MONDO:0017738 {source="Orphanet:365"} ! lysosomal glycogen storage disease intersection_of: MONDO:0002412 ! disorder of glycogen metabolism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4065 ! GAA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4065 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009290 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4065 {source="MONDO:mim2gene_medgen"} ! GAA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4065 {source="OMIM:232300"} [Term] id: MONDO:0009291 @@ -198663,7 +198208,6 @@ is_a: MONDO:0002412 {source="DOID:2748", source="DOID:2748/inferred", source="MO intersection_of: MONDO:0002412 ! disorder of glycogen metabolism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/321 ! AGL relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009291 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/321 {source="MONDO:mim2gene_medgen"} ! AGL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -198738,7 +198282,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009292 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0016118 {source="Orphanet:367", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular glycogenosis relationship: excluded_subClassOf MONDO:0016333 {source="Orphanet:367", source="https://orcid.org/0000-0001-5208-3432"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4180 {source="MONDO:mim2gene_medgen"} ! GBE1 [Term] id: MONDO:0009293 @@ -198790,8 +198333,8 @@ xref: SCTID:55912009 {source="MONDO:equivalentTo", source="DOID:2746"} xref: UMLS:C0017924 {source="MEDGEN:5341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002412 {source="DC-OMIM:232600", source="DOID:2746", source="DOID:2746/inferred", source="MESH:D006012", source="MONDO:Redundant", source="NCIT:C84738", source="OMIM:232600", source="Orphanet:368", source="PMID:33340416"} ! disorder of glycogen metabolism intersection_of: MONDO:0002412 ! disorder of glycogen metabolism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9726 ! PYGM -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9726 {source="MONDO:mim2gene_medgen"} ! PYGM +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9726 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9726 {source="OMIM:232600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -198846,8 +198389,8 @@ xref: UMLS:C0017925 {source="MEDGEN:6643", source="MONDO:equivalentTo", source=" is_a: MONDO:0002412 {source="DC-OMIM:232700", source="DOID:2754", source="DOID:2754/inferred", source="MESH:D006013", source="MONDO:Redundant", source="NCIT:C126875", source="OMIM:232700", source="Orphanet:369", source="PMID:33340416"} ! disorder of glycogen metabolism is_a: MONDO:0005066 {source="Orphanet:369"} ! metabolic disease intersection_of: MONDO:0002412 ! disorder of glycogen metabolism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9725 ! PYGL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9725 {source="MONDO:mim2gene_medgen"} ! PYGL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9725 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9725 {source="OMIM:232700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -198905,8 +198448,8 @@ is_a: MONDO:0003664 ! hemolytic anemia is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder intersection_of: MONDO:0002412 ! disorder of glycogen metabolism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8877 ! PFKM -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8877 {source="MONDO:mim2gene_medgen"} ! PFKM +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8877 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8877 {source="OMIM:232800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -198966,7 +198509,7 @@ is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmem is_a: MONDO:0019226 {source="Orphanet:69076"} ! glucose transport disorder relationship: disease_has_feature HP:0003076 ! Glycosuria relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:69076", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11037 {source="MONDO:mim2gene_medgen"} ! SLC5A2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11037 {source="OMIM:233100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7548/renal-glycosuria" xsd:anyURI {source="GARD:0007548"} @@ -199044,7 +198587,6 @@ is_a: MONDO:0017312 {source="DC-OMIM:233400", source="MONDO:Redundant", source=" intersection_of: MONDO:0017312 ! Perrault syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5213 ! HSD17B4 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:233400"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5213 {source="MONDO:mim2gene_medgen"} ! HSD17B4 [Term] id: MONDO:0009301 @@ -199068,7 +198610,6 @@ xref: OMIM:233420 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:233420"} xref: UMLS:C1856273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383876"} is_a: MONDO:0010765 {source="DOID:0111774", source="MESH:C565537", source="OMIM:233420", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2865 {source="MONDO:mim2gene_medgen"} ! DHH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -199169,6 +198710,7 @@ xref: MESH:C565535 {source="MONDO:equivalentTo"} xref: OMIM:233600 {source="MONDO:equivalentTo"} xref: UMLS:C1856263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383874"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16931 {source="OMIM:233600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -199230,7 +198772,7 @@ xref: OMIM:233690 {source="MONDO:equivalentTo"} xref: Orphanet:379 {source="OMIM:233690"} xref: UMLS:C1856255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383872"} is_a: MONDO:0018305 {source="DC-OMIM:233690", source="DOID:0070193", source="MESH:C565533", source="OMIM:233690"} ! chronic granulomatous disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2577 {source="MONDO:mim2gene_medgen"} ! CYBA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2577 {source="OMIM:233690"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -199263,8 +198805,8 @@ xref: Orphanet:379 {source="OMIM:233700"} xref: UMLS:C1856251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341102"} is_a: MONDO:0018305 {source="DC-OMIM:233700", source="DOID:0070192", source="MESH:C565532", source="MONDO:Redundant", source="OMIM:233700"} ! chronic granulomatous disease intersection_of: MONDO:0018305 ! chronic granulomatous disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7660 ! NCF1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7660 {source="MONDO:mim2gene_medgen"} ! NCF1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7660 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7660 {source="OMIM:233700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -199295,8 +198837,8 @@ xref: Orphanet:379 {source="OMIM:233710"} xref: UMLS:C1856245 {source="MEDGEN:383869", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018305 {source="DC-OMIM:233710", source="DOID:0070191", source="MESH:C565531", source="MONDO:Redundant", source="OMIM:233710"} ! chronic granulomatous disease intersection_of: MONDO:0018305 ! chronic granulomatous disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7661 ! NCF2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7661 {source="MONDO:mim2gene_medgen"} ! NCF2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7661 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7661 {source="OMIM:233710"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -199418,7 +198960,6 @@ is_a: MONDO:0021181 {source="MESH:D005175", source="MONDO:0016633-obsoleted", so relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009315 {source="MONDO:CLINGEN"} relationship: disease_arises_from_feature HP:0004841 ! Reduced factor XII activity relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3530 {source="MONDO:mim2gene_medgen"} ! F12 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6558/factor-xii-deficiency" xsd:anyURI {source="GARD:0006558"} @@ -199530,7 +199071,7 @@ xref: UMLS:C0018523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016987 {source="Orphanet:157850"} ! neuroacanthocytosis is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0018307 {source="DC-OMIM:234200", source="DOID:3981", source="OMIM:234200", source="Orphanet:157850"} ! neurodegeneration with brain iron accumulation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15894 {source="MONDO:mim2gene_medgen"} ! PANK2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15894 {source="OMIM:234200"} [Term] id: MONDO:0009320 @@ -199643,7 +199184,7 @@ relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0019304-obsoleted relationship: excluded_subClassOf MONDO:0015951 {source="Orphanet:2116", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary photodermatosis relationship: excluded_subClassOf MONDO:0017687 {source="Orphanet:2116", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of neutral amino acid transport relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:2116", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27960 {source="MONDO:mim2gene_medgen"} ! SLC6A19 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27960 {source="OMIM:234500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease" xsd:anyURI {source="GARD:0006569"} @@ -199741,9 +199282,9 @@ xref: SCTID:233949008 {source="MONDO:equivalentTo"} xref: UMLS:C0340848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90956"} is_a: MONDO:0009937 {source="DOID:0081269", source="OMIM:234810"} ! pulmonary venoocclusive disease intersection_of: MONDO:0009937 ! pulmonary venoocclusive disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19687 ! EIF2AK4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19687 relationship: excluded_subClassOf MONDO:0018554 {source="Orphanet:199241", source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19687 {source="MONDO:mim2gene_medgen"} ! EIF2AK4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19687 {source="OMIM:234810"} [Term] id: MONDO:0009330 @@ -199909,8 +199450,8 @@ xref: Orphanet:2136 {source="OMIM:235510"} xref: UMLS:C4012050 {source="MONDO:equivalentTo", source="MEDGEN:860487", source="MONDO:MEDGEN"} is_a: MONDO:0016256 {source="DC-OMIM:235510", source="MONDO:Redundant", source="OMIM:235510"} ! Hennekam syndrome intersection_of: MONDO:0016256 ! Hennekam syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29426 ! CCBE1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29426 {source="MONDO:mim2gene_medgen"} ! CCBE1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29426 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29426 {source="OMIM:235510"} [Term] id: MONDO:0009338 @@ -199945,7 +199486,6 @@ is_a: MONDO:0003778 {source="PMID:20301448", source="https://orcid.org/0000-0001 is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder is_a: MONDO:0005154 {source="MONDO:Redundant", source="Orphanet:79124"} ! liver disorder is_a: MONDO:0019514 {source="MESH:C537257"} ! hepatic veno-occlusive disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5401 {source="MONDO:mim2gene_medgen"} ! SP110 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10083/hepatic-venoocclusive-disease-with-immunodeficiency" xsd:anyURI {source="GARD:0010083"} @@ -199980,9 +199520,9 @@ xref: Orphanet:79303 {source="MONDO:equivalentTo", source="OMIM:235555", source= xref: UMLS:C1856127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383840"} is_a: MONDO:0018841 {source="DC-OMIM:235555", source="DOID:0111069", source="MONDO:Redundant", source="OMIM:235555", source="Orphanet:79303"} ! congenital bile acid synthesis defect intersection_of: MONDO:0018841 ! congenital bile acid synthesis defect -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/388 ! AKR1D1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/388 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/388 {source="MONDO:mim2gene_medgen"} ! AKR1D1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/388 {source="OMIM:235555"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -200012,7 +199552,6 @@ xref: UMLS:C3150343 {source="MONDO:equivalentTo", source="MEDGEN:461693", source is_a: MONDO:0003664 {source="MESH:C562995", source="MONDO:Redundant", source="OMIM:235700"} ! hemolytic anemia is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4922 {source="MONDO:mim2gene_medgen"} ! HK1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3672/nonspherocytic-hemolytic-anemia-due-to-hexokinase-deficiency" xsd:anyURI {source="GARD:0003672"} @@ -200061,7 +199600,7 @@ is_a: MONDO:0002254 {source="DOID:0060485", source="MONDO:Redundant", source="NC is_a: MONDO:0015159 {source="Orphanet:2152"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015653 {source="Orphanet:2152"} ! monogenic epilepsy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009341 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14881 {source="MONDO:mim2gene_medgen"} ! ZEB2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14881 {source="OMIM:235730"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9673/mowat-wilson-syndrome" xsd:anyURI {source="GARD:0009673"} [Term] @@ -200167,7 +199706,7 @@ xref: SCTID:410058007 {source="MONDO:equivalentTo"} xref: UMLS:C0220992 {source="MEDGEN:113135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019228 {source="DOID:0060168", source="Orphanet:2157", source="PMID:33340416"} ! inborn disorder of histidine metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009345 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4806 {source="MONDO:mim2gene_medgen"} ! HAL +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4806 {source="OMIM:235800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6661/histidinemia" xsd:anyURI {source="GARD:0006661"} @@ -200242,6 +199781,7 @@ xref: Orphanet:391 {source="OMIM:236000", source="MONDO:equivalentTo"} xref: UMLS:C0019829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9283"} is_a: MONDO:0004952 {source="DC-OMIM:236000", source="NCIT:C7164", source="ONCOTREE:CHL", source="Orphanet:391"} ! Hodgkins lymphoma disjoint_from: MONDO:0044778 ! nodular lymphocyte predominant Hodgkin lymphoma +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28557 {source="OMIM:236000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -200359,7 +199899,6 @@ is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0015327 {source="MONDO:Redundant", source="Orphanet:394"} ! developmental anomaly of metabolic origin is_a: MONDO:0019222 {source="Orphanet:394"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009352 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1550 {source="MONDO:mim2gene_medgen"} ! CBS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6667/homocystinuria-due-to-cbs-deficiency" xsd:anyURI {source="GARD:0006667"} @@ -200399,7 +199938,6 @@ is_a: MONDO:0004737 {source="DC-OMIM:236250"} ! homocystinuria is_a: MONDO:0017313 {source="Orphanet:395"} ! disorder of folate metabolism and transport is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009353 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7436 {source="MONDO:mim2gene_medgen"} ! MTHFR [Term] id: MONDO:0009354 @@ -200438,7 +199976,6 @@ is_a: MONDO:0018964 {source="Orphanet:2169", source="https://orcid.org/0000-0002 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009354 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0002012 {source="DOID:0050732", source="https://orcid.org/0000-0001-5208-3432"} ! methylmalonic acidemia relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:236270", source="Orphanet:2169"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7473 {source="MONDO:mim2gene_medgen"} ! MTRR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -200524,7 +200061,7 @@ is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease is_a: MONDO:0006025 {source="DOID:0080327"} ! autosomal recessive disease is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:500135"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1161 {source="MONDO:mim2gene_medgen"} ! CEP55 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1161 {source="OMIM:236500"} [Term] id: MONDO:0009360 @@ -200549,7 +200086,6 @@ is_a: MONDO:0016349 {source="MONDO:Redundant", source="OMIM:236600", source="Orp intersection_of: MONDO:0016349 ! congenital hydrocephalus intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19967 ! CCDC88C relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19967 {source="MONDO:mim2gene_medgen"} ! CCDC88C property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -200674,9 +200210,9 @@ xref: Orphanet:2189 {source="OMIM:236680"} xref: UMLS:C1856016 {source="MEDGEN:343455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006037 {source="DC-OMIM:236680", source="DOID:0111355", source="MONDO:Redundant", source="OMIM:236680"} ! hydrolethalus syndrome intersection_of: MONDO:0006037 ! hydrolethalus syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26558 ! HYLS1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26558 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:236680"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26558 {source="MONDO:mim2gene_medgen"} ! HYLS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26558 {source="OMIM:236680"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -200740,7 +200276,6 @@ xref: SCTID:702407009 {source="MONDO:equivalentTo"} xref: UMLS:C0948368 {source="MEDGEN:184924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015161 {source="Orphanet:2473"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:2473", source="Orphanet:2473/inferred"} ! disorder of development or morphogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7108 {source="MONDO:mim2gene_medgen"} ! MKKS property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome" xsd:anyURI {source="GARD:0003427"} [Term] @@ -200759,7 +200294,7 @@ synonym: "urofacial syndrome type 1" EXACT CLINGEN_LABEL [MONDORULE:1, OMIM:2367 xref: OMIM:236730 {source="MONDO:equivalentTo", source="Orphanet:2704"} is_a: MONDO:0000463 {source="DC-OMIM:236730", source="OMIM:236730"} ! Ochoa syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:236730"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18374 {source="MONDO:mim2gene_medgen"} ! HPSE2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18374 {source="OMIM:236730"} [Term] id: MONDO:0009369 @@ -200818,7 +200353,7 @@ xref: Orphanet:79314 {source="OMIM:236792", source="MONDO:equivalentTo"} xref: SCTID:237961001 {source="MONDO:equivalentTo"} xref: UMLS:C1855995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341029"} is_a: MONDO:0016001 {source="DOID:0050574", source="Orphanet:79314"} ! 2-hydroxyglutaric aciduria -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20499 {source="MONDO:mim2gene_medgen"} ! L2HGDH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20499 {source="OMIM:236792"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria" xsd:anyURI {source="GARD:0010472"} [Term] @@ -200875,7 +200410,6 @@ xref: Orphanet:79155 {source="MONDO:equivalentTo", source="OMIM:236800"} xref: SCTID:72945002 {source="MONDO:equivalentTo"} xref: UMLS:C0268474 {source="MEDGEN:78681", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017350 {source="Orphanet:79155"} ! inborn disorder of tryptophan metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6469 {source="MONDO:mim2gene_medgen"} ! KYNU [Term] id: MONDO:0009373 @@ -200979,7 +200513,6 @@ xref: UMLS:C4082171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004739 {source="MESH:D020165", source="MONDO:Redundant", source="NCIT:C84612", source="Orphanet:147"} ! urea cycle disorder is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009376 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2323 {source="MONDO:mim2gene_medgen"} ! CPS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -201019,7 +200552,7 @@ xref: UMLS:C0268543 {source="MEDGEN:120649", source="MONDO:equivalentTo", source is_a: MONDO:0004739 {source="Orphanet:927"} ! urea cycle disorder is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009377 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17996 {source="MONDO:mim2gene_medgen"} ! NAGS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17996 {source="OMIM:237310"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -201116,7 +200649,7 @@ is_a: MONDO:0002254 {source="NCIT:C34741"} ! syndromic disease is_a: MONDO:0002408 {source="DC-OMIM:237500", source="DOID:12308", source="MESH:D007566", source="OMIM:237500"} ! hereditary hyperbilirubinemia is_a: MONDO:0005066 {source="Orphanet:234"} ! metabolic disease is_a: MONDO:0017755 {source="MONDO:Redundant", source="Orphanet:234"} ! inborn disorder of bilirubin metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/53 {source="MONDO:mim2gene_medgen"} ! ABCC2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/53 {source="OMIM:237500"} [Term] id: MONDO:0009381 @@ -201168,7 +200701,6 @@ xref: Orphanet:2312 {source="MONDO:equivalentTo", source="OMIM:237900", source=" xref: UMLS:C0270210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75718"} is_a: MONDO:0002408 {source="DC-OMIM:237900", source="MESH:C562692", source="OMIM:237900"} ! hereditary hyperbilirubinemia is_a: MONDO:0005154 {source="Orphanet:2312"} ! liver disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12530 {source="MONDO:mim2gene_medgen"} ! UGT1A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2791/hyperbilirubinemia-transient-familial-neonatal" xsd:anyURI {source="GARD:0002791"} @@ -201200,7 +200732,6 @@ xref: UMLS:C0266432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019155 {source="MONDO:Redundant", source="Orphanet:755/btnt"} ! Leydig cell hypoplasia intersection_of: MONDO:0019155 ! Leydig cell hypoplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6585 ! LHCGR -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6585 {source="MONDO:mim2gene_medgen"} ! LHCGR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -201289,7 +200820,6 @@ xref: UMLS:C0023817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0001336 {source="DC-OMIM:238600", source="DOID:14118", source="MONDO:indirect"} ! familial hyperlipidemia is_a: MONDO:0018637 {source="DOID:14118", source="Orphanet:309015"} ! familial chylomicronemia syndrome is_a: MONDO:0037748 {source="NCIT:C84771"} ! hyperlipoproteinemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6677 {source="MONDO:mim2gene_medgen"} ! LPL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency" xsd:anyURI {source="GARD:0012241"} @@ -201331,7 +200861,7 @@ is_a: MONDO:0004736 {source="DOID:9274", source="MONDO:indirect"} ! inborn disor is_a: MONDO:0005066 {source="DOID:9274/inferred", source="MONDO:Redundant", source="NCIT:C123433", source="Orphanet:2203/inferred"} ! metabolic disease is_a: MONDO:0017351 {source="Orphanet:2203"} ! inborn disorder of lysine and hydroxylysine metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009388 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17366 {source="MONDO:mim2gene_medgen"} ! AASS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17366 {source="OMIM:238700"} property_value: IAO:0000589 "hyperlysinemia (disease)" xsd:string [Term] @@ -201419,7 +200949,7 @@ is_a: MONDO:0002254 {source="NCIT:C129029"} ! syndromic disease is_a: MONDO:0004739 {source="Orphanet:415"} ! urea cycle disorder is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009393 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10985 {source="MONDO:mim2gene_medgen"} ! SLC25A15 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10985 {source="OMIM:238970"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -201468,7 +200998,7 @@ xref: UMLS:C0268414 {source="MEDGEN:75678", source="MONDO:equivalentTo", source= is_a: MONDO:0005382 {source="DC-OMIM:239000", source="DOID:0081368", source="NCIT:C131861", source="OMIM:239000"} ! bone Paget disease relationship: disease_has_feature HP:0011001 {source="Orphanet:2801"} ! Increased bone mineral density relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:2801", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11909 {source="MONDO:mim2gene_medgen"} ! TNFRSF11B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11909 {source="OMIM:239000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease" xsd:anyURI {source="GARD:0002831"} @@ -201510,7 +201040,6 @@ relationship: disease_has_feature HP:0001548 ! Overgrowth relationship: disease_has_feature HP:0011001 {source="Orphanet:3416"} ! Increased bone mineral density relationship: disease_has_feature HP:0100774 ! Hyperostosis relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:3416", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13771 {source="MONDO:mim2gene_medgen"} ! SOST property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -201557,7 +201086,6 @@ is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009397 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0004348 {source="Orphanet:417"} ! Abnormality of bone mineral density relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:417", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1514 {source="MONDO:mim2gene_medgen"} ! CASR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -201585,8 +201113,8 @@ xref: Orphanet:247262 {source="OMIM:239300"} xref: UMLS:C4551502 {source="MEDGEN:1647044", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016596 {source="DOID:0070433", source="MONDO:Redundant", source="OMIM:239300", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26031 ! PIGV -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26031 {source="MONDO:mim2gene_medgen"} ! PIGV +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26031 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26031 {source="OMIM:239300"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -201631,7 +201159,6 @@ is_a: MONDO:0023419 {source="DOID:0080542", source="MONDO:Redundant", source="ht intersection_of: MONDO:0023419 ! hyperprolinemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9453 ! PRODH relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009400 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9453 {source="MONDO:mim2gene_medgen"} ! PRODH [Term] id: MONDO:0009401 @@ -201673,9 +201200,9 @@ is_a: MONDO:0017355 {source="MONDO:Redundant", source="Orphanet:79101"} ! inborn is_a: MONDO:0023419 {source="DOID:0080543", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! hyperprolinemia intersection_of: MONDO:0023419 ! hyperprolinemia intersection_of: disease_has_basis_in_disruption_of GO:0003842 ! 1-pyrroline-5-carboxylate dehydrogenase activity -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/406 ! ALDH4A1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/406 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009401 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/406 {source="MONDO:mim2gene_medgen"} ! ALDH4A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/406 {source="OMIM:239510"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7145" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1798/delta-1-pyrroline-5-carboxylate-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0001798"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6710/hyperprolinemia-type-2" xsd:anyURI {source="GARD:0006710"} @@ -201815,7 +201342,6 @@ is_a: MONDO:0005516 {source="DOID:0060569", source="MESH:C535572"} ! osteochondr is_a: MONDO:0015160 {source="Orphanet:1517"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: disease_has_feature HP:0000998 {source="MONDO:Wikidata"} ! Hypertrichosis relationship: disease_has_feature MONDO:0019280 {source="MONDO:Wikidata"} ! hypertrichosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/60 {source="MONDO:mim2gene_medgen"} ! ABCC9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8585/cantu-syndrome" xsd:anyURI {source="GARD:0008585"} @@ -201926,10 +201452,10 @@ is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:3453", source="Or is_a: MONDO:0016165 {source="Orphanet:3453"} ! hereditary hypoparathyroidism is_a: MONDO:0017278 {source="DC-OMIM:240300", source="DOID:0050167", source="MONDO:Redundant", source="NCIT:C129727", source="Orphanet:3453"} ! autoimmune polyendocrinopathy intersection_of: MONDO:0017278 ! autoimmune polyendocrinopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/360 ! AIRE +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/360 relationship: excluded_subClassOf MONDO:0015130 {source="Orphanet:3453", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete acquired chronic primary adrenal insufficiency relationship: excluded_subClassOf MONDO:0019851 {source="Orphanet:3453", source="https://orcid.org/0000-0001-5208-3432"} ! acquired primary ovarian failure -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/360 {source="MONDO:mim2gene_medgen"} ! AIRE +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/360 {source="OMIM:240300"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -202037,7 +201563,7 @@ xref: Orphanet:2089 {source="MONDO:equivalentTo", source="OMIM:240600"} xref: SCTID:237964009 {source="MONDO:equivalentTo"} xref: UMLS:C1855861 {source="MEDGEN:343430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002412 {source="MONDO:Redundant", source="OMIM:240600", source="Orphanet:2089", source="PMID:33340416"} ! disorder of glycogen metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4707 {source="MONDO:mim2gene_medgen"} ! GYS2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4707 {source="OMIM:240600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -202057,7 +201583,6 @@ xref: OMIM:240800 {source="MONDO:equivalentTo"} xref: SCTID:62151007 {source="MONDO:equivalentTo"} xref: UMLS:C0271714 {source="MEDGEN:82888", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/59 {source="MONDO:mim2gene_medgen"} ! ABCC8 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -202079,7 +201604,6 @@ xref: Orphanet:293964 {source="OMIM:240900", source="MONDO:equivalentTo"} xref: UMLS:C3278384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:480014"} is_a: MONDO:0005151 {source="Orphanet:293964"} ! endocrine system disorder is_a: MONDO:0019716 {source="Orphanet:293964"} ! overgrowth syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/392 {source="MONDO:mim2gene_medgen"} ! AKT2 [Term] id: MONDO:0009417 @@ -202153,7 +201677,7 @@ is_a: MONDO:0044807 {source="MONDO:0018265-obsoleted"} ! inherited dystonia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009419 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3464", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:3464", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25784 {source="MONDO:mim2gene_medgen"} ! DCAF17 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25784 {source="OMIM:241080"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5592/woodhouse-sakati-syndrome" xsd:anyURI {source="GARD:0005592"} @@ -202257,8 +201781,8 @@ xref: SCTID:700109009 {source="MONDO:equivalentTo"} xref: UMLS:C1855849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343428"} is_a: MONDO:0015231 {source="DOID:0110143", source="MESH:C537651", source="MONDO:Redundant", source="OMIM:241200", source="Orphanet:620220"} ! Bartter syndrome intersection_of: MONDO:0015231 ! Bartter syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6255 ! KCNJ1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6255 {source="MONDO:mim2gene_medgen"} ! KCNJ1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6255 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6255 {source="OMIM:241200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -202326,7 +201850,6 @@ is_a: MONDO:0015159 {source="Orphanet:2323"} ! multiple congenital anomalies/dys is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2323", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:241410", source="Orphanet:2323"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11582 {source="MONDO:mim2gene_medgen"} ! TBCE property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -202423,9 +201946,9 @@ is_a: MONDO:0000044 {source="MONDO:0009430/inferred", source="MONDO:Redundant", is_a: MONDO:0017324 {source="MONDO:Redundant", source="Orphanet:289176/btnt"} ! autosomal recessive hypophosphatemic rickets is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder intersection_of: MONDO:0017324 ! autosomal recessive hypophosphatemic rickets -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2932 ! DMP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2932 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:241520"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2932 {source="MONDO:mim2gene_medgen"} ! DMP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2932 {source="OMIM:241520"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -202460,7 +201983,7 @@ is_a: MONDO:0005520 {source="DOID:0050947", source="MESH:C562793/inferred", sour is_a: MONDO:0024300 {source="MESH:C562793/inferred", source="MONDO:0009431/inferred", source="NCIT:C131450"} ! hypophosphatemic rickets is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder relationship: disease_has_feature HP:0002150 ! Hypercalciuria -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20305 {source="MONDO:mim2gene_medgen"} ! SLC34A3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20305 {source="OMIM:241530"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -202495,7 +202018,6 @@ xref: UMLS:C4551854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004933 {source="DC-OMIM:241550", source="MONDO:Redundant", source="OMIM:241550"} ! hypoplastic left heart syndrome intersection_of: MONDO:0004933 ! hypoplastic left heart syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 ! GJA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 {source="MONDO:mim2gene_medgen"} ! GJA1 [Term] id: MONDO:0009434 @@ -202515,7 +202037,6 @@ xref: OMIM:241600 {source="MONDO:equivalentTo"} xref: UMLS:C1855796 {source="MEDGEN:343422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:241600"} ! immunodeficiency disease relationship: excluded_subClassOf MONDO:0011476 {source="https://orcid.org/0000-0001-5208-3432"} ! MHC class I deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/914 {source="MONDO:mim2gene_medgen"} ! B2M [Term] id: MONDO:0009435 @@ -202575,7 +202096,6 @@ xref: SCTID:237714006 {source="MONDO:equivalentTo"} xref: UMLS:C0342418 {source="MEDGEN:137970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0007804 ! Pallister-Hall syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4319 {source="MONDO:mim2gene_medgen"} ! GLI3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas" xsd:anyURI {source="GARD:0002934"} @@ -202610,7 +202130,6 @@ xref: SCTID:722375007 {source="MONDO:equivalentTo"} xref: UMLS:C1855794 {source="MEDGEN:343420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="PMID:35963604", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3806 {source="MONDO:mim2gene_medgen"} ! FOXE1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -202665,6 +202184,7 @@ is_a: MONDO:0019269 {source="MONDO:Redundant", source="NCIT:C132827"} ! ichthyos is_a: MONDO:0019306 {source="MONDO:Redundant", source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:242100"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/430 {source="OMIM:242100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -202687,6 +202207,7 @@ xref: Orphanet:477 {source="OMIM:242150"} xref: SCTID:403780007 {source="MONDO:equivalentTo"} xref: UMLS:C1275089 {source="MEDGEN:224809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018781 {source="OMIM:242150", source="Orphanet:477/btnt"} ! KID syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/554 {source="OMIM:242150"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI [Term] @@ -202727,9 +202248,9 @@ xref: Orphanet:313 {source="MONDO:relatedTo", source="DOID:0060656", source="GAR xref: UMLS:C4551630 {source="MEDGEN:1635401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017265 {source="DC-OMIM:242300", source="DOID:0060656", source="MONDO:Redundant", source="OMIM:242300"} ! autosomal recessive congenital ichthyosis intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11777 ! TGM1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11777 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11777 {source="MONDO:mim2gene_medgen"} ! TGM1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11777 {source="OMIM:242300"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3170/ichthyosis-lamellar-1" xsd:anyURI {source="GARD:0003170"} @@ -202791,7 +202312,6 @@ xref: UMLS:C0598226 {source="MONDO:equivalentTo", source="MEDGEN:108615", source is_a: MONDO:0017265 {source="DC-OMIM:242500", source="DOID:0060713", source="OMIM:242500", source="Orphanet:457"} ! autosomal recessive congenital ichthyosis is_a: MONDO:0019269 {source="MONDO:Redundant", source="NCIT:C98934", source="Orphanet:457/inferred"} ! ichthyosis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14637 {source="MONDO:mim2gene_medgen"} ! ABCA12 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -203020,7 +202540,7 @@ relationship: disease_has_feature HP:0001644 {source="Orphanet:1493"} ! Dilated relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:1493", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy relationship: excluded_subClassOf MONDO:0019290 {source="Orphanet:1493", source="https://orcid.org/0000-0001-5208-3432"} ! hypopigmentation of the skin relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:242840", source="Orphanet:1493"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29331 {source="MONDO:mim2gene_medgen"} ! EPG5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29331 {source="OMIM:242840"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/448/vici-syndrome" xsd:anyURI {source="GARD:0000448"} @@ -203073,7 +202593,6 @@ intersection_of: MONDO:0000133 ! immunodeficiency-centromeric instability-facial intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2979 ! DNMT3B relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009454 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:242860"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2979 {source="MONDO:mim2gene_medgen"} ! DNMT3B [Term] id: MONDO:0009455 @@ -203147,7 +202666,7 @@ xref: UMLS:C0877024 {source="MEDGEN:164078", source="MONDO:equivalentTo", source is_a: MONDO:0015708 {source="Orphanet:1830"} ! immuno-osseous dysplasia is_a: MONDO:0016761 {source="DOID:0060490", source="Orphanet:1830", source="PMID:31633310"} ! spondyloepiphyseal dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009458 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11102 {source="MONDO:mim2gene_medgen"} ! SMARCAL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11102 {source="OMIM:242900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -203183,7 +202702,6 @@ xref: UMLS:C1855739 {source="MEDGEN:344563", source="MONDO:equivalentTo", source is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10597 {source="MONDO:mim2gene_medgen"} ! SCN9A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -203230,7 +202748,7 @@ xref: SCTID:236806004 {source="MONDO:equivalentTo"} xref: UMLS:C0403812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98020"} is_a: MONDO:0004983 {source="DC-OMIM:243060", source="DOID:0070183", source="OMIM:243060"} ! spermatogenic failure is_a: MONDO:0018394 {source="Orphanet:137893"} ! male infertility with teratozoospermia due to single gene mutation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11391 {source="MONDO:mim2gene_medgen"} ! AURKC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11391 {source="OMIM:243060"} [Term] id: MONDO:0009462 @@ -203305,7 +202823,6 @@ is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009465 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0015212 {source="Orphanet:436252", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic intestinal malformation relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:243150", source="Orphanet:2300", source="Orphanet:436252"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19750 {source="MONDO:mim2gene_medgen"} ! TTC7A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3013/intestinal-atresia-multiple" xsd:anyURI {source="GARD:0003013"} @@ -203404,7 +202921,6 @@ is_a: MONDO:0015762 ! progressive familial intrahepatic cholestasis is_a: MONDO:0019008 {source="DOID:0070231", source="MONDO:Redundant", source="OMIM:243300", source="Orphanet:99960"} ! benign recurrent intrahepatic cholestasis intersection_of: MONDO:0019008 ! benign recurrent intrahepatic cholestasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3706 ! ATP8B1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3706 {source="MONDO:mim2gene_medgen"} ! ATP8B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10028/benign-recurrent-intrahepatic-cholestasis-1" xsd:anyURI {source="GARD:0010028"} @@ -203442,7 +202958,6 @@ is_a: MONDO:0017579 {source="DC-OMIM:243310", source="DOID:0081112", source="MON is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy intersection_of: MONDO:0017579 ! Baraitser-Winter cerebrofrontofacial syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/132 ! ACTB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/132 {source="MONDO:mim2gene_medgen"} ! ACTB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI [Term] @@ -203474,7 +202989,7 @@ xref: MEDGEN:164207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:243400 {source="MONDO:equivalentTo"} xref: UMLS:C0878587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:164207"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7646 {source="MONDO:mim2gene_medgen"} ! NAT2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7646 {source="OMIM:243400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -203552,7 +203067,7 @@ xref: UMLS:C0268575 {source="MEDGEN:82822", source="MONDO:equivalentTo", source= is_a: MONDO:0000688 {source="DOID:14753", source="MONDO:Redundant", source="NCIT:C98964", source="Orphanet:33/inferred", source="PMID:33340416"} ! inborn organic aciduria is_a: MONDO:0019215 {source="Orphanet:33"} ! classic organic aciduria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009475 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6186 {source="MONDO:mim2gene_medgen"} ! IVD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6186 {source="OMIM:243500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia" xsd:anyURI {source="GARD:0000465"} @@ -203642,7 +203157,7 @@ is_a: MONDO:0015159 {source="Orphanet:506307"} ! multiple congenital anomalies/d is_a: MONDO:0016575 {source="DC-OMIM:616369", source="DOID:0110595"} ! primary ciliary dyskinesia is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:444069"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:506307", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1857 {source="MONDO:mim2gene_medgen"} ! CENPF +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1857 {source="OMIM:243605"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -203684,10 +203199,10 @@ xref: Orphanet:217390 {source="MONDO:equivalentTo", source="OMIM:243700"} xref: UMLS:C4722305 {source="MEDGEN:1648410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018037 {source="DOID:0080594", source="OMIM:243700"} ! hyper-IgE syndrome intersection_of: MONDO:0018037 ! hyper-IgE syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19191 ! DOCK8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19191 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009478 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:217390", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19191 {source="MONDO:mim2gene_medgen"} ! DOCK8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19191 {source="OMIM:243700"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2816/autosomal-recessive-hyper-ige-syndrome" xsd:anyURI {source="GARD:0002816"} [Term] @@ -203733,7 +203248,7 @@ relationship: excluded_subClassOf MONDO:0015778 {source="Orphanet:2315", source= relationship: excluded_subClassOf MONDO:0018762 {source="https://orcid.org/0000-0001-5208-3432"} ! non-acquired combined pituitary hormone deficiency relationship: excluded_subClassOf MONDO:0019287 {source="MESH:C535880", source="Orphanet:2315", source="https://orcid.org/0000-0001-5208-3432"} ! ectodermal dysplasia syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:243800", source="Orphanet:2315"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16808 {source="MONDO:mim2gene_medgen"} ! UBR1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16808 {source="OMIM:243800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -203818,9 +203333,9 @@ xref: UMLS:C3550478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018555 {source="DOID:0090092", source="MONDO:0009482/inferred", source="MONDO:Redundant", source="OMIM:244200"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15836 ! PROKR2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15836 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009482 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15836 {source="MONDO:mim2gene_medgen"} ! PROKR2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15836 {source="OMIM:244200"} [Term] id: MONDO:0009483 @@ -203883,9 +203398,9 @@ xref: Orphanet:98861 {source="MONDO:equivalentObsolete", source="OMIM:244400"} xref: UMLS:C4551906 {source="MONDO:equivalentTo", source="MEDGEN:1646059", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:244400", source="DOID:0110594", source="MONDO:Redundant", source="OMIM:244400"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2954 ! DNAI1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2954 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009484 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2954 {source="MONDO:mim2gene_medgen"} ! DNAI1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2954 {source="OMIM:244400"} [Term] id: MONDO:0009485 @@ -203919,7 +203434,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic is_a: MONDO:0015159 {source="Orphanet:2707"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009485 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2707", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13478 {source="MONDO:mim2gene_medgen"} ! UBE3B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13478 {source="OMIM:244450"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -203953,7 +203468,6 @@ is_a: MONDO:0006025 {source="DOID:0080722"} ! autosomal recessive disease is_a: MONDO:0016516 {source="DC-OMIM:244460", source="DOID:0080722", source="MONDO:Redundant", source="OMIM:244460", source="Orphanet:93324"} ! Kenny-Caffey syndrome intersection_of: MONDO:0016516 ! Kenny-Caffey syndrome intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11582 {source="MONDO:mim2gene_medgen"} ! TBCE property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8367/kenny-caffey-syndrome-type-1" xsd:anyURI {source="GARD:0008367"} [Term] @@ -204055,7 +203569,6 @@ is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar ke is_a: MONDO:0017739 {source="Orphanet:678"} ! disorder of lysosomal-related organelles is_a: MONDO:0019287 {source="Orphanet:678"} ! ectodermal dysplasia syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:245000", source="Orphanet:678"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2528 {source="MONDO:mim2gene_medgen"} ! CTSC [Term] id: MONDO:0009491 @@ -204088,7 +203601,6 @@ is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar ke is_a: MONDO:0017739 {source="Orphanet:2342"} ! disorder of lysosomal-related organelles is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2342", source="Orphanet:2342/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:245010", source="Orphanet:2342"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2528 {source="MONDO:mim2gene_medgen"} ! CTSC property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/44/haim-munk-syndrome" xsd:anyURI {source="GARD:0000044"} [Term] @@ -204125,7 +203637,7 @@ xref: Orphanet:832 {source="MONDO:equivalentTo", source="OMIM:245050"} xref: SCTID:238004006 {source="MONDO:equivalentTo"} xref: UMLS:C0342792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137979"} is_a: MONDO:0019229 {source="Orphanet:832"} ! inborn disorder of ketolysis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8527 {source="MONDO:mim2gene_medgen"} ! OXCT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8527 {source="OMIM:245050"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -204199,7 +203711,7 @@ is_a: MONDO:0015159 {source="Orphanet:85202"} ! multiple congenital anomalies/dy is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019701 {source="Orphanet:85202", source="PMID:31633310"} ! chondrodysplasia punctata relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:85202", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7060 {source="MONDO:mim2gene_medgen"} ! MGP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7060 {source="OMIM:245150"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8449/keutel-syndrome" xsd:anyURI {source="GARD:0008449"} @@ -204310,7 +203822,7 @@ is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral n relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009499 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_accumulation_of CHEBI:16874 {source="PMID:14572137"} ! psychosine relationship: disease_has_basis_in_disruption_of GO:0004336 {source="PMID:14572137", source="https://www.researchgate.net/figure/Pathogenic-cascade-of-Krabbe-disease-Adapted-from-Suzuki-2003-NOTE-Appearance-of_fig1_251856987"} ! galactosylceramidase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4115 {source="MONDO:mim2gene_medgen"} ! GALC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4115 {source="OMIM:245200"} [Term] id: MONDO:0009500 @@ -204325,7 +203837,6 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9449 ! PRNP intersection_of: predisposes_towards MONDO:0006825 ! kuru relationship: excluded_subClassOf MONDO:0006825 {source="Orphanet:454745/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! kuru -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9449 {source="MONDO:mim2gene_medgen"} ! PRNP [Term] id: MONDO:0009501 @@ -204348,7 +203859,6 @@ xref: Orphanet:171690 {source="OMIM:245340", source="MONDO:equivalentTo"} xref: SCTID:766715000 {source="MONDO:equivalentTo"} xref: UMLS:C1855577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344529"} is_a: MONDO:0020123 {source="Orphanet:171690"} ! metabolic myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10922 {source="MONDO:mim2gene_medgen"} ! SLC16A1 [Term] id: MONDO:0009502 @@ -204374,7 +203884,7 @@ xref: Orphanet:765 {source="OMIM:245348"} xref: Orphanet:79244 {source="MONDO:equivalentTo", source="OMIM:245348"} xref: UMLS:C1855565 {source="MEDGEN:343386", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019169 {source="DC-OMIM:245348", source="OMIM:245348", source="Orphanet:79244"} ! pyruvate dehydrogenase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2896 {source="MONDO:mim2gene_medgen"} ! DLAT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2896 {source="OMIM:245348"} [Term] id: MONDO:0009503 @@ -204407,7 +203917,7 @@ xref: Orphanet:255182 {source="MONDO:equivalentTo", source="OMIM:245349"} xref: Orphanet:765 {source="OMIM:245349"} xref: UMLS:C1855553 {source="MEDGEN:343383", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019169 {source="DC-OMIM:245349", source="OMIM:245349", source="Orphanet:255182"} ! pyruvate dehydrogenase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21350 {source="MONDO:mim2gene_medgen"} ! PDHX +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21350 {source="OMIM:245349"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -204445,8 +203955,8 @@ is_a: MONDO:0006040 {source="MESH:C538134", source="MESH:C566885", source="OMIM: is_a: MONDO:0016796 {source="Orphanet:17"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form is_a: MONDO:0018158 {source="MONDO:Redundant", source="OMIM:245400", source="Orphanet:17", source="Orphanet:17/inferred"} ! mitochondrial DNA depletion syndrome intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11449 ! SUCLG1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11449 {source="MONDO:mim2gene_medgen"} ! SUCLG1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11449 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11449 {source="OMIM:245400"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3163/lactic-acidosis-congenital-infantile" xsd:anyURI {source="GARD:0003163"} [Term] @@ -204463,6 +203973,7 @@ xref: OMIM:245450 {source="MONDO:equivalentTo"} xref: UMLS:C5193006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679270"} is_a: MONDO:0003847 {source="MESH:C565446/inferred"} ! hereditary disease is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19708 {source="OMIM:245450"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -204575,7 +204086,7 @@ is_a: MONDO:0000414 {source="DOID:2538"} ! childhood electroclinical syndrome is_a: MONDO:0002254 {source="NCIT:C84806"} ! syndromic disease is_a: MONDO:0020072 {source="Orphanet:98818", source="https://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4585 {source="MONDO:mim2gene_medgen"} ! GRIN2A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4585 {source="MONDO:mim2gene_medgen"} ! GRIN2A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4585 {source="OMIM:245570"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome" xsd:anyURI {source="GARD:0006855"} property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/lks-overview.html" xsd:anyURI @@ -204621,6 +204132,7 @@ is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:284139", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations relationship: has_characteristic MONDO:0021140 ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/923 {source="OMIM:245600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -204678,7 +204190,6 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:2407", source="Orphanet:2407/inferred"} ! respiratory system disorder is_a: MONDO:0017612 {source="Orphanet:2407"} ! junctional epidermolysis bullosa relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:2407", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic respiratory or mediastinal malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6483 {source="MONDO:mim2gene_medgen"} ! LAMA3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -204721,7 +204232,6 @@ is_a: MONDO:0015159 {source="Orphanet:2377"} ! multiple congenital anomalies/dys is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2377", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:245800", source="Orphanet:2377"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16268 {source="MONDO:mim2gene_medgen"} ! PNPLA6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome" xsd:anyURI {source="GARD:0012635"} @@ -204760,7 +204270,6 @@ is_a: MONDO:0001822 {source="DOID:1391"} ! hypolipoproteinemia is_a: MONDO:0018999 {source="Orphanet:79293"} ! LCAT deficiency is_a: MONDO:0019052 {source="DOID:1391/inferred", source="MONDO:Redundant", source="NCIT:C84813", source="Orphanet:79293/inferred"} ! inborn errors of metabolism relationship: excluded_subClassOf MONDO:0003664 {source="Orphanet:79293", source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6522 {source="MONDO:mim2gene_medgen"} ! LCAT [Term] id: MONDO:0009516 @@ -204782,7 +204291,6 @@ xref: UMLS:C1855523 {source="MEDGEN:343374", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28557 {source="MONDO:mim2gene_medgen"} ! KLHDC8B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI [Term] @@ -204821,7 +204329,6 @@ relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:508", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome relationship: excluded_subClassOf MONDO:0019280 {source="Orphanet:508", source="https://orcid.org/0000-0001-5208-3432"} ! hypertrichosis relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:246200", source="Orphanet:508"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6091 {source="MONDO:mim2gene_medgen"} ! INSR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI @@ -204844,7 +204351,6 @@ xref: UMLS:C1968668 {source="MEDGEN:368500", source="MONDO:equivalentTo", source intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11848 ! TLR2 intersection_of: predisposes_towards MONDO:0005124 ! leprosy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11848 {source="MONDO:mim2gene_medgen"} ! TLR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -204912,7 +204418,7 @@ xref: UMLS:C0268601 {source="MEDGEN:78692", source="MONDO:equivalentTo", source= is_a: MONDO:0017713 {source="Orphanet:20"} ! disorder of fatty acid oxidation and ketogenesis is_a: MONDO:0019215 {source="Orphanet:20"} ! classic organic aciduria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009520 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5005 {source="MONDO:mim2gene_medgen"} ! HMGCL +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5005 {source="OMIM:246450"} [Term] id: MONDO:0009521 @@ -205105,7 +204611,7 @@ is_a: MONDO:0003847 {source="MESH:C535904/inferred"} ! hereditary disease is_a: MONDO:0006025 {source="DOID:0111422"} ! autosomal recessive disease is_a: MONDO:0018637 {source="DOID:0111422", source="Orphanet:535453"} ! familial chylomicronemia syndrome relationship: has_characteristic HP:0000007 {source="Orphanet:535453"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14154 {source="MONDO:mim2gene_medgen", source="Orphanet:535453"} ! LMF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14154 {source="OMIM:246650"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10244/lipase-deficiency-combined" xsd:anyURI {source="GARD:0010244"} [Term] @@ -205140,7 +204646,7 @@ xref: UMLS:C0795956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017774 {source="MESH:C535460", source="Orphanet:71"} ! hypobetalipoproteinemia relationship: excluded_subClassOf MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:71", source="Orphanet:71/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal disorder relationship: excluded_subClassOf MONDO:0015180 {source="Orphanet:71", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete intestinal disease due to fat malabsorption -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10535 {source="MONDO:mim2gene_medgen"} ! SAR1B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10535 {source="OMIM:246700"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9683/chylomicron-retention-disease" xsd:anyURI {source="GARD:0009683"} [Term] @@ -205176,7 +204682,7 @@ is_a: MONDO:0018424 {source="Orphanet:2394"} ! inherited lipoic acid biosynthesi is_a: MONDO:0019169 {source="Orphanet:2394"} ! pyruvate dehydrogenase deficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009529 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0009637 {source="Orphanet:2394", source="https://orcid.org/0000-0001-5208-3432"} ! inborn mitochondrial myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2898 {source="MONDO:mim2gene_medgen"} ! DLD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2898 {source="OMIM:246900"} [Term] id: MONDO:0009530 @@ -205214,7 +204720,7 @@ xref: UMLS:C0023795 {source="MEDGEN:6112", source="MONDO:equivalentTo", source=" is_a: MONDO:0002525 {source="DOID:14498"} ! inherited lipid metabolism disorder is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder is_a: MONDO:0021154 {source="Orphanet:530"} ! dermis disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3153 {source="MONDO:mim2gene_medgen"} ! ECM1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3153 {source="OMIM:247100"} [Term] id: MONDO:0009531 @@ -205471,6 +204977,7 @@ xref: OMIM:248000 {source="MONDO:equivalentTo", source="GARD:0000148"} xref: Orphanet:2477 {source="OMIM:248000"} xref: UMLS:C3806412 {source="MEDGEN:812742", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016608 {source="MESH:C537453", source="Orphanet:2477/btnt"} ! megalencephaly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21066 {source="OMIM:248000"} [Term] id: MONDO:0009545 @@ -205554,7 +205061,7 @@ is_a: MONDO:0017624 {source="Orphanet:2196"} ! familial primary hypomagnesemia w is_a: MONDO:0018100 {source="DOID:0060881", source="MONDO:Redundant", source="OMIM:248190", source="Orphanet:2196/inferred"} ! familial primary hypomagnesemia is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! hereditary macular dystrophy relationship: excluded_subClassOf MONDO:0010645 {source="MESH:C536148", source="https://orcid.org/0000-0001-5208-3432"} ! oculocerebrorenal syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2040 {source="MONDO:mim2gene_medgen"} ! CLDN19 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2040 {source="OMIM:248190"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3451/meier-blumberg-imahorn-syndrome" xsd:anyURI {source="GARD:0003451"} [Term] @@ -205631,8 +205138,8 @@ is_a: MONDO:0006510 {source="MESH:C537153"} ! renal tubular transport disease is_a: MONDO:0017624 {source="Orphanet:31043"} ! familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis is_a: MONDO:0018100 {source="DOID:0060880", source="MONDO:Redundant", source="OMIM:248250", source="Orphanet:31043/inferred"} ! familial primary hypomagnesemia intersection_of: MONDO:0018100 ! familial primary hypomagnesemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2037 ! CLDN16 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2037 {source="MONDO:mim2gene_medgen"} ! CLDN16 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2037 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2037 {source="OMIM:248250"} [Term] id: MONDO:0009551 @@ -205675,7 +205182,7 @@ xref: UMLS:C0025221 {source="MEDGEN:7522", source="MONDO:equivalentTo", source=" is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0017666 {source="https://orcid.org/0000-0001-5208-3432"} ! diffuse palmoplantar keratoderma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18746 {source="MONDO:mim2gene_medgen"} ! SLURP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18746 {source="OMIM:248300"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -205719,8 +205226,8 @@ xref: Orphanet:293843 {source="OMIM:248340"} xref: UMLS:C0796032 {source="MEDGEN:208657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017398 {source="DC-OMIM:248340", source="DOID:0060577", source="MONDO:Redundant", source="OMIM:248340"} ! 3MC syndrome intersection_of: MONDO:0017398 ! 3MC syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2220 ! COLEC10 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2220 {source="MONDO:mim2gene_medgen"} ! COLEC10 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2220 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2220 {source="OMIM:248340"} [Term] id: MONDO:0009555 @@ -205760,7 +205267,7 @@ xref: UMLS:C0342793 {source="MEDGEN:91001", source="MONDO:equivalentTo", source= is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria is_a: MONDO:0005066 {source="Orphanet:943"} ! metabolic disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009556 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7150 {source="MONDO:mim2gene_medgen"} ! MLYCD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7150 {source="OMIM:248360"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -205794,7 +205301,6 @@ xref: UMLS:C5399785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016584 {source="DC-OMIM:248370", source="DOID:0081128", source="OMIM:248370", source="Orphanet:90153"} ! mandibuloacral dysplasia is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy" xsd:anyURI {source="GARD:0003374"} @@ -205823,7 +205329,6 @@ xref: UMLS:C1855433 {source="MEDGEN:340868", source="MONDO:equivalentTo", source is_a: MONDO:0002457 {source="DOID:0080791", source="MONDO:Redundant", source="OMIM:248390"} ! Treacher-Collins syndrome intersection_of: MONDO:0002457 ! Treacher-Collins syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20194 ! POLR1C -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20194 {source="MONDO:mim2gene_medgen"} ! POLR1C property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9125/treacher-collins-syndrome-3" xsd:anyURI {source="GARD:0009125"} @@ -205869,7 +205374,6 @@ xref: SCTID:703539006 {source="MONDO:equivalentTo"} xref: UMLS:C1855425 {source="MEDGEN:383680", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015160 {source="Orphanet:2717"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0021147 {source="Orphanet:2717", source="Orphanet:2717/inferred"} ! disorder of development or morphogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23399 {source="MONDO:mim2gene_medgen"} ! FREM1 [Term] id: MONDO:0009561 @@ -205917,7 +205421,7 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: disease_has_basis_in_disruption_of GO:0004559 ! alpha-mannosidase activity relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome relationship: disease_has_feature MONDO:0005066 ! metabolic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6826 {source="MONDO:mim2gene_medgen"} ! MAN2B1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6826 {source="OMIM:248500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis" xsd:anyURI {source="GARD:0006968"} @@ -205962,7 +205466,7 @@ is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral n is_a: MONDO:0800088 {source="Orphanet:118", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009562 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6831 {source="MONDO:mim2gene_medgen"} ! MANBA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6831 {source="OMIM:248510"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -206059,7 +205563,6 @@ is_a: MONDO:0015159 {source="Orphanet:2461"} ! multiple congenital anomalies/dys is_a: MONDO:0015168 {source="Orphanet:2461"} ! arthrogryposis multiplex congenita relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2461", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:2461", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26270 {source="MONDO:mim2gene_medgen"} ! PIEZO2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -206150,7 +205653,7 @@ is_a: MONDO:0006025 {source="DOID:0080195", source="MONDO:indirect"} ! autosomal is_a: MONDO:0020046 {source="Orphanet:559"} ! autosomal recessive degenerative and progressive cerebellar ataxia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009567 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:248800", source="Orphanet:559"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24624 {source="MONDO:mim2gene_medgen"} ! SIL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24624 {source="OMIM:248800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -206181,7 +205684,7 @@ xref: Orphanet:101001 {source="DOID:0060245", source="MONDO:equivalentTo", sourc xref: SCTID:764734003 {source="MONDO:equivalentTo"} xref: UMLS:C1855346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343325"} is_a: MONDO:0019064 {source="DOID:0060245", source="MESH:C565409", source="MONDO:Redundant", source="OMIM:248900", source="Orphanet:101001/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20373 {source="MONDO:mim2gene_medgen"} ! SPG21 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20373 {source="OMIM:248900"} [Term] id: MONDO:0009569 @@ -206273,7 +205776,6 @@ is_a: MONDO:0018921 {source="DC-OMIM:249000", source="DOID:0070115", source="MON is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism intersection_of: MONDO:0018921 ! Meckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7121 ! MKS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7121 {source="MONDO:mim2gene_medgen"} ! MKS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -206297,7 +205799,6 @@ xref: Orphanet:342 {source="OMIM:249100"} is_a: MONDO:0018088 {source="DC-OMIM:249100", source="MONDO:Entailed", source="MONDO:Redundant"} ! familial Mediterranean fever intersection_of: MONDO:0018088 ! familial Mediterranean fever intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6998 {source="MONDO:mim2gene_medgen"} ! MEFV property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -206367,7 +205868,7 @@ is_a: MONDO:0020112 {source="Orphanet:49827"} ! vitamin B12- and folate-independ relationship: disease_responds_to CHEBI:26948 ! vitamin B1 relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:49827", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:249270", source="Orphanet:49827"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10938 {source="MONDO:mim2gene_medgen"} ! SLC19A2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10938 {source="OMIM:249270"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9210/thiamine-responsive-megaloblastic-anemia-syndrome" xsd:anyURI {source="GARD:0009210"} @@ -206463,7 +205964,6 @@ xref: Orphanet:2481 {source="OMIM:249400", source="MONDO:equivalentTo"} xref: UMLS:C0544862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154259"} is_a: MONDO:0005073 {source="Orphanet:2481"} ! melanocytic nevus is_a: MONDO:0042983 {source="MESH:C537387", source="https://orcid.org/0000-0002-6601-2165"} ! neurocutaneous syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7989 {source="MONDO:mim2gene_medgen"} ! NRAS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -206508,7 +206008,7 @@ relationship: excluded_subClassOf MONDO:0005093 {source="MESH:C536577", source=" relationship: excluded_subClassOf MONDO:0005381 {source="MESH:C536577", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder relationship: excluded_subClassOf MONDO:0006816 {source="MESH:C536577", source="https://orcid.org/0000-0001-5208-3432"} ! arthropathy relationship: excluded_subClassOf MONDO:0018233 {source="Orphanet:137834", source="https://orcid.org/0000-0001-5208-3432"} ! otopalatodigital syndrome spectrum disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29242 {source="MONDO:mim2gene_medgen"} ! SH3PXD2B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29242 {source="OMIM:249420"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5000" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5001" xsd:anyURI @@ -206538,8 +206038,8 @@ xref: OMIM:249500 {source="MONDO:equivalentTo"} xref: UMLS:C1855304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344468"} is_a: MONDO:0019502 {source="DC-OMIM:249500", source="DOID:0081177", source="MONDO:Redundant", source="OMIM:249500"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9477 ! PRSS12 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9477 {source="MONDO:mim2gene_medgen"} ! PRSS12 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9477 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9477 {source="OMIM:249500"} [Term] id: MONDO:0009581 @@ -206804,7 +206304,6 @@ xref: UMLS:C0268262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018868 {source="DC-OMIM:249900", source="MESH:C562609"} ! metachromatic leukodystrophy is_a: MONDO:0100517 {source="https://clinicalgenome.org/affiliation/50009/"} ! PSAP-related sphingolipidosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009590 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9498 {source="MONDO:mim2gene_medgen"} ! PSAP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6019" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10674/metachromatic-leukodystrophy-due-to-saposin-b-deficiency" xsd:anyURI {source="GARD:0010674"} @@ -206848,7 +206347,7 @@ xref: Orphanet:751 {source="OMIM:250100"} xref: SCTID:44359008 {source="https://orcid.org/0009-0002-1597-2198", source="MONDO:equivalentTo"} xref: UMLS:C0751276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155528"} is_a: MONDO:0018868 {source="DC-OMIM:250100", source="Orphanet:309263"} ! metachromatic leukodystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/713 {source="MONDO:mim2gene_medgen"} ! ARSA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/713 {source="OMIM:250100"} [Term] id: MONDO:0009592 @@ -206912,8 +206411,8 @@ is_a: MONDO:0019694 {source="Orphanet:93317"} ! spondylodysplastic dysplasia is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4556 ! GPX4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4556 {source="MONDO:mim2gene_medgen"} ! GPX4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4556 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4556 {source="OMIM:250220"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4993/spondylometaphyseal-dysplasia-sedaghatian-type" xsd:anyURI {source="GARD:0004993"} @@ -206983,7 +206482,6 @@ is_a: MONDO:0015708 {source="Orphanet:175"} ! immuno-osseous dysplasia is_a: MONDO:0019287 {source="DOID:14773", source="Orphanet:175"} ! ectodermal dysplasia syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009595 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:250250", source="Orphanet:175"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10031 {source="MONDO:mim2gene_medgen"} ! RMRP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia" xsd:anyURI {source="GARD:0006996"} @@ -207026,7 +206524,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditar is_a: MONDO:0005516 {source="PMID:31413057", source="https://orcid.org/0009-0001-6494-4831"} ! osteochondrodysplasia is_a: MONDO:0018230 {source="PMID:31413057", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia relationship: excluded_subClassOf MONDO:0000138 {source="DC-OMIM:250400", source="https://orcid.org/0000-0001-5208-3432"} ! metaphyseal chondrodysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7159 {source="MONDO:mim2gene_medgen"} ! MMP13 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -207054,7 +206551,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005516 {source="PMID:7252997", source="https://orcid.org/0009-0001-6494-4831"} ! osteochondrodysplasia is_a: MONDO:0018230 {source="PMID:7252997", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10664 {source="MONDO:mim2gene_medgen"} ! CWC27 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10664 {source="OMIM:250410"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -207121,7 +206618,6 @@ xref: Orphanet:1838 {source="MONDO:equivalentObsolete", source="OMIM:250460"} xref: UMLS:C1834821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320444"} is_a: MONDO:0009595 ! cartilage-hair hypoplasia relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:250460"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10031 {source="MONDO:mim2gene_medgen"} ! RMRP property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10622/metaphyseal-dysplasia-without-hypotrichosis" xsd:anyURI {source="GARD:0010622"} [Term] @@ -207169,7 +206665,7 @@ is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria is_a: MONDO:0019215 {source="Orphanet:88639"} ! classic organic aciduria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009603 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0006573 ! valine metabolic process -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4908 {source="MONDO:mim2gene_medgen"} ! HIBCH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4908 {source="OMIM:250620"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -207218,8 +206714,8 @@ xref: UMLS:C4285231 {source="MEDGEN:925090", source="MONDO:equivalentTo", source is_a: MONDO:0001117 {source="DC-OMIM:250790", source="MESH:C567102", source="MONDO:Redundant", source="MONDO:indirect"} ! methemoglobinemia is_a: MONDO:0018963 {source="Orphanet:621/btnt"} ! hereditary methemoglobinemia intersection_of: MONDO:0001117 ! methemoglobinemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2570 ! CYB5A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2570 {source="MONDO:mim2gene_medgen"} ! CYB5A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2570 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2570 {source="OMIM:250790"} [Term] id: MONDO:0009606 @@ -207249,7 +206745,6 @@ xref: Orphanet:621 {source="OMIM:250800"} xref: UMLS:C0268193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75661"} is_a: MONDO:0001117 {source="DC-OMIM:250800", source="MONDO:Redundant", source="MONDO:indirect"} ! methemoglobinemia is_a: MONDO:0018963 {source="Orphanet:621/btnt"} ! hereditary methemoglobinemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2873 {source="MONDO:mim2gene_medgen"} ! CYB5R3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -207283,7 +206778,6 @@ xref: UMLS:C0268621 {source="MEDGEN:75700", source="MONDO:equivalentTo", source= is_a: MONDO:0005066 {source="MONDO:Redundant", source="NCIT:C123435", source="Orphanet:168598/inferred"} ! metabolic disease is_a: MONDO:0019222 {source="Orphanet:168598"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009607 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6903 {source="MONDO:mim2gene_medgen"} ! MAT1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -207338,7 +206832,6 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: excluded_subClassOf MONDO:0005240 {source="Orphanet:2170/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder relationship: excluded_subClassOf MONDO:0019737 {source="Orphanet:2170", source="https://orcid.org/0000-0001-5208-3432"} ! thrombotic microangiopathy relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:250940", source="Orphanet:2170"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7468 {source="MONDO:mim2gene_medgen"} ! MTR property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type" xsd:anyURI {source="GARD:0003577"} [Term] @@ -207389,9 +206882,9 @@ xref: UMLS:C0342727 {source="MONDO:equivalentTo", source="MEDGEN:90994", source= is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria is_a: MONDO:0017359 {source="DC-OMIM:250950", source="DOID:0110002", source="MONDO:Redundant", source="NCIT:C98683", source="OMIM:250950", source="Orphanet:67046"} ! 3-methylglutaconic aciduria intersection_of: MONDO:0017359 ! 3-methylglutaconic aciduria -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/890 ! AUH +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/890 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009610 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/890 {source="MONDO:mim2gene_medgen"} ! AUH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/890 {source="OMIM:250950"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -207465,7 +206958,7 @@ xref: UMLS:C1855114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002012 {source="DOID:0060740", source="Orphanet:27"} ! methylmalonic acidemia is_a: MONDO:0019215 ! classic organic aciduria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009612 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7526 {source="MONDO:mim2gene_medgen"} ! MMUT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7526 {source="OMIM:251000"} [Term] id: MONDO:0009613 @@ -207513,7 +207006,7 @@ xref: SCTID:82245003 {source="MONDO:equivalentTo", source="MONDO:preferredExtern xref: UMLS:C1855109 {source="MONDO:equivalentTo", source="MEDGEN:344422", source="MONDO:MEDGEN"} is_a: MONDO:0017214 {source="Orphanet:79310"} ! vitamin B12-responsive methylmalonic acidemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009613 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18871 {source="MONDO:mim2gene_medgen"} ! MMAA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18871 {source="OMIM:251100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4917" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI @@ -207551,7 +207044,7 @@ xref: Orphanet:79311 {source="DOID:0060743", source="MONDO:equivalentTo", source xref: UMLS:C1855102 {source="MEDGEN:344420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017214 {source="Orphanet:79311"} ! vitamin B12-responsive methylmalonic acidemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009614 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19331 {source="MONDO:mim2gene_medgen"} ! MMAB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19331 {source="OMIM:251110"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4916" xsd:anyURI @@ -207587,7 +207080,7 @@ xref: UMLS:C1855100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria is_a: MONDO:0002012 {source="Orphanet:308425"} ! methylmalonic acidemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009615 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16732 {source="MONDO:mim2gene_medgen"} ! MCEE +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16732 {source="OMIM:251120"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -207647,9 +207140,9 @@ xref: UMLS:C1855081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016660 {source="DC-OMIM:251200", source="DOID:0070285", source="MONDO:Redundant", source="OMIM:251200"} ! autosomal recessive primary microcephaly is_a: MONDO:0100200 {source="https://clinicalgenome.org/affiliation/40006/"} ! microcephaly with intellectual disability intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6954 ! MCPH1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6954 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6954 {source="MONDO:mim2gene_medgen"} ! MCPH1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6954 {source="OMIM:251200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5725" xsd:anyURI [Term] @@ -207702,7 +207195,6 @@ xref: OMIM:251230 {source="MONDO:equivalentTo"} xref: Orphanet:572768 {source="MONDO:equivalentTo"} xref: UMLS:C1855079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381553"} is_a: MONDO:0003847 {source="MESH:C565382/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2993 {source="MONDO:mim2gene_medgen"} ! DONSON [Term] id: MONDO:0009620 @@ -207786,7 +207278,6 @@ xref: OMIM:251255 {source="Orphanet:313795", source="MONDO:equivalentTo", source xref: Orphanet:313795 {source="MONDO:equivalentTo", source="OMIM:251255"} xref: UMLS:C0796063 {source="MEDGEN:810673", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015159 {source="Orphanet:313795"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9891 {source="MONDO:mim2gene_medgen"} ! RBBP8 [Term] id: MONDO:0009623 @@ -207840,7 +207331,6 @@ is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:647", source="Or is_a: MONDO:0021190 {source="MESH:D049932", source="MONDO:Redundant", source="NCIT:C4692"} ! DNA repair disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009623 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:251260", source="Orphanet:647"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7652 {source="MONDO:mim2gene_medgen"} ! NBN property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome" xsd:anyURI {source="GARD:0003904"} [Term] @@ -207877,11 +207367,11 @@ is_a: MONDO:0000181 {source="DC-OMIM:251270", source="MONDO:Redundant", source=" is_a: MONDO:0002254 {source="DOID:0080105"} ! syndromic disease is_a: MONDO:0019118 {source="Orphanet:2518"} ! inherited retinal dystrophy intersection_of: MONDO:0000181 ! microcephaly and chorioretinopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18127 ! TUBGCP6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18127 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009624 {source="MONDO:CLINGEN"} relationship: disease_has_feature MONDO:0019118 ! inherited retinal dystrophy relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18127 {source="MONDO:mim2gene_medgen"} ! TUBGCP6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18127 {source="OMIM:251270"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI [Term] @@ -207900,6 +207390,7 @@ xref: MESH:C537546 {source="MONDO:equivalentTo"} xref: OMIM:251280 {source="MONDO:equivalentTo"} xref: UMLS:C4538630 {source="MEDGEN:1615973", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017868 {source="OMIM:251280"} ! diencephalic-mesencephalic junction dysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8657 {source="OMIM:251280"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8510/microcephaly-with-spastic-quadriplegia" xsd:anyURI {source="GARD:0008510"} [Term] @@ -208028,7 +207519,6 @@ xref: UMLS:C4012146 {source="MEDGEN:860583", source="MONDO:equivalentTo", source is_a: MONDO:0015426 {source="DC-OMIM:251450", source="MONDO:Redundant", source="OMIM:251450"} ! Desbuquois dysplasia intersection_of: MONDO:0015426 ! Desbuquois dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19721 ! CANT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19721 {source="MONDO:mim2gene_medgen"} ! CANT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -208091,7 +207581,6 @@ xref: Orphanet:238763 {source="OMIM:251750"} xref: UMLS:C3538951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761238"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100236 {source="https://clinicalgenome.org/affiliation/40077/"} ! LTBP2-related ocular dysgenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6715 {source="MONDO:mim2gene_medgen"} ! LTBP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5787" xsd:anyURI [Term] @@ -208163,7 +207652,6 @@ xref: UMLS:C0341306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000824 {source="DC-OMIM:251850", source="DOID:0060775", source="OMIM:251850"} ! congenital diarrhea intersection_of: MONDO:0000249 {source="MONDO:mim2gene_medgen"} ! secretory diarrhea intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7603 {source="MONDO:mim2gene_medgen"} ! MYO5B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7603 {source="MONDO:mim2gene_medgen"} ! MYO5B [Term] id: MONDO:0009636 @@ -208193,7 +207681,6 @@ is_a: MONDO:0019236 {source="Orphanet:279934"} ! inborn disorder of purine metab is_a: MONDO:0100512 {source="Orphanet:279934", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome, hepatocerebral form intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2858 ! DGUOK -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2858 {source="MONDO:mim2gene_medgen"} ! DGUOK [Term] id: MONDO:0009637 @@ -208332,7 +207819,7 @@ xref: PMID:9731530 {source="DOID:0111164"} xref: UMLS:C1854988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381530"} is_a: MONDO:0020480 {source="DOID:0111164", source="OMIM:252150", source="Orphanet:308386"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009643 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7190 {source="MONDO:mim2gene_medgen"} ! MOCS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7190 {source="OMIM:252150"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -208367,7 +207854,7 @@ xref: PMID:10053004 {source="DOID:0111163"} xref: UMLS:C1854989 {source="MEDGEN:340760", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020480 {source="DOID:0111163", source="OMIM:252160", source="Orphanet:308393"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009644 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7193 {source="MONDO:mim2gene_medgen"} ! MOCS2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7193 {source="OMIM:252160"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -208504,7 +207991,6 @@ is_a: MONDO:0019248 {source="DC-OMIM:252500", source="MESH:C538602", source="NCI is_a: MONDO:0100122 {source="PMID:20301728", source="PMID:32651481"} ! GNPTAB-mucolipidosis is_a: MONDO:0800088 {source="Orphanet:576", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29670 {source="MONDO:mim2gene_medgen"} ! GNPTAB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5565" xsd:anyURI @@ -208550,7 +208036,7 @@ is_a: MONDO:0019248 {source="https://orcid.org/0000-0002-6601-2165"} ! mucolipid is_a: MONDO:0031422 {source="OMIM:252605"} ! familial mucolipidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009652 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23026 {source="MONDO:mim2gene_medgen"} ! GNPTG +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23026 {source="OMIM:252605"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6021" xsd:anyURI @@ -208599,7 +208085,6 @@ is_a: MONDO:0019248 {source="DC-OMIM:252650", source="NCIT:C84896", source="Orph is_a: MONDO:0031422 {source="OMIM:252650"} ! familial mucolipidosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009653 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0005381 {source="PMID:21502308"} ! iron ion transmembrane transporter activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13356 {source="MONDO:mim2gene_medgen"} ! MCOLN1 [Term] id: MONDO:0009654 @@ -208662,7 +208147,7 @@ is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with sk relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009655 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0004561 ! alpha-N-acetylglucosaminidase activity relationship: disease_has_basis_in_disruption_of GO:0016250 ! N-sulfoglucosamine sulfohydrolase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10818 {source="MONDO:mim2gene_medgen"} ! SGSH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10818 {source="OMIM:252900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5075" xsd:anyURI @@ -208709,7 +208194,6 @@ xref: SCTID:59990008 {source="MONDO:equivalentTo"} xref: UMLS:C0086648 {source="MEDGEN:88601", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018937 {source="DOID:0111394", source="NCIT:C84898", source="Orphanet:79270"} ! mucopolysaccharidosis type 3 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7632 {source="MONDO:mim2gene_medgen"} ! NAGLU property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5075" xsd:anyURI @@ -208757,7 +208241,6 @@ xref: SCTID:75238000 {source="MONDO:equivalentTo"} xref: UMLS:C0086649 {source="MEDGEN:39477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018937 {source="DOID:0111393", source="NCIT:C84899", source="Orphanet:79271"} ! mucopolysaccharidosis type 3 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26527 {source="MONDO:mim2gene_medgen"} ! HGSNAT property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5075" xsd:anyURI @@ -208806,7 +208289,7 @@ xref: UMLS:C0086650 {source="MEDGEN:88602", source="MONDO:equivalentTo", source= is_a: MONDO:0018937 {source="DOID:0111402", source="NCIT:C84900", source="Orphanet:79272"} ! mucopolysaccharidosis type 3 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009658 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4422 {source="MONDO:mim2gene_medgen"} ! GNS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4422 {source="OMIM:252940"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5075" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI @@ -208856,7 +208339,7 @@ intersection_of: MONDO:0019249 ! mucopolysaccharidosis intersection_of: disease_has_basis_in_disruption_of GO:0033844 ! galactose-6-sulfurylase activity relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009659 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0033844 {source="https://orcid.org/0000-0002-6601-2165"} ! galactose-6-sulfurylase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4122 {source="MONDO:mim2gene_medgen"} ! GALNS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4122 {source="OMIM:253000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -208899,7 +208382,6 @@ is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with sk intersection_of: MONDO:0019249 ! mucopolysaccharidosis intersection_of: disease_has_basis_in_disruption_of GO:0004565 ! beta-galactosidase activity relationship: disease_has_basis_in_disruption_of GO:0004565 {source="https://orcid.org/0000-0002-6601-2165"} ! beta-galactosidase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4298 {source="MONDO:mim2gene_medgen"} ! GLB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -208963,7 +208445,7 @@ intersection_of: MONDO:0019249 ! mucopolysaccharidosis intersection_of: disease_has_basis_in_disruption_of GO:0003943 ! N-acetylgalactosamine-4-sulfatase activity relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009661 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/714 {source="MONDO:mim2gene_medgen"} ! ARSB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/714 {source="OMIM:253200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -209025,7 +208507,7 @@ intersection_of: disease_has_basis_in_disruption_of GO:0004566 ! beta-glucuronid relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009662 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0004566 {source="PMID:21723623"} ! beta-glucuronidase activity relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4696 {source="MONDO:mim2gene_medgen"} ! GUSB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4696 {source="OMIM:253220"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -209078,7 +208560,7 @@ is_a: MONDO:0021147 {source="Orphanet:2576", source="Orphanet:2576/inferred"} ! is_a: MONDO:0100306 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of defective peroxisome oxidative status relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009664 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:253250", source="Orphanet:2576"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7523 {source="MONDO:mim2gene_medgen"} ! TRIM37 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7523 {source="OMIM:253250"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/95/mulibrey-nanism" xsd:anyURI {source="GARD:0000095"} @@ -209125,7 +208607,7 @@ is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0047708 ! biotinidase activity relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009665 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1122 {source="MONDO:mim2gene_medgen"} ! BTD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1122 {source="OMIM:253260"} [Term] id: MONDO:0009666 @@ -209172,7 +208654,7 @@ is_a: MONDO:0019242 ! inborn disorder of branched-chain amino acid metabolism is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009666 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0018271 ! biotin-protein ligase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4976 {source="MONDO:mim2gene_medgen"} ! HLCS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4976 {source="OMIM:253270"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency" xsd:anyURI {source="GARD:0002721"} property_value: seeAlso "https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#biotinidase" xsd:anyURI @@ -209201,7 +208683,6 @@ is_a: MONDO:0000171 {source="OMIM:253280", source="Orphanet:899/btnt"} ! muscula is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-eye-brain disease is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C126740"} ! muscular dystrophy is_a: MONDO:0700068 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19139 {source="MONDO:mim2gene_medgen"} ! POMGNT1 [Term] id: MONDO:0009668 @@ -209294,7 +208775,6 @@ xref: SCTID:64383006 {source="MONDO:equivalentTo", source="DOID:0060160", source xref: UMLS:C5848259 {source="MEDGEN:1845578", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001516 {source="DOID:0060160", source="DOID:13137/inferred", source="MONDO:Redundant", source="NCIT:C98670"} ! spinal muscular atrophy is_a: MONDO:0019079 {source="Orphanet:83330"} ! proximal spinal muscular atrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11117 {source="MONDO:mim2gene_medgen"} ! SMN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6462" xsd:anyURI @@ -209334,7 +208814,6 @@ is_a: MONDO:0017436 {source="DC-OMIM:253310", source="DOID:0060559", source="MON intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4315 ! GLE1 relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:1486", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic respiratory or mediastinal malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4315 {source="MONDO:mim2gene_medgen"} ! GLE1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -209417,7 +208896,7 @@ xref: UMLS:C0152109 {source="MEDGEN:101816", source="MONDO:equivalentTo", source is_a: MONDO:0001516 {source="DOID:12376/inferred", source="MONDO:Redundant", source="NCIT:C118847"} ! spinal muscular atrophy is_a: MONDO:0019079 {source="Orphanet:83419"} ! proximal spinal muscular atrophy is_a: MONDO:0024237 {source="MONDO:indirect"} ! inherited neurodegenerative disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11117 {source="OMIM:253400"} ! SMN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11118 {source="OMIM:253400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6462" xsd:anyURI @@ -209464,7 +208943,6 @@ xref: SCTID:128212001 {source="MONDO:equivalentTo"} xref: UMLS:C0393538 {source="MEDGEN:95975", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019079 {source="Orphanet:83418"} ! proximal spinal muscular atrophy is_a: MONDO:0024237 {source="MONDO:indirect"} ! inherited neurodegenerative disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11117 {source="MONDO:mim2gene_medgen"} ! SMN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -209519,7 +208997,6 @@ is_a: MONDO:0015152 {source="DOID:0110275", source="MONDO:Redundant", source="OM is_a: MONDO:0016971 {source="DOID:0110275/inferred", source="MESH:C535895", source="MONDO:Redundant", source="NCIT:C142079", source="Orphanet:267/inferred"} ! limb-girdle muscular dystrophy intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1480 ! CAPN3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1480 {source="MONDO:mim2gene_medgen"} ! CAPN3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -209558,7 +209035,6 @@ is_a: MONDO:0016145 {source="Orphanet:268"} ! qualitative or quantitative defect is_a: MONDO:0016971 {source="DOID:0110276/inferred", source="MESH:C535899", source="MONDO:Redundant", source="NCIT:C142080", source="Orphanet:268/inferred"} ! limb-girdle muscular dystrophy intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3097 ! DYSF -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3097 {source="MONDO:mim2gene_medgen"} ! DYSF property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -209606,8 +209082,8 @@ is_a: MONDO:0016143 {source="Orphanet:353"} ! qualitative or quantitative defect is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0019056 ! neuromuscular disease intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10809 ! SGCG -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10809 {source="MONDO:mim2gene_medgen"} ! SGCG +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10809 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10809 {source="OMIM:253700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -209648,7 +209124,6 @@ is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-ey is_a: MONDO:0020121 {source="DOID:0050559/inferred", source="NCIT:C126741", source="OMIM:253800/inferred", source="Orphanet:272/inferred"} ! muscular dystrophy is_a: MONDO:0700067 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKTN relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3622 {source="MONDO:mim2gene_medgen"} ! FKTN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -209765,7 +209240,6 @@ is_a: MONDO:0015152 {source="DOID:0110282", source="MONDO:Redundant", source="OM is_a: MONDO:0016153 {source="Orphanet:1878"} ! qualitative or quantitative defects of TRIM32 intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16380 ! TRIM32 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16380 {source="MONDO:mim2gene_medgen"} ! TRIM32 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -209938,10 +209412,10 @@ xref: SCTID:230670003 {source="MONDO:equivalentTo"} xref: UMLS:C0393929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140751"} is_a: MONDO:0018940 {source="DOID:0110671", source="MONDO:0009689/inferred", source="MONDO:Redundant", source="NCIT:C132292", source="OMIM:254210"} ! congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1912 ! CHAT +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1912 relationship: excluded_subClassOf MONDO:0009688 {source="MESH:C535759", source="https://orcid.org/0000-0001-5208-3432"} ! myasthenia gravis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1912 {source="MONDO:mim2gene_medgen"} ! CHAT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1912 {source="OMIM:254210"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9689/congenital-myasthenic-syndrome-with-episodic-apnea" xsd:anyURI {source="GARD:0009689"} @@ -209991,7 +209465,6 @@ is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital mya intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26594 ! DOK7 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26594 {source="MONDO:mim2gene_medgen"} ! DOK7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6205" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3855/muscular-dystrophy-congenital-merosin-positive" xsd:anyURI {source="GARD:0003855"} @@ -210193,7 +209666,6 @@ xref: SCTID:234433009 {source="MONDO:equivalentTo"} xref: UMLS:C0398595 {source="MEDGEN:96015", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015978 {source="Orphanet:2587"} ! functional neutrophil defect is_a: MONDO:0024626 ! defective phagocytic cell engulfment -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7218 {source="MONDO:mim2gene_medgen"} ! MPO property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3868/myeloperoxidase-deficiency" xsd:anyURI {source="GARD:0003868"} [Term] @@ -210359,7 +209831,7 @@ is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder is_a: MONDO:0020074 {source="DC-OMIM:254800", source="DOID:3535", source="MESH:D020194", source="OMIM:254800", source="Orphanet:308"} ! progressive myoclonus epilepsy is_a: MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! variable age onset epilepsy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009698 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2482 {source="MONDO:mim2gene_medgen"} ! CSTB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2482 {source="OMIM:254800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -210387,7 +209859,7 @@ xref: Orphanet:163696 {source="MONDO:equivalentTo", source="OMIM:254900"} xref: SCTID:764453009 {source="MONDO:equivalentTo"} xref: UMLS:C0751779 {source="MEDGEN:155629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020074 {source="DC-OMIM:254900", source="DOID:0111444", source="OMIM:254900"} ! progressive myoclonus epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1665 {source="MONDO:mim2gene_medgen"} ! SCARB2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1665 {source="OMIM:254900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -210439,7 +209911,7 @@ xref: SCTID:240095001 {source="https://orcid.org/0009-0002-1597-2198", source="M xref: UMLS:C4310822 {source="MEDGEN:934789", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005336 {source="https://orcid.org/0000-0002-4142-7153"} ! myopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009703 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24671 {source="MONDO:mim2gene_medgen"} ! FLAD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24671 {source="OMIM:255100"} [Term] id: MONDO:0009704 @@ -210475,7 +209947,6 @@ xref: Orphanet:157 {source="OMIM:255110"} xref: Orphanet:228302 {source="OMIM:255110", source="MONDO:equivalentTo"} xref: UMLS:C1833508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371584"} is_a: MONDO:0015515 {source="DC-OMIM:255110", source="Orphanet:228302"} ! carnitine palmitoyltransferase II deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2330 {source="MONDO:mim2gene_medgen"} ! CPT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -210531,10 +210002,10 @@ xref: SCTID:238001003 {source="MONDO:equivalentTo"} xref: UMLS:C1829703 {source="MEDGEN:316820", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017716 {source="MONDO:Redundant", source="Orphanet:156"} ! disorder of carnitine cycle and carnitine transport intersection_of: MONDO:0017716 ! disorder of carnitine cycle and carnitine transport -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2328 ! CPT1A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2328 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009705 {source="MONDO:CLINGEN"} relationship: disease_disrupts GO:0019395 ! fatty acid oxidation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2328 {source="MONDO:mim2gene_medgen"} ! CPT1A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2328 {source="OMIM:255120"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1-deficiency" xsd:anyURI {source="GARD:0001120"} @@ -210567,7 +210038,7 @@ xref: SCTID:699268002 {source="MONDO:equivalentTo"} xref: UMLS:C1850718 {source="MEDGEN:342573", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020123 {source="Orphanet:43115"} ! metabolic myopathy is_a: MONDO:0044970 ! mitochondrial disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29882 {source="MONDO:mim2gene_medgen"} ! ISCU +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29882 {source="OMIM:255125"} [Term] id: MONDO:0009707 @@ -210599,7 +210070,6 @@ xref: Orphanet:636970 {source="MONDO:equivalentTo"} xref: UMLS:C1850709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340603"} is_a: MONDO:0019952 {source="OMIM:255160"} ! congenital myopathy relationship: excluded_subClassOf MONDO:0018889 {source="Orphanet:53698/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! hyaline body myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="MONDO:mim2gene_medgen"} ! MYH7 [Term] id: MONDO:0009709 @@ -210626,8 +210096,8 @@ xref: UMLS:C0410204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015705 {source="DOID:0111220", source="Orphanet:169186/btnt"} ! autosomal recessive centronuclear myopathy is_a: MONDO:0018947 {source="MONDO:Redundant", source="OMIM:255200"} ! centronuclear myopathy intersection_of: MONDO:0018947 ! centronuclear myopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1052 ! BIN1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1052 {source="MONDO:mim2gene_medgen"} ! BIN1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1052 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1052 {source="OMIM:255200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -210730,7 +210200,6 @@ is_a: MONDO:0018948 {source="Orphanet:98905"} ! multiminicore myopathy is_a: MONDO:0019952 {source="OMIM:255320"} ! congenital myopathy is_a: MONDO:0100150 {source="https://clinicalgenome.org/affiliation/40031/"} ! RYR1-related myopathy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10483 {source="MONDO:mim2gene_medgen"} ! RYR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -210774,7 +210243,6 @@ xref: Orphanet:289380 {source="MONDO:equivalentTo", source="OMIM:255600"} xref: SCTID:763895001 {source="MONDO:equivalentTo"} xref: UMLS:C1850671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338098"} is_a: MONDO:0100225 {source="PMID:21691338", source="https://clinicalgenome.org/affiliation/40031/"} ! collagen 6-related myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2212 {source="MONDO:mim2gene_medgen"} ! COL6A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2361" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0006012 "2024-05-01" xsd:string @@ -210800,7 +210268,6 @@ xref: UMLS:C0751360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0009710 {source="DC-OMIM:255700", source="MONDO:Redundant"} ! Thomsen and Becker disease intersection_of: MONDO:0009710 ! Thomsen and Becker disease intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2019 {source="MONDO:mim2gene_medgen"} ! CLCN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -210922,7 +210389,6 @@ xref: SCTID:233855002 {source="MONDO:equivalentTo"} xref: UMLS:C2931787 {source="MEDGEN:419902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0021209 {source="MONDO:Redundant", source="Orphanet:615"} ! heart neoplasm -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9388 {source="MONDO:mim2gene_medgen"} ! PRKAR1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/139/atrial-myxoma-familial" xsd:anyURI {source="GARD:0000139"} @@ -210956,6 +210422,7 @@ xref: UMLS:C1850627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000001 {source="OMIM:301026"} ! disease is_a: MONDO:0015161 {source="Orphanet:2662"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:2662", source="Orphanet:2662/inferred"} ! disorder of development or morphogenesis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4452 {source="OMIM:301026"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -211017,7 +210484,7 @@ is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder is_a: MONDO:0019952 {source="DOID:0060346", source="OMIM:255310", source="OMIM:255995", source="Orphanet:168572"} ! congenital myopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009722 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28423 {source="MONDO:mim2gene_medgen"} ! STAC3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28423 {source="OMIM:255995"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1377" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -211135,7 +210602,6 @@ is_a: MONDO:0018958 {source="DOID:0110928", source="MESH:C538349", source="MONDO intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7720 ! NEB relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009725 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7720 {source="MONDO:mim2gene_medgen"} ! NEB [Term] id: MONDO:0009726 @@ -211239,7 +210705,6 @@ is_a: MONDO:0000389 {source="DC-OMIM:256050", source="OMIM:256050"} ! atelosteog relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009727 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:56304", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:56304", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10994 {source="MONDO:mim2gene_medgen"} ! SLC26A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI @@ -211285,7 +210750,6 @@ intersection_of: MONDO:0019005 ! nephronophthisis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7905 ! NPHP1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009728 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:256100", source="Orphanet:93592"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7905 {source="MONDO:mim2gene_medgen"} ! NPHP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -211381,8 +210845,8 @@ xref: UMLS:C0403399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002350 {source="DOID:0080390", source="OMIM:256300"} ! familial nephrotic syndrome is_a: MONDO:0005377 {source="DC-OMIM:256300", source="MONDO:0009732/inferred", source="MONDO:0019987-obsoleted", source="MONDO:Redundant", source="NCIT:C122795", source="OMIM:256300"} ! nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7908 ! NPHS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7908 {source="MONDO:mim2gene_medgen"} ! NPHS1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7908 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7908 {source="OMIM:256300"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type" xsd:anyURI {source="GARD:0001500"} [Term] @@ -211413,7 +210877,6 @@ is_a: MONDO:0002350 {source="DOID:0080383", source="NCIT:C121198", source="OMIM: is_a: MONDO:0005377 {source="MONDO:Redundant", source="NCIT:C121198/inferred", source="OMIM:256370"} ! nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12796 ! WT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12796 {source="MONDO:mim2gene_medgen"} ! WT1 [Term] id: MONDO:0009734 @@ -211446,7 +210909,6 @@ xref: UMLS:C2931832 {source="MEDGEN:419505", source="MONDO:equivalentTo", source is_a: MONDO:0005803 {source="DC-OMIM:256450", source="DOID:0070219", source="MONDO:Redundant", source="OMIM:256450"} ! hyperinsulinemic hypoglycemia intersection_of: MONDO:0005803 ! hyperinsulinemic hypoglycemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/59 ! ABCC8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/59 {source="MONDO:mim2gene_medgen"} ! ABCC8 [Term] id: MONDO:0009735 @@ -211497,7 +210959,7 @@ relationship: disease_has_feature HP:0000499 {source="Orphanet:634"} ! Abnormal relationship: disease_has_feature HP:0000534 {source="Orphanet:634"} ! Abnormal eyebrow morphology relationship: excluded_subClassOf MONDO:0020189 {source="Orphanet:634", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow/eyelashes structural anomaly relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:256500", source="Orphanet:634"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15464 {source="MONDO:mim2gene_medgen"} ! SPINK5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15464 {source="OMIM:256500"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome" xsd:anyURI {source="GARD:0007182"} [Term] @@ -211529,7 +210991,6 @@ xref: UMLS:C4551478 {source="MEDGEN:1633287", source="MONDO:equivalentTo", sourc is_a: MONDO:0000179 {source="DC-OMIM:256520", source="MONDO:Redundant", source="OMIM:256520", source="Orphanet:583607"} ! Neu-Laxova syndrome intersection_of: MONDO:0000179 ! Neu-Laxova syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8923 ! PHGDH -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8923 {source="MONDO:mim2gene_medgen"} ! PHGDH [Term] id: MONDO:0009737 @@ -211574,7 +211035,7 @@ is_a: MONDO:0019251 {source="Orphanet:351"} ! oligosaccharidosis is_a: MONDO:0800088 {source="Orphanet:351", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009737 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9251 {source="MONDO:mim2gene_medgen"} ! CTSA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9251 {source="OMIM:256540"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3953/galactosialidosis" xsd:anyURI {source="GARD:0003953"} @@ -211651,7 +211112,6 @@ relationship: excluded_subClassOf MONDO:0005328 {source="Orphanet:87876", source relationship: excluded_subClassOf MONDO:0005381 {source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:87876", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:87876", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7758 {source="MONDO:mim2gene_medgen"} ! NEU1 property_value: IAO:0000233 "https://github.com/monarch-initiative/monarch-disease-ontology/issues/227" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -211806,13 +211266,13 @@ xref: SCTID:720830009 {source="MONDO:equivalentTo"} xref: UMLS:C1850451 {source="MEDGEN:340540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016295 {source="DOID:0110721", source="MONDO:Redundant", source="NCIT:C85861", source="OMIM:256730", source="Orphanet:228329", source="Orphanet:228329/inferred"} ! neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9325 ! PPT1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9325 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009744 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0015674 {source="Orphanet:168491/btnt", source="Orphanet:228329", source="https://orcid.org/0000-0001-5208-3432"} ! late infantile neuronal ceroid lipofuscinosis relationship: excluded_subClassOf MONDO:0019260 {source="Orphanet:228329", source="Orphanet:79262/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! adult neuronal ceroid lipofuscinosis relationship: excluded_subClassOf MONDO:0019261 {source="Orphanet:228329", source="Orphanet:79263/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! infantile neuronal ceroid lipofuscinosis relationship: excluded_subClassOf MONDO:0019262 {source="Orphanet:228329", source="Orphanet:79264/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! juvenile neuronal ceroid lipofuscinosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9325 {source="MONDO:mim2gene_medgen"} ! PPT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9325 {source="OMIM:256730"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2665" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1219/ceroid-lipofuscinosis-neuronal-1" xsd:anyURI {source="GARD:0001219"} @@ -211854,8 +211314,8 @@ xref: UMLS:C1850442 {source="MEDGEN:376792", source="MONDO:equivalentTo", source is_a: MONDO:0015674 {source="Orphanet:228360"} ! late infantile neuronal ceroid lipofuscinosis is_a: MONDO:0016295 {source="DOID:0110728", source="MONDO:Redundant", source="OMIM:256731", source="Orphanet:228360", source="Orphanet:228360/inferred"} ! neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2076 ! CLN5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2076 {source="MONDO:mim2gene_medgen"} ! CLN5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2076 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2076 {source="OMIM:256731"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5" xsd:anyURI {source="GARD:0001223"} [Term] @@ -211904,9 +211364,9 @@ xref: SCTID:62985007 {source="DOID:0070146", source="MONDO:equivalentTo"} xref: UMLS:C0020074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6915"} is_a: MONDO:0015364 {source="DOID:0070146", source="OMIM:256800", source="Orphanet:642/inferred"} ! hereditary sensory and autonomic neuropathy intersection_of: MONDO:0015364 ! hereditary sensory and autonomic neuropathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8031 ! NTRK1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8031 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009746 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8031 {source="MONDO:mim2gene_medgen"} ! NTRK1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8031 {source="OMIM:256800"} [Term] id: MONDO:0009747 @@ -211935,7 +211395,6 @@ xref: UMLS:C1850406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004069 {source="DOID:0080125", source="MESH:C538344", source="OMIM:256810", source="OMIM:256810/inferred", source="Orphanet:255229/inferred"} ! inborn mitochondrial metabolism disorder is_a: MONDO:0018158 {source="MONDO:Redundant", source="OMIM:256810", source="Orphanet:255229/inferred"} ! mitochondrial DNA depletion syndrome is_a: MONDO:0100512 {source="Orphanet:255229", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome, hepatocerebral form -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7224 {source="MONDO:mim2gene_medgen"} ! MPV17 [Term] id: MONDO:0009748 @@ -211963,7 +211422,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditar is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder is_a: MONDO:0005244 {source="https://orcid.org/0000-0002-4142-7153"} ! peripheral neuropathy is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1618 {source="MONDO:mim2gene_medgen"} ! CCT5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1618 {source="OMIM:256840"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -212000,9 +211459,9 @@ xref: UMLS:C1850386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000128 {source="DC-OMIM:256850", source="MONDO:Redundant", source="OMIM:256850"} ! giant axonal neuropathy is_a: MONDO:0020127 {source="Orphanet:643"} ! hereditary peripheral neuropathy intersection_of: MONDO:0000128 ! giant axonal neuropathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4137 ! GAN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4137 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009749 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4137 {source="MONDO:mim2gene_medgen"} ! GAN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4137 {source="OMIM:256850"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2532" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -212129,7 +211588,6 @@ is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0019255 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! sphingolipidosis is_a: MONDO:0100464 {source="https://clinicalgenome.org/affiliation/40110/"} ! acid sphingomyelinase deficiency relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:257200", source="Orphanet:77292"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11120 {source="MONDO:mim2gene_medgen"} ! SMPD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4984" xsd:anyURI [Term] @@ -212165,7 +211623,6 @@ is_a: MONDO:0001982 {source="DOID:0070113", source="NCIT:C126864/inferred"} ! Ni is_a: MONDO:0018982 ! Niemann-Pick disease type C relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009757 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:257220"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7897 {source="MONDO:mim2gene_medgen"} ! NPC1 [Term] id: MONDO:0009758 @@ -212192,10 +211649,10 @@ xref: UMLS:C1850362 {source="MEDGEN:342484", source="MONDO:equivalentTo", source is_a: MONDO:0016293 {source="DC-OMIM:257270", source="DOID:0110865", source="MONDO:Redundant", source="OMIM:257270"} ! congenital stationary night blindness is_a: MONDO:0800397 {source="https://clinicalgenome.org/affiliation/40072/"} ! GRM6-related retinopathy intersection_of: MONDO:0016293 ! congenital stationary night blindness -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4598 ! GRM6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4598 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4598 {source="MONDO:mim2gene_medgen"} ! GRM6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4598 {source="OMIM:257270"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI @@ -212225,7 +211682,6 @@ intersection_of: MONDO:0000141 ! mosaic variegated aneuploidy syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1149 ! BUB1B relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009759 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1149 {source="MONDO:mim2gene_medgen"} ! BUB1B [Term] id: MONDO:0009760 @@ -212258,7 +211714,6 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0015204 {source="Orphanet:89844"} ! microlissencephaly is_a: MONDO:0018838 {source="DOID:0060902", source="MONDO:Redundant", source="OMIM:257320", source="Orphanet:89844/inferred"} ! lissencephaly spectrum disorders is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9957 {source="MONDO:mim2gene_medgen"} ! RELN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -212440,7 +211895,6 @@ xref: UMLS:C2749477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0008111 {source="MONDO:Redundant", source="Orphanet:2710/btnt"} ! oculodentodigital dysplasia intersection_of: MONDO:0008111 ! oculodentodigital dysplasia intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 {source="MONDO:mim2gene_medgen"} ! GJA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -212498,8 +211952,8 @@ xref: Orphanet:293843 {source="OMIM:257920"} xref: UMLS:C0796059 {source="MEDGEN:167100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017398 {source="DC-OMIM:257920", source="DOID:0060575", source="EFO:1001978", source="MONDO:Redundant", source="OMIM:257920"} ! 3MC syndrome intersection_of: MONDO:0017398 ! 3MC syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6901 ! MASP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6901 {source="MONDO:mim2gene_medgen"} ! MASP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6901 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6901 {source="OMIM:257920"} [Term] id: MONDO:0009771 @@ -212576,7 +212030,6 @@ xref: UMLS:C0796093 {source="MEDGEN:208666", source="MONDO:equivalentTo", source is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0019287 {source="MESH:C537742", source="Orphanet:2721"} ! ectodermal dysplasia syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:257980", source="Orphanet:2721"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13829 {source="MONDO:mim2gene_medgen"} ! WNT10A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3293" xsd:anyURI [Term] @@ -212645,7 +212098,6 @@ is_a: MONDO:0016293 {source="DC-OMIM:258100", source="DOID:0110712", source="OMI intersection_of: MONDO:0019152 ! Oguchi disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10521 ! SAG relationship: excluded_subClassOf MONDO:0004587 {source="DOID:0110712", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary night blindness -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10521 {source="MONDO:mim2gene_medgen"} ! SAG [Term] id: MONDO:0009776 @@ -212666,6 +212118,7 @@ xref: Orphanet:217034 {source="MONDO:relatedTo", source="OMIM:258150"} xref: SCTID:236803007 {source="MONDO:equivalentTo"} xref: UMLS:C0403810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140793"} is_a: MONDO:0004983 {source="DC-OMIM:258150", source="DOID:0070188", source="OMIM:258150"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11490 {source="OMIM:258150"} [Term] id: MONDO:0009777 @@ -212743,7 +212196,7 @@ is_a: MONDO:0006025 {source="DOID:0080844"} ! autosomal recessive disease is_a: MONDO:0017136 {source="DC-OMIM:258315", source="DOID:0080844", source="MONDO:Redundant", source="OMIM:258315", source="Orphanet:93329"} ! omodysplasia intersection_of: MONDO:0017136 ! omodysplasia intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4454 {source="MONDO:mim2gene_medgen"} ! GPC6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4454 {source="OMIM:258315"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -212827,7 +212280,6 @@ is_a: MONDO:0016810 {source="MONDO:Redundant", source="Orphanet:254886/btnt"} ! intersection_of: MONDO:0016810 ! autosomal recessive progressive external ophthalmoplegia intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9179 ! POLG -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9179 {source="MONDO:mim2gene_medgen"} ! POLG property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1191/progressive-external-ophthalmoplegia-autosomal-recessive-1" xsd:anyURI {source="GARD:0001191"} [Term] @@ -212864,7 +212316,7 @@ xref: SCTID:254068007 {source="MONDO:equivalentTo"} xref: UMLS:C0432219 {source="MONDO:equivalentTo", source="MEDGEN:140927", source="MONDO:MEDGEN"} is_a: MONDO:0019694 {source="Orphanet:2746"} ! spondylodysplastic dysplasia is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6080 {source="MONDO:mim2gene_medgen"} ! INPPL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6080 {source="OMIM:258480"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4098/opsismodysplasia" xsd:anyURI {source="GARD:0004098"} @@ -212935,7 +212387,6 @@ xref: UMLS:C0574084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017359 {source="DC-OMIM:258501", source="DOID:0110004", source="MONDO:Redundant", source="OMIM:258501", source="Orphanet:67047"} ! 3-methylglutaconic aciduria intersection_of: MONDO:0017359 ! 3-methylglutaconic aciduria intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8142 ! OPA3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8142 {source="MONDO:mim2gene_medgen"} ! OPA3 [Term] id: MONDO:0009788 @@ -212958,7 +212409,6 @@ xref: MEDGEN:338294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:258660 {source="MONDO:equivalentTo"} xref: UMLS:C1847711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338294"} is_a: MONDO:0020573 {source="OMIM:258660"} ! inherited disease susceptibility -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4439 {source="MONDO:mim2gene_medgen"} ! GP1BA relationship: predisposes_towards MONDO:0000499 ! non-arteritic anterior ischemic optic neuropathy [Term] @@ -213087,7 +212537,6 @@ is_a: MONDO:0015375 {source="DC-OMIM:258860", source="DOID:0060374", source="MES is_a: MONDO:0015929 {source="Orphanet:2753"} ! thoracic malformation is_a: MONDO:0019691 {source="Orphanet:2753", source="PMID:31633310"} ! short rib dysplasia relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2753", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24519 {source="MONDO:mim2gene_medgen"} ! TCTN3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4" xsd:anyURI {source="GARD:0000816"} @@ -213187,7 +212636,7 @@ is_a: MONDO:0017356 {source="Orphanet:414"} ! inborn disorder of ornithine metab is_a: MONDO:0019118 {source="Orphanet:414", source="https://orcid.org/0000-0001-5208-3432"} ! inherited retinal dystrophy is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009796 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8091 {source="MONDO:mim2gene_medgen"} ! OAT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8091 {source="OMIM:258870"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6556/gyrate-atrophy-of-choroid-and-retina" xsd:anyURI {source="GARD:0006556"} @@ -213239,7 +212688,7 @@ xref: UMLS:C0220987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019052 {source="DOID:0050833/inferred", source="NCIT:C98944", source="Orphanet:30/inferred"} ! inborn errors of metabolism is_a: MONDO:0019238 {source="DOID:0050833", source="Orphanet:30"} ! inborn disorder of pyrimidine metabolism is_a: MONDO:0020112 {source="Orphanet:30"} ! vitamin B12- and folate-independent constitutional megaloblastic anemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12563 {source="MONDO:mim2gene_medgen"} ! UMPS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12563 {source="OMIM:258900"} [Term] id: MONDO:0009798 @@ -213266,7 +212715,7 @@ xref: SCTID:726709001 {source="MONDO:equivalentTo"} xref: UMLS:C0796121 {source="MEDGEN:162911", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3042", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13503 {source="MONDO:mim2gene_medgen"} ! ZBTB20 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13503 {source="OMIM:259050"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6101" xsd:anyURI @@ -213435,8 +212884,8 @@ xref: UMLS:C1850169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019019 {source="DC-OMIM:259440", source="DOID:0110349", source="MESH:C564921", source="MONDO:Redundant", source="OMIM:259440"} ! osteogenesis imperfecta is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0019019 ! osteogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9255 ! PPIB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9255 {source="MONDO:mim2gene_medgen"} ! PPIB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9255 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9255 {source="OMIM:259440"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -213461,7 +212910,6 @@ is_a: MONDO:0017195 {source="DC-OMIM:259450", source="MONDO:Redundant", source=" intersection_of: MONDO:0017195 ! Bruck syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18169 ! FKBP10 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18169 {source="MONDO:mim2gene_medgen"} ! FKBP10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -213541,7 +212989,7 @@ xref: OMIM:259600 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="NCIT:C123437"} ! syndromic disease is_a: MONDO:0018298 {source="https://orcid.org/0000-0001-5493-2602"} ! multicentric osteolysis-nodulosis-arthropathy spectrum is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7166 {source="MONDO:mim2gene_medgen"} ! MMP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7166 {source="OMIM:259600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5784" xsd:anyURI @@ -213695,10 +213143,10 @@ xref: UMLS:C1850127 {source="MEDGEN:376708", source="MONDO:equivalentTo", source is_a: MONDO:0017198 {source="DOID:0110942", source="MONDO:0009815/inferred", source="MONDO:Redundant", source="OMIM:259700", source="PMID:31633310"} ! osteopetrosis is_a: MONDO:0019026 {source="MONDO:Redundant", source="OMIM:259700", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11647 ! TCIRG1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11647 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009815 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11647 {source="MONDO:mim2gene_medgen"} ! TCIRG1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11647 {source="OMIM:259700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2579/osteopetrosis-autosomal-recessive-1" xsd:anyURI {source="GARD:0002579"} @@ -213734,9 +213182,9 @@ xref: UMLS:C1850126 {source="MONDO:equivalentTo", source="MEDGEN:342420", source is_a: MONDO:0017198 {source="DOID:0110943", source="MONDO:Redundant", source="OMIM:259710", source="PMID:31633310"} ! osteopetrosis is_a: MONDO:0019026 {source="MONDO:Redundant", source="OMIM:259710", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11926 ! TNFSF11 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11926 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11926 {source="MONDO:mim2gene_medgen"} ! TNFSF11 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11926 {source="OMIM:259710"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4157/osteopetrosis-autosomal-recessive-2" xsd:anyURI {source="GARD:0004157"} @@ -213769,9 +213217,9 @@ is_a: MONDO:0010866 ! infantile osteopetrosis with neuroaxonal dysplasia is_a: MONDO:0017198 {source="DOID:0110939", source="MONDO:Redundant", source="OMIM:259720", source="PMID:31633310"} ! osteopetrosis is_a: MONDO:0019026 {source="OMIM:259720"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0017198 ! osteopetrosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21652 ! OSTM1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21652 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21652 {source="MONDO:mim2gene_medgen"} ! OSTM1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21652 {source="OMIM:259720"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4153/osteopetrosis-autosomal-recessive-5" xsd:anyURI {source="GARD:0004153"} @@ -213818,9 +213266,9 @@ xref: UMLS:C0345407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017198 {source="DC-OMIM:259730", source="DOID:0110941", source="MONDO:Redundant", source="OMIM:259730", source="Orphanet:2785", source="PMID:31633310"} ! osteopetrosis is_a: MONDO:0019026 {source="OMIM:259730"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0017198 ! osteopetrosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1373 ! CA2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1373 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1373 {source="MONDO:mim2gene_medgen"} ! CA2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1373 {source="OMIM:259730"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3" xsd:anyURI {source="GARD:0004154"} @@ -213868,7 +213316,6 @@ relationship: disease_has_feature HP:0004349 {source="Orphanet:2788"} ! Reduced relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2788", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2788", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:259770", source="Orphanet:2788"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 {source="MONDO:mim2gene_medgen"} ! LRP5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI @@ -213904,7 +213351,7 @@ xref: Orphanet:1832 {source="MONDO:equivalentTo", source="OMIM:259775"} xref: UMLS:C1850106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342416"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019702 {source="Orphanet:1832", source="PMID:31633310"} ! neonatal osteosclerotic dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22140 {source="MONDO:mim2gene_medgen"} ! FAM20C +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22140 {source="OMIM:259775"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4966" xsd:anyURI @@ -213978,10 +213425,10 @@ xref: UMLS:C0268164 {source="MEDGEN:75658", source="MONDO:equivalentTo", source= is_a: MONDO:0002474 {source="DC-OMIM:259900", source="DOID:0111670", source="MESH:C536414", source="MONDO:Redundant", source="NCIT:C123212", source="OMIM:259900", source="Orphanet:93598"} ! primary hyperoxaluria is_a: MONDO:0100278 {source="PMID:16756494", source="https://www.clinicalgenome.org/affiliation/40049/"} ! alanine glyoxylate aminotransferase deficiency intersection_of: MONDO:0002474 ! primary hyperoxaluria -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/341 ! AGXT +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/341 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0017753 {source="Orphanet:93598", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/341 {source="MONDO:mim2gene_medgen"} ! AGXT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/341 {source="OMIM:259900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2835/primary-hyperoxaluria-type-1" xsd:anyURI {source="GARD:0002835"} @@ -214022,8 +213469,8 @@ xref: SCTID:40951006 {source="MONDO:equivalentTo"} xref: UMLS:C0268165 {source="MEDGEN:120616", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002474 {source="DC-OMIM:260000", source="DOID:0111671", source="MESH:C536415", source="MONDO:Redundant", source="NCIT:C123213", source="OMIM:260000", source="Orphanet:93599"} ! primary hyperoxaluria intersection_of: MONDO:0002474 ! primary hyperoxaluria -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4570 ! GRHPR -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4570 {source="MONDO:mim2gene_medgen"} ! GRHPR +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4570 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4570 {source="OMIM:260000"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2836/primary-hyperoxaluria-type-2" xsd:anyURI {source="GARD:0002836"} [Term] @@ -214059,7 +213506,7 @@ is_a: MONDO:0019241 {source="Orphanet:33572"} ! inborn disorder of the gamma-glu is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0017168 ! 5-oxoprolinase (ATP-hydrolyzing) activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8149 {source="MONDO:mim2gene_medgen"} ! OPLAH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8149 {source="OMIM:260005"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000589 "5-oxoprolinase deficiency (disease)" xsd:string @@ -214139,7 +213586,7 @@ xref: OMIM:260300 {source="MONDO:equivalentTo", source="Orphanet:171695", source xref: Orphanet:171695 {source="MONDO:equivalentTo", source="OMIM:260300"} xref: UMLS:C1850100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337969"} is_a: MONDO:0005180 {source="DOID:0060372/inferred", source="MONDO:Redundant", source="OMIM:260300"} ! Parkinson disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13586 {source="MONDO:mim2gene_medgen"} ! FBXO7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13586 {source="OMIM:260300"} relationship: predisposes_towards MONDO:0017279 {source="DOID:0060372"} ! young-onset Parkinson disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -214395,7 +213842,6 @@ is_a: MONDO:0044764 {source="MONDO:Redundant", source="NCIT:C3698"} ! benign cho intersection_of: MONDO:0002363 ! papilloma intersection_of: disease_has_location UBERON:0001886 ! choroid plexus relationship: has_characteristic MONDO:0024491 {source="NCIT:C3698"} ! tumor grade 1, general grading system -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11998 {source="MONDO:mim2gene_medgen"} ! TP53 [Term] id: MONDO:0009838 @@ -214449,7 +213895,6 @@ xref: Orphanet:683 {source="OMIM:260540"} xref: Orphanet:99750 {source="OMIM:260540"} xref: UMLS:C1850077 {source="MEDGEN:342410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020488 {source="Orphanet:240085"} ! atypical progressive supranuclear palsy syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6893 {source="MONDO:mim2gene_medgen"} ! MAPT property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -214493,6 +213938,7 @@ xref: UMLS:C1850055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:2836"} ! inherited neurodegenerative disorder relationship: excluded_subClassOf MONDO:0015650 {source="Orphanet:2836", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12309 {source="OMIM:260565"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4264/peho-syndrome" xsd:anyURI {source="GARD:0004264"} @@ -214544,8 +213990,8 @@ xref: UMLS:C1850053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017226 {source="Orphanet:280293"} ! Pelizaeus-Merzbacher-like disease is_a: MONDO:0019046 {source="DOID:0060790", source="DOID:0060790/inferred", source="MONDO:Redundant", source="OMIM:260600", source="Orphanet:280293/inferred"} ! leukodystrophy intersection_of: MONDO:0019046 ! leukodystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10648 ! AIMP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10648 {source="MONDO:mim2gene_medgen"} ! AIMP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10648 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10648 {source="OMIM:260600"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4266/leukodystrophy-hypomyelinating-3" xsd:anyURI {source="GARD:0004266"} [Term] @@ -214596,7 +214042,7 @@ xref: UMLS:C1850040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019713 {source="PMID:31633310", source="https://orcid.org/0000-0002-5002-8648"} ! non-syndromic limb reduction defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11594 {source="MONDO:mim2gene_medgen"} ! TBX15 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11594 {source="OMIM:260660"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -214630,7 +214076,7 @@ xref: SCTID:190764000 {source="MONDO:equivalentTo"} xref: UMLS:C0268162 {source="MEDGEN:78646", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018605 {source="Orphanet:2843"} ! disorders of pentose/polyol metabolism is_a: MONDO:0019231 {source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18985 {source="MONDO:mim2gene_medgen"} ! DCXR +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18985 {source="OMIM:260800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/418/pentosuria" xsd:anyURI {source="GARD:0000418"} @@ -214706,7 +214152,6 @@ xref: UMLS:C0398691 {source="MEDGEN:140768", source="MONDO:equivalentTo", source is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder is_a: MONDO:0017708 {source="Orphanet:343"} ! mevalonate kinase deficiency is_a: MONDO:0019751 {source="Orphanet:343/inferred", source="PMID:23827249", source="https://orcid.org/0000-0001-7941-2961"} ! autoinflammatory syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7530 {source="MONDO:mim2gene_medgen"} ! MVK property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI [Term] @@ -214769,7 +214214,7 @@ is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0019220 {source="DOID:0050734", source="MESH:C563242/inferred", source="MONDO:Redundant", source="Orphanet:332"} ! inborn disorder of cobalamin metabolism and transport relationship: disease_has_feature HP:0001889 ! Megaloblastic anemia relationship: disease_has_feature HP:0100502 ! Decreased circulating vitamin B12 concentration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4268 {source="MONDO:mim2gene_medgen"} ! CBLIF +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4268 {source="OMIM:261000"} [Term] id: MONDO:0009853 @@ -214856,7 +214301,6 @@ xref: SCTID:238068007 {source="MONDO:equivalentTo"} xref: UMLS:C0342870 {source="MEDGEN:137982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019233 {source="Orphanet:300", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009855 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5213 {source="MONDO:mim2gene_medgen"} ! HSD17B4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4539/d-bifunctional-protein-deficiency" xsd:anyURI {source="GARD:0004539"} @@ -214897,7 +214341,7 @@ is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017747 {source="Orphanet:709"} ! disorder of fucoglycosan synthesis relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20207 {source="MONDO:mim2gene_medgen"} ! B3GLCT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20207 {source="OMIM:261540"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome" xsd:anyURI {source="GARD:0008422"} [Term] @@ -215062,7 +214506,6 @@ is_a: MONDO:0017306 {source="Orphanet:716", source="PMID:33340416"} ! disorder o is_a: MONDO:0019052 {source="DOID:9281/inferred", source="MESH:D010661/inferred", source="NCIT:C81315/inferred", source="Orphanet:716/inferred"} ! inborn errors of metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009861 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:261600", source="Orphanet:716"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8582 {source="MONDO:mim2gene_medgen"} ! PAH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -215110,7 +214553,7 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: disease_has_basis_in_disruption_of GO:0046146 ! tetrahydrobiopterin metabolic process relationship: disease_shares_features_of MONDO:0009861 {source="MONDO:Redundant", source="NCIT:C138173", source="OMIM:261630"} ! phenylketonuria relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:261630", source="Orphanet:226"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9752 {source="MONDO:mim2gene_medgen"} ! QDPR +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9752 {source="OMIM:261630"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency" xsd:anyURI {source="GARD:0004319"} [Term] @@ -215155,7 +214598,7 @@ is_a: MONDO:0016543 {source="DC-OMIM:261640", source="Orphanet:13"} ! hyperpheny relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009863 {source="MONDO:CLINGEN"} relationship: disease_shares_features_of MONDO:0009861 {source="MESH:C535325", source="MONDO:Redundant", source="NCIT:C138171"} ! phenylketonuria relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:261640", source="Orphanet:13"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9689 {source="MONDO:mim2gene_medgen"} ! PTS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9689 {source="OMIM:261640"} [Term] id: MONDO:0009864 @@ -215179,7 +214622,6 @@ xref: Orphanet:2880 {source="OMIM:261650"} xref: Orphanet:79317 {source="MONDO:equivalentObsolete", source="OMIM:261650"} xref: UMLS:C1849821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376665"} is_a: MONDO:0017320 {source="Orphanet:2880/btnt"} ! phosphoenolpyruvate carboxykinase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8725 {source="MONDO:mim2gene_medgen"} ! PCK2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -215223,9 +214665,9 @@ xref: UMLS:C0268149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002412 {source="MONDO:Redundant", source="NCIT:C131647", source="OMIM:261670", source="Orphanet:97234"} ! disorder of glycogen metabolism is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis intersection_of: MONDO:0002412 ! disorder of glycogen metabolism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8889 ! PGAM2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8889 relationship: excluded_subClassOf MONDO:0016118 {source="Orphanet:97234", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular glycogenosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8889 {source="MONDO:mim2gene_medgen"} ! PGAM2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8889 {source="OMIM:261670"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -215254,7 +214696,7 @@ xref: Orphanet:2880 {source="OMIM:261680"} xref: Orphanet:79316 {source="MONDO:equivalentObsolete", source="OMIM:261680"} xref: UMLS:C5574905 {source="MEDGEN:1801754", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017320 {source="Orphanet:2880/btnt"} ! phosphoenolpyruvate carboxykinase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8724 {source="MONDO:mim2gene_medgen"} ! PCK1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8724 {source="OMIM:261680"} [Term] id: MONDO:0009867 @@ -215289,7 +214731,6 @@ is_a: MONDO:0800484 {source="PMID:29298659", source="https://orcid.org/0009-0007 intersection_of: MONDO:0002412 ! disorder of glycogen metabolism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 ! PRKAG2 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 {source="MONDO:mim2gene_medgen"} ! PRKAG2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6446" xsd:anyURI @@ -215335,10 +214776,10 @@ xref: UMLS:C0543514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002412 {source="OMIM:261750", source="PMID:33340416"} ! disorder of glycogen metabolism is_a: MONDO:0005066 {source="Orphanet:79240"} ! metabolic disease intersection_of: MONDO:0002412 ! disorder of glycogen metabolism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8927 ! PHKB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8927 disjoint_from: MONDO:0020693 ! glycogen storage disease due to liver phosphorylase kinase deficiency relationship: disease_disrupts GO:0004689 ! phosphorylase kinase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8927 {source="MONDO:mim2gene_medgen", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! PHKB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8927 {source="OMIM:261750"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -215439,6 +214880,7 @@ xref: OMIM:261990 {source="Orphanet:2891", source="MONDO:equivalentTo", source=" xref: Orphanet:2891 {source="MONDO:equivalentTo", source="OMIM:261990"} xref: UMLS:C1849811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342358"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30477 {source="OMIM:261990"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -215474,7 +214916,6 @@ is_a: MONDO:0006025 {source="DOID:0050677", source="MONDO:Redundant"} ! autosoma is_a: MONDO:0044970 ! mitochondrial disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009872 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:262000", source="Orphanet:123"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1020 {source="MONDO:mim2gene_medgen"} ! BCS1L property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome" xsd:anyURI {source="GARD:0000022"} [Term] @@ -215527,7 +214968,6 @@ xref: UMLS:C0271695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="NCIT:C131000"} ! syndromic disease is_a: MONDO:0019280 {source="Orphanet:769"} ! hypertrichosis relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6091 {source="MONDO:mim2gene_medgen"} ! INSR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/226/rabson-mendenhall-syndrome" xsd:anyURI {source="GARD:0000226"} @@ -215565,9 +215005,9 @@ xref: UMLS:C1849792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018852 {source="DC-OMIM:262300", source="DOID:0110008", source="MONDO:Redundant"} ! achromatopsia is_a: MONDO:0100446 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGB3-related retinopathy intersection_of: MONDO:0018852 ! achromatopsia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2153 ! CNGB3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2153 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2153 {source="MONDO:mim2gene_medgen"} ! CNGB3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2153 {source="OMIM:262300"} [Term] id: MONDO:0009876 @@ -215615,7 +215055,6 @@ xref: Orphanet:631 {source="GARD:0007399", source="OMIM:262400"} xref: SCTID:237837007 {source="MONDO:equivalentTo"} xref: UMLS:C0342573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90986"} is_a: MONDO:0000050 {source="DC-OMIM:262400", source="DOID:0060873", source="OMIM:262400", source="Orphanet:231662"} ! isolated congenital growth hormone deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4261 {source="MONDO:mim2gene_medgen"} ! GH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7399/isolated-growth-hormone-deficiency-type-1a" xsd:anyURI {source="GARD:0007399"} @@ -215661,7 +215100,6 @@ is_a: MONDO:0002254 {source="MONDO:0009877/inferred", source="MONDO:Redundant", is_a: MONDO:0006025 {source="DOID:9521", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015892 {source="Orphanet:633"} ! growth hormone insensitivity syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:262500", source="Orphanet:633"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4263 {source="MONDO:mim2gene_medgen"} ! GHR [Term] id: MONDO:0009878 @@ -215689,8 +215127,8 @@ xref: UMLS:C0878683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:262600", source="Orphanet:95494/btnt"} ! combined pituitary hormone deficiencies, genetic form is_a: MONDO:0019591 {source="Orphanet:90695/btnt"} ! panhypopituitarism intersection_of: MONDO:0013099 ! combined pituitary hormone deficiencies, genetic form -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9455 ! PROP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9455 {source="MONDO:mim2gene_medgen"} ! PROP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9455 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9455 {source="OMIM:262600"} [Term] id: MONDO:0009879 @@ -215715,7 +215153,6 @@ xref: Orphanet:629 {source="MONDO:equivalentTo", source="OMIM:262650"} xref: Orphanet:631 {source="OMIM:262650"} xref: UMLS:C1849779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340412"} is_a: MONDO:0000050 {source="Orphanet:629"} ! isolated congenital growth hormone deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4261 {source="MONDO:mim2gene_medgen"} ! GH1 [Term] id: MONDO:0009880 @@ -215744,7 +215181,7 @@ xref: UMLS:C2678408 {source="MEDGEN:394816", source="MONDO:equivalentTo", source is_a: MONDO:0005152 {source="MESH:C567492/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! hypopituitarism is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:262700"} ! combined pituitary hormone deficiencies, genetic form is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21734 {source="MONDO:mim2gene_medgen"} ! LHX4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21734 {source="OMIM:262700"} [Term] id: MONDO:0009881 @@ -215801,7 +215238,7 @@ xref: UMLS:C2752081 {source="MEDGEN:414178", source="MONDO:equivalentTo", source is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease is_a: MONDO:0002243 {source="DOID:0060601", source="MESH:C537777"} ! hemorrhagic disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009883 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9075 {source="MONDO:mim2gene_medgen"} ! SERPINF2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9075 {source="OMIM:262850"} [Term] id: MONDO:0009884 @@ -215852,7 +215289,7 @@ xref: UMLS:C0796149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000009 {source="DC-OMIM:262890", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:262890"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009885 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25240 {source="MONDO:mim2gene_medgen"} ! ANO6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25240 {source="OMIM:262890"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4777/scott-syndrome" xsd:anyURI {source="GARD:0004777"} [Term] @@ -215977,7 +215414,6 @@ xref: OMIM:263210 {source="MONDO:equivalentTo"} xref: Orphanet:79328 {source="OMIM:263210"} xref: UMLS:C1849762 {source="MEDGEN:376653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0012117 ! ALG9-congenital disorder of glycosylation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15672 {source="MONDO:mim2gene_medgen"} ! ALG9 [Term] id: MONDO:0009891 @@ -216069,7 +215505,6 @@ is_a: MONDO:0001115 {source="DC-OMIM:263400", source="DOID:0060474", source="MON is_a: MONDO:0016540 {source="Orphanet:238557"} ! congenital secondary polycythemia intersection_of: MONDO:0001115 ! familial polycythemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12687 ! VHL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12687 {source="MONDO:mim2gene_medgen"} ! VHL [Term] id: MONDO:0009893 @@ -216118,7 +215553,6 @@ is_a: MONDO:0015461 {source="MONDO:Redundant", source="NCIT:C122654"} ! short ri is_a: MONDO:0018770 {source="DOID:0110092", source="OMIM:263520"} ! Jeune syndrome is_a: MONDO:0019662 {source="Orphanet:93269/btnt"} ! short rib-polydactyly syndrome, Majewski type is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7744 {source="MONDO:mim2gene_medgen"} ! NEK1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -216179,7 +215613,6 @@ xref: UMLS:C1849722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism is_a: MONDO:0009292 {source="Orphanet:206583"} ! glycogen storage disease due to glycogen branching enzyme deficiency is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4180 {source="MONDO:mim2gene_medgen"} ! GBE1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/108/polyglucosan-body-disease-adult" xsd:anyURI {source="GARD:0000108"} @@ -216265,7 +215698,6 @@ xref: UMLS:C1849718 {source="MEDGEN:337894", source="MONDO:equivalentTo", source is_a: MONDO:0017435 {source="DC-OMIM:263650", source="Orphanet:1234"} ! popliteal pterygium syndrome is_a: MONDO:0019287 {source="Orphanet:1234"} ! ectodermal dysplasia syndrome is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:1234"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/496 {source="MONDO:mim2gene_medgen"} ! RIPK4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -216309,7 +215741,7 @@ xref: UMLS:C0162530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003664 {source="MONDO:0020104-obsoleted"} ! hemolytic anemia is_a: MONDO:0019142 {source="DC-OMIM:263700", source="DOID:13271", source="MESH:D017092", source="NCIT:C84697", source="Orphanet:79277"} ! inherited porphyria is_a: MONDO:0020585 {source="MONDO:0020104-obsoleted"} ! anemia due to erythrocyte enzyme disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12592 {source="MONDO:mim2gene_medgen"} ! UROS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12592 {source="OMIM:263700"} [Term] id: MONDO:0009903 @@ -216351,7 +215783,7 @@ is_a: MONDO:0002254 {source="DOID:0111259", source="https://orcid.org/0000-0002- is_a: MONDO:0015161 {source="Orphanet:246"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018237 {source="Orphanet:246"} ! acrofacial dysostosis relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:246", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2867 {source="MONDO:mim2gene_medgen"} ! DHODH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2867 {source="OMIM:263750"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -216392,7 +215824,7 @@ is_a: MONDO:0002254 {source="NCIT:C84730"} ! syndromic disease is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder is_a: MONDO:0006510 {source="DOID:0050450", source="MESH:D053579"} ! renal tubular transport disease is_a: MONDO:0015962 {source="Orphanet:358"} ! inherited renal tubular disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10912 {source="MONDO:mim2gene_medgen"} ! SLC12A3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10912 {source="OMIM:263800"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome" xsd:anyURI {source="GARD:0008547"} [Term] @@ -216488,7 +215920,7 @@ xref: UMLS:C1849700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016543 {source="DC-OMIM:264070", source="Orphanet:1578"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009908 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:264070", source="Orphanet:1578"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8646 {source="MONDO:mim2gene_medgen"} ! PCBD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8646 {source="OMIM:264070"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI [Term] @@ -216501,7 +215933,6 @@ xref: MESH:C564871 {source="MONDO:equivalentTo"} xref: OMIM:264080 {source="MONDO:equivalentTo"} xref: UMLS:C1849699 {source="MEDGEN:337889", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8910 {source="MONDO:mim2gene_medgen"} ! PGR [Term] id: MONDO:0009910 @@ -216680,7 +216111,7 @@ is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0020040 {source="https://orcid.org/0000-0002-5002-8648"} ! 46,XY disorder of sex development intersection_of: MONDO:0020040 ! 46,XY disorder of sex development intersection_of: disease_has_basis_in_disruption_of GO:0047045 ! testosterone 17-beta-dehydrogenase (NADP+) activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5212 {source="MONDO:mim2gene_medgen"} ! HSD17B3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5212 {source="OMIM:264300"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI [Term] @@ -216770,7 +216201,6 @@ xref: SCTID:238069004 {source="MONDO:equivalentTo"} xref: UMLS:C1849678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376636"} is_a: MONDO:0019233 {source="Orphanet:2971", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009919 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/119 {source="MONDO:mim2gene_medgen"} ! ACOX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -216878,7 +216308,7 @@ is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C98699"} ! inherited is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0020040 {source="https://orcid.org/0000-0002-5002-8648"} ! 46,XY disorder of sex development -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11285 {source="MONDO:mim2gene_medgen"} ! SRD5A2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11285 {source="OMIM:264600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI [Term] @@ -216970,7 +216400,6 @@ relationship: excluded_subClassOf MONDO:0016340 {source="Orphanet:758", source=" relationship: excluded_subClassOf MONDO:0019755 {source="MONDO:0015332-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! developmental defect during embryogenesis relationship: excluded_subClassOf MONDO:0024308 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! pseudoxanthoma elasticum (inherited or acquired) relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:264800", source="Orphanet:758"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/57 {source="MONDO:mim2gene_medgen"} ! ABCC6 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum" xsd:anyURI {source="GARD:0009643"} [Term] @@ -217014,7 +216443,6 @@ is_a: MONDO:0015161 {source="Orphanet:2990"} ! multiple congenital anomalies/dys is_a: MONDO:0017415 {source="DC-OMIM:265000", source="MONDO:Redundant", source="Orphanet:2990"} ! multiple pterygium syndrome intersection_of: MONDO:0017415 ! multiple pterygium syndrome intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1967 {source="MONDO:mim2gene_medgen"} ! CHRNG property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7111/multiple-pterygium-syndrome-escobar-type" xsd:anyURI {source="GARD:0007111"} [Term] @@ -217047,8 +216475,8 @@ xref: Orphanet:2998 {source="OMIM:265050", source="MONDO:equivalentObsolete"} xref: UMLS:C0796279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167115"} is_a: MONDO:0017398 {source="DC-OMIM:265050", source="DOID:0060576", source="EFO:1001977", source="MONDO:Redundant", source="OMIM:265050"} ! 3MC syndrome intersection_of: MONDO:0017398 ! 3MC syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17213 ! COLEC11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17213 {source="MONDO:mim2gene_medgen"} ! COLEC11 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17213 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17213 {source="OMIM:265050"} [Term] id: MONDO:0009928 @@ -217078,7 +216506,7 @@ xref: SCTID:87153008 {source="DOID:12117", source="MONDO:equivalentTo"} xref: UMLS:C0155912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56374"} is_a: MONDO:0005087 {source="Orphanet:60025"} ! respiratory system disorder is_a: MONDO:0005275 {source="DOID:12117", source="MESH:C562405"} ! lung disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11020 {source="MONDO:mim2gene_medgen"} ! SLC34A2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11020 {source="OMIM:265100"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis" xsd:anyURI {source="GARD:0011894"} [Term] @@ -217110,9 +216538,9 @@ xref: Orphanet:264675 {source="OMIM:265120"} xref: UMLS:C1968602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:368844"} is_a: MONDO:0012580 {source="OMIM:265120", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary pulmonary alveolar proteinosis intersection_of: MONDO:0012580 ! hereditary pulmonary alveolar proteinosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10801 ! SFTPB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10801 relationship: has_characteristic PATO:0000389 ! acute -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10801 {source="MONDO:mim2gene_medgen", source="OMIM:265120"} ! SFTPB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10801 {source="OMIM:265120"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7306" xsd:anyURI [Term] @@ -217272,7 +216700,7 @@ xref: SCTID:447275002 {source="MONDO:equivalentTo", source="GARD:0008644"} xref: UMLS:C2960310 {source="MEDGEN:755478", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017015 {source="Orphanet:210122"} ! primary interstitial lung disease specific to childhood is_a: MONDO:0020295 {source="https://orcid.org/0000-0002-6601-2165"} ! congenital pulmonary veins anomaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3809 {source="MONDO:mim2gene_medgen"} ! FOXF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3809 {source="OMIM:265380"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8644/alveolar-capillary-dysplasia" xsd:anyURI {source="GARD:0008644"} @@ -217290,6 +216718,7 @@ xref: Orphanet:422 {source="OMIM:265400"} xref: UMLS:C5676877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802382"} is_a: MONDO:0001999 {source="MONDO:Redundant", source="OMIM:265400"} ! primary pulmonary hypertension relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24113 {source="OMIM:265400"} [Term] id: MONDO:0009936 @@ -217417,7 +216846,7 @@ is_a: MONDO:0017198 {source="Orphanet:763", source="PMID:31633310"} ! osteopetro relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009940 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0003510 ! Severe short stature relationship: disease_has_feature HP:0011002 ! Osteopetrosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2536 {source="MONDO:mim2gene_medgen"} ! CTSK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2536 {source="OMIM:265800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis" xsd:anyURI {source="GARD:0004611"} @@ -217497,7 +216926,7 @@ is_a: MONDO:0005516 {source="DOID:0080019"} ! osteochondrodysplasia is_a: MONDO:0018230 {source="Orphanet:3005", source="PMID:31633310"} ! skeletal dysplasia relationship: disease_has_feature HP:0011001 {source="Orphanet:3005"} ! Increased bone mineral density relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:3005", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10778 {source="MONDO:mim2gene_medgen"} ! SFRP4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10778 {source="OMIM:265900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -217579,7 +217008,7 @@ xref: Orphanet:35120 {source="OMIM:266120", source="MONDO:equivalentTo"} xref: UMLS:C1849507 {source="MEDGEN:341470", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003664 {source="Orphanet:35120"} ! hemolytic anemia is_a: MONDO:0019238 {source="Orphanet:35120"} ! inborn disorder of pyrimidine metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17820 {source="MONDO:mim2gene_medgen"} ! NT5C3A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17820 {source="OMIM:266120"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -217607,7 +217036,6 @@ xref: SCTID:39112005 {source="MONDO:equivalentTo"} xref: UMLS:C0398746 {source="MEDGEN:97988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017909 {source="DOID:0081034", source="Orphanet:289846"} ! inherited glutathione synthetase deficiency is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4624 {source="MONDO:mim2gene_medgen"} ! GSS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -217636,7 +217064,6 @@ xref: Orphanet:98867 {source="OMIM:266140", source="MONDO:equivalentObsolete"} xref: SCTID:9434008 {source="MONDO:equivalentTo"} xref: UMLS:C0520739 {source="MONDO:equivalentTo", source="MEDGEN:141708", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="MESH:C563004/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11272 {source="MONDO:mim2gene_medgen"} ! SPTA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4619/pyropoikilocytosis-hereditary" xsd:anyURI {source="GARD:0004619"} @@ -217676,7 +217103,7 @@ xref: SCTID:124716008 {source="DOID:3651"} xref: SCTID:87694001 {source="DOID:3651", source="MONDO:equivalentTo"} xref: UMLS:C0034341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18801"} is_a: MONDO:0019225 {source="Orphanet:3008", source="PMID:33340416"} ! disorder of gluconeogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8636 {source="MONDO:mim2gene_medgen"} ! PC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8636 {source="OMIM:266150"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -217718,7 +217145,6 @@ is_a: MONDO:0016789 {source="Orphanet:766"} ! pyruvate metabolism disorder is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0019052 {source="MESH:C564858/inferred", source="NCIT:C99037", source="Orphanet:766/inferred"} ! inborn errors of metabolism is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9020 {source="MONDO:mim2gene_medgen"} ! PKLR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -217816,7 +217242,7 @@ is_a: MONDO:0017570 {source="DOID:0080492", source="NCIT:C4690", source="Orphane is_a: MONDO:0017749 {source="Orphanet:99843"} ! disorder of multiple glycosylation relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:266265", source="Orphanet:99843"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20197 {source="MONDO:mim2gene_medgen"} ! SLC35C1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20197 {source="OMIM:266265"} [Term] id: MONDO:0009954 @@ -217880,7 +217306,6 @@ is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:266280", source="Orphanet:3021"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9949 {source="MONDO:mim2gene_medgen"} ! RECQL4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome" xsd:anyURI {source="GARD:0004637"} @@ -217969,7 +217394,7 @@ relationship: excluded_subClassOf MONDO:0020044 {source="Orphanet:773", source=" relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy relationship: excluded_subClassOf MONDO:0020228 {source="Orphanet:773", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete cataract associated with a metabolic disease relationship: excluded_subClassOf MONDO:0020281 {source="Orphanet:773", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete metabolic disease with pigmentary retinitis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8940 {source="OMIM:266500"} ! PHYH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8940 {source="OMIM:266500"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5691/refsum-disease" xsd:anyURI {source="GARD:0005691"} [Term] @@ -217998,7 +217423,6 @@ xref: UMLS:C3550693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0100266 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX12 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:266510", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8854 {source="MONDO:mim2gene_medgen"} ! PEX12 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -218071,7 +217495,6 @@ is_a: MONDO:0017842 {source="DC-OMIM:266900", source="MONDO:Redundant", source=" intersection_of: MONDO:0017842 ! Senior-Loken syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7905 ! NPHP1 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:266900"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7905 {source="MONDO:mim2gene_medgen"} ! NPHP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -218138,7 +217561,6 @@ is_a: MONDO:0019695 {source="Orphanet:140969"} ! acromelic dysplasia is_a: MONDO:0100509 {source="https://clinicalgenome.org/affiliation/40072/"} ! IFT140-related recessive ciliopathy relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:140969", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease relationship: excluded_subClassOf MONDO:0020240 {source="Orphanet:140969", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic retinitis pigmentosa -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29077 {source="MONDO:mim2gene_medgen"} ! IFT140 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -218183,7 +217605,7 @@ xref: UMLS:C0796113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="DOID:0060476", source="MONDO:Redundant", source="NCIT:C103144"} ! syndromic disease is_a: MONDO:0019716 {source="Orphanet:2849"} ! overgrowth syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009965 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28648 {source="MONDO:mim2gene_medgen"} ! DIS3L2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28648 {source="OMIM:267000"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome" xsd:anyURI {source="GARD:0003936"} [Term] @@ -218219,7 +217641,6 @@ xref: UMLS:C2673885 {source="MEDGEN:382217", source="MONDO:equivalentTo", source is_a: MONDO:0018921 {source="DC-OMIM:267010", source="DOID:0070121", source="OMIM:267010"} ! Meckel syndrome is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7907 {source="MONDO:mim2gene_medgen"} ! NPHP3 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia" xsd:anyURI {source="GARD:0004665"} [Term] @@ -218280,7 +217701,7 @@ is_a: MONDO:0015827 ! distal renal tubular acidosis is_a: MONDO:0018440 {source="Orphanet:402041/btnt"} ! autosomal recessive distal renal tubular acidosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009968 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0000407 ! Sensorineural hearing impairment -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/853 {source="MONDO:mim2gene_medgen"} ! ATP6V1B1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/853 {source="OMIM:267300"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -218428,7 +217849,7 @@ relationship: disease_has_feature HP:0000777 ! Abnormal thymus morphology relationship: disease_has_feature HP:0001888 ! Lymphopenia relationship: disease_has_feature HP:0004430 ! Severe combined immunodeficiency relationship: disease_has_feature HP:0005541 ! Congenital agranulocytosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/362 {source="MONDO:mim2gene_medgen"} ! AK2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/362 {source="OMIM:267500"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8625/reticular-dysgenesis" xsd:anyURI {source="GARD:0008625"} [Term] @@ -218784,7 +218205,6 @@ xref: SCTID:723512008 {source="MONDO:equivalentTo"} xref: UMLS:C1327916 {source="MEDGEN:231230", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015780 {source="DC-OMIM:268130", source="DOID:0070026", source="OMIM:268130"} ! dyskeratosis congenita is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:3088"} ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11824 {source="MONDO:mim2gene_medgen"} ! TINF2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4695/revesz-syndrome" xsd:anyURI {source="GARD:0004695"} [Term] @@ -218812,7 +218232,7 @@ is_a: MONDO:0000866 {source="DC-OMIM:268200", source="MESH:C564832"} ! hereditar is_a: MONDO:0020504 {source="Orphanet:99845/btnt"} ! hereditary recurrent myoglobinuria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009992 {source="MONDO:CLINGEN"} relationship: has_characteristic PATO:0000389 ! acute -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13345 {source="MONDO:mim2gene_medgen"} ! LPIN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13345 {source="OMIM:268200"} [Term] id: MONDO:0009993 @@ -218854,7 +218274,6 @@ xref: SCTID:14269005 {source="DOID:3246", source="EFO:0000437"} xref: SCTID:404051002 {source="DOID:3246", source="MONDO:equivalentTo", source="EFO:0000437"} xref: UMLS:C0206656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104910"} is_a: MONDO:0005212 {source="DC-OMIM:268210", source="DOID:3246", source="EFO:0000437", source="NCIT:C8971", source="ONCOTREE:ERMS", source="Orphanet:99757"} ! rhabdomyosarcoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10964 {source="MONDO:mim2gene_medgen"} ! SLC22A18 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000589 "embryonal rhabdomyosarcoma (disease)" xsd:string @@ -218903,6 +218322,7 @@ xref: SCTID:404053004 {source="MONDO:equivalentTo", source="EFO:0000248", source xref: SCTID:63449009 {source="EFO:0000248", source="DOID:4051"} xref: UMLS:C0206655 {source="MEDGEN:61651", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005212 {source="DC-OMIM:268220", source="DOID:4051", source="EFO:0000248", source="MESH:D018232", source="NCIT:C3749", source="ONCOTREE:ARMS", source="Orphanet:99756"} ! rhabdomyosarcoma +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3819 {source="OMIM:268220"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000589 "alveolar rhabdomyosarcoma (disease)" xsd:string @@ -218982,7 +218402,7 @@ xref: UMLS:C1849348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder is_a: MONDO:0015161 {source="Orphanet:3102"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18683 {source="MONDO:mim2gene_medgen"} ! EIF4A3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18683 {source="OMIM:268305"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -219021,7 +218441,6 @@ is_a: MONDO:0006025 {source="DOID:0060764"} ! autosomal recessive disease is_a: MONDO:0019978 {source="DC-OMIM:268310", source="DOID:0060764", source="MONDO:Redundant", source="OMIM:268310", source="Orphanet:1507"} ! Robinow syndrome intersection_of: MONDO:0019978 ! Robinow syndrome intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10257 {source="MONDO:mim2gene_medgen"} ! ROR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -219189,7 +218608,6 @@ xref: Orphanet:3124 {source="MONDO:equivalentTo", source="OMIM:268700"} xref: SCTID:111397004 {source="MONDO:equivalentTo"} xref: UMLS:C0268556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75693"} is_a: MONDO:0017351 {source="Orphanet:3124"} ! inborn disorder of lysine and hydroxylysine metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17366 {source="MONDO:mim2gene_medgen"} ! AASS [Term] id: MONDO:0010006 @@ -219242,7 +218660,7 @@ is_a: MONDO:0017720 {source="DOID:3323", source="ICD10CM:E75.01", source="MESH:D is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0020143 {source="Orphanet:796"} ! cerebral lipidosis with dementia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010006 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4879 {source="MONDO:mim2gene_medgen"} ! HEXB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4879 {source="OMIM:268800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -219309,7 +218727,7 @@ relationship: disease_has_basis_in_disruption_of GO:0006544 {source="https://en. relationship: disease_has_basis_in_disruption_of GO:0008480 ! sarcosine dehydrogenase activity relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0019239 {source="Orphanet:3129", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of serine family metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10536 {source="MONDO:mim2gene_medgen"} ! SARDH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10536 {source="OMIM:268900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/158/sarcosinemia" xsd:anyURI {source="GARD:0000158"} @@ -219361,7 +218779,6 @@ is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C129308"} ! syndromi is_a: MONDO:0015160 {source="Orphanet:798"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019287 {source="DOID:0070509", source="Orphanet:798"} ! ectodermal dysplasia syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010010 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15573 {source="MONDO:mim2gene_medgen"} ! SETBP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -219390,6 +218807,7 @@ xref: SCTID:253159001 {source="MONDO:equivalentTo"} xref: UMLS:C0266484 {source="MEDGEN:78606", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002320 {source="NCIT:C99056"} ! congenital nervous system disorder is_a: MONDO:0017103 {source="Orphanet:799"} ! encephaloclastic disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3341 {source="OMIM:269160"} [Term] id: MONDO:0010012 @@ -219466,7 +218884,7 @@ is_a: MONDO:0005516 {source="DOID:0050775", source="MESH:C536637"} ! osteochondr is_a: MONDO:0019694 {source="Orphanet:3144"} ! spondylodysplastic dysplasia is_a: MONDO:0024322 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of glycosylation is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20800 {source="MONDO:mim2gene_medgen"} ! SLC35D1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20800 {source="OMIM:269250"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia" xsd:anyURI {source="GARD:0000169"} @@ -219534,9 +218952,9 @@ xref: UMLS:C3151617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019503 {source="DC-OMIM:269400", source="DOID:0080612", source="MONDO:Redundant", source="OMIM:269400"} ! anterior segment dysgenesis is_a: MONDO:0019629 {source="DOID:0060648"} ! sclerocornea intersection_of: MONDO:0019503 ! anterior segment dysgenesis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14966 ! PXDN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14966 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010015 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14966 {source="MONDO:mim2gene_medgen"} ! PXDN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14966 {source="OMIM:269400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6782" xsd:anyURI @@ -219564,7 +218982,6 @@ xref: UMLS:C4551483 {source="MEDGEN:1642815", source="MONDO:equivalentTo", sourc is_a: MONDO:0017838 {source="DC-OMIM:269500", source="DOID:0060756", source="MONDO:Redundant", source="OMIM:269500"} ! sclerosteosis intersection_of: MONDO:0017838 ! sclerosteosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13771 ! SOST -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13771 {source="MONDO:mim2gene_medgen"} ! SOST property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -219595,7 +219012,6 @@ is_a: MONDO:0002254 {source="NCIT:C85062"} ! syndromic disease is_a: MONDO:0015531 {source="DOID:4423", source="MESH:D012618", source="Orphanet:158029"} ! non-Langerhans cell histiocytosis is_a: MONDO:0019255 {source="DOID:4423", source="MESH:D012618", source="Orphanet:158029"} ! sphingolipidosis relationship: disease_has_feature MONDO:0005509 {source="EFO:1001170"} ! histiocytoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/613 {source="MONDO:mim2gene_medgen"} ! APOE [Term] id: MONDO:0010018 @@ -219663,7 +219079,6 @@ is_a: MONDO:0006536 {source="DC-OMIM:269700", source="DOID:0111136", source="MON is_a: MONDO:0018883 {source="Orphanet:528/btnt"} ! Berardinelli-Seip congenital lipodystrophy intersection_of: MONDO:0006536 ! congenital generalized lipodystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15832 ! BSCL2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15832 {source="MONDO:mim2gene_medgen"} ! BSCL2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10212/congenital-generalized-lipodystrophy-type-2" xsd:anyURI {source="GARD:0010212"} [Term] @@ -219729,7 +219144,6 @@ is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined is_a: MONDO:0021094 {source="OMIM:269840"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010023 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:911", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12858 {source="MONDO:mim2gene_medgen"} ! ZAP70 [Term] id: MONDO:0010024 @@ -219824,7 +219238,6 @@ is_a: MONDO:0020087 {source="Orphanet:3163"} ! hereditary lipodystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010026 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:3163", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8979 {source="MONDO:mim2gene_medgen"} ! PIK3R1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -219861,7 +219274,6 @@ is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmem is_a: MONDO:0019366 {source="Orphanet:309324"} ! free sialic acid storage disease is_a: MONDO:0800088 {source="Orphanet:309324", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10933 {source="MONDO:mim2gene_medgen"} ! SLC17A5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -219894,7 +219306,6 @@ xref: SCTID:238051008 {source="MONDO:equivalentTo", source="DOID:3659"} xref: UMLS:C0342853 {source="MEDGEN:137980", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017736 {source="Orphanet:3166"} ! disorder of sialic acid metabolism is_a: MONDO:0019366 ! free sialic acid storage disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23657 {source="MONDO:mim2gene_medgen"} ! GNE [Term] id: MONDO:0010029 @@ -220041,7 +219452,7 @@ is_a: MONDO:0006025 {source="DOID:14501", source="MONDO:indirect"} ! autosomal r is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0019046 {source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:270200", source="Orphanet:816"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/403 {source="MONDO:mim2gene_medgen"} ! ALDH3A2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/403 {source="OMIM:270200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome" xsd:anyURI {source="GARD:0007654"} @@ -220142,7 +219553,7 @@ is_a: MONDO:0019240 {source="Orphanet:818"} ! sterol biosynthesis disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010035 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0006695 ! cholesterol biosynthetic process relationship: disease_has_basis_in_disruption_of GO:0047598 ! 7-dehydrocholesterol reductase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2860 {source="MONDO:mim2gene_medgen", source="PMID:15670717"} ! DHCR7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2860 {source="OMIM:270400"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome" xsd:anyURI {source="GARD:0005683"} [Term] @@ -220180,8 +219591,8 @@ is_a: MONDO:0000824 {source="DC-OMIM:270420", source="MONDO:Redundant", source=" is_a: MONDO:0015170 {source="Orphanet:103908/btnt"} ! congenital sodium diarrhea is_a: MONDO:0045032 {source="MONDO:Redundant"} ! congenital secretory diarrhea intersection_of: MONDO:0000249 ! secretory diarrhea -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11247 ! SPINT2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11247 {source="MONDO:mim2gene_medgen"} ! SPINT2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11247 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11247 {source="OMIM:270420"} [Term] id: MONDO:0010037 @@ -220226,7 +219637,7 @@ xref: Orphanet:73273 {source="GARD:0010609", source="MONDO:equivalentTo", source xref: SCTID:715625007 {source="MONDO:equivalentTo"} xref: UMLS:C1849157 {source="MEDGEN:338622", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015892 {source="Orphanet:73273"} ! growth hormone insensitivity syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5465 {source="MONDO:mim2gene_medgen"} ! IGF1R +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5465 {source="OMIM:270450"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10609/insulin-like-growth-factor-1-resistance-to" xsd:anyURI {source="GARD:0010609"} [Term] @@ -220298,7 +219709,7 @@ xref: UMLS:C1849140 {source="MEDGEN:338620", source="MONDO:equivalentTo", source is_a: MONDO:0015244 {source="DOID:0050946", source="MONDO:indirect"} ! autosomal recessive cerebellar ataxia is_a: MONDO:0017845 {source="MONDO:Redundant", source="OMIM:270550", source="Orphanet:98/inferred"} ! spastic ataxia is_a: MONDO:0017847 {source="MONDO:Redundant", source="Orphanet:98"} ! autosomal recessive spastic ataxia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10519 {source="MONDO:mim2gene_medgen"} ! SACS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10519 {source="OMIM:270550"} [Term] id: MONDO:0010042 @@ -220353,7 +219764,6 @@ is_a: MONDO:0015362 {source="Orphanet:100998"} ! neuronopathy, distal hereditary is_a: MONDO:0019064 {source="DOID:0110770", source="MESH:C536644", source="MONDO:Redundant", source="OMIM:270685", source="Orphanet:100998/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15832 ! BSCL2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15832 {source="MONDO:mim2gene_medgen"} ! BSCL2 [Term] id: MONDO:0010044 @@ -220391,7 +219801,7 @@ xref: SCTID:709417000 {source="MONDO:equivalentTo"} xref: UMLS:C1849128 {source="MEDGEN:341387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110768", source="MESH:C536642", source="MONDO:Redundant", source="OMIM:270700", source="Orphanet:100996/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20761 {source="MONDO:mim2gene_medgen"} ! ZFYVE26 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20761 {source="OMIM:270700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -220448,7 +219858,6 @@ xref: SCTID:726608002 {source="MONDO:equivalentTo"} xref: UMLS:C0796019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167094"} is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110774", source="MESH:C536859", source="MONDO:Redundant", source="OMIM:270750", source="Orphanet:101003/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29043 {source="MONDO:mim2gene_medgen"} ! DSTYK property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -220483,7 +219892,6 @@ xref: Orphanet:100986 {source="DOID:0110810", source="OMIM:270800", source="MOND xref: SCTID:763373005 {source="MONDO:equivalentTo"} xref: UMLS:C1849115 {source="MEDGEN:376521", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019064 {source="DOID:0110810", source="MONDO:Redundant", source="OMIM:270800", source="Orphanet:100986/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2652 {source="MONDO:mim2gene_medgen"} ! CYP7B1 [Term] id: MONDO:0010048 @@ -220600,7 +220008,6 @@ intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18130 ! SYCP3 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18130 ! SYCP3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18130 {source="MONDO:mim2gene_medgen"} ! SYCP3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18130 {source="MONDO:mim2gene_medgen"} ! SYCP3 [Term] id: MONDO:0010053 @@ -220626,7 +220033,6 @@ xref: UMLS:C2678338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019350 {source="DOID:0110918", source="MESH:C567489", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis intersection_of: MONDO:0019350 ! hereditary spherocytosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11272 ! SPTA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11272 {source="MONDO:mim2gene_medgen"} ! SPTA1 [Term] id: MONDO:0010054 @@ -220689,7 +220095,6 @@ xref: SCTID:85505000 {source="MONDO:equivalentTo"} xref: UMLS:C1838230 {source="MEDGEN:325364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019079 {source="Orphanet:83420"} ! proximal spinal muscular atrophy is_a: MONDO:0024237 {source="MONDO:indirect"} ! inherited neurodegenerative disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11117 {source="MONDO:mim2gene_medgen"} ! SMN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -220774,7 +220179,6 @@ is_a: MONDO:0100512 {source="Orphanet:1186", source="https://orcid.org/0000-0001 intersection_of: MONDO:0020046 ! autosomal recessive degenerative and progressive cerebellar ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1160 ! TWNK relationship: has_characteristic HP:0003593 ! Infantile onset -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1160 {source="MONDO:mim2gene_medgen"} ! TWNK [Term] id: MONDO:0010061 @@ -220928,7 +220332,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditar is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6502 {source="MONDO:mim2gene_medgen"} ! RPSA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6502 {source="OMIM:271400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI @@ -220980,6 +220384,7 @@ xref: SCTID:389161008 {source="MONDO:equivalentTo"} xref: UMLS:C1300260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266247"} is_a: MONDO:0100510 {source="DOID:5684", source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:271510", source="DOID:5684", source="Orphanet:93357", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7801 {source="OMIM:271510"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4970/spondyloepimetaphyseal-dysplasia-sponastrime-type" xsd:anyURI {source="GARD:0004970"} @@ -221140,7 +220545,6 @@ xref: UMLS:C4017377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019675 {source="DC-OMIM:271640", source="DOID:0112198", source="MONDO:Redundant", source="OMIM:271640"} ! spondyloepimetaphyseal dysplasia with joint laxity intersection_of: MONDO:0019675 ! spondyloepimetaphyseal dysplasia with joint laxity intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17978 ! B3GALT6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17978 {source="MONDO:mim2gene_medgen"} ! B3GALT6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -221204,7 +220608,6 @@ xref: UMLS:C1849011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0100510 {source="DOID:0112196", source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010077 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0016761 {source="Orphanet:93358", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2731 {source="MONDO:mim2gene_medgen"} ! DDR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI @@ -221237,7 +220640,6 @@ xref: UMLS:C0796173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016761 {source="Orphanet:1856"} ! spondyloepiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:1856", source="PMID:31633310"} ! type 2 collagenopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010078 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5282" xsd:anyURI @@ -221286,7 +220688,7 @@ is_a: MONDO:0019046 {source="DOID:3613", source="NCIT:C84611", source="Orphanet: is_a: MONDO:0024237 {source="MESH:D017825", source="MESH:D017825/inferred"} ! inherited neurodegenerative disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010079 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0016399 {source="Orphanet:141", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete amino acid or protein metabolism disease with epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/756 {source="MONDO:mim2gene_medgen"} ! ASPA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/756 {source="OMIM:271900"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5984/canavan-disease" xsd:anyURI {source="GARD:0005984"} [Term] @@ -221323,7 +220725,7 @@ is_a: MONDO:0003122 {source="OMIM:271930"} ! striatonigral degeneration is_a: MONDO:0015518 {source="MONDO:Redundant", source="Orphanet:225154"} ! infantile bilateral striatal necrosis intersection_of: MONDO:0015518 ! infantile bilateral striatal necrosis intersection_of: has_characteristic MONDO:0021152 ! inherited -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8066 {source="MONDO:mim2gene_medgen"} ! NUP62 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8066 {source="OMIM:271930"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10665/familial-bilateral-striatal-necrosis" xsd:anyURI {source="GARD:0010665"} [Term] @@ -221403,7 +220805,7 @@ xref: SCTID:49748000 {source="MONDO:equivalentTo"} xref: UMLS:C0268631 {source="MEDGEN:124340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000698 {source="DOID:0060175", source="Orphanet:22"} ! gamma-amino butyric acid metabolism disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010083 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/408 {source="MONDO:mim2gene_medgen"} ! ALDH5A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/408 {source="OMIM:271980"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7695/succinic-semialdehyde-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0007695"} [Term] @@ -221543,7 +220945,7 @@ is_a: MONDO:0019255 {source="DOID:0050441", source="MESH:D052517/inferred", sour is_a: MONDO:0800088 {source="Orphanet:585", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010088 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20376 {source="MONDO:mim2gene_medgen"} ! SUMF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20376 {source="OMIM:272200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -221576,7 +220978,7 @@ xref: SCTID:367368009 {source="MONDO:equivalentTo"} xref: UMLS:C0268624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78695"} is_a: MONDO:0019358 {source="Orphanet:99731"} ! encephalopathy due to sulfite oxidase deficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010089 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11460 {source="MONDO:mim2gene_medgen"} ! SUOX +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11460 {source="OMIM:272300"} [Term] id: MONDO:0010090 @@ -221635,7 +221037,7 @@ xref: Orphanet:157820 {source="OMIM:272430"} xref: SCTID:725097006 {source="MONDO:equivalentTo"} xref: UMLS:C1848947 {source="MEDGEN:338577", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015526 {source="DC-OMIM:272430", source="DOID:0080329", source="OMIM:272430"} ! cold-induced sweating syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2364 {source="MONDO:mim2gene_medgen"} ! CRLF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2364 {source="OMIM:272430"} [Term] id: MONDO:0010092 @@ -221674,7 +221076,7 @@ xref: UMLS:C0795940 {source="MONDO:equivalentTo", source="MEDGEN:163197", source is_a: MONDO:0015159 {source="Orphanet:3255"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3255", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26877 {source="MONDO:mim2gene_medgen"} ! CKAP2L +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26877 {source="OMIM:272440"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -221725,7 +221127,6 @@ xref: UMLS:C1848934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005497 {source="DOID:0090116", source="MONDO:Redundant", source="MONDO:indirect"} ! bone development disease is_a: MONDO:0019690 {source="Orphanet:3275", source="PMID:31633310"} ! filamin-related bone disorder is_a: MONDO:0019694 {source="Orphanet:3275"} ! spondylodysplastic dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3755 {source="MONDO:mim2gene_medgen"} ! FLNB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4974/spondylocarpotarsal-synostosis-syndrome" xsd:anyURI {source="GARD:0004974"} @@ -221830,7 +221231,7 @@ xref: UMLS:C0268275 {source="MEDGEN:78657", source="MONDO:equivalentTo", source= is_a: MONDO:0002561 {source="DOID:4795/inferred", source="MESH:D049290/inferred", source="MONDO:Redundant", source="NCIT:C133084", source="Orphanet:309246/inferred"} ! lysosomal storage disease is_a: MONDO:0017720 {source="DOID:4795", source="MESH:D049290", source="Orphanet:309246"} ! GM2 gangliosidosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010099 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4367 {source="MONDO:mim2gene_medgen"} ! GM2A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4367 {source="OMIM:272750"} [Term] id: MONDO:0010100 @@ -221892,7 +221293,6 @@ is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral n is_a: MONDO:0020143 {source="Orphanet:845"} ! cerebral lipidosis with dementia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010100 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0004563 ! beta-N-acetylhexosaminidase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4878 {source="MONDO:mim2gene_medgen"} ! HEXA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease" xsd:anyURI {source="GARD:0007737"} @@ -222266,9 +221666,9 @@ xref: UMLS:C2678312 {source="MEDGEN:395592", source="MONDO:equivalentTo", source is_a: MONDO:0007477 {source="DC-OMIM:273750", source="MONDO:Redundant", source="OMIM:273750"} ! 3-M syndrome is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder intersection_of: MONDO:0007477 ! 3-M syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21024 ! CUL7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21024 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:273750"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21024 {source="MONDO:mim2gene_medgen"} ! CUL7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21024 {source="OMIM:273750"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -222316,7 +221716,7 @@ xref: Orphanet:268322 {source="OMIM:273900"} xref: UMLS:C2678311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:437174"} is_a: MONDO:0100241 {source="DC-OMIM:273900", source="MESH:C567487", source="MONDO:Redundant", source="MONDO:indirect", source="OMIM:273900"} ! inherited thrombocytopenia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010120 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4036 {source="MONDO:mim2gene_medgen"} ! FYB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4036 {source="OMIM:273900"} [Term] id: MONDO:0010121 @@ -222365,7 +221765,7 @@ is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010121 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000761 {source="DOID:14699", source="https://orcid.org/0000-0001-5208-3432"} ! syndrome caused by partial chromosomal deletion -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9905 {source="MONDO:mim2gene_medgen"} ! RBM8A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9905 {source="OMIM:274000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -222415,7 +221815,7 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010122 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:93583/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1366 {source="MONDO:mim2gene_medgen"} ! ADAMTS13 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1366 {source="OMIM:274150"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -222586,7 +221986,6 @@ is_a: MONDO:0018381 {source="MONDO:Redundant", source="Orphanet:1675"} ! osteoch is_a: MONDO:0019052 {source="DOID:14218/inferred", source="MESH:D054067/inferred", source="MONDO:Redundant", source="NCIT:C84672", source="Orphanet:1675/inferred"} ! inborn errors of metabolism is_a: MONDO:0019238 {source="Orphanet:1675"} ! inborn disorder of pyrimidine metabolism is_a: MONDO:0019254 {source="DOID:14218", source="MESH:D054067", source="MONDO:Redundant", source="Orphanet:1675/inferred"} ! inborn disorder of purine or pyrimidine metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3012 {source="MONDO:mim2gene_medgen"} ! DPYD property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0000019"} [Term] @@ -222619,7 +222018,6 @@ xref: UMLS:C3489796 {source="MEDGEN:483749", source="MONDO:equivalentTo", source is_a: MONDO:0001328 {source="DC-OMIM:274300", source="MONDO:Redundant", source="MONDO:indirect"} ! thyroid hormone resistance syndrome is_a: MONDO:0009043 {source="Orphanet:3221/btnt"} ! generalized resistance to thyroid hormone relationship: excluded_subClassOf MONDO:0019589 {source="Orphanet:3221-moved-down", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic hearing loss -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11799 {source="MONDO:mim2gene_medgen"} ! THRB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -222681,8 +222079,8 @@ xref: UMLS:C1291299 {source="MEDGEN:226940", source="MONDO:equivalentTo", source is_a: MONDO:0010132 {source="DOID:0112186", source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis is_a: MONDO:0018612 {source="MESH:C563206", source="NCIT:C121750"} ! congenital hypothyroidism intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12015 ! TPO -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12015 {source="MONDO:mim2gene_medgen"} ! TPO +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12015 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12015 {source="OMIM:274500"} [Term] id: MONDO:0010134 @@ -222753,7 +222151,6 @@ xref: UMLS:C0342194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0010132 {source="DOID:0112187", source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11764 ! TG -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11764 {source="MONDO:mim2gene_medgen"} ! TG [Term] id: MONDO:0010136 @@ -222781,8 +222178,8 @@ xref: SCTID:17885001 {source="MONDO:equivalentTo"} xref: UMLS:C0342195 {source="MEDGEN:87429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010132 {source="DOID:0112188", source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21071 ! IYD -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21071 {source="MONDO:mim2gene_medgen"} ! IYD +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21071 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21071 {source="OMIM:274800"} [Term] id: MONDO:0010137 @@ -222808,8 +222205,8 @@ xref: SCTID:63127008 {source="MONDO:equivalentTo"} xref: UMLS:C0342196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87430"} is_a: MONDO:0010132 {source="DOID:0112184", source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32698 ! DUOXA2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32698 {source="MONDO:mim2gene_medgen"} ! DUOXA2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32698 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32698 {source="OMIM:274900"} [Term] id: MONDO:0010138 @@ -222877,7 +222274,7 @@ is_a: MONDO:0000045 {source="DC-OMIM:275100", source="OMIM:275100"} ! hypothyroi is_a: MONDO:0016410 {source="Orphanet:90674"} ! central congenital hypothyroidism is_a: MONDO:0018612 {source="DOID:0070123", source="Orphanet:90674/inferred"} ! congenital hypothyroidism is_a: MONDO:0019824 {source="Orphanet:90674"} ! non-acquired pituitary hormone deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12372 {source="MONDO:mim2gene_medgen"} ! TSHB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12372 {source="OMIM:275100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -222911,7 +222308,6 @@ xref: Orphanet:238670 {source="MONDO:equivalentTo", source="OMIM:275120"} xref: SCTID:10736002 {source="MONDO:equivalentTo"} xref: UMLS:C0220998 {source="MEDGEN:113137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016410 {source="NCIT:C121741", source="Orphanet:238670"} ! central congenital hypothyroidism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12298 {source="MONDO:mim2gene_medgen"} ! TRH [Term] id: MONDO:0010141 @@ -222958,7 +222354,6 @@ is_a: MONDO:0000045 {source="DC-OMIM:275200", source="OMIM:275200"} ! hypothyroi is_a: MONDO:0018612 {source="DOID:0070126", source="Orphanet:90673/inferred"} ! congenital hypothyroidism relationship: disease_has_basis_in_disruption_of GO:0004879 ! nuclear receptor activity relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12373 {source="MONDO:mim2gene_medgen"} ! TSHR [Term] id: MONDO:0010143 @@ -223109,7 +222504,7 @@ xref: UMLS:C0342701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0019220 {source="DOID:0050818", source="MONDO:Redundant", source="OMIM:275350", source="Orphanet:859"} ! inborn disorder of cobalamin metabolism and transport -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11653 {source="MONDO:mim2gene_medgen"} ! TCN2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11653 {source="OMIM:275350"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI [Term] @@ -223193,7 +222588,6 @@ xref: Orphanet:3363 {source="MONDO:equivalentTo", source="OMIM:275400"} xref: SCTID:719944006 {source="MONDO:equivalentTo"} xref: UMLS:C1848745 {source="MEDGEN:338532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019287 {source="Orphanet:3363"} ! ectodermal dysplasia syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16268 {source="MONDO:mim2gene_medgen"} ! PNPLA6 [Term] id: MONDO:0010153 @@ -223279,7 +222673,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0015611 {source="Orphanet:98907", source="https://orcid.org/0000-0001-5208-3432"} ! neutral lipid storage disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010155 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0017270 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal ichthyosis syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21396 {source="MONDO:mim2gene_medgen"} ! ABHD5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21396 {source="OMIM:275630"} [Term] id: MONDO:0010156 @@ -223321,7 +222715,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0050886", source="MESH:C536858", source="MONDO:Redundant", source="OMIM:275900", source="Orphanet:101000/inferred", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010156 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18514 {source="MONDO:mim2gene_medgen"} ! SPART +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18514 {source="OMIM:275900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5372/troyer-syndrome" xsd:anyURI {source="GARD:0005372"} @@ -223447,7 +222841,7 @@ relationship: disease_has_feature HP:0000491 ! Keratitis relationship: disease_has_feature HP:0000972 ! Palmoplantar hyperkeratosis relationship: disease_has_feature HP:0001249 ! Intellectual disability relationship: disease_has_feature HP:0003231 ! Hypertyrosinemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11573 {source="MONDO:mim2gene_medgen"} ! TAT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11573 {source="OMIM:276600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2" xsd:anyURI {source="GARD:0003105"} @@ -223494,7 +222888,7 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: disease_has_feature HP:0003231 ! Hypertyrosinemia relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:882", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3579 {source="MONDO:mim2gene_medgen"} ! FAH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3579 {source="OMIM:276700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1" xsd:anyURI {source="GARD:0002658"} @@ -223536,7 +222930,6 @@ xref: UMLS:C0268623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004741 {source="DC-OMIM:276710", source="DOID:0050727", source="OMIM:276710"} ! tyrosinemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010162 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0003231 ! Hypertyrosinemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5147 {source="MONDO:mim2gene_medgen"} ! HPD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3" xsd:anyURI {source="GARD:0010332"} @@ -223592,7 +222985,6 @@ xref: UMLS:C1848651 {source="MEDGEN:336388", source="MONDO:equivalentTo", source is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019713 {source="PMID:31633310", source="https://orcid.org/0000-0002-5002-8648"} ! non-syndromic limb reduction defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12786 {source="MONDO:mim2gene_medgen"} ! WNT7A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -223668,7 +223060,7 @@ xref: SCTID:60952007 {source="MONDO:equivalentTo"} xref: UMLS:C0268514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120644"} is_a: MONDO:0019228 {source="DOID:0112180", source="Orphanet:210128", source="PMID:33340416"} ! inborn disorder of histidine metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010167 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26444 {source="MONDO:mim2gene_medgen"} ! UROC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26444 {source="OMIM:276880"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000589 "urocanic aciduria (disease)" xsd:string @@ -223741,7 +223133,6 @@ is_a: MONDO:0019501 {source="DOID:0110838/inferred", source="MESH:C536490", sour intersection_of: MONDO:0019501 ! Usher syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12601 ! USH2A relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:276901"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12601 {source="MONDO:mim2gene_medgen"} ! USH2A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -223772,7 +223163,6 @@ is_a: MONDO:0019501 {source="DOID:0110841/inferred", source="MONDO:Redundant", s intersection_of: MONDO:0019501 ! Usher syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12605 ! CLRN1 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:276902"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12605 {source="MONDO:mim2gene_medgen"} ! CLRN1 [Term] id: MONDO:0010171 @@ -223801,7 +223191,6 @@ xref: UMLS:C1848604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0010168 {source="DOID:0110830", source="Orphanet:231169"} ! Usher syndrome type 1 is_a: MONDO:0019501 {source="DOID:0110830/inferred", source="MONDO:Redundant", source="OMIM:276904"} ! Usher syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:276904"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12597 {source="MONDO:mim2gene_medgen"} ! USH1C property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5437/usher-syndrome-type-1c" xsd:anyURI {source="GARD:0005437"} [Term] @@ -223834,7 +223223,6 @@ relationship: disease_shares_features_of MONDO:0008642 ! VACTERL/vater associati relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:3412", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0015246 {source="Orphanet:3412", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic anorectal malformation relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:3412", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 {source="MONDO:mim2gene_medgen"} ! PTEN [Term] id: MONDO:0010173 @@ -223949,7 +223337,6 @@ is_a: MONDO:0018772 {source="DOID:0060376"} ! Joubert syndrome is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2754", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25801 {source="MONDO:mim2gene_medgen"} ! CPLANE1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4412/polydactyly-cleft-lip-palate-psychomotor-retardation" xsd:anyURI {source="GARD:0004412"} @@ -224002,7 +223389,6 @@ xref: Orphanet:48 {source="OMIM:277180"} xref: UMLS:C0403814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98021"} is_a: MONDO:0018801 {source="DOID:0111864", source="OMIM:277180", source="Orphanet:48/btnt"} ! congenital bilateral absence of vas deferens relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1884 {source="MONDO:mim2gene_medgen"} ! CFTR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -224150,7 +223536,7 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: disease_has_basis_in_disruption_of GO:0007041 {source="PMID:21502308"} ! lysosomal transport relationship: disease_has_basis_in_disruption_of GO:0015889 {source="PMID:21502308"} ! cobalamin transport relationship: disease_has_feature HP:0002912 ! Methylmalonic acidemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23038 {source="MONDO:mim2gene_medgen"} ! LMBRD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23038 {source="OMIM:277380"} [Term] id: MONDO:0010184 @@ -224199,7 +223585,6 @@ is_a: MONDO:0016826 {source="DC-OMIM:277400", source="OMIM:277400", source="Orph is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010184 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0002912 ! Methylmalonic acidemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24525 {source="MONDO:mim2gene_medgen"} ! MMACHC [Term] id: MONDO:0010185 @@ -224254,7 +223639,6 @@ is_a: MONDO:0016826 {source="DC-OMIM:277410", source="OMIM:277410", source="Orph is_a: MONDO:0100463 {source="https://orcid.org/0000-0002-5655-9589"} ! methylmalonic aciduria and/or homocystinuria, cblD type relationship: disease_has_feature HP:0002156 ! Homocystinuria relationship: disease_has_feature HP:0002912 ! Methylmalonic acidemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25221 {source="MONDO:mim2gene_medgen"} ! MMADHC [Term] id: MONDO:0010186 @@ -224294,9 +223678,9 @@ is_a: MONDO:0005520 {source="DC-OMIM:277440", source="MONDO:Redundant", source=" is_a: MONDO:0019642 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! vitamin D-dependent rickets, type 2 is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder intersection_of: MONDO:0019642 ! vitamin D-dependent rickets, type 2 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12679 ! VDR +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12679 relationship: disease_has_basis_in_disruption_of GO:0004879 ! nuclear receptor activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12679 {source="MONDO:mim2gene_medgen"} ! VDR +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12679 {source="OMIM:277440"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -224338,7 +223722,6 @@ is_a: MONDO:0021181 {source="MESH:C564741", source="MONDO:Redundant"} ! inherite intersection_of: MONDO:0015722 ! congenital vitamin K-dependent coagulation factors deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4247 ! GGCX relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010187 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4247 {source="MONDO:mim2gene_medgen"} ! GGCX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI [Term] @@ -224380,7 +223763,7 @@ xref: UMLS:C1848533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005528 {source="DOID:0090028"} ! inborn vitamin metabolic disorder is_a: MONDO:0020044 {source="Orphanet:96"} ! autosomal recessive metabolic cerebellar ataxia is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12404 {source="MONDO:mim2gene_medgen"} ! TTPA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12404 {source="OMIM:277460"} [Term] id: MONDO:0010189 @@ -224418,7 +223801,6 @@ is_a: MONDO:0016759 {source="DOID:0060267", source="MONDO:Redundant", source="Or is_a: MONDO:0020135 {source="DOID:0060267", source="MONDO:Redundant", source="OMIM:277470"} ! pontocerebellar hypoplasia intersection_of: MONDO:0016759 ! pontocerebellar hypoplasia type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27561 ! TSEN54 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27561 {source="MONDO:mim2gene_medgen"} ! TSEN54 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3631/microcephaly-pontocerebellar-hypoplasia-dyskinesia" xsd:anyURI {source="GARD:0003631"} [Term] @@ -224453,7 +223835,6 @@ xref: SCTID:128108002 {source="MONDO:equivalentTo"} xref: UMLS:C1264041 {source="MEDGEN:266075", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019565 {source="DC-OMIM:277480", source="DOID:0111054", source="MESH:D056729", source="NCIT:C85213", source="Orphanet:166096"} ! hereditary von Willebrand disease is_a: MONDO:0024574 {source="MESH:D056729", source="NCIT:C85213"} ! von Willebrand disease (hereditary or acquired) -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12726 {source="MONDO:mim2gene_medgen"} ! VWF [Term] id: MONDO:0010192 @@ -224486,7 +223867,6 @@ intersection_of: MONDO:0018094 ! Waardenburg syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3180 ! EDNRB relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010192 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:277580"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3180 {source="MONDO:mim2gene_medgen"} ! EDNRB [Term] id: MONDO:0010193 @@ -224541,7 +223921,7 @@ is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal is_a: MONDO:0019716 {source="Orphanet:3447"} ! overgrowth syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010193 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3447", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3527 {source="MONDO:mim2gene_medgen"} ! EZH2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3527 {source="OMIM:277590"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -224571,8 +223951,8 @@ xref: UMLS:C4552002 {source="MEDGEN:1637058", source="MONDO:equivalentTo", sourc is_a: MONDO:0018096 {source="DC-OMIM:277600", source="MONDO:Redundant", source="OMIM:277600"} ! Weill-Marchesani syndrome is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia intersection_of: MONDO:0018096 ! Weill-Marchesani syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13201 ! ADAMTS10 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13201 {source="MONDO:mim2gene_medgen"} ! ADAMTS10 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13201 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13201 {source="OMIM:277600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -224628,7 +224008,7 @@ relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000- relationship: excluded_subClassOf MONDO:0016382 {source="Orphanet:902", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary poikiloderma relationship: excluded_subClassOf MONDO:0019303 {source="Orphanet:902", source="https://orcid.org/0000-0001-5208-3432"} ! premature aging syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:277700", source="Orphanet:902"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12791 {source="MONDO:mim2gene_medgen"} ! WRN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12791 {source="OMIM:277700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI [Term] @@ -224760,7 +224140,7 @@ relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:905", source=" relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy relationship: excluded_subClassOf MONDO:0020257 {source="Orphanet:905", source="https://orcid.org/0000-0001-5208-3432"} ! supranuclear oculomotor palsy relationship: excluded_subClassOf MONDO:0044807 {source="MONDO:0018265-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! inherited dystonia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/870 {source="MONDO:mim2gene_medgen"} ! ATP7B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/870 {source="OMIM:277900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6891" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7893/wilson-disease" xsd:anyURI {source="GARD:0007893"} @@ -224794,7 +224174,7 @@ xref: UMLS:C0432289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:277950"} ! hereditary disease is_a: MONDO:0018298 {source="https://orcid.org/0000-0001-5493-2602"} ! multicentric osteolysis-nodulosis-arthropathy spectrum is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7160 {source="MONDO:mim2gene_medgen"} ! MMP14 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7160 {source="OMIM:277950"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5784" xsd:anyURI @@ -224876,7 +224256,6 @@ is_a: MONDO:0008686 {source="Orphanet:170/btnt"} ! isolated familial wooly hair is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15520 ! LPAR6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15520 {source="MONDO:mim2gene_medgen"} ! LPAR6 [Term] id: MONDO:0010207 @@ -224924,7 +224303,6 @@ xref: UMLS:C0406587 {source="MEDGEN:98030", source="MONDO:equivalentTo", source= is_a: MONDO:0018163 {source="Orphanet:2834"} ! autosomal recessive cutis laxa type 2A is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18481 {source="MONDO:mim2gene_medgen"} ! ATP6V0A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -224963,7 +224341,7 @@ xref: SCTID:72682008 {source="MONDO:equivalentTo"} xref: UMLS:C0268118 {source="MEDGEN:82771", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018106 {source="DOID:0070452", source="MONDO:Redundant", source="OMIM:278300", source="Orphanet:93601"} ! hereditary xanthinuria is_a: MONDO:0019052 {source="MESH:C562584", source="MONDO:Redundant", source="Orphanet:93601/inferred"} ! inborn errors of metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12805 {source="MONDO:mim2gene_medgen"} ! XDH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12805 {source="OMIM:278300"} [Term] id: MONDO:0010210 @@ -225001,9 +224379,9 @@ xref: SCTID:43477006 {source="MONDO:equivalentTo"} xref: UMLS:C0268135 {source="MEDGEN:82775", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019600 {source="DC-OMIM:278700", source="DOID:0110843", source="MONDO:Redundant", source="NCIT:C3965"} ! xeroderma pigmentosum intersection_of: MONDO:0019600 ! xeroderma pigmentosum -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12814 ! XPA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12814 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010210 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12814 {source="MONDO:mim2gene_medgen"} ! XPA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12814 {source="OMIM:278700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -225042,7 +224420,7 @@ xref: SCTID:25784009 {source="MONDO:equivalentTo"} xref: UMLS:C2752147 {source="MEDGEN:416702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019600 {source="DC-OMIM:278720", source="DOID:0110844", source="MESH:C567886", source="NCIT:C114770"} ! xeroderma pigmentosum relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010211 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12816 {source="MONDO:mim2gene_medgen"} ! XPC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12816 {source="OMIM:278720"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -225094,7 +224472,6 @@ is_a: MONDO:0019600 {source="DC-OMIM:278730", source="DOID:0110845", source="MES intersection_of: MONDO:0019600 ! xeroderma pigmentosum intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3434 ! ERCC2 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010212 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3434 {source="MONDO:mim2gene_medgen"} ! ERCC2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -225133,7 +224510,7 @@ xref: SCTID:56048001 {source="MONDO:equivalentTo"} xref: UMLS:C1848411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341219"} is_a: MONDO:0019600 {source="DC-OMIM:278740", source="DOID:0110846", source="MESH:C564732", source="NCIT:C114771"} ! xeroderma pigmentosum relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010213 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2718 {source="MONDO:mim2gene_medgen"} ! DDB2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2718 {source="OMIM:278740"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -225165,7 +224542,7 @@ xref: Orphanet:910 {source="OMIM:278750"} xref: UMLS:C1848410 {source="MEDGEN:376352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019600 {source="DC-OMIM:278750", source="DOID:0110847", source="MESH:C536766", source="NCIT:C141367", source="Orphanet:90342"} ! xeroderma pigmentosum relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010214 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9181 {source="MONDO:mim2gene_medgen"} ! POLH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9181 {source="OMIM:278750"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5630/xeroderma-pigmentosum-variant-type" xsd:anyURI {source="GARD:0005630"} [Term] @@ -225210,7 +224587,6 @@ is_a: MONDO:0019600 {source="DC-OMIM:278760", source="DOID:0110848", source="MES intersection_of: MONDO:0019600 ! xeroderma pigmentosum intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3436 ! ERCC4 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010215 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3436 {source="MONDO:mim2gene_medgen"} ! ERCC4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -225262,7 +224638,6 @@ intersection_of: MONDO:0019600 ! xeroderma pigmentosum intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3437 ! ERCC5 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010216 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:278780"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3437 {source="MONDO:mim2gene_medgen"} ! ERCC5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -225290,7 +224665,6 @@ xref: SCTID:414673004 {source="MONDO:equivalentTo"} xref: UMLS:C0265201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75550"} is_a: MONDO:0002254 {source="NCIT:C84666"} ! syndromic disease is_a: MONDO:0003847 {source="MESH:C535992/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 {source="MONDO:mim2gene_medgen"} ! ERCC6 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8276/de-sanctis-cacchione-syndrome" xsd:anyURI {source="GARD:0008276"} [Term] @@ -225398,7 +224772,7 @@ is_a: MONDO:0017748 {source="Orphanet:3474"} ! inborn disorder of glycosphingoli is_a: MONDO:0019287 {source="MESH:C536729/inferred", source="Orphanet:3474"} ! ectodermal dysplasia syndrome is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8966 {source="MONDO:mim2gene_medgen"} ! PIGL +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8966 {source="OMIM:280000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI @@ -225441,7 +224815,7 @@ intersection_of: MONDO:0017138 ! Opitz G/BBB syndrome intersection_of: has_characteristic HP:0001417 ! X-linked inheritance relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010222 {source="MONDO:CLINGEN"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7095 {source="MONDO:mim2gene_medgen"} ! MID1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7095 {source="OMIM:300000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -225491,7 +224865,6 @@ xref: Orphanet:2508 {source="MONDO:equivalentTo", source="OMIM:300004"} xref: SCTID:763797003 {source="MONDO:equivalentTo"} xref: UMLS:C0796124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163217"} is_a: MONDO:0002254 {source="DOID:0112151", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -225526,7 +224899,6 @@ xref: UMLS:C1848336 {source="MEDGEN:336322", source="MONDO:equivalentTo", source is_a: MONDO:0015612 {source="DC-OMIM:300009", source="DOID:0081453", source="MONDO:Redundant", source="OMIM:300009", source="Orphanet:93622"} ! Dent disease intersection_of: MONDO:0015612 ! Dent disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2023 ! CLCN5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2023 {source="MONDO:mim2gene_medgen"} ! CLCN5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -225553,7 +224925,6 @@ xref: Orphanet:251510 {source="OMIM:300018"} xref: UMLS:C1848296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341190"} is_a: MONDO:0010765 {source="DOID:0111777", source="OMIM:300018", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7960 {source="MONDO:mim2gene_medgen"} ! NR0B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -225580,7 +224951,6 @@ xref: OMIM:300029 {source="DOID:0110414", source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:300029"} xref: UMLS:C1845667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336999"} is_a: MONDO:0019200 {source="DC-OMIM:300029", source="DOID:0110414", source="MESH:C564520", source="MONDO:Redundant", source="OMIM:300029"} ! retinitis pigmentosa -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10295 {source="MONDO:mim2gene_medgen"} ! RPGR [Term] id: MONDO:0010228 @@ -225688,7 +225058,6 @@ xref: UMLS:C2746068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0014097 {source="Orphanet:2301/btnt"} ! congenital short bowel syndrome is_a: MONDO:0017574 {source="Orphanet:2978/btnt"} ! chronic intestinal pseudoobstruction relationship: has_characteristic MONDO:0700005 ! idiopathic -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3017/intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked" xsd:anyURI {source="GARD:0003017"} @@ -225725,7 +225094,6 @@ xref: Orphanet:98892 {source="OMIM:300049"} xref: SCTID:448227009 {source="MONDO:equivalentTo"} xref: UMLS:C1848213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376309"} is_a: MONDO:0020341 {source="DC-OMIM:300049", source="OMIM:300049"} ! periventricular nodular heterotopia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -225780,7 +225148,6 @@ xref: SCTID:702356009 {source="MONDO:equivalentTo"} xref: UMLS:C0796222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163232"} is_a: MONDO:0020119 {source="DC-OMIM:300055", source="DOID:0060827", source="OMIM:300055", source="Orphanet:3077", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6990 {source="MONDO:mim2gene_medgen"} ! MECP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3506/ppm-x-syndrome" xsd:anyURI {source="GARD:0003506"} @@ -225866,7 +225233,6 @@ xref: UMLS:C1848204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019586 {source="DC-OMIM:300066", source="DOID:0111735", source="MONDO:Redundant", source="OMIM:300066"} ! X-linked nonsyndromic hearing loss intersection_of: MONDO:0019586 ! X-linked nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11122 ! SMPX -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11122 {source="MONDO:mim2gene_medgen"} ! SMPX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -225912,7 +225278,6 @@ is_a: MONDO:0015146 {source="Orphanet:2148"} ! classic lissencephaly is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:300067", source="Orphanet:2148/inferred"} ! lissencephaly spectrum disorders is_a: MONDO:0020491 ! subcortical band heterotopia relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2148", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2714 {source="MONDO:mim2gene_medgen"} ! DCX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-x-linked" xsd:anyURI {source="GARD:0006914"} @@ -225948,7 +225313,6 @@ is_a: MONDO:0700243 {source="https://clinicalgenome.org/working-groups/clinical- intersection_of: MONDO:0016293 ! congenital stationary night blindness intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 ! CACNA1F relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 {source="MONDO:mim2gene_medgen"} ! CACNA1F property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI @@ -226095,8 +225459,8 @@ xref: UMLS:C1848137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016160 {source="Orphanet:101039"} ! X-linked intellectual disability-epilepsy syndrome is_a: MONDO:0100062 {source="DC-OMIM:300088", source="DOID:0060848", source="MONDO:Redundant", source="OMIM:300088"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14270 ! PCDH19 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14270 {source="MONDO:mim2gene_medgen"} ! PCDH19 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14270 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14270 {source="OMIM:300088"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -226133,7 +225497,6 @@ xref: Orphanet:43 {source="OMIM:300100"} xref: UMLS:C2026514 {source="MEDGEN:1708324", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018544 {source="Orphanet:139396"} ! adrenoleukodystrophy relationship: has_characteristic HP:0001417 {source="MONDO:HPOA", source="OMIM:300100"} ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/61 {source="MONDO:mim2gene_medgen"} ! ABCD1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9412/childhood-onset-cerebral-x-linked-adrenoleukodystrophy" xsd:anyURI {source="GARD:0009412"} [Term] @@ -226162,7 +225525,6 @@ xref: OMIM:300106 {source="Orphanet:93349/e", source="MONDO:equivalentTo", sourc xref: Orphanet:93349 {source="MONDO:equivalentTo", source="OMIM:300106"} xref: UMLS:C1848097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376281"} is_a: MONDO:0016761 {source="DC-OMIM:300106", source="MONDO:Entailed", source="MONDO:Redundant", source="Orphanet:93349", source="PMID:31633310"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1044 {source="MONDO:mim2gene_medgen"} ! BGN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4979/spondyloepimetaphyseal-dysplasia-x-linked" xsd:anyURI {source="GARD:0004979"} @@ -226195,7 +225557,7 @@ xref: OMIM:300114 {source="MONDO:equivalentTo"} xref: Orphanet:485350 {source="MONDO:equivalentTo"} xref: UMLS:C0796221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:923000"} is_a: MONDO:0020119 {source="DOID:0112060", source="OMIM:300114", source="Orphanet:485350", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2022 {source="MONDO:mim2gene_medgen"} ! CLCN4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2022 {source="OMIM:300114"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6328" xsd:anyURI @@ -226241,7 +225603,6 @@ is_a: MONDO:0002254 {source="https://github.com/monarch-initiative/mondo/issues/ is_a: MONDO:0100195 {source="https://github.com/monarch-initiative/mondo/issues/2045", source="https://github.com/monarch-initiative/mondo/issues/926"} ! X-linked intellectual disability with hypopituitarism relationship: excluded_subClassOf MONDO:0001071 {source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability relationship: excluded_subClassOf MONDO:0020119 {source="https://github.com/monarch-initiative/mondo/issues/2002", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11199 {source="MONDO:mim2gene_medgen"} ! SOX3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -226306,8 +225667,8 @@ xref: OMIM:300143 {source="MONDO:equivalentTo"} xref: UMLS:C5551510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1790509"} is_a: MONDO:0019181 {source="DC-OMIM:300143", source="DOID:0112022", source="MONDO:Redundant", source="OMIM:300143"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5996 ! IL1RAPL1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5996 {source="MONDO:mim2gene_medgen"} ! IL1RAPL1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5996 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5996 {source="OMIM:300143"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -226376,7 +225737,7 @@ relationship: excluded_subClassOf MONDO:0016402 {source="Orphanet:85282", source relationship: excluded_subClassOf MONDO:0016403 {source="Orphanet:85282", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete mitochondrial disease with peripheral neuropathy relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:85282", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300148", source="DC-OMIM:300987", source="DOID:0060801", source="OMIM:300148", source="Orphanet:85282", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3267 {source="MONDO:mim2gene_medgen", source="PMID:30517694"} ! EIF2S3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3267 {source="OMIM:300148"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -226457,7 +225818,7 @@ relationship: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:2712", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0018924 {source="Orphanet:2712", source="https://orcid.org/0000-0001-5208-3432"} ! microphthalmia, Lenz type relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2712", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20893 {source="MONDO:mim2gene_medgen"} ! BCOR +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20893 {source="OMIM:300166"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2999" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -226551,7 +225912,6 @@ is_a: MONDO:0016241 {source="NCIT:C123725"} ! alternating hemiplegia of childhoo relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: has_characteristic HP:0001417 ! X-linked inheritance relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7960 {source="MONDO:mim2gene_medgen"} ! NR0B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -226580,7 +225940,6 @@ xref: UMLS:C1846175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0010731 {source="DC-OMIM:300209", source="MONDO:Redundant"} ! Simpson-Golabi-Behmel syndrome intersection_of: MONDO:0010731 ! Simpson-Golabi-Behmel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2567 ! OFD1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2567 {source="MONDO:mim2gene_medgen"} ! OFD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -226607,8 +225966,8 @@ xref: OMIM:300210 {source="MONDO:equivalentTo"} xref: UMLS:C1846174 {source="MEDGEN:337526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019181 {source="DC-OMIM:300210", source="DOID:0112024", source="MONDO:Redundant", source="OMIM:300210"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11854 ! TSPAN7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11854 {source="MONDO:mim2gene_medgen"} ! TSPAN7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11854 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11854 {source="OMIM:300210"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -226661,7 +226020,6 @@ is_a: MONDO:0000425 {source="DOID:0112238"} ! X-linked disease is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0018838 {source="DOID:0112238", source="MESH:C564563/inferred", source="MONDO:0015147-obsoleted", source="MONDO:Redundant", source="OMIM:300215", source="Orphanet:452/inferred"} ! lissencephaly spectrum disorders relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia" xsd:anyURI {source="GARD:0012491"} @@ -226845,7 +226203,6 @@ xref: Orphanet:83629 {source="OMIM:300660", source="MONDO:equivalentTo"} xref: UMLS:C1846148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335350"} is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="Orphanet:168448", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8768 {source="OMIM:300232"} ! AIFM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI @@ -226901,7 +226258,6 @@ xref: SCTID:718900002 {source="MONDO:equivalentTo"} xref: UMLS:C1846145 {source="MEDGEN:335348", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015159 {source="Orphanet:85286"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="DC-OMIM:300238", source="DOID:0060826", source="OMIM:300238", source="Orphanet:85286", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9910 {source="MONDO:mim2gene_medgen"} ! RBMX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -226951,7 +226307,7 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:85278", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0016612 {source="Orphanet:85278", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked cerebellar ataxia relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300243", source="DOID:0060825", source="OMIM:300243", source="Orphanet:85278", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11079 {source="MONDO:mim2gene_medgen"} ! SLC9A6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11079 {source="OMIM:300243"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10572/christianson-syndrome" xsd:anyURI {source="GARD:0010572"} @@ -226984,7 +226340,6 @@ xref: UMLS:C1846129 {source="MEDGEN:335344", source="MONDO:equivalentTo", source is_a: MONDO:0019690 {source="Orphanet:88630", source="PMID:31633310"} ! filamin-related bone disorder is_a: MONDO:0019695 {source="Orphanet:88630"} ! acromelic dysplasia relationship: excluded_subClassOf MONDO:0019289 {source="Orphanet:88630", source="https://orcid.org/0000-0001-5208-3432"} ! hyperpigmentation of the skin -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI @@ -227066,11 +226421,11 @@ xref: UMLS:C0878677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002412 {source="MESH:D052120", source="NCIT:C84735/inferred", source="Orphanet:34587"} ! disorder of glycogen metabolism is_a: MONDO:0017738 {source="Orphanet:34587", source="https://orcid.org/0000-0001-5208-3432"} ! lysosomal glycogen storage disease intersection_of: MONDO:0017738 ! lysosomal glycogen storage disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6501 ! LAMP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6501 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010281 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0009290 {source="NCIT:C84735", source="https://orcid.org/0000-0001-5208-3432"} ! glycogen storage disease II relationship: excluded_subClassOf MONDO:0016118 {source="Orphanet:34587", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular glycogenosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6501 {source="MONDO:mim2gene_medgen"} ! LAMP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6501 {source="OMIM:300257"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9730/danon-disease" xsd:anyURI {source="GARD:0009730"} @@ -227142,7 +226497,6 @@ is_a: MONDO:0015159 {source="Orphanet:1762"} ! multiple congenital anomalies/dys is_a: MONDO:0017010 {source="Orphanet:1762"} ! partial duplication of the long arm of chromosome X is_a: MONDO:0020119 {source="DC-OMIM:300260", source="DOID:0060799", source="OMIM:300260", source="Orphanet:1762", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: disease_arises_from_structure CHR:9606-chrXq {source="https://orcid.org/0000-0002-4142-7153"} ! Xq (Human) -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6990 {source="MONDO:mim2gene_medgen"} ! MECP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -227183,6 +226537,7 @@ xref: UMLS:C1846057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:85276", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300261", source="DOID:0050764", source="OMIM:300261", source="Orphanet:85276", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18786 {source="OMIM:300261"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -227258,7 +226613,7 @@ xref: UMLS:C1846055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015159 {source="Orphanet:85287"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="DC-OMIM:300263", source="DOID:0060812", source="OMIM:300263", source="Orphanet:85287", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010286 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20672 {source="MONDO:mim2gene_medgen"} ! PHF8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20672 {source="OMIM:300263"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -227374,7 +226729,6 @@ xref: OMIM:300280 {source="MONDO:equivalentTo"} xref: UMLS:C1846010 {source="MEDGEN:335320", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0800462 {source="https://clinicalgenome.org/affiliation/40060/"} ! FHL1-related myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 {source="MONDO:mim2gene_medgen"} ! FHL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI @@ -227449,7 +226803,6 @@ is_a: MONDO:0018542 {source="DC-OMIM:300299", source="DOID:0112128", source="MON intersection_of: MONDO:0018542 ! severe congenital neutropenia intersection_of: has_characteristic HP:0001417 ! X-linked inheritance relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010294 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12731 {source="MONDO:mim2gene_medgen"} ! WAS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked" xsd:anyURI {source="GARD:0003981"} @@ -227478,7 +226831,6 @@ is_a: MONDO:0017198 {source="Orphanet:69088", source="PMID:31633310"} ! osteopet is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019287 {source="MESH:C564538", source="Orphanet:69088"} ! ectodermal dysplasia syndrome is_a: MONDO:0100162 {source="https://orcid.org/0000-0002-7437-8060"} ! IKBKG-related immunodeficiency with or without ectodermal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5961 {source="MONDO:mim2gene_medgen"} ! IKBKG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5520" xsd:anyURI @@ -227505,6 +226857,7 @@ xref: UMLS:C1845903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015977 {source="MESH:C538057", source="MONDO:Redundant", source="OMIM:300310"} ! agammaglobulinemia is_a: MONDO:0021094 {source="OMIM:300310"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010296 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13867 {source="OMIM:300310"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -227523,7 +226876,6 @@ xref: UMLS:C1845902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002010 {source="DC-OMIM:300321", source="MONDO:Redundant", source="OMIM:300321"} ! FG syndrome intersection_of: MONDO:0002010 ! FG syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 ! FLNA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9923/fg-syndrome-2" xsd:anyURI {source="GARD:0009923"} [Term] @@ -227592,7 +226944,6 @@ is_a: MONDO:0016088 {source="Orphanet:510"} ! hypoxanthine-guanine phosphoribosy is_a: MONDO:0019254 {source="DOID:1919", source="MESH:D007926", source="MONDO:Redundant", source="Orphanet:510/inferred"} ! inborn disorder of purine or pyrimidine metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010298 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0100716 {source="MONDO:Wikidata"} ! Self-injurious behavior -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5157 {source="MONDO:mim2gene_medgen"} ! HPRT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -227630,7 +226981,6 @@ xref: Orphanet:79233 {source="MONDO:equivalentTo", source="OMIM:300323"} xref: SCTID:238007004 {source="MONDO:equivalentTo"} xref: UMLS:C0268117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82770"} is_a: MONDO:0016088 {source="Orphanet:79233"} ! hypoxanthine-guanine phosphoribosyltransferase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5157 {source="MONDO:mim2gene_medgen"} ! HPRT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -227769,7 +227119,7 @@ xref: UMLS:C1845862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000456 {source="DOID:0050800", source="OMIM:300352", source="Orphanet:52503"} ! cerebral creatine deficiency syndrome is_a: MONDO:0015159 {source="Orphanet:52503"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010305 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11055 {source="MONDO:mim2gene_medgen"} ! SLC6A8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11055 {source="OMIM:300352"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -227822,7 +227172,7 @@ is_a: MONDO:0015159 {source="Orphanet:85293"} ! multiple congenital anomalies/dy is_a: MONDO:0020119 {source="DC-OMIM:300354", source="DOID:0060822", source="OMIM:300354", source="Orphanet:85293", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010306 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2555 {source="MONDO:mim2gene_medgen"} ! CUL4B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2555 {source="OMIM:300354"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -227865,7 +227215,6 @@ xref: Orphanet:67044 {source="OMIM:300367"} xref: UMLS:C3550789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763703"} is_a: MONDO:0003847 {source="OMIM:300367/inferred"} ! hereditary disease is_a: MONDO:0100241 {source="DC-OMIM:300367", source="OMIM:300367"} ! inherited thrombocytopenia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4170 {source="MONDO:mim2gene_medgen"} ! GATA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -227915,7 +227264,7 @@ xref: Orphanet:2780 {source="OMIM:300373", source="DOID:0060886", source="MONDO: xref: SCTID:254129003 {source="MONDO:equivalentTo"} xref: UMLS:C0432268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96590"} is_a: MONDO:0017198 {source="Orphanet:2780"} ! osteopetrosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26837 {source="MONDO:mim2gene_medgen"} ! AMER1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26837 {source="OMIM:300373"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -227956,7 +227305,6 @@ xref: SCTID:193222002 {source="DOID:9883"} xref: SCTID:387732009 {source="MONDO:equivalentTo"} xref: UMLS:C0917713 {source="MEDGEN:182959", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020121 {source="DOID:9883", source="https://orcid.org/0000-0002-4142-7153"} ! muscular dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2928 {source="MONDO:mim2gene_medgen"} ! DMD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy" xsd:anyURI {source="GARD:0005900"} @@ -228000,8 +227348,8 @@ xref: OMIM:300387 {source="MONDO:equivalentTo"} xref: UMLS:C1845672 {source="MEDGEN:337002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019181 {source="DC-OMIM:300387", source="DOID:0112050", source="MONDO:Redundant", source="OMIM:300387"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3571 ! ACSL4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3571 {source="MONDO:mim2gene_medgen"} ! ACSL4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3571 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3571 {source="OMIM:300387"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -228071,7 +227419,6 @@ is_a: MONDO:0031520 {source="DOID:0060013", source="MONDO:0010315/inferred", sou is_a: MONDO:0044200 {source="Orphanet:276", source="PMID:31953710"} ! T-B+ severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010315 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0004430 ! Severe combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6010 {source="MONDO:mim2gene_medgen"} ! IL2RG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -228128,7 +227475,6 @@ xref: OMIM:300419 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300419"} xref: UMLS:C0796244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208681"} is_a: MONDO:0019181 {source="DC-OMIM:300419", source="DC-OMIM:300504", source="DOID:0112021", source="OMIM:300419", source="OMIM:300504"} ! non-syndromic X-linked intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -228154,7 +227500,6 @@ xref: UMLS:C1845546 {source="MEDGEN:336965", source="MONDO:equivalentTo", source is_a: MONDO:0002010 {source="DC-OMIM:300422", source="MONDO:Redundant", source="OMIM:300422"} ! FG syndrome intersection_of: MONDO:0002010 ! FG syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1497 ! CASK -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1497 {source="MONDO:mim2gene_medgen"} ! CASK property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9925/x-linked-intellectual-disability-with-or-without-nystagmus" xsd:anyURI {source="GARD:0009925"} @@ -228189,7 +227534,6 @@ xref: UMLS:C1845543 {source="MEDGEN:337257", source="MONDO:equivalentTo", source is_a: MONDO:0016160 {source="Orphanet:93952"} ! X-linked intellectual disability-epilepsy syndrome is_a: MONDO:0020119 {source="DOID:0060806", source="MONDO:Redundant", source="OMIM:300423", source="Orphanet:93952/inferred", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0100146 {source="https://clinicalgenome.org/affiliation/40006/"} ! ATP6AP2-related disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18305 {source="MONDO:mim2gene_medgen"} ! ATP6AP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -228217,7 +227561,6 @@ xref: UMLS:C1419610 {source="MEDGEN:238456", source="MONDO:equivalentTo", source is_a: MONDO:0019200 {source="DC-OMIM:300424", source="DOID:0110412", source="MONDO:Redundant", source="OMIM:300424"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2567 ! OFD1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2567 {source="MONDO:mim2gene_medgen"} ! OFD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10391/retinitis-pigmentosa-23" xsd:anyURI {source="GARD:0010391"} @@ -228236,9 +227579,9 @@ xref: Orphanet:106 {source="OMIM:300425"} xref: UMLS:C1845540 {source="MEDGEN:335205", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020836 {source="OMIM:300425"} ! autism, susceptiblity to intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14289 ! NLGN3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14289 intersection_of: predisposes_towards MONDO:0005260 ! autism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14289 {source="MONDO:mim2gene_medgen"} ! NLGN3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14289 {source="OMIM:300425"} relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -228333,7 +227676,6 @@ xref: SCTID:718910006 {source="MONDO:equivalentTo"} xref: UMLS:C1845530 {source="MEDGEN:335202", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020119 {source="DOID:0112126", source="OMIM:300434", source="Orphanet:85288", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29215 {source="MONDO:mim2gene_medgen"} ! SHROOM4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -228362,7 +227704,6 @@ xref: UMLS:C1845526 {source="MEDGEN:337255", source="MONDO:equivalentTo", source is_a: MONDO:0019181 {source="DC-OMIM:300436", source="DOID:0112055", source="MONDO:Redundant", source="OMIM:300436"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/685 ! ARHGEF6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/685 {source="MONDO:mim2gene_medgen"} ! ARHGEF6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -228423,7 +227764,7 @@ is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous s is_a: MONDO:0044970 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mitochondrial disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010327 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:391417", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4800 {source="MONDO:mim2gene_medgen"} ! HSD17B10 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4800 {source="OMIM:300438"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -228460,7 +227801,6 @@ xref: UMLS:C0585216 {source="MEDGEN:108433", source="MONDO:equivalentTo", source is_a: MONDO:0002254 {source="DOID:0112125", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder relationship: excluded_subClassOf MONDO:0021141 {source="https://orcid.org/0000-0001-5208-3432"} ! acquired -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/886 {source="MONDO:mim2gene_medgen"} ! ATRX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI @@ -228577,7 +227917,7 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:52055", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300472", source="DOID:0060816", source="OMIM:300472", source="Orphanet:52055", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0020145 {source="MONDO:0020149-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete developmental defect of the eye -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5461 {source="MONDO:mim2gene_medgen"} ! IGBP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5461 {source="OMIM:300472"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -228609,7 +227949,7 @@ is_a: MONDO:0000761 {source="DC-OMIM:300475"} ! syndrome caused by partial chrom is_a: MONDO:0044807 {source="MONDO:0018265-obsoleted"} ! inherited dystonia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010334 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:369939", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16695 {source="MONDO:mim2gene_medgen"} ! BCAP31 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16695 {source="OMIM:300475"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -228635,7 +227975,6 @@ is_a: MONDO:0700243 {source="https://clinicalgenome.org/working-groups/clinical- intersection_of: MONDO:0021155 ! X-linked cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 ! CACNA1F relationship: has_characteristic HP:0001417 {source="OMIM:300476"} ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 {source="MONDO:mim2gene_medgen"} ! CACNA1F property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10654/cone-rod-dystrophy-x-linked-3" xsd:anyURI {source="GARD:0010654"} @@ -228725,7 +228064,7 @@ is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:137831", source= relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010337 {source="MONDO:CLINGEN"} relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8148 {source="MONDO:mim2gene_medgen"} ! OPHN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8148 {source="OMIM:300486"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9947/mental-retardation-x-linked-with-cerebellar-hypoplasia-and-distinctive-facial-appearance" xsd:anyURI {source="GARD:0009947"} @@ -228771,7 +228110,6 @@ intersection_of: MONDO:0001516 ! spinal muscular atrophy intersection_of: has_characteristic HP:0001417 ! X-linked inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/869 ! ATP7A relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010338 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/869 {source="MONDO:mim2gene_medgen"} ! ATP7A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -228804,7 +228142,6 @@ relationship: excluded_subClassOf MONDO:0002254 {source="https://orcid.org/0000- relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:85294", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:85294", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11494 {source="MONDO:mim2gene_medgen"} ! SYN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -228825,7 +228162,6 @@ is_a: MONDO:0020573 {source="OMIM:300494"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14289 ! NLGN3 intersection_of: predisposes_towards MONDO:0005259 ! Asperger syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14289 {source="MONDO:mim2gene_medgen"} ! NLGN3 relationship: predisposes_towards MONDO:0005259 ! Asperger syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -228851,7 +228187,6 @@ is_a: MONDO:0020836 {source="OMIM:300495"} ! autism, susceptiblity to intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14287 ! NLGN4X intersection_of: predisposes_towards MONDO:0005260 ! autism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14287 {source="MONDO:mim2gene_medgen"} ! NLGN4X relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -228872,7 +228207,6 @@ is_a: MONDO:0020836 {source="OMIM:300496"} ! autism, susceptiblity to intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6990 ! MECP2 intersection_of: predisposes_towards MONDO:0005260 ! autism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6990 {source="MONDO:mim2gene_medgen"} ! MECP2 relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -228892,7 +228226,6 @@ xref: Orphanet:1162 {source="OMIM:300497"} intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14287 ! NLGN4X intersection_of: predisposes_towards MONDO:0005259 ! Asperger syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14287 {source="MONDO:mim2gene_medgen"} ! NLGN4X property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -228918,7 +228251,6 @@ xref: UMLS:C1845333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019181 {source="DC-OMIM:300498", source="DOID:0112028", source="MONDO:Redundant", source="OMIM:300498"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13156 ! ZNF81 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13156 {source="MONDO:mim2gene_medgen"} ! ZNF81 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -228996,7 +228328,6 @@ is_a: MONDO:0005387 {source="OMIM:300510"} ! primary ovarian failure is_a: MONDO:0009299 {source="DOID:0080494", source="OMIM:300510", source="Orphanet:243/btnt"} ! 46 XX gonadal dysgenesis intersection_of: MONDO:0005387 ! primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1068 ! BMP15 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1068 {source="MONDO:mim2gene_medgen"} ! BMP15 [Term] id: MONDO:0010350 @@ -229020,8 +228351,8 @@ xref: UMLS:C1845293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="MESH:C564498/inferred"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:300511", source="MESH:C564498", source="OMIM:300511"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2877 ! DIAPH2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2877 {source="MONDO:mim2gene_medgen"} ! DIAPH2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2877 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2877 {source="OMIM:300511"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -229053,7 +228384,7 @@ xref: Orphanet:84 {source="OMIM:300514"} xref: UMLS:C1845292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336901"} is_a: MONDO:0019391 {source="DC-OMIM:300514", source="DOID:0111098", source="MESH:C564497", source="NCIT:C125703", source="OMIM:300514"} ! Fanconi anemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010351 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3583 {source="MONDO:mim2gene_medgen"} ! FANCB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3583 {source="OMIM:300514"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -229165,7 +228496,7 @@ relationship: excluded_subClassOf MONDO:0016412 {source="Orphanet:59", source="h relationship: excluded_subClassOf MONDO:0017226 {source="Orphanet:59", source="https://orcid.org/0000-0001-5208-3432"} ! Pelizaeus-Merzbacher-like disease relationship: excluded_subClassOf MONDO:0017916 {source="Orphanet:59", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete pure or complex X-linked spastic paraplegia relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:59", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10923 {source="MONDO:mim2gene_medgen"} ! SLC16A2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10923 {source="OMIM:300523"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5617/allan-herndon-dudley-syndrome" xsd:anyURI {source="GARD:0005617"} @@ -229202,7 +228533,7 @@ xref: UMLS:C1845243 {source="MEDGEN:335139", source="MONDO:equivalentTo", source is_a: MONDO:0015159 {source="Orphanet:85279"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="DC-OMIM:300534", source="DOID:0060809", source="OMIM:300534", source="Orphanet:85279", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:85279", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11114 {source="MONDO:mim2gene_medgen"} ! KDM5C +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11114 {source="OMIM:300534"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -229231,7 +228562,6 @@ xref: SCTID:723440000 {source="MONDO:equivalentTo"} xref: UMLS:C1845202 {source="MEDGEN:336877", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder is_a: MONDO:0015962 {source="Orphanet:93606"} ! inherited renal tubular disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/897 {source="MONDO:mim2gene_medgen"} ! AVPR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -229268,7 +228598,6 @@ is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder intersection_of: MONDO:0000044 ! hereditary hypophosphatemic rickets intersection_of: has_characteristic HP:0001419 ! X-linked recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2023 ! CLCN5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2023 {source="MONDO:mim2gene_medgen"} ! CLCN5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -229300,7 +228629,6 @@ xref: UMLS:C1845167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015612 {source="DC-OMIM:300555", source="DOID:0081454", source="MONDO:Redundant", source="OMIM:300555", source="Orphanet:93623"} ! Dent disease intersection_of: MONDO:0015612 ! Dent disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8108 ! OCRL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8108 {source="MONDO:mim2gene_medgen"} ! OCRL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -229345,8 +228673,8 @@ xref: Orphanet:777 {source="OMIM:300558"} xref: UMLS:C0796237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163235"} is_a: MONDO:0019181 {source="DC-OMIM:300558", source="DOID:0112051", source="MONDO:Redundant", source="OMIM:300558"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8592 ! PAK3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8592 {source="MONDO:mim2gene_medgen"} ! PAK3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8592 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8592 {source="OMIM:300558"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -229398,9 +228726,9 @@ xref: Orphanet:715 {source="MONDO:equivalentTo", source="DOID:0111040", source=" xref: UMLS:C1845151 {source="MEDGEN:335112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002412 {source="OMIM:300559", source="PMID:33340416"} ! disorder of glycogen metabolism intersection_of: MONDO:0002412 {source="MONDO:mim2gene_medgen"} ! disorder of glycogen metabolism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8925 {source="MONDO:mim2gene_medgen"} ! PHKA1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8925 {source="MONDO:mim2gene_medgen"} relationship: disease_disrupts GO:0004689 ! phosphorylase kinase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8925 {source="MONDO:mim2gene_medgen", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! PHKA1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8925 {source="OMIM:300559"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3858/muscular-phosphorylase-kinase-deficiency" xsd:anyURI {source="GARD:0003858"} @@ -229428,7 +228756,6 @@ xref: UMLS:C1845142 {source="MEDGEN:375592", source="MONDO:equivalentTo", source is_a: MONDO:0019181 {source="DC-OMIM:300577", source="DOID:0112043", source="MONDO:Redundant", source="OMIM:300577"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20342 ! ZDHHC15 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20342 {source="MONDO:mim2gene_medgen"} ! ZDHHC15 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -229579,7 +228906,6 @@ is_a: MONDO:0016033 {source="DC-OMIM:300590", source="DOID:0080506", source="MON is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0016033 ! Cornelia de Lange syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11111 ! SMC1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11111 {source="MONDO:mim2gene_medgen"} ! SMC1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -229614,7 +228940,6 @@ is_a: MONDO:0005283 {source="https://orcid.org/0000-0001-5208-3432"} ! retinal d is_a: MONDO:0700243 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! CACNA1F-related retinopathy relationship: excluded_subClassOf MONDO:0019118 {source="Orphanet:178333", source="https://orcid.org/0000-0001-5208-3432"} ! inherited retinal dystrophy relationship: has_characteristic HP:0001417 {source="Orphanet:178333", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 {source="MONDO:mim2gene_medgen"} ! CACNA1F property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -229647,8 +228972,8 @@ xref: UMLS:C1845105 {source="MEDGEN:337159", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:300604", source="MESH:C564476", source="OMIM:300604"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13711 ! POF1B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13711 {source="MONDO:mim2gene_medgen"} ! POF1B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13711 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13711 {source="OMIM:300604"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -229701,7 +229026,7 @@ is_a: MONDO:0005395 {source="MONDO:Redundant", source="Orphanet:163985"} ! movem is_a: MONDO:0016160 {source="Orphanet:163985"} ! X-linked intellectual disability-epilepsy syndrome is_a: MONDO:0017658 {source="MONDO:Redundant", source="Orphanet:163985"} ! hyperekplexia is_a: MONDO:0100062 {source="DC-OMIM:300607", source="DOID:0080215", source="OMIM:300607"} ! developmental and epileptic encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14561 {source="MONDO:mim2gene_medgen"} ! ARHGEF9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14561 {source="OMIM:300607"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -229759,7 +229084,6 @@ is_a: MONDO:0019586 {source="DC-OMIM:300614", source="OMIM:300614"} ! X-linked n is_a: MONDO:0021944 {source="OMIM:300614"} ! auditory neuropathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010378 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8768 {source="MONDO:mim2gene_medgen"} ! AIFM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12731/x-linked-hereditary-sensory-and-autonomic-neuropathy-with-deafness" xsd:anyURI {source="GARD:0012731"} @@ -229795,7 +229119,6 @@ is_a: MONDO:0019219 {source="Orphanet:3057"} ! inborn disorder of neurotransmitt is_a: MONDO:0020605 {source="DOID:0060693"} ! X-linked recessive disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010379 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0001419 ! X-linked recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6833 {source="MONDO:mim2gene_medgen"} ! MAOA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -229825,7 +229148,6 @@ xref: MESH:C562719 {source="MONDO:equivalentTo"} xref: OMIM:300622 {source="MONDO:equivalentTo"} xref: UMLS:C0272137 {source="MEDGEN:82896", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24338 {source="MONDO:mim2gene_medgen"} ! C1GALT1C1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -229859,7 +229181,6 @@ xref: UMLS:C1839780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="NCIT:C126566"} ! syndromic disease is_a: MONDO:0005395 {source="Orphanet:93256"} ! movement disorder is_a: MONDO:0016612 {source="DOID:0050879", source="Orphanet:93256"} ! X-linked cerebellar ataxia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3945 {source="MONDO:mim2gene_medgen", source="https://www.fragilex.org.uk/"} ! FRAXA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4883" xsd:anyURI @@ -229921,7 +229242,6 @@ relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000- relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:908", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity relationship: excluded_subClassOf MONDO:0017656 {source="Orphanet:908", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete motor stereotypies relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300624", source="Orphanet:908", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3945 {source="MONDO:mim2gene_medgen", source="https://www.fragilex.org.uk/"} ! FRAXA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1766" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4883" xsd:anyURI @@ -229944,7 +229264,6 @@ xref: OMIM:300633 {source="MONDO:equivalentTo"} xref: Orphanet:440 {source="OMIM:300633"} xref: UMLS:C2678098 {source="MEDGEN:394735", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005345 {source="DC-OMIM:300633", source="MESH:C567482", source="OMIM:300633"} ! hypospadias -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/644 {source="MONDO:mim2gene_medgen"} ! AR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -229982,10 +229301,10 @@ is_a: MONDO:0016537 {source="DOID:0060706", source="MESH:C564469", source="MONDO is_a: MONDO:0020605 {source="DOID:0060706"} ! X-linked recessive disease is_a: MONDO:0021094 {source="MONDO:Redundant", source="NCIT:C126295"} ! immunodeficiency disease intersection_of: MONDO:0010627 ! X-linked lymphoproliferative syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/592 ! XIAP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/592 relationship: has_characteristic HP:0001417 {source="MONDO:HPOA", source="OMIM:300635"} ! X-linked inheritance relationship: has_characteristic HP:0001419 {source="Orphanet:538934"} ! X-linked recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/592 {source="MONDO:mim2gene_medgen", source="Orphanet:538934"} ! XIAP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/592 {source="OMIM:300635"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10916/x-linked-lymphoproliferative-syndrome-2" xsd:anyURI {source="GARD:0010916"} @@ -230038,7 +229357,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0021094 {source="OMIM:300636"} ! immunodeficiency disease is_a: MONDO:0100162 {source="https://orcid.org/0000-0002-7437-8060"} ! IKBKG-related immunodeficiency with or without ectodermal dysplasia relationship: excluded_subClassOf MONDO:0017905 {source="Orphanet:319612", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked Mendelian susceptibility to mycobacterial diseases -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5961 {source="MONDO:mim2gene_medgen"} ! IKBKG property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5520" xsd:anyURI @@ -230074,7 +229392,7 @@ xref: OMIM:300643 {source="MONDO:equivalentTo"} xref: Orphanet:163721 {source="OMIM:300643"} xref: UMLS:C1845070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337150"} is_a: MONDO:0015587 {source="Orphanet:163721/btnt"} ! rolandic epilepsy-speech dyspraxia syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30668 {source="MONDO:mim2gene_medgen"} ! SRPX2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30668 {source="OMIM:300643"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -230108,7 +229426,6 @@ is_a: MONDO:0017905 {source="Orphanet:319623", source="https://orcid.org/0000-00 intersection_of: MONDO:0017905 ! X-linked Mendelian susceptibility to mycobacterial diseases intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2578 ! CYBB relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2578 {source="MONDO:mim2gene_medgen"} ! CYBB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -230190,11 +229507,11 @@ is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:713"} ! disorder is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0019052 {source="MESH:C567067", source="MONDO:Redundant", source="NCIT:C126738", source="Orphanet:713/inferred"} ! inborn errors of metabolism intersection_of: MONDO:0002412 ! disorder of glycogen metabolism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8896 ! PGK1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8896 relationship: excluded_subClassOf MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia relationship: excluded_subClassOf MONDO:0016118 {source="Orphanet:713", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular glycogenosis relationship: excluded_subClassOf MONDO:0020585 {source="https://orcid.org/0000-0001-5208-3432"} ! anemia due to erythrocyte enzyme disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8896 {source="MONDO:mim2gene_medgen"} ! PGK1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8896 {source="OMIM:300653"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -230223,8 +229540,8 @@ xref: OMIM:300659 {source="MONDO:equivalentTo"} xref: UMLS:C1970841 {source="MEDGEN:410164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019181 {source="DC-OMIM:300659", source="DOID:0112045", source="MONDO:Redundant", source="OMIM:300659"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17342 ! BRWD3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17342 {source="MONDO:mim2gene_medgen"} ! BRWD3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17342 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17342 {source="OMIM:300659"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -230264,7 +229581,6 @@ is_a: MONDO:0019236 {source="Orphanet:3222"} ! inborn disorder of purine metabol relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010395 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0004749 ! ribose phosphate diphosphokinase activity relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:3222", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9462 {source="MONDO:mim2gene_medgen"} ! PRPS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -230299,8 +229615,8 @@ is_a: MONDO:0017746 {source="Orphanet:3095/btnt"} ! atypical Rett syndrome is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome is_a: MONDO:0100062 {source="DC-OMIM:300672", source="DOID:0080467", source="MONDO:Redundant", source="OMIM:300672"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11411 ! CDKL5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11411 {source="MONDO:mim2gene_medgen", source="Orphanet:505652"} ! CDKL5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11411 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11411 {source="OMIM:300672"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -230331,7 +229647,6 @@ is_a: MONDO:0015653 {source="Orphanet:209370"} ! monogenic epilepsy is_a: MONDO:0020070 {source="Orphanet:209370"} ! neonatal epilepsy syndrome is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy relationship: has_characteristic HP:0003623 {source="NCIT:C132293"} ! Neonatal onset -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6990 {source="MONDO:mim2gene_medgen"} ! MECP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI @@ -230363,8 +229678,8 @@ xref: Orphanet:776 {source="OMIM:300676", source="DOID:0060821"} xref: UMLS:C1970822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372646"} is_a: MONDO:0020119 {source="DOID:0060821", source="MONDO:Redundant", source="OMIM:300676", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability intersection_of: MONDO:0020119 ! X-linked syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20439 ! UPF3B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20439 {source="MONDO:mim2gene_medgen"} ! UPF3B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20439 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20439 {source="OMIM:300676"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -230425,7 +229740,6 @@ xref: UMLS:C2678061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000727 {source="DC-OMIM:300695"} ! scapuloperoneal myopathy is_a: MONDO:0016106 ! progressive muscular dystrophy relationship: disease_has_feature HP:0100306 ! Muscle fiber hyaline bodies -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 {source="MONDO:mim2gene_medgen"} ! FHL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -230456,7 +229770,6 @@ xref: Orphanet:98863 {source="OMIM:300696"} xref: UMLS:C2678055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395525"} is_a: MONDO:0010680 {source="https://orcid.org/0000-0001-5493-2602"} ! X-linked Emery-Dreifuss muscular dystrophy is_a: MONDO:0016830 {source="DC-OMIM:300696", source="OMIM:300696"} ! Emery-Dreifuss muscular dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 {source="MONDO:mim2gene_medgen"} ! FHL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6738" xsd:anyURI @@ -230489,7 +229802,7 @@ xref: OMIM:300699 {source="MONDO:equivalentTo", source="DOID:0060823"} xref: Orphanet:364028 {source="DOID:0060823", source="OMIM:300699"} xref: UMLS:C2678051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:437111"} is_a: MONDO:0020119 {source="DOID:0060823", source="OMIM:300699"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4573 {source="MONDO:mim2gene_medgen"} ! GRIA3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4573 {source="OMIM:300699"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -230629,7 +229942,7 @@ xref: SCTID:725912001 {source="MONDO:equivalentTo"} xref: UMLS:C2678046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394425"} is_a: MONDO:0000001 {source="OMIM:309590"} ! disease is_a: MONDO:0020119 {source="DC-OMIM:300706", source="DOID:0060811", source="DOID:0060829", source="OMIM:300612", source="OMIM:300706", source="OMIM:309590", source="Orphanet:3056", source="Orphanet:85328", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30892 {source="MONDO:mim2gene_medgen"} ! HUWE1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30892 {source="OMIM:309590"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -230665,7 +229978,7 @@ is_a: MONDO:0002254 {source="DOID:0111931", source="https://orcid.org/0000-0002- is_a: MONDO:0015161 {source="Orphanet:140952"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28434 {source="MONDO:mim2gene_medgen"} ! CCNQ +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28434 {source="OMIM:300707"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -230779,7 +230092,6 @@ xref: OMIM:300717 {source="MONDO:equivalentTo"} xref: Orphanet:97239 {source="OMIM:300717"} xref: UMLS:C4225423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906731"} is_a: MONDO:0019948 {source="Orphanet:97239/btnt"} ! reducing body myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 {source="MONDO:mim2gene_medgen"} ! FHL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -230798,7 +230110,6 @@ xref: OMIM:300718 {source="MONDO:equivalentTo"} xref: Orphanet:97239 {source="OMIM:300718"} xref: UMLS:C4225159 {source="MEDGEN:904593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019948 {source="Orphanet:97239/btnt"} ! reducing body myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 {source="MONDO:mim2gene_medgen"} ! FHL1 [Term] id: MONDO:0010416 @@ -230848,7 +230159,6 @@ is_a: MONDO:0020022 ! central nervous system malformation is_a: MONDO:0020119 {source="DC-OMIM:300749", source="DOID:0060807", source="OMIM:300749", source="Orphanet:163937", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:163937", source="Orphanet:163937/inferred"} ! disorder of development or morphogenesis relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1497 {source="MONDO:mim2gene_medgen"} ! CASK property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -230924,7 +230234,6 @@ is_a: MONDO:0001676 {source="DC-OMIM:300752", source="MESH:C567464", source="MON intersection_of: MONDO:0001676 ! erythropoietic protoporphyria intersection_of: has_characteristic HP:0001417 ! X-linked inheritance relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010420 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/397 {source="MONDO:mim2gene_medgen"} ! ALAS2 [Term] id: MONDO:0010421 @@ -230975,7 +230284,6 @@ is_a: MONDO:0016462 {source="Orphanet:47"} ! isolated agammaglobulinemia is_a: MONDO:0021094 {source="OMIM:300755"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010421 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0002721 {source="OMIM:300755"} ! Immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1133 {source="MONDO:mim2gene_medgen"} ! BTK property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231010,7 +230318,7 @@ xref: OMIM:300758 {source="MONDO:equivalentTo"} xref: Orphanet:440 {source="OMIM:300758"} xref: UMLS:C2677879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:437064"} is_a: MONDO:0005345 {source="DC-OMIM:300758", source="MESH:C567462", source="OMIM:300758"} ! hypospadias -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2568 {source="MONDO:mim2gene_medgen"} ! MAMLD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2568 {source="OMIM:300758"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231032,6 +230340,7 @@ xref: OMIM:300770 {source="MONDO:equivalentTo"} xref: Orphanet:264675 {source="OMIM:300770"} xref: UMLS:C2677877 {source="MEDGEN:393858", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0012580 {source="OMIM:300770", source="Orphanet:264675/btnt"} ! hereditary pulmonary alveolar proteinosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2435 {source="OMIM:300770"} [Term] id: MONDO:0010425 @@ -231117,7 +230426,7 @@ xref: Orphanet:163953 {source="DOID:0060824", source="OMIM:300799"} xref: UMLS:C3275406 {source="MEDGEN:477037", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020119 {source="DC-OMIM:300799", source="DOID:0060824", source="OMIM:300799", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010427 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18475 {source="MONDO:mim2gene_medgen"} ! ZDHHC9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18475 {source="OMIM:300799"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -231177,8 +230486,8 @@ xref: OMIM:300802 {source="MONDO:equivalentTo"} xref: UMLS:C3275408 {source="MEDGEN:477039", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019181 {source="DC-OMIM:300802", source="DOID:0112035", source="MONDO:Redundant", source="OMIM:300802"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11506 ! SYP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11506 {source="MONDO:mim2gene_medgen"} ! SYP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11506 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11506 {source="OMIM:300802"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231207,8 +230516,8 @@ xref: OMIM:300803 {source="MONDO:equivalentTo"} xref: UMLS:C2749020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440689"} is_a: MONDO:0019181 {source="DC-OMIM:300803", source="DOID:0112046", source="MONDO:Redundant", source="OMIM:300803"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13128 ! ZNF711 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13128 {source="MONDO:mim2gene_medgen"} ! ZNF711 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13128 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13128 {source="OMIM:300803"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231234,7 +230543,6 @@ xref: UMLS:C2749019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018772 {source="DOID:0110981", source="MONDO:Redundant", source="OMIM:300804"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2567 ! OFD1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2567 {source="MONDO:mim2gene_medgen"} ! OFD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231260,7 +230568,6 @@ xref: UMLS:C2749016 {source="MEDGEN:411730", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="MESH:C567581/inferred", source="MONDO:Redundant"} ! hereditary disease is_a: MONDO:0100240 {source="DC-OMIM:300807", source="MESH:C567581", source="OMIM:300807"} ! inherited thrombophilia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010432 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3551 {source="MONDO:mim2gene_medgen"} ! F9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231316,6 +230623,7 @@ xref: UMLS:C0039101 {source="MEDGEN:21050", source="MONDO:equivalentTo", source= is_a: MONDO:0005089 {source="DC-OMIM:300813", source="EFO:0001376", source="MESH:D013584", source="MONDO:Redundant", source="NCIT:C3400/inferred"} ! sarcoma is_a: MONDO:0018078 {source="NCIT:C3400", source="Orphanet:3273"} ! soft tissue sarcoma relationship: excluded_subClassOf MONDO:0002403 {source="DOID:5485", source="https://orcid.org/0000-0001-5208-3432"} ! synovium cancer +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11336 {source="OMIM:300813"} property_value: IAO:0000589 "synovial sarcoma (disease)" xsd:string [Term] @@ -231333,7 +230641,6 @@ xref: Orphanet:651 {source="OMIM:300814"} xref: UMLS:C3151752 {source="MEDGEN:463102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005712 {source="DC-OMIM:300814", source="DOID:0111795", source="OMIM:300814"} ! congenital nystagmus is_a: MONDO:0700230 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! GPR143-related foveal hypoplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20145 {source="MONDO:mim2gene_medgen"} ! GPR143 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI @@ -231443,6 +230750,7 @@ xref: OMIM:300830 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:300830"} xref: UMLS:C0795888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162886"} is_a: MONDO:0020836 {source="OMIM:300830"} ! autism, susceptiblity to +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26392 {source="OMIM:300830"} relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3775/x-linked-susceptibility-to-autism-4" xsd:anyURI {source="GARD:0003775"} @@ -231472,7 +230780,6 @@ xref: UMLS:C3151781 {source="MEDGEN:463131", source="MONDO:equivalentTo", source is_a: MONDO:0000508 {source="Orphanet:251383", source="Orphanet:251383/inferred", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:251383", source="Orphanet:251383/inferred"} ! disorder of development or morphogenesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010441 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13398 {source="MONDO:mim2gene_medgen"} ! NSDHL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -231513,7 +230820,6 @@ xref: MEDGEN:463134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300834 {source="MONDO:equivalentTo"} xref: UMLS:C3151784 {source="MONDO:equivalentTo", source="MEDGEN:463134", source="MONDO:MEDGEN"} is_a: MONDO:0015993 ! cone-rod dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10295 {source="MONDO:mim2gene_medgen"} ! RPGR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231537,7 +230843,6 @@ xref: Orphanet:363727 {source="MONDO:equivalentTo", source="OMIM:300835"} xref: UMLS:C3550856 {source="MEDGEN:763770", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019403 {source="Orphanet:363727"} ! congenital dyserythropoietic anemia is_a: MONDO:0100089 {source="https://github.com/monarch-initiative/mondo/issues/1018"} ! GATA1-Related X-Linked Cytopenia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4170 {source="MONDO:mim2gene_medgen"} ! GATA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231598,7 +230903,6 @@ xref: UMLS:C0796225 {source="MEDGEN:208676", source="MONDO:equivalentTo", source is_a: MONDO:0019181 {source="DC-OMIM:300844", source="DOID:0112019", source="MONDO:Redundant", source="OMIM:300844"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10432 ! RPS6KA3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10432 {source="MONDO:mim2gene_medgen"} ! RPS6KA3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231644,7 +230948,6 @@ is_a: MONDO:0020836 {source="OMIM:300847"} ! autism, susceptiblity to intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10298 ! RPL10 intersection_of: predisposes_towards MONDO:0005260 ! autism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10298 {source="MONDO:mim2gene_medgen"} ! RPL10 [Term] id: MONDO:0010450 @@ -231690,8 +230993,8 @@ xref: OMIM:300849 {source="MONDO:equivalentTo"} xref: UMLS:C3887939 {source="MEDGEN:854647", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019181 {source="DC-OMIM:300849", source="DOID:0112058", source="MONDO:Redundant", source="OMIM:300849"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4226 ! GDI1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4226 {source="MONDO:mim2gene_medgen"} ! GDI1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4226 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4226 {source="OMIM:300849"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231716,8 +231019,8 @@ xref: OMIM:300850 {source="MONDO:equivalentTo"} xref: UMLS:C3275443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477074"} is_a: MONDO:0019181 {source="DC-OMIM:300850", source="DOID:0112041", source="MONDO:Redundant", source="OMIM:300850"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2902 ! DLG3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2902 {source="MONDO:mim2gene_medgen"} ! DLG3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2902 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2902 {source="OMIM:300850"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231787,7 +231090,6 @@ xref: SCTID:711481001 {source="MONDO:equivalentTo"} xref: UMLS:C3275445 {source="MEDGEN:477076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015131 {source="DOID:0080319", source="https://orcid.org/0000-0001-5208-3432"} ! combined immunodeficiency relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:317476", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28880 {source="MONDO:mim2gene_medgen"} ! MAGT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231805,7 +231107,6 @@ xref: OMIM:300854 {source="MONDO:equivalentTo"} xref: Orphanet:319308 {source="OMIM:300854"} xref: UMLS:C3275446 {source="MEDGEN:477077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017886 {source="Orphanet:319308/btnt"} ! MIT family translocation renal cell carcinoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11752 {source="MONDO:mim2gene_medgen"} ! TFE3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231847,7 +231148,6 @@ is_a: MONDO:0015333 {source="Orphanet:276432", source="https://orcid.org/0000-00 is_a: MONDO:0021147 {source="Orphanet:276432", source="Orphanet:276432/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0100124 {source="https://clinicalgenome.org/affiliation/40006/"} ! NAA10-related syndrome relationship: disease_has_basis_in_disruption_of GO:0008080 ! N-acetyltransferase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18704 {source="MONDO:mim2gene_medgen"} ! NAA10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -231891,9 +231191,9 @@ xref: Orphanet:803 {source="OMIM:300857"} xref: UMLS:C3275459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477090"} is_a: MONDO:0005144 {source="DOID:0060206", source="MONDO:Redundant", source="OMIM:300857"} ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12509 ! UBQLN2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12509 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010459 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12509 {source="MONDO:mim2gene_medgen"} ! UBQLN2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12509 {source="OMIM:300857"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231959,7 +231259,7 @@ xref: Orphanet:163956 {source="DOID:0060820", source="MONDO:equivalentTo", sourc xref: UMLS:C3275464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477095"} is_a: MONDO:0020119 {source="DC-OMIM:300860", source="DOID:0060820", source="OMIM:300860", source="Orphanet:163956", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010461 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12472 {source="MONDO:mim2gene_medgen"} ! UBE2A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12472 {source="OMIM:300860"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -232009,7 +231309,7 @@ xref: SCTID:719837003 {source="MONDO:equivalentTo"} xref: UMLS:C3275476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477107"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:163966", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14064 {source="MONDO:mim2gene_medgen"} ! HDAC6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14064 {source="OMIM:300863"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232057,7 +231357,7 @@ xref: Orphanet:2322 {source="OMIM:300867"} xref: UMLS:C3275495 {source="MONDO:equivalentTo", source="MEDGEN:477126", source="MONDO:MEDGEN"} is_a: MONDO:0016512 {source="DC-OMIM:300867", source="OMIM:300867"} ! Kabuki syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010465 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12637 {source="MONDO:mim2gene_medgen"} ! KDM6A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12637 {source="OMIM:300867"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232099,7 +231399,6 @@ is_a: MONDO:0100247 {source="DOID:0080139", source="MONDO:Redundant", source="OM intersection_of: MONDO:0100247 ! multiple congenital anomalies-hypotonia-seizures syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8957 ! PIGA relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8957 {source="MONDO:mim2gene_medgen"} ! PIGA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -232166,7 +231465,7 @@ xref: Orphanet:106 {source="OMIM:300872"} xref: UMLS:C3550875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763789"} is_a: MONDO:0020573 {source="OMIM:300872"} ! inherited disease susceptibility is_a: MONDO:0020836 {source="OMIM:300872"} ! autism, susceptiblity to -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18308 {source="MONDO:mim2gene_medgen"} ! TMLHE +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18308 {source="OMIM:300872"} relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -232198,6 +231497,7 @@ xref: Orphanet:199 {source="OMIM:300882"} xref: UMLS:C3550903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763817"} is_a: MONDO:0016033 {source="DC-OMIM:300882", source="DOID:0080509", source="OMIM:300882"} ! Cornelia de Lange syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13315 {source="OMIM:300882"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -232236,7 +231536,7 @@ is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:324422"} ! disorder of protein N-glycosylation is_a: MONDO:0100062 {source="DOID:0080470", source="OMIM:300884"} ! developmental and epileptic encephalopathy relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30881 {source="MONDO:mim2gene_medgen"} ! ALG13 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30881 {source="OMIM:300884"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232262,7 +231562,6 @@ xref: OMIM:300886 {source="Orphanet:324410", source="MONDO:equivalentTo", source xref: Orphanet:324410 {source="MONDO:equivalentTo", source="OMIM:300886", source="DOID:0060828"} xref: UMLS:C3550913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763827"} is_a: MONDO:0020119 {source="DC-OMIM:300886", source="DOID:0060828", source="OMIM:300886", source="Orphanet:324410", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2063 {source="MONDO:mim2gene_medgen"} ! CLIC2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -232288,8 +231587,8 @@ xref: Orphanet:2556 {source="OMIM:300887"} xref: UMLS:C3550921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763835"} is_a: MONDO:0010672 {source="DOID:0111877", source="MONDO:Redundant", source="OMIM:300887", source="Orphanet:2556/btnt"} ! linear skin defects with multiple congenital anomalies intersection_of: MONDO:0010672 ! linear skin defects with multiple congenital anomalies -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2291 ! COX7B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2291 {source="MONDO:mim2gene_medgen"} ! COX7B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2291 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2291 {source="OMIM:300887"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232323,7 +231622,7 @@ is_a: MONDO:0000425 {source="DOID:0111140"} ! X-linked disease is_a: MONDO:0002254 {source="DOID:0111140", source="NCIT:C130989"} ! syndromic disease is_a: MONDO:0016410 {source="Orphanet:329235"} ! central congenital hypothyroidism relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5948 {source="MONDO:mim2gene_medgen"} ! IGSF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5948 {source="OMIM:300888"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -232361,8 +231660,8 @@ xref: SCTID:732959007 {source="MONDO:equivalentTo"} xref: UMLS:C3550973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763887"} is_a: MONDO:0018307 {source="DC-OMIM:300894", source="DOID:0110739", source="MONDO:Redundant", source="OMIM:300894", source="Orphanet:329284"} ! neurodegeneration with brain iron accumulation intersection_of: MONDO:0018307 ! neurodegeneration with brain iron accumulation -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28912 ! WDR45 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28912 {source="MONDO:mim2gene_medgen"} ! WDR45 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28912 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28912 {source="OMIM:300894"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232393,7 +231692,6 @@ xref: SCTID:699297004 {source="MONDO:equivalentTo"} xref: UMLS:C3698541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:785805"} is_a: MONDO:0000734 {source="DC-OMIM:300895"} ! Ohdo syndrome and variants is_a: MONDO:0100000 ! MED12-related intellectual disability syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11957 {source="MONDO:mim2gene_medgen"} ! MED12 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232432,7 +231730,7 @@ is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenita is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017749 {source="Orphanet:356961"} ! disorder of multiple glycosylation relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11022 {source="MONDO:mim2gene_medgen"} ! SLC35A2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11022 {source="OMIM:300896"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12403/slc35a2-cdg" xsd:anyURI {source="GARD:0012403"} @@ -232466,6 +231764,7 @@ xref: SCTID:763347000 {source="MONDO:equivalentTo"} xref: UMLS:C3806702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813032"} is_a: MONDO:0015626 {source="DOID:0110207/inferred", source="MONDO:Redundant", source="OMIM:300905", source="Orphanet:352675/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018994 {source="DOID:0110207", source="Orphanet:352675"} ! Charcot-Marie-Tooth disease type X +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8811 {source="OMIM:300905"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232498,7 +231797,6 @@ is_a: MONDO:0003664 ! hemolytic anemia is_a: MONDO:0019231 {source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010480 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4057 {source="MONDO:mim2gene_medgen"} ! G6PD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4202" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -232570,7 +231868,6 @@ xref: Orphanet:363654 {source="MONDO:equivalentTo", source="OMIM:300911"} xref: UMLS:C3806722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813052"} is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder is_a: MONDO:0100146 {source="https://clinicalgenome.org/affiliation/40006/"} ! ATP6AP2-related disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18305 {source="MONDO:mim2gene_medgen"} ! ATP6AP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232599,7 +231896,7 @@ xref: Orphanet:85277 {source="MONDO:equivalentTo", source="OMIM:300912"} xref: SCTID:719016007 {source="MONDO:equivalentTo"} xref: UMLS:C3806730 {source="MEDGEN:813060", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020119 {source="Orphanet:85277", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29433 {source="MONDO:mim2gene_medgen"} ! NEXMIF +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29433 {source="OMIM:300912"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -232626,10 +231923,10 @@ xref: Orphanet:90625 {source="OMIM:300914"} xref: UMLS:C3806737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813067"} is_a: MONDO:0019586 {source="DC-OMIM:300914", source="DOID:0111740", source="MONDO:Redundant", source="OMIM:300914"} ! X-linked nonsyndromic hearing loss intersection_of: MONDO:0019586 ! X-linked nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2208 ! COL4A6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2208 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010484 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2208 {source="MONDO:mim2gene_medgen"} ! COL4A6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2208 {source="OMIM:300914"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -232660,7 +231957,7 @@ is_a: MONDO:0000425 {source="DOID:0111811"} ! X-linked disease is_a: MONDO:0015159 {source="Orphanet:431140"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016073 {source="DC-OMIM:300915", source="DOID:0111811", source="OMIM:300915", source="Orphanet:431140"} ! syndromic microphthalmia relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5004 {source="MONDO:mim2gene_medgen"} ! HMGB3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5004 {source="OMIM:300915"} [Term] id: MONDO:0010486 @@ -232678,7 +231975,6 @@ xref: OMIM:300918 {source="MONDO:equivalentTo"} xref: Orphanet:659 {source="OMIM:300918"} xref: UMLS:C3806745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813075"} is_a: MONDO:0031421 {source="DOID:0112012", source="OMIM:300918"} ! Olmsted syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15455 {source="MONDO:mim2gene_medgen"} ! MBTPS2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232704,7 +232000,6 @@ xref: UMLS:C3806746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019181 {source="DC-OMIM:300919", source="DOID:0112026", source="MONDO:Redundant", source="OMIM:300919"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12632 ! USP9X -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12632 {source="MONDO:mim2gene_medgen"} ! USP9X property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232729,7 +232024,6 @@ xref: UMLS:C3890167 {source="MEDGEN:855516", source="MONDO:equivalentTo", source is_a: MONDO:0019181 {source="DC-OMIM:300923", source="DOID:0112040", source="MONDO:Redundant", source="OMIM:300923"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13339 ! KIF4A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13339 {source="MONDO:mim2gene_medgen"} ! KIF4A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232754,8 +232048,8 @@ xref: OMIM:300928 {source="MONDO:equivalentTo"} xref: UMLS:C3890168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:855517"} is_a: MONDO:0019181 {source="DC-OMIM:300928", source="DOID:0112048", source="MONDO:Redundant", source="OMIM:300928"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7096 ! MID2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7096 {source="MONDO:mim2gene_medgen"} ! MID2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7096 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7096 {source="OMIM:300928"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232794,7 +232088,7 @@ is_a: MONDO:0015159 {source="Orphanet:370927"} ! multiple congenital anomalies/d is_a: MONDO:0015286 {source="MONDO:0010490/inferred", source="MONDO:Redundant", source="OMIM:300934", source="Orphanet:370927/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:370927"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11326 {source="MONDO:mim2gene_medgen"} ! SSR4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11326 {source="OMIM:300934"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232853,9 +232147,9 @@ xref: Orphanet:963 {source="OMIM:300943"} xref: UMLS:C4012409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:860846"} is_a: MONDO:0017824 {source="MONDO:Redundant", source="OMIM:300943"} ! familial isolated pituitary adenoma intersection_of: MONDO:0017824 ! familial isolated pituitary adenoma -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14963 ! GPR101 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14963 relationship: excluded_subClassOf MONDO:0019933 {source="Orphanet:963/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! acromegaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14963 {source="MONDO:mim2gene_medgen"} ! GPR101 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14963 {source="OMIM:300943"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232880,8 +232174,8 @@ xref: OMIM:300946 {source="MONDO:equivalentTo"} xref: UMLS:C4225422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895657"} is_a: MONDO:0015253 {source="DC-OMIM:300946", source="DOID:0111897", source="MONDO:Redundant", source="OMIM:300946"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25455 ! TSR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25455 {source="MONDO:mim2gene_medgen"} ! TSR2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25455 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25455 {source="OMIM:300946"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232908,7 +232202,6 @@ is_a: MONDO:0010672 {source="DOID:0111876", source="MONDO:Redundant", source="OM intersection_of: MONDO:0010672 ! linear skin defects with multiple congenital anomalies intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20372 ! NDUFB11 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20372 {source="MONDO:mim2gene_medgen"} ! NDUFB11 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -232930,8 +232223,8 @@ xref: OMIM:300953 {source="MONDO:equivalentTo"} xref: UMLS:C4225420 {source="MEDGEN:899675", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:300953"} ! trichothiodystrophy intersection_of: MONDO:0018053 ! trichothiodystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12974 ! RNF113A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12974 {source="MONDO:mim2gene_medgen"} ! RNF113A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12974 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12974 {source="OMIM:300953"} [Term] id: MONDO:0010496 @@ -232960,7 +232253,7 @@ xref: UMLS:C0796218 {source="MEDGEN:901885", source="MONDO:equivalentTo", source is_a: MONDO:0015159 {source="Orphanet:457240"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="DOID:0112056", source="Orphanet:457240", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19073 {source="MONDO:mim2gene_medgen"} ! THOC2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19073 {source="OMIM:300957"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -232987,8 +232280,8 @@ xref: UMLS:C5393299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease is_a: MONDO:0019181 {source="DC-OMIM:300958", source="MONDO:Redundant", source="OMIM:300958"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2745 ! DDX3X -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2745 {source="MONDO:mim2gene_medgen"} ! DDX3X +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2745 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2745 {source="OMIM:300958"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -233017,7 +232310,6 @@ xref: UMLS:C4085243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019240 {source="Orphanet:401973"} ! sterol biosynthesis disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010498 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:401973", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3133 {source="MONDO:mim2gene_medgen"} ! EBP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -233043,9 +232335,9 @@ xref: Orphanet:7 {source="DOID:0060572"} xref: UMLS:C4225419 {source="MEDGEN:897005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019078 {source="DC-OMIM:300963", source="DOID:0060572", source="MONDO:Redundant", source="OMIM:300963"} ! Ritscher-Schinzel syndrome intersection_of: MONDO:0019078 ! Ritscher-Schinzel syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28909 ! CCDC22 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28909 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010499 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28909 {source="MONDO:mim2gene_medgen"} ! CCDC22 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28909 {source="OMIM:300963"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -233069,7 +232361,6 @@ xref: UMLS:C4225418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020119 {source="DC-OMIM:300966", source="MONDO:Redundant", source="OMIM:300966", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability intersection_of: MONDO:0020119 ! X-linked syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11535 ! TAF1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11535 {source="MONDO:mim2gene_medgen"} ! TAF1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -233107,8 +232398,8 @@ xref: UMLS:C4225417 {source="MEDGEN:902184", source="MONDO:equivalentTo", source is_a: MONDO:0015159 {source="Orphanet:466791"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="DC-OMIM:300967", source="DOID:0060817", source="MONDO:Redundant", source="OMIM:300967", source="Orphanet:466791", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability intersection_of: MONDO:0020119 ! X-linked syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7871 ! NONO -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7871 {source="MONDO:mim2gene_medgen"} ! NONO +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7871 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7871 {source="OMIM:300967"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -233132,7 +232423,6 @@ xref: UMLS:C4225416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020119 {source="DC-OMIM:300968", source="DOID:0112025", source="MONDO:Redundant", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability intersection_of: MONDO:0020119 ! X-linked syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12632 ! USP9X -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12632 {source="MONDO:mim2gene_medgen"} ! USP9X property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -233158,8 +232448,8 @@ xref: Orphanet:570371 {source="MONDO:equivalentTo"} xref: UMLS:C4310820 {source="MEDGEN:934787", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015231 {source="DOID:0110147", source="MONDO:Redundant", source="OMIM:300971", source="Orphanet:570371"} ! Bartter syndrome intersection_of: MONDO:0015231 ! Bartter syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16353 ! MAGED2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16353 {source="MONDO:mim2gene_medgen"} ! MAGED2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16353 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16353 {source="OMIM:300971"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -233184,8 +232474,8 @@ xref: UMLS:C4310819 {source="MEDGEN:934786", source="MONDO:equivalentTo", source is_a: MONDO:0003778 {source="DC-OMIM:300972", source="DOID:0112002", source="MONDO:Redundant"} ! inborn error of immunity is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003778 ! inborn error of immunity -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/868 ! ATP6AP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/868 {source="MONDO:mim2gene_medgen"} ! ATP6AP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/868 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/868 {source="OMIM:300972"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -233240,8 +232530,8 @@ xref: OMIM:300978 {source="MONDO:equivalentTo"} xref: UMLS:C4283894 {source="MONDO:equivalentTo", source="MEDGEN:924419", source="MONDO:MEDGEN"} is_a: MONDO:0019181 {source="DC-OMIM:300978", source="MONDO:Redundant", source="OMIM:300978"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13429 ! RLIM -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13429 {source="MONDO:mim2gene_medgen"} ! RLIM +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13429 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13429 {source="OMIM:300978"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -233292,8 +232582,8 @@ xref: UMLS:C4310818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease is_a: MONDO:0019181 {source="DC-OMIM:300982", source="DOID:0112020", source="MONDO:Redundant", source="OMIM:300982"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29347 ! KLHL15 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29347 {source="MONDO:mim2gene_medgen"} ! KLHL15 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29347 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29347 {source="OMIM:300982"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -233318,8 +232608,8 @@ xref: OMIM:300983 {source="MONDO:equivalentTo"} xref: UMLS:C4310817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934784"} is_a: MONDO:0019181 {source="DC-OMIM:300983", source="DOID:0112018", source="MONDO:Redundant", source="OMIM:300983"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29007 ! FRMPD4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29007 {source="MONDO:mim2gene_medgen"} ! FRMPD4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29007 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29007 {source="OMIM:300983"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -233344,8 +232634,8 @@ xref: OMIM:300984 {source="MONDO:equivalentTo"} xref: UMLS:C4310816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934783"} is_a: MONDO:0019181 {source="DC-OMIM:300984", source="DOID:0112036", source="MONDO:Redundant", source="OMIM:300984"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13486 ! USP27X -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13486 {source="MONDO:mim2gene_medgen"} ! USP27X +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13486 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13486 {source="OMIM:300984"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -233364,7 +232654,7 @@ xref: MEDGEN:934782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300985 {source="MONDO:equivalentTo"} xref: UMLS:C4310815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934782"} is_a: MONDO:0018801 {source="DOID:0111863", source="OMIM:300985", source="Orphanet:48/btnt"} ! congenital bilateral absence of vas deferens -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4516 {source="MONDO:mim2gene_medgen"} ! ADGRG2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4516 {source="OMIM:300985"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -233384,7 +232674,7 @@ xref: MEDGEN:934781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300986 {source="MONDO:equivalentTo"} xref: UMLS:C4310814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934781"} is_a: MONDO:0020119 {source="DC-OMIM:300986", source="DOID:0070538", source="OMIM:300986", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5042 {source="MONDO:mim2gene_medgen"} ! HNRNPH2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5042 {source="OMIM:300986"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -233424,7 +232714,7 @@ is_a: MONDO:0015131 {source="DOID:0112001", source="https://orcid.org/0000-0002- is_a: MONDO:0021094 {source="OMIM:300988"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010514 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:504530", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7373 {source="MONDO:mim2gene_medgen"} ! MSN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7373 {source="OMIM:300988"} [Term] id: MONDO:0010515 @@ -233442,7 +232732,6 @@ xref: OMIM:300989 {source="MONDO:equivalentTo"} xref: UMLS:C4310811 {source="MEDGEN:934778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="DOID:0111861", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1044 {source="MONDO:mim2gene_medgen"} ! BGN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -233461,7 +232750,7 @@ xref: MEDGEN:934777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300990 {source="MONDO:equivalentTo"} xref: UMLS:C4310810 {source="MEDGEN:934777", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010263 ! Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/467 {source="MONDO:mim2gene_medgen"} ! AMMECR1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/467 {source="OMIM:300990"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -233485,8 +232774,8 @@ xref: OMIM:300991 {source="MONDO:equivalentTo"} xref: UMLS:C4478372 {source="MEDGEN:1393107", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:300991", source="DOID:0111850", source="MONDO:Redundant", source="OMIM:300991"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28570 ! DNAAF6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28570 {source="MONDO:mim2gene_medgen"} ! DNAAF6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28570 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28570 {source="OMIM:300991"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -233593,7 +232882,6 @@ is_a: MONDO:0016980 {source="Orphanet:847"} ! ATR-X-related syndrome is_a: MONDO:0020040 ! 46,XY disorder of sex development is_a: MONDO:0020119 {source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/886 {source="MONDO:mim2gene_medgen"} ! ATRX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5864/alpha-thalassemia-x-linked-intellectual-disability-syndrome" xsd:anyURI {source="GARD:0005864"} @@ -233631,7 +232919,7 @@ is_a: MONDO:0018965 {source="DC-OMIM:301050", source="DOID:0110034", source="MON intersection_of: MONDO:0018965 ! Alport syndrome intersection_of: has_characteristic HP:0001417 ! X-linked inheritance relationship: has_characteristic HP:0001417 {source="MONDO:HPOA", source="OMIM:301050"} ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2207 {source="MONDO:mim2gene_medgen"} ! COL4A5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2207 {source="OMIM:301050"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -233670,8 +232958,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110058", source="MONDO:Redundant", source="OMIM:301200", source="Orphanet:88661/btnt"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/461 ! AMELX -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/461 {source="MONDO:mim2gene_medgen"} ! AMELX +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/461 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/461 {source="OMIM:301200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9943/amelogenesis-imperfecta-hypoplastichypomaturation-x-linked-1" xsd:anyURI {source="GARD:0009943"} @@ -233737,7 +233025,6 @@ xref: UMLS:C1845050 {source="MEDGEN:336844", source="MONDO:equivalentTo", source is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005093 {source="Orphanet:85453", source="Orphanet:85453/inferred"} ! skin disorder is_a: MONDO:0957408 {source="Orphanet:85453", source="PMID:37161741"} ! type 1 interferonopathy of childhood -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9173 {source="MONDO:mim2gene_medgen"} ! POLA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6742" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -233789,7 +233076,7 @@ is_a: MONDO:0016612 {source="Orphanet:2802"} ! X-linked cerebellar ataxia is_a: MONDO:0020099 {source="Orphanet:2802"} ! inherited sideroblastic anemia is_a: MONDO:0044970 {source="OMIM:301310"} ! mitochondrial disease relationship: excluded_subClassOf MONDO:0020721 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked sideroblastic anemia 1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/48 {source="MONDO:mim2gene_medgen"} ! ABCB7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/48 {source="OMIM:301310"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -233870,7 +233157,6 @@ relationship: excluded_subClassOf MONDO:0019293 {source="Orphanet:324", source=" relationship: excluded_subClassOf MONDO:0019520 {source="Orphanet:324", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic lymphedema relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:324", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4296 {source="MONDO:mim2gene_medgen"} ! GLA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI [Term] @@ -234000,7 +233286,6 @@ xref: UMLS:C1844934 {source="MEDGEN:337123", source="MONDO:equivalentTo", source is_a: MONDO:0001516 {source="DC-OMIM:301830", source="DOID:0111827"} ! spinal muscular atrophy is_a: MONDO:0015168 {source="Orphanet:1145"} ! arthrogryposis multiplex congenita relationship: has_characteristic HP:0003593 ! Infantile onset -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12469 {source="MONDO:mim2gene_medgen"} ! UBA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -234045,7 +233330,6 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic relationship: excluded_subClassOf MONDO:0016612 {source="Orphanet:1187", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked cerebellar ataxia relationship: excluded_subClassOf MONDO:0019236 {source="Orphanet:1187", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of purine metabolism relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:301835", source="DOID:0050647", source="OMIM:301835", source="Orphanet:1187", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9462 {source="MONDO:mim2gene_medgen"} ! PRPS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8756/arts-syndrome" xsd:anyURI {source="GARD:0008756"} @@ -234180,7 +233464,7 @@ relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:127", source=" relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:127", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:301900", source="DOID:0050681", source="OMIM:301900", source="Orphanet:127", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0020158 {source="MONDO:0020169-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyelids malposition disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18145 {source="MONDO:mim2gene_medgen"} ! PHF6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18145 {source="OMIM:301900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome" xsd:anyURI {source="GARD:0000936"} @@ -234337,7 +233621,6 @@ is_a: MONDO:0016147 ! qualitative or quantitative defects of dystrophin is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:302045"} ! familial dilated cardiomyopathy intersection_of: MONDO:0005021 ! dilated cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2928 ! DMD -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2928 {source="MONDO:mim2gene_medgen"} ! DMD [Term] id: MONDO:0010543 @@ -234390,7 +233673,7 @@ is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0017359 {source="DC-OMIM:302060", source="DOID:0050476", source="NCIT:C84585", source="OMIM:302060", source="Orphanet:111"} ! 3-methylglutaconic aciduria is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010543 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11577 {source="MONDO:mim2gene_medgen"} ! TAFAZZIN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11577 {source="OMIM:302060"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome" xsd:anyURI {source="GARD:0005890"} @@ -234426,7 +233709,6 @@ is_a: MONDO:0005129 {source="DOID:0110272", source="MESH:C535338", source="MONDO is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7820 ! NHS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7820 {source="MONDO:mim2gene_medgen"} ! NHS [Term] id: MONDO:0010545 @@ -234465,7 +233747,6 @@ is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:627", source="Orp relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010545 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:627", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:627", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7820 {source="MONDO:mim2gene_medgen"} ! NHS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7161/nance-horan-syndrome" xsd:anyURI {source="GARD:0007161"} @@ -234505,6 +233786,7 @@ xref: Orphanet:1175 {source="MONDO:equivalentTo", source="OMIM:302500"} xref: UMLS:C0796205 {source="MEDGEN:163229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016612 {source="DOID:0111829", source="Orphanet:1175"} ! X-linked cerebellar ataxia relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:1175", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/816 {source="OMIM:302500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -234573,9 +233855,9 @@ xref: UMLS:C0393808 {source="MEDGEN:98290", source="MONDO:equivalentTo", source= is_a: MONDO:0015626 {source="DOID:0110209/inferred", source="MONDO:Redundant", source="NCIT:C129068", source="OMIM:302800", source="Orphanet:101075/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018994 {source="DOID:0110209", source="MONDO:Redundant", source="Orphanet:101075"} ! Charcot-Marie-Tooth disease type X intersection_of: MONDO:0018994 ! Charcot-Marie-Tooth disease type X -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4283 ! GJB1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4283 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010549 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4283 {source="MONDO:mim2gene_medgen"} ! GJB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4283 {source="OMIM:302800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -234691,7 +233973,6 @@ xref: SCTID:718574003 {source="MONDO:equivalentTo"} xref: UMLS:C1844862 {source="MEDGEN:375529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="DOID:0111826", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:921"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11600 {source="MONDO:mim2gene_medgen"} ! TBX22 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/360/abruzzo-erickson-syndrome" xsd:anyURI {source="GARD:0000360"} @@ -234737,9 +234018,9 @@ is_a: MONDO:0010556 {source="MONDO:Redundant"} ! X-linked chondrodysplasia punct is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism is_a: MONDO:0019701 {source="PMID:31633310"} ! chondrodysplasia punctata intersection_of: MONDO:0010556 ! X-linked chondrodysplasia punctata -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/719 ! ARSL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/719 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010555 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/719 {source="MONDO:mim2gene_medgen"} ! ARSL +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/719 {source="OMIM:302950"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1296/chondrodysplasia-punctata-1-x-linked-recessive" xsd:anyURI {source="GARD:0001296"} @@ -234808,7 +234089,7 @@ is_a: MONDO:0001898 {source="DOID:9821", source="MESH:D015794"} ! optic choroid is_a: MONDO:0004580 {source="DOID:9821", source="MONDO:Redundant", source="MONDO:indirect"} ! retinal degeneration relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010557 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0001417 {source="MONDO:HPOA", source="OMIM:303100"} ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1940 {source="MONDO:mim2gene_medgen"} ! CHM +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1940 {source="OMIM:303100"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6061/choroideremia" xsd:anyURI {source="GARD:0006061"} [Term] @@ -234891,7 +234172,6 @@ xref: UMLS:C0795953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0017140 {source="Orphanet:2466", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome is_a: MONDO:0019064 {source="DOID:0060246", source="MONDO:Redundant", source="OMIM:303350", source="Orphanet:2466/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6470 {source="MONDO:mim2gene_medgen"} ! L1CAM property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -234924,7 +234204,6 @@ xref: SCTID:766761000 {source="MONDO:equivalentTo"} xref: UMLS:C1844830 {source="MEDGEN:375520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="MESH:C536426/inferred"} ! hereditary disease is_a: MONDO:0016064 {source="DC-OMIM:303400", source="DOID:0060613", source="MESH:C536426"} ! cleft palate -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11600 {source="MONDO:mim2gene_medgen"} ! TBX22 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1394/cleft-palate-x-linked" xsd:anyURI {source="GARD:0001394"} @@ -234977,7 +234256,6 @@ relationship: excluded_subClassOf MONDO:0005027 {source="MESH:C536435", source=" relationship: excluded_subClassOf MONDO:0005392 {source="MESH:C536435", source="https://orcid.org/0000-0001-5208-3432"} ! scoliosis relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:192", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:192", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10432 {source="MONDO:mim2gene_medgen"} ! RPS6KA3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6123/coffin-lowry-syndrome" xsd:anyURI {source="GARD:0006123"} @@ -235088,7 +234366,6 @@ xref: SCTID:246674000 {source="DOID:13909"} xref: SCTID:77479002 {source="MONDO:equivalentTo", source="DOID:13909", source="EFO:0005581"} xref: UMLS:C0155016 {source="MEDGEN:102324", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000014 {source="DC-OMIM:303800"} ! colorblindness, partial -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4206 {source="MONDO:mim2gene_medgen"} ! OPN1MW property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -235118,7 +234395,6 @@ xref: UMLS:C0155015 {source="MONDO:equivalentTo", source="MEDGEN:56350", source= is_a: MONDO:0001703 {source="DOID:13910", source="https://orcid.org/0000-0002-6601-2165"} ! color vision disorder is_a: MONDO:0005328 {source="DOID:13910/inferred", source="EFO:0005580/inferred", source="MONDO:Redundant", source="OMIM:303900/inferred"} ! eye disorder relationship: disease_has_location UBERON:0010230 ! eyeball of camera-type eye -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9936 {source="MONDO:mim2gene_medgen"} ! OPN1LW property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -235147,7 +234423,6 @@ xref: UMLS:C1844776 {source="MONDO:equivalentTo", source="MEDGEN:336777", source intersection_of: MONDO:0021155 ! X-linked cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10295 ! RPGR relationship: has_characteristic HP:0001417 {source="OMIM:304020"} ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10295 {source="MONDO:mim2gene_medgen"} ! RPGR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10652/cone-rod-dystrophy-x-linked-1" xsd:anyURI {source="GARD:0010652"} @@ -235235,7 +234510,6 @@ xref: Orphanet:1497 {source="OMIM:304100", source="MONDO:equivalentTo"} xref: Orphanet:275543 {source="OMIM:304100"} xref: UMLS:C1839909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374339"} is_a: MONDO:0017140 {source="Orphanet:1497", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6470 {source="MONDO:mim2gene_medgen"} ! L1CAM property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -235275,7 +234549,7 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: excluded_subClassOf MONDO:0016643 {source="Orphanet:1520", source="https://orcid.org/0000-0001-5208-3432"} ! frontonasal dysplasia relationship: excluded_subClassOf MONDO:0018237 {source="Orphanet:1520", source="https://orcid.org/0000-0001-5208-3432"} ! acrofacial dysostosis relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:1520", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3226 {source="MONDO:mim2gene_medgen"} ! EFNB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3226 {source="OMIM:304110"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -235320,7 +234594,6 @@ xref: SCTID:42432003 {source="MONDO:equivalentTo"} xref: UMLS:C1844696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337064"} is_a: MONDO:0019027 {source="Orphanet:90652"} ! otopalatodigital syndrome is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -235365,7 +234638,6 @@ xref: UMLS:C0268353 {source="MEDGEN:82793", source="MONDO:equivalentTo", source= is_a: MONDO:0015160 {source="Orphanet:198"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0017762 {source="Orphanet:198"} ! disorder of copper metabolism is_a: MONDO:0100237 {source="MESH:C537860", source="Orphanet:198"} ! inherited cutis laxa -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/869 {source="MONDO:mim2gene_medgen"} ! ATP7A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -235451,6 +234723,7 @@ is_a: MONDO:0020022 ! central nervous system malformation is_a: MONDO:0020119 {source="DC-OMIM:304340", source="DOID:0060800", source="OMIM:304340", source="Orphanet:1568", source="Orphanet:85329", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1568", source="Orphanet:1568/inferred"} ! disorder of development or morphogenesis relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/560 {source="OMIM:304340"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -235553,6 +234826,7 @@ is_a: MONDO:0002467 {source="DOID:10003"} ! inner ear disorder is_a: MONDO:0016297 {source="MONDO:Redundant", source="Orphanet:383"} ! prelingual non-syndromic genetic hearing loss is_a: MONDO:0019586 {source="DC-OMIM:304400", source="DOID:0111737", source="OMIM:304400"} ! X-linked nonsyndromic hearing loss relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9217 {source="OMIM:304400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -235619,7 +234893,7 @@ is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:52368"} ! inheri relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010578 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0016802 {source="Orphanet:52368", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial protein import disorder relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:52368", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11817 {source="MONDO:mim2gene_medgen"} ! TIMM8A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11817 {source="OMIM:304700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -235714,7 +234988,7 @@ is_a: MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:37042", source=" is_a: MONDO:0005151 {source="MONDO:Redundant", source="Orphanet:37042", source="Orphanet:37042/inferred"} ! endocrine system disorder is_a: MONDO:0015126 {source="Orphanet:37042"} ! polyendocrinopathy is_a: MONDO:0019787 {source="Orphanet:37042"} ! autoimmune enteropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6106 {source="MONDO:mim2gene_medgen"} ! FOXP3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6106 {source="OMIM:304790"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -235736,7 +235010,6 @@ xref: UMLS:C1563705 {source="MEDGEN:288785", source="MONDO:equivalentTo", source is_a: MONDO:0004782 {source="DC-OMIM:304800", source="MONDO:Redundant", source="MONDO:indirect"} ! diabetes insipidus is_a: MONDO:0016383 {source="DOID:0081060", source="Orphanet:223/btnt"} ! nephrogenic diabetes insipidus relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/897 {source="MONDO:mim2gene_medgen"} ! AVPR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -235800,7 +235073,6 @@ is_a: MONDO:0100152 {source="https://clinicalgenome.org/affiliation/40006/"} ! D intersection_of: MONDO:0015780 ! dyskeratosis congenita intersection_of: has_characteristic HP:0001417 ! X-linked inheritance relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010584 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2890 {source="MONDO:mim2gene_medgen"} ! DKC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -235844,7 +235116,6 @@ is_a: MONDO:0016535 {source="DOID:0111664", source="MONDO:Redundant", source="Or is_a: MONDO:0019287 {source="MONDO:0010585/inferred", source="MONDO:Redundant", source="OMIM:305100", source="Orphanet:181/inferred"} ! ectodermal dysplasia syndrome intersection_of: MONDO:0016535 ! hypohidrotic ectodermal dysplasia intersection_of: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3157 {source="MONDO:mim2gene_medgen"} ! EDA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4104" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -235925,7 +235196,6 @@ is_a: MONDO:0019516 {source="DC-OMIM:305390", source="DOID:0111413", source="MON intersection_of: MONDO:0019516 ! exudative vitreoretinopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7678 ! NDP relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7678 {source="MONDO:mim2gene_medgen"} ! NDP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -235978,7 +235248,6 @@ relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:915", source=" relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:915", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: excluded_subClassOf MONDO:0020119 {source="OMIM:305400", source="Orphanet:915", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3663 {source="MONDO:mim2gene_medgen"} ! FGD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -236017,7 +235286,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:93932", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0015246 {source="Orphanet:93932", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic anorectal malformation relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:93932", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11957 {source="MONDO:mim2gene_medgen"} ! MED12 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -236087,7 +235355,7 @@ relationship: excluded_subClassOf MONDO:0019287 {source="MESH:D005489", source=" relationship: excluded_subClassOf MONDO:0019294 {source="Orphanet:2092", source="https://orcid.org/0000-0001-5208-3432"} ! mixed dermis disorder relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2092", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0020237 {source="Orphanet:2092", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lens shape anomaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17652 {source="MONDO:mim2gene_medgen"} ! PORCN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17652 {source="OMIM:305600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -236219,7 +235487,6 @@ is_a: MONDO:0002412 {source="DOID:2751", source="DOID:2751/inferred", source="EF is_a: MONDO:0020693 {source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! glycogen storage disease due to liver phosphorylase kinase deficiency intersection_of: MONDO:0002412 {source="MONDO:mim2gene_medgen"} ! disorder of glycogen metabolism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8926 {source="MONDO:mim2gene_medgen"} ! PHKA2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8926 {source="MONDO:mim2gene_medgen", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! PHKA2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2128" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6538/glycogen-storage-disease-8" xsd:anyURI {source="GARD:0006538"} @@ -236262,7 +235529,6 @@ xref: OMIM:306400 {source="MONDO:equivalentTo", source="MONDO:preferredExternal" xref: Orphanet:379 {source="OMIM:306400"} xref: UMLS:C1844376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336165"} is_a: MONDO:0018305 {source="DC-OMIM:138990", source="DC-OMIM:306400", source="DOID:0070195", source="MESH:C564210", source="OMIM:306400"} ! chronic granulomatous disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2578 {source="MONDO:mim2gene_medgen"} ! CYBB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3797" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -236342,7 +235608,6 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: disease_arises_from_feature HP:0003125 ! Reduced factor VIII activity relationship: disease_disrupts GO:0003810 ! protein-glutamine gamma-glutamyltransferase activity relationship: disease_has_feature HP:0003125 ! Reduced factor VIII activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3546 {source="MONDO:mim2gene_medgen"} ! F8 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -236411,7 +235676,6 @@ xref: UMLS:C0008533 {source="MEDGEN:945", source="MONDO:equivalentTo", source="M is_a: MONDO:0002243 {source="MESH:D002836"} ! hemorrhagic disease is_a: MONDO:0018660 {source="NCIT:C26721", source="Orphanet:98879"} ! hemophilia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010604 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3551 {source="MONDO:mim2gene_medgen"} ! F9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8732/hemophilia-b" xsd:anyURI {source="GARD:0008732"} @@ -236468,7 +235732,6 @@ is_a: MONDO:0018677 {source="DC-OMIM:306955", source="MONDO:Redundant", source=" is_a: MONDO:0019512 {source="MONDO:Redundant", source="MONDO:indirect"} ! congenital heart malformation intersection_of: MONDO:0018677 ! visceral heterotaxy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12874 ! ZIC3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12874 {source="MONDO:mim2gene_medgen"} ! ZIC3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8591/x-linked-visceral-heterotaxy-1" xsd:anyURI {source="GARD:0008591"} @@ -236557,7 +235820,6 @@ is_a: MONDO:0016349 {source="OMIM:307000"} ! congenital hydrocephalus is_a: MONDO:0017140 {source="Orphanet:2182", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome relationship: disease_arises_from_feature HP:0002410 ! Aqueductal stenosis relationship: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6470 {source="MONDO:mim2gene_medgen"} ! L1CAM property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -236618,7 +235880,7 @@ is_a: MONDO:0019052 {source="DOID:0060363"} ! inborn errors of metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0004370 ! glycerol kinase activity relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010613 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4289 {source="MONDO:mim2gene_medgen"} ! GK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4289 {source="OMIM:307030"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5373" xsd:string @@ -236701,7 +235963,6 @@ xref: SCTID:234533006 {source="MONDO:equivalentTo"} xref: UMLS:C0472813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141630"} is_a: MONDO:0000050 {source="DC-OMIM:307200", source="DOID:0060875", source="OMIM:307200", source="Orphanet:231692"} ! isolated congenital growth hormone deficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010615 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1133 {source="MONDO:mim2gene_medgen"} ! BTK property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3921/isolated-growth-hormone-deficiency-type-3" xsd:anyURI {source="GARD:0003921"} @@ -236814,7 +236075,7 @@ is_a: MONDO:0024300 {source="MESH:D053098", source="MONDO:0010619/inferred", sou is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder intersection_of: MONDO:0000044 ! hereditary hypophosphatemic rickets intersection_of: has_characteristic HP:0001423 ! X-linked dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8918 {source="MONDO:mim2gene_medgen"} ! PHEX +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8918 {source="OMIM:307800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2844" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -236873,7 +236134,6 @@ is_a: MONDO:0015161 {source="Orphanet:139"} ! multiple congenital anomalies/dysm is_a: MONDO:0017269 {source="MONDO:Redundant", source="Orphanet:139"} ! X-linked ichthyosis syndrome is_a: MONDO:0019240 {source="MONDO:Redundant", source="Orphanet:139"} ! sterol biosynthesis disorder is_a: MONDO:0019701 {source="MONDO:Redundant", source="Orphanet:139", source="PMID:31633310"} ! chondrodysplasia punctata -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13398 {source="MONDO:mim2gene_medgen"} ! NSDHL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6039/child-syndrome" xsd:anyURI {source="GARD:0006039"} @@ -236935,7 +236195,7 @@ relationship: disease_has_basis_in_disruption_of GO:0016125 ! sterol metabolic p relationship: excluded_subClassOf MONDO:0015947 {source="Orphanet:461-generalized-by-cjm", source="Orphanet:461/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/49", source="https://orcid.org/0000-0001-5208-3432"} ! inherited ichthyosis relationship: excluded_subClassOf MONDO:0019269 {source="NCIT:C84779", source="Orphanet:461/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! ichthyosis relationship: has_characteristic HP:0001419 {source="OMIM:308100"} ! X-linked recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11425 {source="MONDO:mim2gene_medgen"} ! STS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11425 {source="OMIM:308100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2114" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -237029,7 +236289,7 @@ is_a: MONDO:0021094 {source="MONDO:Redundant", source="NCIT:C61244"} ! immunodef intersection_of: MONDO:0003947 ! hyper-IgM syndrome intersection_of: has_characteristic HP:0001417 ! X-linked inheritance relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010626 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11935 {source="MONDO:mim2gene_medgen"} ! CD40LG +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11935 {source="OMIM:308230"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/73/immunodeficiency-with-hyper-igm-type-1" xsd:anyURI {source="GARD:0000073"} @@ -237152,7 +236412,6 @@ is_a: MONDO:0020247 {source="Orphanet:464"} ! congenital vitreoretinal dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010631 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:50", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0020174 {source="Orphanet:464", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete precancerous lesion of palpebral epidermis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5961 {source="MONDO:mim2gene_medgen"} ! IKBKG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -237185,7 +236444,6 @@ is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000 is_a: MONDO:0100062 {source="DC-OMIM:308350", source="DOID:0080468", source="MONDO:Redundant", source="OMIM:308350"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 ! ARX -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -237249,9 +236507,9 @@ xref: UMLS:C1563719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018555 {source="DOID:0090094", source="MONDO:0010635/inferred", source="MONDO:Redundant", source="NCIT:C75480/inferred", source="OMIM:308700"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="NCIT:C75480", source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6211 ! ANOS1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6211 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010635 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6211 {source="MONDO:mim2gene_medgen"} ! ANOS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6211 {source="OMIM:308700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -237357,6 +236615,7 @@ xref: Orphanet:104 {source="OMIM:308905"} xref: UMLS:C1839891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374333"} is_a: MONDO:0020573 {source="OMIM:308905", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0010788 {source="Orphanet:104/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! Leber hereditary optic neuropathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6645 {source="OMIM:308905"} relationship: predisposes_towards MONDO:0010788 {source="OMIM:308905"} ! Leber hereditary optic neuropathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -237459,7 +236718,6 @@ xref: Orphanet:1652 {source="MONDO:relatedTo", source="OMIM:308990"} xref: Orphanet:93622 {source="MONDO:relatedTo", source="OMIM:308990"} xref: UMLS:C1839874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333426"} is_a: MONDO:0003634 {source="https://orcid.org/0000-0002-6601-2165"} ! proteinuria -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2023 {source="MONDO:mim2gene_medgen"} ! CLCN5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -237512,7 +236770,6 @@ is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0015962 {source="Orphanet:534"} ! inherited renal tubular disease is_a: MONDO:0019216 {source="Orphanet:534"} ! inborn disorder of amino acid transport relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010645 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8108 {source="MONDO:mim2gene_medgen"} ! OCRL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -237551,9 +236808,9 @@ xref: UMLS:C1839841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004983 {source="DC-OMIM:309120", source="DOID:0070185", source="MONDO:Redundant", source="OMIM:309120"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11733 ! TEX11 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11733 ! TEX11 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11733 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11733 {source="MONDO:mim2gene_medgen"} ! TEX11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11733 {source="MONDO:mim2gene_medgen"} ! TEX11 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11733 {source="OMIM:309120"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -237640,7 +236897,6 @@ relationship: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted relationship: excluded_subClassOf MONDO:0015161 {source="Orphanet:2484", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: excluded_subClassOf MONDO:0019690 {source="PMID:31633310", source="https://orcid.org/0000-0001-5208-3432"} ! filamin-related bone disorder relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2484", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -237698,7 +236954,6 @@ relationship: disease_has_feature HP:0000534 {source="Orphanet:565"} ! Abnormal relationship: excluded_subClassOf MONDO:0002917 {source="DOID:1838", source="MESH:D007706", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of pilosebaceous unit relationship: excluded_subClassOf MONDO:0019282 {source="Orphanet:565", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic hair shaft abnormality relationship: excluded_subClassOf MONDO:0020189 {source="Orphanet:565", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow/eyelashes structural anomaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/869 {source="MONDO:mim2gene_medgen"} ! ATP7A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1521/menkes-disease" xsd:anyURI {source="GARD:0001521"} @@ -237799,7 +237054,7 @@ relationship: disease_has_feature HP:0008734 ! Decreased testicular size relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:3242", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0015246 {source="Orphanet:3242", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic anorectal malformation relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309500", source="DOID:0060179", source="OMIM:309500", source="Orphanet:3242", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9330 {source="MONDO:mim2gene_medgen"} ! PQBP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9330 {source="OMIM:309500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -237840,7 +237095,6 @@ is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous s is_a: MONDO:0020119 {source="DOID:14744", source="OMIM:309510", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:94083", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete ARX-related epileptic encephalopathy relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309510", source="DOID:14744", source="OMIM:309510", source="Orphanet:94083", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -237874,7 +237128,6 @@ xref: UMLS:C0796022 {source="MEDGEN:167096", source="MONDO:equivalentTo", source is_a: MONDO:0015159 {source="Orphanet:776"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020119 {source="Orphanet:776", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0100000 {source="MONDO:Redundant"} ! MED12-related intellectual disability syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11957 {source="MONDO:mim2gene_medgen"} ! MED12 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -237917,7 +237170,7 @@ xref: Orphanet:397933 {source="MONDO:equivalentTo"} xref: UMLS:C2931498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444070"} is_a: MONDO:0019181 {source="DC-OMIM:300551", source="DC-OMIM:309530", source="DOID:0112038", source="OMIM:309530"} ! non-syndromic X-linked intellectual disability relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:397933", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29059 {source="MONDO:mim2gene_medgen"} ! IQSEC2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29059 {source="OMIM:309530"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7283" xsd:anyURI @@ -237946,7 +237199,7 @@ xref: Orphanet:369962 {source="MONDO:equivalentTo", source="OMIM:309541"} xref: UMLS:C0796208 {source="MEDGEN:167111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016826 {source="OMIM:309541", source="Orphanet:369962"} ! methylmalonic aciduria and homocystinuria is_a: MONDO:0019181 {source="DC-OMIM:309541", source="OMIM:309541"} ! non-syndromic X-linked intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4839 {source="MONDO:mim2gene_medgen"} ! HCFC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4839 {source="OMIM:309541"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -238008,7 +237261,7 @@ xref: SCTID:716709002 {source="MONDO:equivalentTo"} xref: UMLS:C0751157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155512"} is_a: MONDO:0019181 {source="OMIM:309548", source="https://orcid.org/0000-0001-5208-3432"} ! non-syndromic X-linked intellectual disability relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309548", source="Orphanet:100973", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3776 {source="MONDO:mim2gene_medgen"} ! AFF2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3776 {source="OMIM:309548"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2378/fragile-xe-syndrome" xsd:anyURI {source="GARD:0002378"} @@ -238039,8 +237292,8 @@ xref: Orphanet:777 {source="OMIM:309549"} xref: UMLS:C0796215 {source="MEDGEN:167112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019181 {source="DC-OMIM:309549", source="DOID:0112034", source="MONDO:Redundant", source="OMIM:309549"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13254 ! FTSJ1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13254 {source="MONDO:mim2gene_medgen"} ! FTSJ1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13254 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13254 {source="OMIM:309549"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -238156,7 +237409,6 @@ xref: UMLS:C4759781 {source="MEDGEN:1676827", source="MONDO:equivalentTo", sourc is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016980 {source="Orphanet:847"} ! ATR-X-related syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/886 {source="MONDO:mim2gene_medgen"} ! ATRX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5061" xsd:anyURI @@ -238201,7 +237453,7 @@ xref: UMLS:C0796160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020119 {source="DC-OMIM:309583", source="DOID:0060802", source="OMIM:309583", source="Orphanet:3063", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0800159 {source="PMID:33340416"} ! disorder of polyamine metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010664 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11123 {source="MONDO:mim2gene_medgen"} ! SMS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11123 {source="OMIM:309583"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -238247,7 +237499,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic is_a: MONDO:0020119 {source="DOID:0060814", source="OMIM:309585", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:3459", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309585", source="DOID:0060814", source="OMIM:309585", source="Orphanet:3459", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25726 {source="MONDO:mim2gene_medgen"} ! LAS1L +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25726 {source="OMIM:309585"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5579/wilson-turner-syndrome" xsd:anyURI {source="GARD:0005579"} @@ -238293,6 +237545,7 @@ xref: UMLS:C1839730 {source="MEDGEN:374294", source="MONDO:equivalentTo", source is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0020119 {source="DOID:0060805", source="OMIM:309610", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309610", source="DOID:0060805", source="OMIM:309610", source="Orphanet:2958", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14543 {source="OMIM:309610"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -238360,8 +237613,8 @@ xref: SCTID:715442006 {source="MONDO:equivalentTo"} xref: UMLS:C1839728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333392"} is_a: MONDO:0019530 {source="MONDO:Redundant", source="Orphanet:2498"} ! non-syndromic syndactyly intersection_of: MONDO:0019530 ! non-syndromic syndactyly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3672 ! FGF16 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3672 {source="MONDO:mim2gene_medgen"} ! FGF16 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3672 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3672 {source="OMIM:309630"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3559/metacarpals-4-and-5-fusion" xsd:anyURI {source="GARD:0003559"} @@ -238419,7 +237672,6 @@ is_a: MONDO:0100124 {source="https://clinicalgenome.org/affiliation/40006/"} ! N relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:85275", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0018924 {source="Orphanet:568/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! microphthalmia, Lenz type relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:85275", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18704 {source="OMIM:309800"} ! NAA10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3803" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5066/microphthalmia-syndromic-4" xsd:anyURI {source="GARD:0005066"} @@ -238539,7 +237791,7 @@ relationship: excluded_subClassOf MONDO:0016326 {source="Orphanet:580", source=" relationship: excluded_subClassOf MONDO:0019301 {source="Orphanet:79388", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete metabolic disease with skin involvement relationship: excluded_subClassOf MONDO:0019706 {source="Orphanet:580", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lysosomal storage disease with skeletal involvement relationship: excluded_subClassOf MONDO:0020158 {source="MONDO:0020169-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyelids malposition disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5389 {source="MONDO:mim2gene_medgen"} ! IDS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5389 {source="OMIM:309900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3787" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -238631,7 +237883,6 @@ xref: SCTID:76670001 {source="DOID:11723", source="MONDO:equivalentTo"} xref: UMLS:C0013264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3925"} is_a: MONDO:0020121 {source="DOID:11723", source="MESH:D020388", source="MONDO:Redundant", source="NCIT:C75482", source="Orphanet:98896/inferred"} ! muscular dystrophy relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2928 {source="MONDO:mim2gene_medgen"} ! DMD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy" xsd:anyURI {source="GARD:0006291"} @@ -238664,7 +237915,6 @@ is_a: MONDO:0016830 {source="DOID:0070246", source="MONDO:Redundant", source="OM is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy intersection_of: MONDO:0016830 ! Emery-Dreifuss muscular dystrophy intersection_of: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3331 {source="MONDO:mim2gene_medgen"} ! EMD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6738" xsd:anyURI @@ -238730,7 +237980,6 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: excluded_subClassOf MONDO:0002921 {source="NCIT:C118781", source="OMIM:310400", source="https://orcid.org/0000-0001-5208-3432"} ! congenital structural myopathy relationship: excluded_subClassOf MONDO:0016154 {source="Orphanet:596", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete qualitative or quantitative defects of myotubularin relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:596", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7448 {source="MONDO:mim2gene_medgen"} ! MTM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6730" xsd:anyURI @@ -238762,7 +238011,7 @@ xref: SCTID:719815005 {source="MONDO:equivalentTo"} xref: UMLS:C1839615 {source="MEDGEN:374264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016106 {source="Orphanet:25980"} ! progressive muscular dystrophy is_a: MONDO:0016112 {source="Orphanet:25980"} ! hereditary inclusion-body myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22082 {source="MONDO:mim2gene_medgen"} ! VMA21 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22082 {source="OMIM:310440"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3892/x-linked-myopathy-with-excessive-autophagy" xsd:anyURI {source="GARD:0003892"} @@ -238809,7 +238058,6 @@ xref: SCTID:723410002 {source="MONDO:equivalentTo"} xref: UMLS:C2936859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:424834"} is_a: MONDO:0015159 {source="Orphanet:2608"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015356 {source="Orphanet:2608"} ! hereditary neoplastic syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9173 {source="MONDO:mim2gene_medgen"} ! POLA1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3902/n-syndrome" xsd:anyURI {source="GARD:0003902"} [Term] @@ -238835,7 +238083,6 @@ xref: SCTID:236713006 {source="MONDO:equivalentTo"} xref: UMLS:C0403720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96047"} is_a: MONDO:0008171 {source="MESH:C562901", source="https://orcid.org/0000-0002-6601-2165"} ! nephrolithiasis is_a: MONDO:0100191 {source="https://orcid.org/0000-0002-0736-9199"} ! inherited kidney disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2023 {source="MONDO:mim2gene_medgen"} ! CLCN5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -238891,7 +238138,6 @@ xref: SCTID:763400005 {source="MONDO:equivalentTo"} xref: UMLS:C0795910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162891"} is_a: MONDO:0015626 {source="DOID:0110212/inferred", source="MONDO:Redundant", source="OMIM:310490", source="Orphanet:101078/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018994 {source="DOID:0110212", source="Orphanet:101078"} ! Charcot-Marie-Tooth disease type X -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8768 {source="MONDO:mim2gene_medgen"} ! AIFM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -238929,10 +238175,10 @@ is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! i is_a: MONDO:0044749 {source="https://orcid.org/0000-0002-6601-2165"} ! X-linked congenital stationary night blindness is_a: MONDO:0800407 {source="https://clinicalgenome.org/affiliation/40072/"} ! NYX-related retinopathy intersection_of: MONDO:0016293 ! congenital stationary night blindness -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8082 ! NYX +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8082 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8082 {source="MONDO:mim2gene_medgen"} ! NYX +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8082 {source="OMIM:310500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI @@ -238982,7 +238228,6 @@ xref: UMLS:C0266526 {source="MEDGEN:75615", source="MONDO:equivalentTo", source= is_a: MONDO:0020247 {source="Orphanet:649"} ! congenital vitreoretinal dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010691 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:649", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7678 {source="MONDO:mim2gene_medgen"} ! NDP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7224/norrie-disease" xsd:anyURI {source="GARD:0007224"} @@ -239022,7 +238267,6 @@ xref: UMLS:C1839580 {source="MEDGEN:333352", source="MONDO:equivalentTo", source is_a: MONDO:0005712 {source="DC-OMIM:310700", source="DOID:0111790", source="MONDO:Redundant", source="OMIM:310700"} ! congenital nystagmus intersection_of: MONDO:0005712 ! congenital nystagmus intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8079 ! FRMD7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8079 {source="MONDO:mim2gene_medgen"} ! FRMD7 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2969/nystagmus-1-congenital-x--linked" xsd:anyURI {source="GARD:0002969"} [Term] @@ -239141,7 +238385,6 @@ xref: UMLS:C1839566 {source="MONDO:equivalentTo", source="MEDGEN:374254", source is_a: MONDO:0015626 {source="DOID:0110210/inferred", source="MONDO:Redundant", source="OMIM:311070", source="Orphanet:99014/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018994 {source="DOID:0110210", source="Orphanet:99014"} ! Charcot-Marie-Tooth disease type X is_a: MONDO:0019236 {source="Orphanet:99014"} ! inborn disorder of purine metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9462 {source="MONDO:mim2gene_medgen"} ! PRPS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -239212,7 +238455,6 @@ relationship: excluded_subClassOf MONDO:0015375 {source="DC-OMIM:311200", source relationship: excluded_subClassOf MONDO:0019287 {source="Orphanet:2750", source="https://orcid.org/0000-0001-5208-3432"} ! ectodermal dysplasia syndrome relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2750", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0021029 {source="Orphanet:2750", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary sebaceous gland anomaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2567 {source="MONDO:mim2gene_medgen"} ! OFD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -239256,7 +238498,7 @@ xref: UMLS:C0268542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004739 {source="DOID:9271", source="MESH:D020163", source="MONDO:Redundant", source="NCIT:C84957", source="OMIM:311250/inferred", source="Orphanet:664"} ! urea cycle disorder is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010703 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8512 {source="MONDO:mim2gene_medgen"} ! OTC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8512 {source="OMIM:311250"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -239296,7 +238538,6 @@ xref: UMLS:C0265251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118845"} ! syndromic disease is_a: MONDO:0019027 {source="OMIM:311300", source="Orphanet:90650"} ! otopalatodigital syndrome is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -239345,7 +238586,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0019852 {source="DC-OMIM:311360", source="OMIM:311360", source="Orphanet:642691"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3945 ! FRAXA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3945 {source="MONDO:mim2gene_medgen", source="https://www.fragilex.org.uk/"} ! FRAXA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4883" xsd:anyURI [Term] @@ -239432,7 +238672,6 @@ is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010709 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2379", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16499 {source="MONDO:mim2gene_medgen"} ! RAB39B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -239497,7 +238736,7 @@ xref: SCTID:725911008 {source="MONDO:equivalentTo"} xref: UMLS:C1839463 {source="MEDGEN:333324", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder relationship: excluded_subClassOf MONDO:0015501 {source="MONDO:0015319-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9896 {source="MONDO:mim2gene_medgen"} ! RBM10 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9896 {source="OMIM:311900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10089/tarp-syndrome" xsd:anyURI {source="GARD:0010089"} @@ -239522,7 +238761,6 @@ xref: Orphanet:90695 {source="OMIM:312000"} xref: SCTID:237683004 {source="MONDO:equivalentTo"} xref: UMLS:C0342376 {source="MEDGEN:87439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019591 {source="DOID:0111779", source="Orphanet:90695/btnt"} ! panhypopituitarism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11199 {source="MONDO:mim2gene_medgen"} ! SOX3 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6737/panhypopituitarism-x-linked" xsd:anyURI {source="GARD:0006737"} [Term] @@ -239556,7 +238794,7 @@ xref: Orphanet:2966 {source="MONDO:equivalentTo", source="OMIM:312060"} xref: SCTID:81166004 {source="MONDO:equivalentTo"} xref: UMLS:C1839454 {source="MEDGEN:333322", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8864 {source="MONDO:mim2gene_medgen"} ! CFP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8864 {source="OMIM:312060"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -239603,7 +238841,6 @@ is_a: MONDO:0005559 {source="MESH:D020371/inferred", source="MONDO:Redundant", s is_a: MONDO:0019046 {source="DOID:3210", source="DOID:3210/inferred", source="OMIM:312080", source="Orphanet:702"} ! leukodystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010714 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:702", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9086 {source="MONDO:mim2gene_medgen"} ! PLP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7081" xsd:anyURI @@ -239679,7 +238916,7 @@ xref: Orphanet:79243 {source="MONDO:equivalentTo", source="OMIM:312170"} xref: SCTID:124593001 {source="MONDO:equivalentTo"} xref: UMLS:C1839413 {source="MEDGEN:326486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019169 {source="DC-OMIM:312170", source="OMIM:312170", source="Orphanet:79243"} ! pyruvate dehydrogenase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8806 {source="MONDO:mim2gene_medgen"} ! PDHA1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8806 {source="OMIM:312170"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -239763,7 +239000,6 @@ xref: SCTID:122811000119101 {source="MONDO:equivalentTo"} xref: UMLS:C0268301 {source="MEDGEN:82785", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="MESH:C538435/inferred"} ! hereditary disease is_a: MONDO:0019154 {source="DOID:0080776", source="NCIT:C120192", source="Orphanet:90797"} ! androgen insensitivity syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/644 {source="MONDO:mim2gene_medgen"} ! AR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome" xsd:anyURI {source="GARD:0005692"} @@ -239823,9 +239059,9 @@ xref: UMLS:C2681923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:312600", source="DOID:0110415", source="MESH:C567523", source="MONDO:Redundant", source="OMIM:312600"} ! retinitis pigmentosa is_a: MONDO:0100442 {source="https://clinicalgenome.org/affiliation/40072/"} ! RP2-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10274 ! RP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10274 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10274 {source="MONDO:mim2gene_medgen"} ! RP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10274 {source="OMIM:312600"} [Term] id: MONDO:0010724 @@ -239878,7 +239114,7 @@ is_a: MONDO:0020248 {source="Orphanet:792"} ! vitreoretinal degeneration intersection_of: MONDO:0004579 ! retinoschisis intersection_of: has_characteristic HP:0001417 ! X-linked inheritance relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010725 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10457 {source="MONDO:mim2gene_medgen"} ! RS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10457 {source="OMIM:312700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -239932,7 +239168,6 @@ relationship: disease_has_feature MONDO:0005260 {source="NCIT:C88412"} ! autism relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:778", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy relationship: excluded_subClassOf MONDO:0017656 {source="Orphanet:778", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete motor stereotypies relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:778", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6990 {source="MONDO:mim2gene_medgen"} ! MECP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -240028,7 +239263,6 @@ xref: OMIM:312863 {source="MONDO:equivalentTo"} is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010730 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0015131 {source="DC-OMIM:312863", source="https://orcid.org/0000-0001-5208-3432"} ! combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6010 {source="MONDO:mim2gene_medgen"} ! IL2RG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -240139,7 +239373,6 @@ is_a: MONDO:0019046 {source="Orphanet:99015"} ! leukodystrophy is_a: MONDO:0019064 {source="DOID:0110773", source="MONDO:Redundant", source="OMIM:312920", source="Orphanet:99015/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9086 ! PLP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9086 {source="MONDO:mim2gene_medgen"} ! PLP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -240202,7 +239435,6 @@ relationship: disease_has_feature HP:0003560 ! Muscular dystrophy relationship: excluded_subClassOf MONDO:0001516 {source="DOID:0060161", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! spinal muscular atrophy relationship: excluded_subClassOf MONDO:0005372 {source="MONDO:0018388-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! male infertility relationship: excluded_subClassOf MONDO:0016115 {source="Orphanet:481", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete bulbospinal muscular atrophy of adulthood -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/644 {source="MONDO:mim2gene_medgen"} ! AR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -240261,7 +239493,7 @@ is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia is_a: MONDO:0019667 {source="DOID:0080362", source="Orphanet:93284"} ! spondyloepiphyseal dysplasia tarda intersection_of: MONDO:0019667 ! spondyloepiphyseal dysplasia tarda intersection_of: has_characteristic HP:0001417 ! X-linked inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23068 {source="MONDO:mim2gene_medgen"} ! TRAPPC2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23068 {source="OMIM:313400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4985/spondyloepiphyseal-dysplasia-tarda-x-linked" xsd:anyURI {source="GARD:0004985"} @@ -240337,7 +239569,6 @@ is_a: MONDO:0003847 {source="MESH:C567060/inferred"} ! hereditary disease is_a: MONDO:0005486 {source="DC-OMIM:313500", source="MONDO:Redundant", source="OMIM:313500"} ! tooth agenesis intersection_of: MONDO:0005486 ! tooth agenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3157 ! EDA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3157 {source="MONDO:mim2gene_medgen"} ! EDA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -240409,7 +239640,6 @@ xref: UMLS:C1839163 {source="MEDGEN:326416", source="MONDO:equivalentTo", source is_a: MONDO:0100241 {source="DC-OMIM:313900", source="MONDO:Redundant", source="MONDO:indirect", source="OMIM:313900"} ! inherited thrombocytopenia intersection_of: MONDO:0100241 ! inherited thrombocytopenia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12731 ! WAS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12731 {source="MONDO:mim2gene_medgen"} ! WAS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -240450,7 +239680,6 @@ xref: SCTID:718196002 {source="MONDO:equivalentTo"} xref: UMLS:C1839161 {source="MONDO:equivalentTo", source="MEDGEN:326415", source="MONDO:MEDGEN"} is_a: MONDO:0017145 ! beta-thalassemia and related diseases is_a: MONDO:0100089 {source="https://github.com/monarch-initiative/mondo/issues/1018"} ! GATA1-Related X-Linked Cytopenia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4170 {source="MONDO:mim2gene_medgen"} ! GATA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -240505,7 +239734,6 @@ is_a: MONDO:0005395 {source="DOID:0090057/inferred", source="MESH:C564048/inferr is_a: MONDO:0020065 {source="https://orcid.org/0000-0002-4142-7153"} ! combined dystonia is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder is_a: MONDO:0044807 {source="DOID:0090057/inferred", source="MESH:C564048", source="MONDO:Redundant", source="OMIM:314250"} ! inherited dystonia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11535 {source="MONDO:mim2gene_medgen"} ! TAF1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -240659,7 +239887,6 @@ xref: Orphanet:555877 {source="MONDO:equivalentTo"} xref: SCTID:718128009 {source="MONDO:equivalentTo"} xref: UMLS:C0262436 {source="MEDGEN:78083", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020289 {source="Orphanet:1864"} ! congenital tricuspid malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1096/cardiac-valvular-dysplasia-x-linked" xsd:anyURI {source="GARD:0001096"} [Term] @@ -240989,6 +240216,7 @@ xref: Orphanet:1646 {source="OMIM:415000"} xref: UMLS:C1839071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326394"} is_a: MONDO:0004983 {source="DC-OMIM:415000", source="DOID:0070187", source="OMIM:415000"} ! spermatogenic failure is_a: MONDO:0015607 {source="Orphanet:1646/btnt"} ! partial chromosome Y deletion +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12633 {source="OMIM:415000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -241209,7 +240437,6 @@ xref: OMIM:500007 {source="MONDO:equivalentTo"} xref: UMLS:C0152164 {source="MEDGEN:57509", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100070 {source="PMID:22634989"} ! neuroendocrine disorder relationship: disease_has_major_feature HP:0002017 {source="PMID:25332060"} ! Nausea and vomiting -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7490 ! MT-TL1 [Term] id: MONDO:0010779 @@ -241613,7 +240840,6 @@ xref: Orphanet:254857 {source="MONDO:equivalentTo", source="OMIM:551000"} xref: SCTID:766251006 {source="MONDO:equivalentTo"} xref: UMLS:C1838876 {source="MEDGEN:374077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009637 {source="DC-OMIM:551000", source="MESH:C564017"} ! inborn mitochondrial myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7499 {source="MONDO:mim2gene_medgen"} ! MT-TT [Term] id: MONDO:0010793 @@ -241656,7 +240882,6 @@ is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020127 ! hereditary peripheral neuropathy is_a: MONDO:0100033 ! metabolic epilepsy relationship: has_characteristic SO:1000008 ! point_mutation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7414 {source="MONDO:mim2gene_medgen"} ! MT-ATP6 [Term] id: MONDO:0010795 @@ -241684,7 +240909,6 @@ xref: MESH:C564015 {source="MONDO:equivalentTo"} xref: OMIM:556500 {source="MONDO:equivalentTo"} xref: UMLS:C1838867 {source="MEDGEN:333199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005180 {source="DC-OMIM:556500", source="MESH:C564015"} ! Parkinson disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7499 {source="MONDO:mim2gene_medgen"} ! MT-TT [Term] id: MONDO:0010797 @@ -241849,7 +241073,6 @@ xref: UMLS:C4012454 {source="MEDGEN:860891", source="MONDO:equivalentTo", source is_a: MONDO:0002254 {source="DOID:0111733", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="Orphanet:2255", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4174 {source="MONDO:mim2gene_medgen"} ! GATA6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI @@ -241880,7 +241103,6 @@ xref: UMLS:C1838779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018230 {source="Orphanet:79106"} ! skeletal dysplasia relationship: disease_has_feature HP:0004348 {source="Orphanet:79106"} ! Abnormality of bone mineral density relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:79106", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9608 {source="MONDO:mim2gene_medgen"} ! PTH1R property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -241952,9 +241174,9 @@ xref: OMIM:600059 {source="DOID:0110403", source="MONDO:equivalentTo"} xref: UMLS:C1838702 {source="MEDGEN:325486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019200 {source="DC-OMIM:600059", source="DOID:0110403", source="MESH:C564008", source="MONDO:Redundant", source="OMIM:600059"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17340 ! PRPF8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17340 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17340 {source="MONDO:mim2gene_medgen"} ! PRPF8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17340 {source="OMIM:600059"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10388/retinitis-pigmentosa-13" xsd:anyURI {source="GARD:0010388"} [Term] @@ -241983,7 +241205,6 @@ xref: UMLS:C1838701 {source="MEDGEN:325485", source="MONDO:equivalentTo", source is_a: MONDO:0019588 {source="DC-OMIM:600060", source="DOID:0110477", source="MONDO:Redundant", source="OMIM:600060"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7606 ! MYO7A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7606 {source="MONDO:mim2gene_medgen"} ! MYO7A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -242022,7 +241243,6 @@ xref: UMLS:C0206042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005429 {source="DOID:0050433", source="MESH:D034062", source="MONDO:Redundant", source="MONDO:indirect"} ! prion disease is_a: MONDO:0013600 {source="MESH:D034062", source="NCIT:C84711"} ! insomnia is_a: MONDO:0024237 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited neurodegenerative disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9449 {source="MONDO:mim2gene_medgen"} ! PRNP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6429/fatal-familial-insomnia" xsd:anyURI {source="GARD:0006429"} @@ -242074,9 +241294,9 @@ xref: UMLS:C1838657 {source="MEDGEN:374020", source="MONDO:equivalentTo", source is_a: MONDO:0009924 {source="MONDO:Redundant", source="Orphanet:289157/btnt"} ! vitamin D-dependent rickets, type 1 is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder intersection_of: MONDO:0009924 ! vitamin D-dependent rickets, type 1 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20580 ! CYP2R1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20580 relationship: disease_has_basis_in_disruption_of GO:0030343 ! vitamin D3 25-hydroxylase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20580 {source="MONDO:mim2gene_medgen"} ! CYP2R1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20580 {source="OMIM:600081"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -242169,6 +241389,7 @@ is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0020040 ! 46,XY disorder of sex development is_a: MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0018232 {source="Orphanet:1422", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with micromelia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18270 {source="OMIM:600092"} [Term] id: MONDO:0010815 @@ -242246,8 +241467,8 @@ xref: OMIM:600101 {source="DOID:0110558", source="MONDO:equivalentTo"} xref: UMLS:C2677637 {source="MEDGEN:436997", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019587 {source="DC-OMIM:600101", source="DOID:0110558", source="MONDO:Redundant", source="OMIM:600101"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6298 ! KCNQ4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6298 {source="MONDO:mim2gene_medgen"} ! KCNQ4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6298 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6298 {source="OMIM:600101"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -242278,7 +241499,6 @@ xref: UMLS:C1838647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:600105", source="DOID:0110358", source="MESH:C563999", source="MONDO:Redundant", source="OMIM:600105"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2343 ! CRB1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2343 {source="MONDO:mim2gene_medgen"} ! CRB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10376/retinitis-pigmentosa-12" xsd:anyURI {source="GARD:0010376"} @@ -242304,7 +241524,6 @@ is_a: MONDO:0019353 {source="DC-OMIM:600110"} ! Stargardt disease is_a: MONDO:0700227 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! ELOVL4-related maculopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010819 {source="MONDO:CLINGEN"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14415 {source="OMIM:600110"} ! ELOVL4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -242341,7 +241560,6 @@ is_a: MONDO:0005180 {source="DOID:0060368/inferred", source="MONDO:Redundant", s is_a: MONDO:0017279 {source="DOID:0060368", source="MONDO:Redundant", source="Orphanet:2828/btnt"} ! young-onset Parkinson disease intersection_of: MONDO:0017279 ! young-onset Parkinson disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8607 ! PRKN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8607 {source="MONDO:mim2gene_medgen"} ! PRKN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -242397,7 +241615,6 @@ is_a: MONDO:0016649 {source="DC-OMIM:600118", source="DOID:0110716", source="MON intersection_of: MONDO:0016649 ! Warburg micro syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17063 ! RAB3GAP1 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:600118"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17063 {source="MONDO:mim2gene_medgen"} ! RAB3GAP1 [Term] id: MONDO:0010823 @@ -242432,9 +241649,9 @@ is_a: MONDO:0015776 {source="DC-OMIM:600121", source="DOID:0110853", source="MES is_a: MONDO:0019701 {source="PMID:31633310"} ! chondrodysplasia punctata is_a: MONDO:0100274 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! alkylglycerone-phosphate synthase deficiency intersection_of: MONDO:0015776 ! rhizomelic chondrodysplasia punctata -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/327 ! AGPS +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/327 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/327 {source="MONDO:mim2gene_medgen"} ! AGPS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/327 {source="OMIM:600121"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9682/rhizomelic-chondrodysplasia-punctata-type-3" xsd:anyURI {source="GARD:0009682"} @@ -242565,7 +241782,6 @@ xref: UMLS:C1838603 {source="MEDGEN:325056", source="MONDO:equivalentTo", source is_a: MONDO:0019200 {source="DC-OMIM:600132", source="DOID:0110381", source="MONDO:Redundant", source="OMIM:600132"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12423 ! TULP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12423 {source="MONDO:mim2gene_medgen"} ! TULP1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10385/retinitis-pigmentosa-14" xsd:anyURI {source="GARD:0010385"} [Term] @@ -242591,9 +241807,9 @@ xref: UMLS:C1838601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:600138", source="DOID:0110408", source="MESH:C563991", source="MONDO:Redundant", source="OMIM:600138"} ! retinitis pigmentosa is_a: MONDO:0800395 {source="https://clinicalgenome.org/affiliation/40072/"} ! PRPF31-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15446 ! PRPF31 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15446 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15446 {source="MONDO:mim2gene_medgen"} ! PRPF31 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15446 {source="OMIM:600138"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10383/retinitis-pigmentosa-11" xsd:anyURI {source="GARD:0010383"} @@ -242628,7 +241844,6 @@ xref: SCTID:703219008 {source="MONDO:equivalentTo"} xref: UMLS:C1838577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325051"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0007432 {source="OMIM:600142"} ! cerebral arteriopathy with subcortical infarcts and leukoencephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9476 {source="MONDO:mim2gene_medgen"} ! HTRA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI [Term] @@ -242666,7 +241881,6 @@ is_a: MONDO:0016295 {source="DOID:0110723", source="MONDO:DOID", source="MONDO:R is_a: MONDO:0019262 {source="Orphanet:228354", source="Orphanet:79264/btnt"} ! juvenile neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2079 ! CLN8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2079 {source="MONDO:mim2gene_medgen"} ! CLN8 [Term] id: MONDO:0010831 @@ -242702,7 +241916,6 @@ xref: SCTID:722493007 {source="MONDO:equivalentTo"} xref: UMLS:C2931053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:418973"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C99054"} ! syndromic disease is_a: MONDO:0018639 {source="Orphanet:1768"} ! caudal regression-sirenomelia spectrum -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15512 {source="MONDO:mim2gene_medgen"} ! VANGL1 [Term] id: MONDO:0010832 @@ -242723,7 +241936,6 @@ xref: Orphanet:110 {source="OMIM:600151"} xref: UMLS:C1859564 {source="MEDGEN:347179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015229 {source="DC-OMIM:600151", source="DOID:0110125", source="MESH:C537911", source="OMIM:600151"} ! Bardet-Biedl syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:600151"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13210 {source="MONDO:mim2gene_medgen"} ! ARL6 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/822/bardet-biedl-syndrome-3" xsd:anyURI {source="GARD:0000822"} [Term] @@ -242745,7 +241957,6 @@ xref: UMLS:C1838564 {source="MEDGEN:374002", source="MONDO:equivalentTo", source is_a: MONDO:0100179 {source="DC-OMIM:600155", source="MONDO:Redundant", source="OMIM:600155"} ! Hirschsprung disease, susceptibility to intersection_of: MONDO:0100179 ! Hirschsprung disease, susceptibility to intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3180 ! EDNRB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3180 {source="MONDO:mim2gene_medgen"} ! EDNRB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2698/hirschsprung-disease-type-2" xsd:anyURI {source="GARD:0002698"} @@ -242883,7 +242094,6 @@ xref: SCTID:763067000 {source="MONDO:equivalentTo"} xref: UMLS:C1838492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373984"} is_a: MONDO:0001516 {source="DC-OMIM:600175", source="MESH:C563981"} ! spinal muscular atrophy is_a: MONDO:0015362 {source="DOID:0111215", source="OMIM:600175", source="Orphanet:1216"} ! neuronopathy, distal hereditary motor, autosomal dominant -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4 [Term] id: MONDO:0010840 @@ -242964,7 +242174,6 @@ is_a: MONDO:0000426 {source="DOID:0050792", source="MONDO:Redundant"} ! autosoma is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:600195", source="Orphanet:2451"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11724 {source="MONDO:mim2gene_medgen"} ! TEK property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI [Term] @@ -242983,7 +242192,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0005489 ! dyslexia relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: excluded_subClassOf MONDO:0005489 {source="DC-OMIM:600202", source="https://orcid.org/0000-0001-5208-3432"} ! dyslexia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21580 {source="MONDO:mim2gene_medgen"} ! KIAA0319 relationship: predisposes_towards MONDO:0005489 {source="https://orcid.org/0000-0002-4142-7153"} ! dyslexia [Term] @@ -243011,7 +242219,6 @@ is_a: MONDO:0015627 {source="DOID:0070298", source="Orphanet:166002/btnt"} ! mul is_a: MONDO:0016648 {source="MONDO:Redundant", source="OMIM:600204"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2218 ! COL9A2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2218 {source="MONDO:mim2gene_medgen"} ! COL9A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9791/multiple-epiphyseal-dysplasia-2" xsd:anyURI {source="GARD:0009791"} @@ -243086,7 +242293,6 @@ xref: Orphanet:98766 {source="OMIM:600224", source="MONDO:equivalentTo"} xref: SCTID:719302009 {source="MONDO:equivalentTo"} xref: UMLS:C0752123 {source="MEDGEN:155705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019793 {source="Orphanet:98766"} ! autosomal dominant cerebellar ataxia type III -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11276 {source="MONDO:mim2gene_medgen"} ! SPTBN2 [Term] id: MONDO:0010849 @@ -243109,7 +242315,7 @@ is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="htt is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0017666 {source="https://orcid.org/0000-0001-5208-3432"} ! diffuse palmoplantar keratoderma relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010849 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/638 {source="OMIM:600231"} ! AQP5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/638 {source="OMIM:600231"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -243136,7 +242342,6 @@ xref: OMIM:600251 {source="MONDO:equivalentTo", source="Orphanet:141258", source xref: Orphanet:141258 {source="MONDO:equivalentTo", source="OMIM:600251"} xref: UMLS:C4703420 {source="MEDGEN:1642051", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015824 ! oculomaxillofacial dysostosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29022 {source="MONDO:mim2gene_medgen"} ! SPECC1L [Term] id: MONDO:0010851 @@ -243399,8 +242604,8 @@ xref: OMIM:600316 {source="MONDO:equivalentTo", source="DOID:0110488"} xref: UMLS:C1838263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325373"} is_a: MONDO:0019588 {source="DC-OMIM:600316", source="DOID:0110488", source="MONDO:Redundant", source="OMIM:600316"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7594 ! MYO15A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7594 {source="MONDO:mim2gene_medgen"} ! MYO15A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7594 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7594 {source="OMIM:600316"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -243460,11 +242665,11 @@ xref: OMIM:600320 {source="DOID:0110744", source="MONDO:equivalentTo"} xref: UMLS:C1838260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325371"} is_a: MONDO:0020573 {source="OMIM:600320"} ! inherited disease susceptibility intersection_of: MONDO:0020573 {source="OMIM:600320"} ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21181 {source="OMIM:600320"} ! SUMO4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21181 {source="OMIM:600320"} intersection_of: predisposes_towards MONDO:0005147 {source="OMIM:600320"} ! type 1 diabetes mellitus relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:600320", source="DOID:0110744", source="MESH:C563958", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21181 {source="MONDO:mim2gene_medgen"} ! SUMO4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21181 {source="OMIM:600320"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI [Term] @@ -243632,7 +242837,6 @@ is_a: MONDO:0016108 {source="Orphanet:609"} ! autosomal dominant distal myopathy is_a: MONDO:0018949 {source="DOID:0111078", source="MONDO:Redundant", source="Orphanet:609/inferred"} ! distal myopathy is_a: MONDO:0100494 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal dominant titinopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010870 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 {source="MONDO:mim2gene_medgen"} ! TTN [Term] id: MONDO:0010871 @@ -243671,7 +242875,7 @@ xref: OMIM:600348 {source="MONDO:equivalentTo"} xref: Orphanet:99796 {source="OMIM:600348"} xref: UMLS:C4284594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:924885"} is_a: MONDO:0020491 {source="Orphanet:99796/btnt"} ! subcortical band heterotopia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3330 {source="MONDO:mim2gene_medgen"} ! EML1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3330 {source="OMIM:600348"} [Term] id: MONDO:0010874 @@ -243781,8 +242985,8 @@ xref: SCTID:732949006 {source="MONDO:equivalentTo"} xref: UMLS:C1838192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324965"} is_a: MONDO:0019064 {source="DOID:0110811", source="MESH:C536866", source="MONDO:Redundant", source="OMIM:600363", source="Orphanet:100988/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17043 ! NIPA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17043 {source="MONDO:mim2gene_medgen"} ! NIPA1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17043 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17043 {source="OMIM:600363"} [Term] id: MONDO:0010879 @@ -243814,7 +243018,7 @@ is_a: MONDO:0002254 {source="DOID:0111274", source="NCIT:C126744"} ! syndromic d is_a: MONDO:0015161 {source="Orphanet:1458"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0016761 {source="Orphanet:1458", source="PMID:31633310"} ! spondyloepiphyseal dysplasia is_a: MONDO:0021147 {source="Orphanet:1458", source="Orphanet:1458/inferred"} ! disorder of development or morphogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9479 {source="MONDO:mim2gene_medgen"} ! LONP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9479 {source="OMIM:600373"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1418/codas-syndrome" xsd:anyURI {source="GARD:0001418"} @@ -243842,10 +243046,10 @@ xref: Orphanet:774 {source="OMIM:600376"} xref: UMLS:C1838163 {source="MEDGEN:324960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019180 {source="DC-OMIM:600376", source="MONDO:Redundant", source="OMIM:600376"} ! hereditary hemorrhagic telangiectasia intersection_of: MONDO:0019180 ! hereditary hemorrhagic telangiectasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/175 ! ACVRL1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/175 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010880 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:600376"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/175 {source="MONDO:mim2gene_medgen"} ! ACVRL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/175 {source="OMIM:600376"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9901/hereditary-hemorrhagic-telangiectasia-type-2" xsd:anyURI {source="GARD:0009901"} [Term] @@ -244215,7 +243419,6 @@ xref: UMLS:C1838100 {source="MEDGEN:324942", source="MONDO:equivalentTo", source is_a: MONDO:0018911 {source="DC-OMIM:600496", source="DOID:0111102", source="MONDO:Redundant"} ! maturity-onset diabetes of the young intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11621 ! HNF1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11621 {source="MONDO:mim2gene_medgen"} ! HNF1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10658/maturity-onset-diabetes-of-the-young-type-3" xsd:anyURI {source="GARD:0010658"} @@ -244239,7 +243442,6 @@ relationship: disease_has_feature HP:0000407 ! Sensorineural hearing impairment relationship: disease_has_feature HP:0001022 ! Albinism relationship: excluded_subClassOf MONDO:0005093 {source="DOID:0050600", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:600501"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3180 {source="MONDO:mim2gene_medgen"} ! EDNRB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI [Term] @@ -244353,7 +243555,6 @@ is_a: MONDO:0000030 {source="DC-OMIM:600513", source="OMIM:600513"} ! sleep-rela is_a: MONDO:0020300 {source="DOID:0060682", source="MONDO:Redundant"} ! autosomal dominant nocturnal frontal lobe epilepsy intersection_of: MONDO:0020300 ! autosomal dominant nocturnal frontal lobe epilepsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1958 ! CHRNA4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1958 {source="MONDO:mim2gene_medgen"} ! CHRNA4 [Term] id: MONDO:0010900 @@ -244491,7 +243692,6 @@ is_a: MONDO:0016044 {source="Orphanet:199306/btnt"} ! cleft lip/palate intersection_of: MONDO:0000358 ! orofacial cleft intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1071 ! BMP4 relationship: has_characteristic MONDO:0021128 ! has an isolated presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1071 {source="MONDO:mim2gene_medgen"} ! BMP4 [Term] id: MONDO:0010907 @@ -244519,7 +243719,7 @@ xref: SCTID:721838005 {source="MONDO:equivalentTo"} xref: UMLS:C2931837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419177"} is_a: MONDO:0017350 {source="Orphanet:2224"} ! inborn disorder of tryptophan metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010907 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11708 {source="MONDO:mim2gene_medgen"} ! TDO2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11708 {source="OMIM:600627"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2871/hypertryptophanemia" xsd:anyURI {source="GARD:0002871"} @@ -244570,7 +243770,6 @@ is_a: MONDO:0015797 {source="DC-OMIM:600630", source="MONDO:Redundant", source=" intersection_of: MONDO:0015797 ! UV-sensitive syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 ! ERCC6 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:600630"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 {source="MONDO:mim2gene_medgen"} ! ERCC6 [Term] id: MONDO:0010910 @@ -244646,7 +243845,6 @@ xref: UMLS:C0033375 {source="MONDO:equivalentTo", source="MEDGEN:10936", source= is_a: MONDO:0003430 {source="NCIT:C3342"} ! prolactin producing pituitary tumor is_a: MONDO:0006373 {source="DOID:5394/inferred", source="MONDO:Redundant", source="NCIT:C3342", source="Orphanet:2965/inferred"} ! pituitary gland adenoma is_a: MONDO:0017824 {source="Orphanet:314777/btnt"} ! familial isolated pituitary adenoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/358 {source="MONDO:mim2gene_medgen"} ! AIP [Term] id: MONDO:0010912 @@ -244673,7 +243871,6 @@ is_a: MONDO:0100154 {source="https://clinicalgenome.org/affiliation/40006/"} ! T intersection_of: MONDO:0007614 ! congenital fibrosis of extraocular muscles intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20772 ! TUBB3 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20772 {source="MONDO:mim2gene_medgen"} ! TUBB3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5506" xsd:anyURI @@ -244747,7 +243944,6 @@ xref: Orphanet:157 {source="OMIM:600649"} xref: Orphanet:228305 {source="MONDO:equivalentTo", source="OMIM:600649"} xref: UMLS:C1833511 {source="MEDGEN:322211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015515 {source="DC-OMIM:600649", source="Orphanet:228305"} ! carnitine palmitoyltransferase II deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2330 {source="MONDO:mim2gene_medgen"} ! CPT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -244777,7 +243973,6 @@ xref: UMLS:C1833503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019587 {source="DC-OMIM:600652", source="DOID:0110573", source="MONDO:Redundant", source="OMIM:600652"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23212 ! MYH14 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23212 {source="MONDO:mim2gene_medgen"} ! MYH14 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -244810,10 +244005,10 @@ xref: Orphanet:730 {source="OMIM:600666"} xref: UMLS:C3887964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854672"} is_a: MONDO:0004691 {source="DC-OMIM:600666", source="DOID:0110860", source="MONDO:Redundant", source="OMIM:600666"} ! autosomal dominant polycystic kidney disease intersection_of: MONDO:0004691 ! autosomal dominant polycystic kidney disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4138 ! GANAB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4138 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010916 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:600666"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4138 {source="MONDO:mim2gene_medgen"} ! GANAB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4138 {source="OMIM:600666"} [Term] id: MONDO:0010917 @@ -244962,7 +244157,6 @@ xref: Orphanet:521305 {source="MONDO:equivalentTo"} xref: UMLS:C1833453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318881"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1938 {source="Orphanet:521305"} ! CHKB [Term] id: MONDO:0010924 @@ -245049,8 +244243,8 @@ xref: Orphanet:405 {source="OMIM:600740"} xref: UMLS:C1833372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322173"} is_a: MONDO:0018458 {source="DC-OMIM:600740", source="DOID:0060702", source="MONDO:Redundant", source="OMIM:600740", source="Orphanet:101050"} ! familial hypocalciuric hypercalcemia intersection_of: MONDO:0018458 ! familial hypocalciuric hypercalcemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/565 ! AP2S1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/565 {source="MONDO:mim2gene_medgen"} ! AP2S1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/565 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/565 {source="OMIM:600740"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -245110,7 +244304,6 @@ is_a: MONDO:0015469 {source="DC-OMIM:600775", source="MONDO:Redundant", source=" intersection_of: MONDO:0015469 ! craniosynostosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3444 ! ERF relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010929 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3444 {source="MONDO:mim2gene_medgen"} ! ERF property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI @@ -245226,6 +244419,7 @@ xref: Orphanet:90636 {source="OMIM:600791"} xref: UMLS:C3538946 {source="MONDO:equivalentTo", source="MEDGEN:761234", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:600791", source="DOID:0110498", source="MONDO:Redundant", source="OMIM:600791"} ! hearing loss, autosomal recessive relationship: disease_has_feature HP:0011387 ! Enlarged vestibular aqueduct +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3815 {source="OMIM:600791"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -245280,9 +244474,9 @@ is_a: MONDO:0005144 {source="DOID:0060208", source="MESH:C563708", source="MONDO is_a: MONDO:0017160 {source="Orphanet:275864/btnt"} ! behavioral variant of frontotemporal dementia is_a: MONDO:0030923 {source="OMIM:600795"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24537 ! CHMP2B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24537 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010936 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24537 {source="MONDO:mim2gene_medgen"} ! CHMP2B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24537 {source="OMIM:600795"} [Term] id: MONDO:0010937 @@ -245323,7 +244517,7 @@ is_a: MONDO:0015974 {source="DC-OMIM:600802", source="MESH:C563440", source="MON is_a: MONDO:0031520 {source="OMIM:600802"} ! familial severe combined immunodeficiency is_a: MONDO:0044200 {source="Orphanet:35078", source="PMID:31953710"} ! T-B+ severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010938 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6193 {source="MONDO:mim2gene_medgen"} ! JAK3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6193 {source="OMIM:600802"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -245354,7 +244548,6 @@ xref: UMLS:C2609268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002155 {source="OMIM:600803"} ! cholecystitis is_a: MONDO:0005281 {source="DC-OMIM:600803", source="MONDO:Redundant", source="OMIM:600803", source="OMIM:600803/inferred"} ! gallbladder disorder is_a: MONDO:0700225 {source="OMIM:600803"} ! hereditary gallbladder disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/45 {source="MONDO:mim2gene_medgen"} ! ABCB4 [Term] id: MONDO:0010940 @@ -245415,7 +244608,6 @@ xref: UMLS:C1833247 {source="MEDGEN:371517", source="MONDO:equivalentTo", source is_a: MONDO:0100182 {source="DC-OMIM:600850", source="DOID:0070080", source="MONDO:Redundant"} ! schizophrenia, susceptibility to intersection_of: MONDO:0100182 ! schizophrenia, susceptibility to intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9453 ! PRODH -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9453 {source="MONDO:mim2gene_medgen"} ! PRODH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -245451,7 +244643,6 @@ xref: UMLS:C1833245 {source="MEDGEN:322153", source="MONDO:equivalentTo", source is_a: MONDO:0019200 {source="DC-OMIM:600852", source="DOID:0110404", source="MESH:C563437", source="MONDO:Redundant", source="OMIM:600852"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1375 ! CA4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1375 {source="MONDO:mim2gene_medgen"} ! CA4 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10387/retinitis-pigmentosa-17" xsd:anyURI {source="GARD:0010387"} [Term] @@ -245481,7 +244672,6 @@ is_a: MONDO:0024573 {source="DOID:0110312", source="MESH:C563436", source="MONDO is_a: MONDO:0800484 {source="PMID:29298659", source="https://orcid.org/0009-0007-0138-2054", source="https://www.clinicalgenome.org/affiliation/40104/"} ! PRKAG2-related cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 ! PRKAG2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 {source="MONDO:mim2gene_medgen"} ! PRKAG2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6446" xsd:anyURI @@ -245542,8 +244732,8 @@ xref: UMLS:C1833229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005129 {source="DOID:0110258", source="MESH:C563435", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:600881"} ! cataract is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2394 ! CRYBA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2394 {source="MONDO:mim2gene_medgen"} ! CRYBA1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2394 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2394 {source="OMIM:600881"} [Term] id: MONDO:0010949 @@ -245586,8 +244776,8 @@ xref: UMLS:C1833219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015626 {source="DOID:0110159/inferred", source="MESH:C537989", source="MONDO:Redundant", source="OMIM:600882", source="Orphanet:99936/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018993 {source="DOID:0110159", source="MONDO:Redundant", source="Orphanet:99936"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9788 ! RAB7A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9788 {source="MONDO:mim2gene_medgen"} ! RAB7A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9788 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9788 {source="OMIM:600882"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9192/charcot-marie-tooth-disease-type-2b" xsd:anyURI {source="GARD:0009192"} @@ -245667,7 +244857,6 @@ xref: SCTID:702398007 {source="MONDO:equivalentTo"} xref: UMLS:C1833213 {source="MEDGEN:318812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005328 ! eye disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3999 {source="MONDO:mim2gene_medgen"} ! FTL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -245698,9 +244887,9 @@ xref: OMIM:600901 {source="MONDO:equivalentTo", source="DOID:0111084"} xref: UMLS:C3160739 {source="MEDGEN:463628", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019391 {source="DC-OMIM:600901", source="DOID:0111084", source="MONDO:Redundant", source="NCIT:C125709", source="OMIM:600901"} ! Fanconi anemia intersection_of: MONDO:0019391 ! Fanconi anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3586 ! FANCE +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3586 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010953 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3586 {source="MONDO:mim2gene_medgen"} ! FANCE +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3586 {source="OMIM:600901"} [Term] id: MONDO:0010954 @@ -245769,7 +244958,6 @@ xref: SCTID:764457005 {source="MONDO:equivalentTo"} xref: UMLS:C1970119 {source="MEDGEN:370181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002442 {source="MONDO:Redundant", source="OMIM:600919"} ! long QT syndrome is_a: MONDO:0019171 {source="OMIM:600919", source="Orphanet:101016-prototype"} ! familial long QT syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/493 {source="MONDO:mim2gene_medgen"} ! ANK2 [Term] id: MONDO:0010959 @@ -245804,7 +244992,7 @@ xref: UMLS:C1833136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015161 {source="Orphanet:2460"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015168 {source="Orphanet:2460"} ! arthrogryposis multiplex congenita relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:2460", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19869 {source="MONDO:mim2gene_medgen"} ! SCARF2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19869 {source="OMIM:600920"} [Term] id: MONDO:0010960 @@ -245845,7 +245033,6 @@ is_a: MONDO:0011122 {source="https://orcid.org/0000-0001-5208-3432"} ! obesity d is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8743 {source="MONDO:mim2gene_medgen"} ! PCSK1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -245896,7 +245083,6 @@ is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="htt is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0017666 {source="https://orcid.org/0000-0001-5208-3432"} ! diffuse palmoplantar keratoderma relationship: has_characteristic HP:0000006 {source="Orphanet:530838"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6412 {source="MONDO:mim2gene_medgen", source="Orphanet:530838"} ! KRT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4095" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -245934,7 +245120,6 @@ xref: UMLS:C1833021 {source="MEDGEN:331419", source="MONDO:equivalentTo", source is_a: MONDO:0019587 {source="DC-OMIM:600965", source="DOID:0110584", source="MONDO:Redundant", source="OMIM:600965"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12762 ! WFS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12762 {source="MONDO:mim2gene_medgen"} ! WFS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -245965,7 +245150,6 @@ is_a: MONDO:0015627 {source="DOID:0070304", source="Orphanet:166002/btnt"} ! mul is_a: MONDO:0016648 {source="MONDO:Redundant", source="OMIM:600969"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2219 ! COL9A3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2219 {source="MONDO:mim2gene_medgen"} ! COL9A3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9792/multiple-epiphyseal-dysplasia-3" xsd:anyURI {source="GARD:0009792"} @@ -245996,8 +245180,8 @@ xref: OMIM:600971 {source="DOID:0110512", source="MONDO:equivalentTo"} xref: UMLS:C1832992 {source="MEDGEN:322088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:600971", source="DOID:0110512", source="MONDO:Redundant", source="OMIM:600971"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30800 ! TMIE -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30800 {source="MONDO:mim2gene_medgen"} ! TMIE +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30800 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30800 {source="OMIM:600971"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -246034,7 +245218,6 @@ is_a: MONDO:0000226 {source="PMID:33340416", source="https://orcid.org/0000-0002 is_a: MONDO:0019648 {source="DC-OMIM:600972", source="DOID:0080055", source="OMIM:600972", source="Orphanet:93298"} ! achondrogenesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010966 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0000023 ! Inguinal hernia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10994 {source="MONDO:mim2gene_medgen"} ! SLC26A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6755" xsd:anyURI @@ -246070,7 +245253,6 @@ is_a: MONDO:0019588 {source="DC-OMIM:600974", source="DOID:0110520", source="MON intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16513 ! TMC1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010967 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16513 {source="MONDO:mim2gene_medgen"} ! TMC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -246118,8 +245300,8 @@ xref: OMIM:600977 {source="MONDO:equivalentTo", source="DOID:0111010"} xref: UMLS:C1832976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322083"} is_a: MONDO:0015993 {source="DC-OMIM:600977", source="DOID:0111010", source="MONDO:Redundant", source="OMIM:600977"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21043 ! PITPNM3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21043 {source="MONDO:mim2gene_medgen"} ! PITPNM3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21043 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21043 {source="OMIM:600977"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10655/cone-rod-dystrophy-5" xsd:anyURI {source="GARD:0010655"} [Term] @@ -246137,7 +245319,7 @@ xref: MESH:C563414 {source="MONDO:equivalentTo"} xref: OMIM:600987 {source="MONDO:equivalentTo"} xref: UMLS:C1832950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318752"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7001 {source="MONDO:mim2gene_medgen"} ! MEIS2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7001 {source="OMIM:600987"} [Term] id: MONDO:0010971 @@ -246205,8 +245387,8 @@ xref: OMIM:600994 {source="MONDO:equivalentTo", source="DOID:0110575"} xref: UMLS:C1832932 {source="MONDO:equivalentTo", source="MEDGEN:331398", source="MONDO:MEDGEN"} is_a: MONDO:0019587 {source="DC-OMIM:600994", source="DOID:0110575", source="MONDO:Redundant", source="OMIM:600994"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2810 ! GSDME -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2810 {source="MONDO:mim2gene_medgen"} ! GSDME +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2810 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2810 {source="OMIM:600994"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -246232,8 +245414,8 @@ is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:600995"} ! familial is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:600995"} ! nephrotic syndrome is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13394 ! NPHS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13394 {source="MONDO:mim2gene_medgen"} ! NPHS2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13394 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13394 {source="OMIM:600995"} [Term] id: MONDO:0010975 @@ -246299,7 +245481,7 @@ xref: SCTID:703530005 {source="MONDO:equivalentTo"} xref: UMLS:C1832918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371441"} is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy is_a: MONDO:0016199 {source="Orphanet:53347", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of protein SERCA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/811 {source="MONDO:mim2gene_medgen"} ! ATP2A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/811 {source="OMIM:601003"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy" xsd:anyURI {source="GARD:0009158"} [Term] @@ -246352,7 +245534,6 @@ relationship: disease_has_feature MONDO:0000190 {source="MONDO:Wikidata"} ! vent relationship: disease_has_feature MONDO:0000992 {source="MONDO:Wikidata"} ! heart conduction disease relationship: excluded_subClassOf MONDO:0019171 {source="MONDO:Redundant", source="OMIM:601005", source="Orphanet:65283", source="https://orcid.org/0000-0001-5208-3432"} ! familial long QT syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:601005", source="Orphanet:65283"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1390 {source="MONDO:mim2gene_medgen"} ! CACNA1C property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome" xsd:anyURI {source="GARD:0009294"} [Term] @@ -246488,6 +245669,7 @@ xref: Orphanet:86814 {source="OMIM:601068"} xref: UMLS:C1832841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371424"} is_a: MONDO:0000160 {source="DC-OMIM:601068", source="DOID:0111690", source="OMIM:601068"} ! epilepsy, familial adult myoclonic relationship: excluded_subClassOf MONDO:0019448 {source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31750 {source="OMIM:601068"} [Term] id: MONDO:0010986 @@ -246522,7 +245704,6 @@ is_a: MONDO:0021944 {source="OMIM:601071"} ! auditory neuropathy intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8515 ! OTOF relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010986 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8515 {source="MONDO:mim2gene_medgen"} ! OTOF property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -246555,6 +245736,7 @@ xref: MEDGEN:322046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601072 {source="DOID:0110527", source="MONDO:equivalentTo"} xref: UMLS:C1832827 {source="MEDGEN:322046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:601072", source="DOID:0110527", source="OMIM:601072"} ! hearing loss, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11877 {source="OMIM:601072"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -246664,7 +245846,6 @@ xref: UMLS:C1832812 {source="MEDGEN:371416", source="MONDO:equivalentTo", source is_a: MONDO:0002254 {source="DOID:0111688", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:477668"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:477668", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6776 {source="MONDO:mim2gene_medgen"} ! MAF property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -246750,8 +245931,8 @@ xref: UMLS:C0270913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015626 {source="DOID:0110151/inferred", source="MESH:C537984", source="MONDO:Redundant", source="OMIM:601098", source="Orphanet:101083/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0019011 {source="DOID:0110151", source="MONDO:Redundant", source="Orphanet:101083"} ! Charcot-Marie-Tooth disease type 1 intersection_of: MONDO:0019011 ! Charcot-Marie-Tooth disease type 1 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16841 ! LITAF -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16841 {source="MONDO:mim2gene_medgen"} ! LITAF +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16841 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16841 {source="OMIM:601098"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1247/charcot-marie-tooth-disease-type-1c" xsd:anyURI {source="GARD:0001247"} @@ -246802,7 +245983,6 @@ xref: Orphanet:240071 {source="OMIM:601104", source="MONDO:equivalentTo"} xref: Orphanet:683 {source="OMIM:601104"} xref: UMLS:C4551863 {source="MEDGEN:1640811", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019037 {source="DC-OMIM:601104", source="OMIM:601104", source="Orphanet:240071"} ! progressive supranuclear palsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6893 {source="MONDO:mim2gene_medgen"} ! MAPT property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -246851,7 +246031,7 @@ is_a: MONDO:0015286 {source="MESH:C535742", source="MONDO:0010998/inferred", sou is_a: MONDO:0017740 {source="Orphanet:79321"} ! disorder of protein N-glycosylation relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010998 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23056 {source="MONDO:mim2gene_medgen"} ! ALG3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23056 {source="OMIM:601110"} [Term] id: MONDO:0010999 @@ -246918,7 +246098,6 @@ is_a: MONDO:0015263 {source="DC-OMIM:601144", source="DOID:0110218", source="MON intersection_of: MONDO:0015263 ! Brugada syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 ! SCN5A relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011001 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 {source="MONDO:mim2gene_medgen"} ! SCN5A [Term] id: MONDO:0011002 @@ -246945,7 +246124,6 @@ is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:601152"} ! Charcot-M is_a: MONDO:0019551 {source="MONDO:Redundant"} ! hereditary motor and sensory neuropathy type 6 intersection_of: MONDO:0019551 ! hereditary motor and sensory neuropathy type 6 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16877 ! MFN2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16877 {source="MONDO:mim2gene_medgen"} ! MFN2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -246977,7 +246155,6 @@ xref: Orphanet:154 {source="OMIM:601154"} xref: UMLS:C1832680 {source="MEDGEN:331341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:601154"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 {source="MONDO:mim2gene_medgen"} ! SCN5A property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5644/cardiomyopathy-dilated-with-conduction-defect-type-2" xsd:anyURI {source="GARD:0005644"} [Term] @@ -247045,7 +246222,6 @@ xref: Orphanet:447753 {source="DOID:0110824", source="MONDO:equivalentTo"} xref: UMLS:C5568978 {source="MEDGEN:1800401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015091 {source="Orphanet:447753"} ! autosomal dominant spastic paraplegia type 9 is_a: MONDO:0019064 {source="DOID:0110824", source="MESH:C536868", source="MONDO:Redundant", source="OMIM:601162", source="Orphanet:447753/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 {source="MONDO:mim2gene_medgen"} ! ALDH18A1 property_value: IAO:0000233 "https://github.com/Orphanet/ORDO/issues/8" xsd:anyURI [Term] @@ -247154,7 +246330,6 @@ is_a: MONDO:0015161 {source="Orphanet:2470"} ! multiple congenital anomalies/dys is_a: MONDO:0015929 {source="Orphanet:2470"} ! thoracic malformation is_a: MONDO:0016073 {source="DOID:0111807", source="OMIM:601186", source="Orphanet:2470"} ! syndromic microphthalmia relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:2470", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic respiratory or mediastinal malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30650 {source="MONDO:mim2gene_medgen"} ! STRA6 [Term] id: MONDO:0011011 @@ -247247,7 +246422,6 @@ is_a: MONDO:0018543 {source="DOID:0090107", source="MONDO:Redundant", source="OM intersection_of: MONDO:0018543 ! autosomal dominant hypocalcemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1514 ! CASR relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011013 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1514 {source="MONDO:mim2gene_medgen"} ! CASR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -247294,7 +246468,6 @@ is_a: MONDO:0005933 {source="DOID:4769", source="MESH:C537516", source="MONDO:Re is_a: MONDO:0100216 {source="https://clinicalgenome.org/affiliation/40023/"} ! DICER1-related tumor predisposition intersection_of: MONDO:0005933 ! pulmonary blastoma intersection_of: has_characteristic HP:0011463 ! Childhood onset -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17098 {source="MONDO:mim2gene_medgen"} ! DICER1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7051" xsd:anyURI [Term] @@ -247390,7 +246563,6 @@ is_a: MONDO:0100080 {source="https://orcid.org/0000-0002-6733-369X"} ! cardioect relationship: excluded_subClassOf MONDO:0017666 {source="MONDO:0017671-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diffuse palmoplantar keratoderma relationship: excluded_subClassOf MONDO:0019282 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic hair shaft abnormality relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:601214", source="Orphanet:34217"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6207 {source="MONDO:mim2gene_medgen"} ! JUP property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9795/naxos-disease" xsd:anyURI {source="GARD:0009795"} [Term] @@ -247426,7 +246598,6 @@ xref: SCTID:716195006 {source="MONDO:equivalentTo"} xref: UMLS:C1832594 {source="MEDGEN:318659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002081 {source="GARD:0005478", source="https://orcid.org/0000-0001-5208-3432"} ! musculoskeletal system disorder is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6716 {source="MONDO:mim2gene_medgen"} ! LTBP3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -247612,7 +246783,7 @@ xref: Orphanet:94122 {source="DOID:0060694", source="MONDO:equivalentTo", source xref: SCTID:717332007 {source="MONDO:equivalentTo"} xref: UMLS:C1832585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331319"} is_a: MONDO:0020043 {source="Orphanet:94122"} ! autosomal recessive congenital cerebellar ataxia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/779 {source="MONDO:mim2gene_medgen"} ! ATCAY +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/779 {source="OMIM:601238"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -247649,7 +246820,6 @@ is_a: MONDO:0017778 {source="MESH:C537264", source="Orphanet:313/btnt"} ! lamell intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14637 ! ABCA12 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14637 {source="MONDO:mim2gene_medgen"} ! ABCA12 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -247668,7 +246838,7 @@ xref: OMIM:601283 {source="MONDO:equivalentTo"} xref: UMLS:C1832544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321979"} is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease is_a: MONDO:0005148 {source="DC-OMIM:601283", source="MESH:C563359"} ! type 2 diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1477 {source="MONDO:mim2gene_medgen"} ! CAPN10 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1477 {source="OMIM:601283"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -247705,7 +246875,6 @@ is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0019056 ! neuromuscular disease intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10807 ! SGCD -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10807 {source="MONDO:mim2gene_medgen"} ! SGCD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8573/limb-girdle-muscular-dystrophy-type-2f" xsd:anyURI {source="GARD:0008573"} @@ -247755,7 +246924,6 @@ xref: UMLS:C1832476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019587 {source="DC-OMIM:601316", source="DOID:0110542", source="MONDO:Redundant", source="OMIM:601316"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3522 ! EYA4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3522 {source="MONDO:mim2gene_medgen"} ! EYA4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -247785,7 +246953,6 @@ xref: UMLS:C1832475 {source="MEDGEN:331297", source="MONDO:equivalentTo", source is_a: MONDO:0019587 {source="DC-OMIM:601317", source="DOID:0110543", source="MONDO:Redundant", source="OMIM:601317"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7606 ! MYO7A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7606 {source="MONDO:mim2gene_medgen"} ! MYO7A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -247863,7 +247030,6 @@ is_a: MONDO:0021060 {source="DOID:0111683", source="Orphanet:textdef", source="h is_a: MONDO:0021061 {source="https://orcid.org/0000-0001-6330-7526"} ! neurofibromatosis relationship: excluded_subClassOf MONDO:0019289 {source="Orphanet:638", source="https://orcid.org/0000-0001-5208-3432"} ! hyperpigmentation of the skin relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:638", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7765 {source="MONDO:mim2gene_medgen"} ! NF1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4374" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/372/neurofibromatosis-noonan-syndrome" xsd:anyURI {source="GARD:0000372"} @@ -247906,7 +247072,7 @@ xref: OMIM:601331 {source="MONDO:equivalentTo"} xref: UMLS:C3275898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477529"} is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19351 {source="MONDO:mim2gene_medgen"} ! BICC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19351 {source="OMIM:601331"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI [Term] @@ -247935,7 +247101,6 @@ xref: UMLS:C1832466 {source="MEDGEN:318633", source="MONDO:equivalentTo", source is_a: MONDO:0014720 ! autosomal dominant optic atrophy plus syndrome is_a: MONDO:0019792 {source="Orphanet:1171"} ! autosomal dominant cerebellar ataxia type I relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:601338", source="Orphanet:1171"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/801 {source="MONDO:mim2gene_medgen"} ! ATP1A3 [Term] id: MONDO:0011039 @@ -248256,7 +247421,6 @@ is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3051", source="h is_a: MONDO:0015159 {source="Orphanet:3051"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011053 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11098 {source="MONDO:mim2gene_medgen"} ! SMARCA2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -248426,7 +247590,6 @@ xref: UMLS:C1832425 {source="MEDGEN:371327", source="MONDO:equivalentTo", source is_a: MONDO:0019587 {source="DC-OMIM:601369", source="DOID:0110593", source="MONDO:Redundant", source="OMIM:601369"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2180 ! COCH -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2180 {source="MONDO:mim2gene_medgen"} ! COCH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -248628,8 +247791,8 @@ xref: UMLS:C1832399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015626 {source="DOID:0110191/inferred", source="MESH:C535420", source="MONDO:Redundant", source="OMIM:601382", source="Orphanet:99955/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018995 {source="DOID:0110191", source="MONDO:Redundant", source="Orphanet:99955"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7450 ! MTMR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7450 {source="MONDO:mim2gene_medgen"} ! MTMR2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7450 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7450 {source="OMIM:601382"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1253/charcot-marie-tooth-disease-type-4b1" xsd:anyURI {source="GARD:0001253"} [Term] @@ -248683,7 +247846,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0005147 ! type 1 diabetes mellitus relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:601388", source="DOID:0110751", source="MESH:C563326", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2505 {source="MONDO:mim2gene_medgen"} ! CTLA4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI [Term] @@ -248721,7 +247883,6 @@ xref: UMLS:C4551950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017813 {source="DC-OMIM:601390", source="DOID:0080585", source="MONDO:Redundant", source="OMIM:601390"} ! van Maldergem syndrome intersection_of: MONDO:0017813 ! van Maldergem syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13681 ! DCHS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13681 {source="MONDO:mim2gene_medgen"} ! DCHS1 [Term] id: MONDO:0011071 @@ -248794,6 +247955,7 @@ xref: Orphanet:99886 {source="OMIM:601410", source="MONDO:equivalentTo"} xref: SCTID:609579009 {source="MONDO:equivalentTo"} xref: UMLS:C1832386 {source="MEDGEN:371317", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020525 {source="DC-OMIM:601410"} ! transient neonatal diabetes mellitus +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18791 {source="OMIM:601410"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -248817,6 +247979,7 @@ xref: MESH:C563321 {source="MONDO:equivalentTo"} xref: OMIM:601412 {source="MONDO:equivalentTo", source="DOID:0110591"} xref: UMLS:C1832379 {source="MEDGEN:318614", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019587 {source="DC-OMIM:601412", source="DOID:0110591", source="OMIM:601412"} ! autosomal dominant nonsyndromic hearing loss +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6653 {source="OMIM:601412"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -248842,8 +248005,8 @@ xref: OMIM:601414 {source="MONDO:equivalentTo", source="DOID:0110356"} xref: UMLS:C1832378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371314"} is_a: MONDO:0019200 {source="DC-OMIM:601414", source="DOID:0110356", source="MESH:C563320", source="MONDO:Redundant", source="OMIM:601414"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17348 ! PRPF3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17348 {source="MONDO:mim2gene_medgen"} ! PRPF3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17348 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17348 {source="OMIM:601414"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10392/retinitis-pigmentosa-18" xsd:anyURI {source="GARD:0010392"} [Term] @@ -248910,7 +248073,6 @@ relationship: excluded_subClassOf MONDO:0016108 {source="Orphanet:98909", source relationship: excluded_subClassOf MONDO:0016112 {source="Orphanet:98909", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary inclusion-body myopathy relationship: excluded_subClassOf MONDO:0016187 {source="Orphanet:363543", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of desmin relationship: excluded_subClassOf MONDO:0016340 {source="Orphanet:98909", source="https://orcid.org/0000-0001-5208-3432"} ! familial restrictive cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2770 {source="MONDO:mim2gene_medgen"} ! DES property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4370" xsd:anyURI [Term] @@ -249137,8 +248299,8 @@ xref: UMLS:C1832334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015626 {source="DOID:0110186/inferred", source="MESH:C535716", source="MONDO:Redundant", source="OMIM:601455", source="Orphanet:99950/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018995 {source="DOID:0110186", source="MONDO:Redundant", source="Orphanet:99950"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7679 ! NDRG1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7679 {source="MONDO:mim2gene_medgen"} ! NDRG1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7679 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7679 {source="OMIM:601455"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3973/charcot-marie-tooth-disease-type-4d" xsd:anyURI {source="GARD:0003973"} [Term] @@ -249219,7 +248381,6 @@ is_a: MONDO:0018940 {source="DOID:0110663", source="MONDO:Redundant", source="OM is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1955 ! CHRNA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1955 {source="MONDO:mim2gene_medgen"} ! CHRNA1 [Term] id: MONDO:0011089 @@ -249316,7 +248477,6 @@ is_a: MONDO:0018993 {source="DOID:0110164", source="MONDO:Redundant", source="Or intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4162 ! GARS1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011091 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4162 {source="MONDO:mim2gene_medgen"} ! GARS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1251/charcot-marie-tooth-disease-type-2d" xsd:anyURI {source="GARD:0001251"} @@ -249374,7 +248534,7 @@ intersection_of: MONDO:0019249 ! mucopolysaccharidosis intersection_of: disease_has_basis_in_disruption_of GO:0004415 ! hyalurononglucosaminidase activity relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011093 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5320 {source="MONDO:mim2gene_medgen"} ! HYAL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5320 {source="OMIM:601492"} [Term] id: MONDO:0011094 @@ -249432,7 +248592,6 @@ xref: Orphanet:154 {source="OMIM:601494"} xref: Orphanet:54260 {source="OMIM:601494"} xref: UMLS:C1832243 {source="MEDGEN:316943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018901 {source="DC-OMIM:601494", source="OMIM:601494"} ! left ventricular noncompaction -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11949 {source="MONDO:mim2gene_medgen"} ! TNNT2 [Term] id: MONDO:0011096 @@ -249498,8 +248657,8 @@ xref: OMIM:601518 {source="MONDO:equivalentTo"} xref: UMLS:C4722327 {source="MEDGEN:1648436", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008315 {source="DC-OMIM:601518", source="MONDO:0011098/inferred", source="MONDO:Redundant"} ! prostate cancer intersection_of: MONDO:0700275 ! prostate cancer, hereditary -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10050 ! RNASEL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10050 {source="MONDO:mim2gene_medgen"} ! RNASEL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10050 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10050 {source="OMIM:601518"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -249534,7 +248693,6 @@ xref: UMLS:C1832215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0050682", source="MONDO:Redundant"} ! autosomal recessive disease relationship: has_characteristic HP:0000007 {source="Orphanet:69739"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5099 {source="MONDO:mim2gene_medgen"} ! HOXA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1377" xsd:anyURI [Term] @@ -249573,7 +248731,6 @@ xref: UMLS:C0282527 {source="MEDGEN:79470", source="MONDO:equivalentTo", source= is_a: MONDO:0100259 {source="DC-OMIM:601539", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX1 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0011101/inferred", source="MONDO:Redundant", source="OMIM:601539", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8850 {source="MONDO:mim2gene_medgen"} ! PEX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -249607,7 +248764,6 @@ xref: UMLS:C1832187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019587 {source="DC-OMIM:601543", source="DOID:0110544", source="MONDO:Redundant", source="OMIM:601543"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11720 ! TECTA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11720 {source="MONDO:mim2gene_medgen"} ! TECTA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -249642,7 +248798,6 @@ xref: UMLS:C2675750 {source="MEDGEN:436512", source="MONDO:equivalentTo", source is_a: MONDO:0019587 {source="DC-OMIM:601544", source="DOID:0110564", source="MONDO:Redundant", source="OMIM:601544"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 ! GJB2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 {source="MONDO:mim2gene_medgen"} ! GJB2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -249678,10 +248833,10 @@ xref: Orphanet:98994 {source="MONDO:relatedTo", source="OMIM:601547"} xref: UMLS:C1832175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321901"} is_a: MONDO:0005129 {source="DOID:0110269", source="MESH:C563294", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:601547"} ! cataract intersection_of: MONDO:0005129 ! cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2398 ! CRYBB2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2398 relationship: excluded_subClassOf MONDO:0011060 {source="Orphanet:91492/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset non-syndromic cataract relationship: excluded_subClassOf MONDO:0015300 {source="Orphanet:1377/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! cataract - microcornea syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2398 {source="MONDO:mim2gene_medgen"} ! CRYBB2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2398 {source="OMIM:601547"} [Term] id: MONDO:0011105 @@ -249726,7 +248881,7 @@ xref: Orphanet:412022 {source="OMIM:601552", source="MONDO:equivalentTo"} xref: UMLS:C1832167 {source="MEDGEN:330396", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001176 ! lens disorder is_a: MONDO:0005328 ! eye disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/757 {source="MONDO:mim2gene_medgen"} ! ASPH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/757 {source="OMIM:601552"} [Term] id: MONDO:0011107 @@ -249758,7 +248913,6 @@ xref: UMLS:C1832162 {source="MEDGEN:316921", source="MONDO:equivalentTo", source is_a: MONDO:0003037 {source="DOID:0110711", source="MESH:C537698"} ! hypotrichosis is_a: MONDO:0019287 {source="Orphanet:1573"} ! ectodermal dysplasia syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1762 {source="MONDO:mim2gene_medgen"} ! CDH3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -249849,8 +249003,8 @@ xref: UMLS:C1832099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003321 {source="MESH:C536707", source="MONDO:Redundant", source="OMIM:601583"} ! hereditary Wilms tumor is_a: MONDO:0019004 {source="DC-OMIM:601583"} ! kidney Wilms tumor intersection_of: MONDO:0003321 ! hereditary Wilms tumor -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21694 ! POU6F2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21694 {source="MONDO:mim2gene_medgen"} ! POU6F2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21694 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21694 {source="OMIM:601583"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -249889,7 +249043,6 @@ is_a: MONDO:0015626 {source="DOID:0110183/inferred", source="MESH:C535423", sour is_a: MONDO:0018995 {source="DOID:0110183", source="MONDO:Redundant", source="Orphanet:99949"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29427 ! SH3TC2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29427 {source="MONDO:mim2gene_medgen"} ! SH3TC2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9201/charcot-marie-tooth-disease-type-4c" xsd:anyURI {source="GARD:0009201"} [Term] @@ -249917,7 +249070,6 @@ xref: SCTID:403825008 {source="MONDO:equivalentTo"} xref: UMLS:C1275122 {source="MEDGEN:220890", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011512 {source="Orphanet:867"} ! Brooke-Spiegler syndrome relationship: has_characteristic HP:0000006 {source="Orphanet:867"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2584 {source="MONDO:mim2gene_medgen"} ! CYLD [Term] id: MONDO:0011115 @@ -250056,8 +249208,8 @@ is_a: MONDO:0000448 {source="DC-OMIM:601650", source="MESH:C566646", source="MON is_a: MONDO:0006295 {source="MONDO:Redundant"} ! malignant urinary system neoplasm is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma intersection_of: MONDO:0000448 ! paraganglioma -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26034 ! SDHAF2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26034 {source="MONDO:mim2gene_medgen"} ! SDHAF2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26034 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26034 {source="OMIM:601650"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10544/paragangliomas-2" xsd:anyURI {source="GARD:0010544"} [Term] @@ -250157,7 +249309,6 @@ is_a: MONDO:0002470 {source="DC-OMIM:601675", source="DOID:0111873", source="MON is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:601675"} ! trichothiodystrophy intersection_of: MONDO:0002470 ! photosensitive trichothiodystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3434 ! ERCC2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3434 {source="MONDO:mim2gene_medgen"} ! ERCC2 [Term] id: MONDO:0011126 @@ -250294,7 +249445,6 @@ xref: UMLS:C1866426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015974 {source="DOID:0060769", source="MESH:C536781"} ! severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011132 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12765 {source="MONDO:mim2gene_medgen"} ! FOXN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4358/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy" xsd:anyURI {source="GARD:0004358"} @@ -250352,7 +249502,6 @@ xref: UMLS:C0795915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015160 {source="Orphanet:1553"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015338 {source="Orphanet:1553"} ! syndromic craniosynostosis is_a: MONDO:0015469 {source="https://orcid.org/0000-0002-4142-7153"} ! craniosynostosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11119 {source="MONDO:mim2gene_medgen"} ! SMO property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5584/curry-jones-syndrome" xsd:anyURI {source="GARD:0005584"} @@ -250397,7 +249546,6 @@ xref: UMLS:C1866423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000009 {source="DC-OMIM:601709", source="DOID:0111050", source="MONDO:Redundant", source="OMIM:601709"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0020117 {source="Orphanet:220436"} ! alpha granule disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011136 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9052 {source="MONDO:mim2gene_medgen"} ! PLAU property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8345/quebec-platelet-disorder" xsd:anyURI {source="GARD:0008345"} [Term] @@ -250425,7 +249573,6 @@ is_a: MONDO:0019200 {source="DC-OMIM:601718", source="DOID:0110354", source="MES is_a: MONDO:0800406 {source="https://clinicalgenome.org/affiliation/40072/"} ! ABCA4-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34 ! ABCA4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34 {source="MONDO:mim2gene_medgen"} ! ABCA4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10398/retinitis-pigmentosa-19" xsd:anyURI {source="GARD:0010398"} @@ -250449,7 +249596,6 @@ xref: UMLS:C1866373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11851 ! TLR5 intersection_of: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11851 {source="MONDO:mim2gene_medgen"} ! TLR5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -250571,7 +249717,6 @@ is_a: MONDO:0100454 {source="https://clinicalgenome.org/affiliation/40072/"} ! G intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 ! GUCY2D relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 {source="MONDO:mim2gene_medgen"} ! GUCY2D [Term] id: MONDO:0011144 @@ -250615,7 +249760,6 @@ is_a: MONDO:0016295 {source="DOID:0110729", source="MONDO:DOID", source="MONDO:R is_a: MONDO:0019260 {source="MONDO:Redundant", source="Orphanet:228363", source="Orphanet:79262/btnt"} ! adult neuronal ceroid lipofuscinosis intersection_of: MONDO:0015674 ! late infantile neuronal ceroid lipofuscinosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2077 ! CLN6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2077 {source="MONDO:mim2gene_medgen"} ! CLN6 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1224/neuronal-ceroid-lipofuscinosis-6" xsd:anyURI {source="GARD:0001224"} [Term] @@ -250803,7 +249947,6 @@ xref: Orphanet:363665 {source="MONDO:equivalentTo", source="OMIM:601812"} xref: UMLS:C1866182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400936"} is_a: MONDO:0019303 {source="Orphanet:363665"} ! premature aging syndrome relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:363665", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8804 {source="MONDO:mim2gene_medgen"} ! PDGFRB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI [Term] @@ -250824,7 +249967,6 @@ xref: Orphanet:891 {source="OMIM:601813"} xref: UMLS:C1866176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356171"} is_a: MONDO:0019516 {source="DC-OMIM:601813", source="OMIM:601813"} ! exudative vitreoretinopathy is_a: MONDO:0700228 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! LRP5-related exudative vitreoretinopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 {source="MONDO:mim2gene_medgen"} ! LRP5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -250850,7 +249992,6 @@ xref: Orphanet:79351 {source="MONDO:equivalentTo", source="OMIM:601815"} xref: UMLS:C1866174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400935"} is_a: MONDO:0018491 {source="Orphanet:79351"} ! 3-phosphoglycerate dehydrogenase deficiency relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:79351", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8923 {source="MONDO:mim2gene_medgen"} ! PHGDH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -250887,7 +250028,6 @@ is_a: MONDO:0005803 {source="DC-OMIM:601820", source="MONDO:Redundant"} ! hyperi is_a: MONDO:0019010 ! congenital isolated hyperinsulinism intersection_of: MONDO:0005803 ! hyperinsulinemic hypoglycemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6257 ! KCNJ11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6257 {source="MONDO:mim2gene_medgen"} ! KCNJ11 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2" xsd:anyURI {source="GARD:0009927"} [Term] @@ -250930,6 +250070,7 @@ xref: MESH:C566617 {source="MONDO:equivalentTo"} xref: OMIM:601846 {source="MONDO:equivalentTo"} xref: UMLS:C1866139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355637"} is_a: MONDO:0003847 {source="MESH:C566617/inferred"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29393 {source="OMIM:601846"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -250965,7 +250106,6 @@ is_a: MONDO:0011559 ! benign recurrent intrahepatic cholestasis type 2 is_a: MONDO:0015762 {source="DOID:0070222", source="MONDO:Redundant", source="OMIM:601847", source="Orphanet:79304"} ! progressive familial intrahepatic cholestasis intersection_of: MONDO:0015762 ! progressive familial intrahepatic cholestasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/42 ! ABCB11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/42 {source="MONDO:mim2gene_medgen"} ! ABCB11 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1288/progressive-familial-intrahepatic-cholestasis-type-2" xsd:anyURI {source="GARD:0001288"} @@ -251055,7 +250195,6 @@ xref: UMLS:C1866095 {source="MEDGEN:400917", source="MONDO:equivalentTo", source is_a: MONDO:0019587 {source="DC-OMIM:601868", source="DOID:0110545", source="MONDO:Redundant", source="OMIM:601868"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 ! COL11A2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 {source="MONDO:mim2gene_medgen"} ! COL11A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -251090,8 +250229,8 @@ xref: OMIM:601869 {source="MONDO:equivalentTo", source="DOID:0110470"} xref: UMLS:C1866094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355626"} is_a: MONDO:0019588 {source="DC-OMIM:601869", source="DOID:0110470", source="MONDO:Redundant", source="OMIM:601869"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18183 ! GIPC3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18183 {source="MONDO:mim2gene_medgen"} ! GIPC3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18183 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18183 {source="OMIM:601869"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -251138,8 +250277,8 @@ xref: UMLS:C1866078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005129 {source="DOID:0110253", source="MESH:C566608", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:601885"} ! cataract is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4277 ! GJA3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4277 {source="MONDO:mim2gene_medgen"} ! GJA3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4277 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4277 {source="OMIM:601885"} [Term] id: MONDO:0011163 @@ -251167,7 +250306,6 @@ is_a: MONDO:0800188 {source="DC-OMIM:601887", source="MESH:C535698", source="MON intersection_of: MONDO:0800188 ! malignant hyperthermia, susceptibility to intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1397 ! CACNA1S intersection_of: predisposes_towards MONDO:0018493 ! malignant hyperthermia of anesthesia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1397 {source="MONDO:mim2gene_medgen"} ! CACNA1S property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3367/malignant-hyperthermia-susceptibility-type-5" xsd:anyURI {source="GARD:0003367"} @@ -251220,7 +250358,6 @@ is_a: MONDO:0007671 {source="MONDO:Redundant", source="OMIM:601894", source="Orp intersection_of: MONDO:0007671 ! fibronectin glomerulopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3778 ! FN1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011165 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3778 {source="MONDO:mim2gene_medgen"} ! FN1 [Term] id: MONDO:0011166 @@ -251299,7 +250436,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0005147 ! type 1 diabetes mellitus relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:601942", source="DOID:0110749", source="MESH:C566602", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6008 {source="MONDO:mim2gene_medgen"} ! IL2RA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI @@ -251329,7 +250465,6 @@ xref: UMLS:C1866029 {source="MEDGEN:356430", source="MONDO:equivalentTo", source is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0019268 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermal disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20330 {source="MONDO:mim2gene_medgen"} ! POMP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -251365,7 +250500,6 @@ is_a: MONDO:0015152 {source="DOID:0110281", source="MONDO:Redundant", source="OM is_a: MONDO:0016192 {source="Orphanet:34514"} ! qualitative or quantitative defects of telethonin intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11610 ! TCAP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11610 {source="MONDO:mim2gene_medgen"} ! TCAP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -251426,7 +250560,6 @@ is_a: MONDO:0002249 {source="DC-OMIM:601977"} ! thrombocytosis disease is_a: MONDO:0019111 {source="OMIM:601977", source="OMIMPS:187950"} ! familial thrombocytosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011173 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0005029 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! essential thrombocythemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7217 {source="MONDO:mim2gene_medgen"} ! MPL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/230" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -251497,8 +250630,8 @@ xref: UMLS:C1865974 {source="MEDGEN:355596", source="MONDO:equivalentTo", source is_a: MONDO:0017626 {source="Orphanet:30924"} ! familial primary hypomagnesemia with normocalcuria is_a: MONDO:0018100 {source="DOID:0060883", source="MONDO:Redundant", source="OMIM:602014", source="Orphanet:30924/inferred"} ! familial primary hypomagnesemia intersection_of: MONDO:0018100 ! familial primary hypomagnesemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17995 ! TRPM6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17995 {source="MONDO:mim2gene_medgen"} ! TRPM6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17995 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17995 {source="OMIM:602014"} [Term] id: MONDO:0011177 @@ -251522,8 +250655,8 @@ xref: Orphanet:69084 {source="OMIM:602032"} is_a: MONDO:0019071 {source="DOID:0111658", source="MONDO:Redundant", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia is_a: MONDO:0019287 {source="MESH:C566592", source="MONDO:Redundant", source="OMIM:602032"} ! ectodermal dysplasia syndrome intersection_of: MONDO:0019071 ! pure hair and nail ectodermal dysplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6462 ! KRT85 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6462 {source="MONDO:mim2gene_medgen"} ! KRT85 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6462 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6462 {source="OMIM:602032"} [Term] id: MONDO:0011178 @@ -251560,7 +250693,6 @@ is_a: MONDO:0015427 {source="Orphanet:31709"} ! paroxysmal dyskinesia is_a: MONDO:0015642 {source="Orphanet:31709"} ! benign partial infantile seizures is_a: MONDO:0100556 {source="PMID:33746883", source="https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/#references"} ! PRRT2-associated paroxysmal movement disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011178 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30500 {source="OMIM:602066"} ! PRRT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6461" xsd:string [Term] @@ -251606,9 +250738,9 @@ xref: Orphanet:45358 {source="OMIM:602078"} xref: UMLS:C1865915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356119"} is_a: MONDO:0007614 {source="DOID:0081016", source="MONDO:Redundant", source="OMIM:602078", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles intersection_of: MONDO:0007614 ! congenital fibrosis of extraocular muscles -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/691 ! PHOX2A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/691 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/691 {source="MONDO:mim2gene_medgen"} ! PHOX2A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/691 {source="OMIM:602078"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -251691,7 +250823,7 @@ xref: Orphanet:209908 {source="MONDO:equivalentTo", source="OMIM:602081"} xref: SCTID:229703009 {source="MONDO:equivalentTo"} xref: UMLS:C0750927 {source="MONDO:equivalentTo", source="MEDGEN:152917", source="MONDO:MEDGEN"} is_a: MONDO:0016226 {source="Orphanet:209908"} ! specific language disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13875 {source="MONDO:mim2gene_medgen"} ! FOXP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13875 {source="OMIM:602081"} [Term] id: MONDO:0011185 @@ -251736,7 +250868,6 @@ xref: SCTID:417065002 {source="DOID:0060455", source="MONDO:equivalentTo"} xref: UMLS:C1562894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:287070"} is_a: MONDO:0000764 {source="DOID:0060455"} ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0020212 {source="Orphanet:98960"} ! superficial corneal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 {source="MONDO:mim2gene_medgen"} ! TGFBI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9275/corneal-dystrophy-thiel-behnke-type" xsd:anyURI {source="GARD:0009275"} [Term] @@ -251762,7 +250893,6 @@ xref: UMLS:C1865885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0010168 {source="DOID:0110832", source="Orphanet:231169"} ! Usher syndrome type 1 is_a: MONDO:0019501 {source="DOID:0110832/inferred", source="MONDO:Redundant", source="OMIM:602083"} ! Usher syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:602083"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14674 {source="MONDO:mim2gene_medgen"} ! PCDH15 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10043/usher-syndrome-type-1f" xsd:anyURI {source="GARD:0010043"} [Term] @@ -251855,10 +250985,10 @@ xref: Orphanet:93591 {source="MONDO:equivalentTo"} xref: UMLS:C1865872 {source="MEDGEN:355574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019005 {source="DC-OMIM:602088", source="DOID:0111113", source="MONDO:Redundant", source="OMIM:602088", source="Orphanet:93591"} ! nephronophthisis intersection_of: MONDO:0019005 ! nephronophthisis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17870 ! INVS +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17870 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011190 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:602088"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17870 {source="MONDO:mim2gene_medgen"} ! INVS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17870 {source="OMIM:602088"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -251915,7 +251045,6 @@ xref: UMLS:C1865870 {source="MEDGEN:356389", source="MONDO:equivalentTo", source is_a: MONDO:0019588 {source="DC-OMIM:602092", source="DOID:0110473", source="MONDO:Redundant", source="OMIM:602092"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12597 ! USH1C -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12597 {source="MONDO:mim2gene_medgen"} ! USH1C property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -251948,7 +251077,6 @@ is_a: MONDO:0003847 {source="DOID:0080314"} ! hereditary disease is_a: MONDO:0015993 {source="DOID:0080314", source="OMIM:602093"} ! cone-rod dystrophy intersection_of: MONDO:0000455 ! cone dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4678 ! GUCA1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4678 {source="MONDO:mim2gene_medgen"} ! GUCA1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -252023,7 +251151,6 @@ is_a: MONDO:0005144 {source="DC-OMIM:602099", source="DOID:0060197", source="MES is_a: MONDO:0017593 {source="Orphanet:300605/btnt", source="https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis"} ! juvenile amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11226 ! SPG11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11226 {source="MONDO:mim2gene_medgen"} ! SPG11 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10503/amyotrophic-lateral-sclerosis-type-5" xsd:anyURI {source="GARD:0010503"} [Term] @@ -252083,7 +251210,6 @@ relationship: disease_has_feature HP:0002651 ! Spondyloepimetaphyseal dysplasia relationship: disease_has_feature HP:0002970 ! Genu varum relationship: disease_has_feature HP:0004566 ! Pear-shaped vertebrae relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:602111", source="DOID:0080030", source="Orphanet:93356", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7159 {source="MONDO:mim2gene_medgen"} ! MMP13 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10618/spondyloepimetaphyseal-dysplasia-missouri-type" xsd:anyURI {source="GARD:0010618"} @@ -252330,7 +251456,6 @@ is_a: MONDO:0016763 {source="DC-OMIM:602271", source="DOID:0112299", source="OMI is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1260 ! CFAP410 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1260 {source="MONDO:mim2gene_medgen"} ! CFAP410 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia" xsd:anyURI {source="GARD:0008720"} @@ -252372,7 +251497,6 @@ is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:487825", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015159 {source="Orphanet:487825"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019296 {source="Orphanet:487825"} ! subcutaneous tissue disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29529 {source="MONDO:mim2gene_medgen"} ! TBL1XR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -252411,7 +251535,6 @@ is_a: MONDO:0015762 {source="DOID:0070223", source="MONDO:Redundant", source="OM intersection_of: MONDO:0015762 ! progressive familial intrahepatic cholestasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/45 ! ABCB4 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011214 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/45 {source="MONDO:mim2gene_medgen"} ! ABCB4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1289/progressive-familial-intrahepatic-cholestasis-type-3" xsd:anyURI {source="GARD:0001289"} @@ -252443,7 +251566,6 @@ xref: Orphanet:2763 {source="MONDO:equivalentTo", source="OMIM:602361"} xref: SCTID:722109008 {source="MONDO:equivalentTo"} xref: UMLS:C1865639 {source="MEDGEN:356331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24725 {source="MONDO:mim2gene_medgen"} ! FAM111A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -252469,8 +251591,8 @@ xref: UMLS:C1865614 {source="MEDGEN:356321", source="MONDO:equivalentTo", source is_a: MONDO:0006507 {source="DOID:0111027/inferred", source="MONDO:Redundant", source="OMIM:602390"} ! hereditary hemochromatosis is_a: MONDO:0019257 {source="DOID:0111027", source="MONDO:Redundant"} ! hemochromatosis type 2 intersection_of: MONDO:0019257 ! hemochromatosis type 2 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4887 ! HJV -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4887 {source="MONDO:mim2gene_medgen"} ! HJV +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4887 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4887 {source="OMIM:602390"} [Term] id: MONDO:0011217 @@ -252496,7 +251618,7 @@ xref: UMLS:C1865596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019240 {source="Orphanet:35107"} ! sterol biosynthesis disorder is_a: MONDO:0019702 {source="Orphanet:35107", source="PMID:31633310"} ! neonatal osteosclerotic dysplasia relationship: disease_has_basis_in_disruption_of GO:0006695 ! cholesterol biosynthetic process -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2859 {source="MONDO:mim2gene_medgen"} ! DHCR24 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2859 {source="OMIM:602398"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10283/desmosterolosis" xsd:anyURI {source="GARD:0010283"} @@ -252535,6 +251657,7 @@ xref: UMLS:C1835851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017265 {source="DC-OMIM:602400", source="DOID:0060720", source="OMIM:602400"} ! autosomal recessive congenital ichthyosis relationship: excluded_subClassOf MONDO:0017271 {source="Orphanet:91132", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal ichthyosis syndrome with prominent hair abnormalities relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11344 {source="OMIM:602400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -252637,7 +251760,6 @@ is_a: MONDO:0005144 {source="DC-OMIM:602433", source="DOID:0060196", source="MES is_a: MONDO:0024237 {source="MONDO:Entailed", source="Orphanet:357043"} ! inherited neurodegenerative disorder intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/445 ! SETX -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/445 {source="MONDO:mim2gene_medgen"} ! SETX property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10502/amyotrophic-lateral-sclerosis-type-4" xsd:anyURI {source="GARD:0010502"} [Term] @@ -252719,7 +251841,6 @@ intersection_of: MONDO:0015974 ! severe combined immunodeficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17642 ! DCLRE1C relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011225 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0006281 {source="https://orcid.org/0000-0002-6601-2165"} ! DNA repair -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17642 {source="MONDO:mim2gene_medgen"} ! DCLRE1C property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9987/severe-combined-immunodeficiency-with-sensitivity-to-ionizing-radiation" xsd:anyURI {source="GARD:0009987"} [Term] @@ -252746,8 +251867,8 @@ xref: OMIM:602459 {source="DOID:0110546", source="MONDO:equivalentTo"} xref: UMLS:C1865366 {source="MEDGEN:355451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019587 {source="DC-OMIM:602459", source="DOID:0110546", source="MONDO:Redundant", source="OMIM:602459"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9220 ! POU4F3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9220 {source="MONDO:mim2gene_medgen"} ! POU4F3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9220 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9220 {source="OMIM:602459"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -252777,7 +251898,7 @@ is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal is_a: MONDO:0015161 {source="Orphanet:397623"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0024623 {source="MONDO:0019936-obsoleted"} ! otorhinolaryngologic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4612 {source="MONDO:mim2gene_medgen"} ! GSC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4612 {source="OMIM:602471"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -252820,7 +251941,7 @@ xref: SCTID:723307008 {source="MONDO:equivalentTo"} xref: UMLS:C1865349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355966"} is_a: MONDO:0044970 {source="PMID:32923369", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23287 {source="MONDO:mim2gene_medgen"} ! ETHE1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23287 {source="OMIM:602473"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy" xsd:anyURI {source="GARD:0002198"} @@ -252890,7 +252011,6 @@ xref: UMLS:C1865322 {source="MEDGEN:355962", source="MONDO:equivalentTo", source is_a: MONDO:0000700 {source="DOID:0111182", source="MONDO:Redundant", source="OMIM:602481", source="Orphanet:569/btnt"} ! familial hemiplegic migraine intersection_of: MONDO:0000700 ! familial hemiplegic migraine intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/800 ! ATP1A2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/800 {source="MONDO:mim2gene_medgen"} ! ATP1A2 [Term] id: MONDO:0011233 @@ -252930,7 +252050,6 @@ is_a: MONDO:0019187 {source="DC-OMIM:602482", source="DOID:0110122", source="MON is_a: MONDO:0100235 {source="https://clinicalgenome.org/affiliation/40077/"} ! FOXC1-related anterior segment dysgenesis intersection_of: MONDO:0019187 ! Axenfeld-Rieger syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3800 ! FOXC1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3800 {source="MONDO:mim2gene_medgen"} ! FOXC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5789" xsd:anyURI [Term] @@ -252954,8 +252073,8 @@ xref: Orphanet:137888 {source="OMIM:602483"} xref: UMLS:C4551996 {source="MEDGEN:1639644", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000107 {source="DC-OMIM:602483", source="MONDO:Redundant", source="OMIM:602483"} ! auriculocondylar syndrome intersection_of: MONDO:0000107 ! auriculocondylar syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4387 ! GNAI3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4387 {source="MONDO:mim2gene_medgen"} ! GNAI3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4387 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4387 {source="OMIM:602483"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -253015,7 +252134,6 @@ xref: UMLS:C1865290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005803 {source="DC-OMIM:602485"} ! hyperinsulinemic hypoglycemia is_a: MONDO:0015624 {source="Orphanet:79299"} ! diazoxide-sensitive diffuse hyperinsulinism is_a: MONDO:0017688 {source="Orphanet:79299", source="PMID:33340416"} ! disorder of glycolysis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4195 {source="MONDO:mim2gene_medgen"} ! GCK property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9930/hyperinsulinemic-hypoglycemia-familial-3" xsd:anyURI {source="GARD:0009930"} @@ -253035,9 +252153,9 @@ xref: MESH:C566535 {source="MONDO:equivalentTo"} xref: OMIM:602491 {source="MONDO:equivalentTo"} xref: UMLS:C1865289 {source="MEDGEN:355434", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12593 ! USF1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12593 intersection_of: predisposes_towards MONDO:0001336 ! familial hyperlipidemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12593 {source="MONDO:mim2gene_medgen"} ! USF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12593 {source="OMIM:602491"} relationship: predisposes_towards MONDO:0001336 {source="DC-OMIM:602491", source="MESH:C566535", source="MONDO:Redundant"} ! familial hyperlipidemia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -253126,7 +252244,6 @@ relationship: disease_has_feature MONDO:0016231 ! capillary malformation relationship: excluded_subClassOf MONDO:0018719 {source="Orphanet:60040", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete obsolete rare capillary malformation with associated anomalies relationship: excluded_subClassOf MONDO:0019293 {source="MESH:C536142", source="Orphanet:60040", source="https://orcid.org/0000-0001-5208-3432"} ! skin vascular disease relationship: excluded_subClassOf MONDO:0019716 {source="Orphanet:60040", source="https://orcid.org/0000-0001-5208-3432"} ! overgrowth syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8975 {source="MONDO:mim2gene_medgen"} ! PIK3CA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5210" xsd:anyURI @@ -253175,7 +252292,6 @@ is_a: MONDO:0019524 {source="Orphanet:89938", source="https://orcid.org/0000-000 intersection_of: MONDO:0015231 ! Bartter syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16512 ! BSND relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011242 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16512 {source="MONDO:mim2gene_medgen"} ! BSND [Term] id: MONDO:0011243 @@ -253204,7 +252320,7 @@ xref: SCTID:717824007 {source="MONDO:equivalentTo"} xref: UMLS:C1865267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355427"} is_a: MONDO:0015161 {source="Orphanet:79094"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30935 {source="MONDO:mim2gene_medgen"} ! YY1AP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30935 {source="OMIM:602531"} [Term] id: MONDO:0011244 @@ -253238,7 +252354,6 @@ is_a: MONDO:0015160 {source="Orphanet:561"} ! multiple congenital anomalies/dysm is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia is_a: MONDO:0019716 {source="Orphanet:561"} ! overgrowth syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011244 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7788 {source="MONDO:mim2gene_medgen"} ! NFIX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6985/marshall-smith-syndrome" xsd:anyURI {source="GARD:0006985"} @@ -253259,7 +252374,6 @@ xref: OMIM:602540 {source="MONDO:equivalentTo"} xref: Orphanet:477 {source="OMIM:602540"} xref: UMLS:C1865234 {source="MEDGEN:355410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018781 {source="Orphanet:477/btnt"} ! KID syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 {source="MONDO:mim2gene_medgen"} ! GJB2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -253292,7 +252406,7 @@ xref: UMLS:C1865233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0019950 {source="DOID:0110632", source="Orphanet:280671"} ! congenital muscular dystrophy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1938 {source="MONDO:mim2gene_medgen"} ! CHKB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1938 {source="OMIM:602541"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10317/muscular-dystrophy-congenital-megaconial-type" xsd:anyURI {source="GARD:0010317"} @@ -253406,6 +252520,7 @@ xref: SCTID:719201004 {source="MONDO:equivalentTo"} xref: UMLS:C1865185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400703"} is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:602557", source="Orphanet:93352", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16110 {source="OMIM:602557"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4980/spondyloepimetaphyseal-dysplasia-shohat-type" xsd:anyURI {source="GARD:0004980"} @@ -253530,7 +252645,7 @@ is_a: MONDO:0015286 {source="MESH:C535740", source="MONDO:0011257/inferred", sou is_a: MONDO:0017740 {source="Orphanet:79319"} ! disorder of protein N-glycosylation is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7216 {source="MONDO:mim2gene_medgen"} ! MPI +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7216 {source="OMIM:602579"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -253555,7 +252670,6 @@ xref: UMLS:C1865143 {source="MEDGEN:351307", source="MONDO:equivalentTo", source is_a: MONDO:0018878 {source="DC-OMIM:602588", source="MONDO:Redundant", source="OMIM:602588"} ! branchiootic syndrome intersection_of: MONDO:0018878 ! branchiootic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3519 ! EYA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3519 {source="MONDO:mim2gene_medgen"} ! EYA1 [Term] id: MONDO:0011259 @@ -253697,8 +252811,8 @@ xref: UMLS:C1414216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000476 {source="DOID:0090039", source="MONDO:Redundant", source="Orphanet:98806"} ! generalized dystonia is_a: MONDO:0044807 {source="DOID:0090039/inferred", source="MESH:C538003/inferred", source="MONDO:Redundant", source="OMIM:602629"} ! inherited dystonia intersection_of: MONDO:0000476 ! generalized dystonia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20856 ! THAP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20856 {source="MONDO:mim2gene_medgen"} ! THAP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20856 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20856 {source="OMIM:602629"} [Term] id: MONDO:0011265 @@ -253762,8 +252876,8 @@ xref: SCTID:41574007 {source="MONDO:relatedTo", source="DOID:0050759"} xref: UMLS:C2931689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419137"} is_a: MONDO:0016107 {source="DC-OMIM:602668", source="DOID:0050759", source="MONDO:Redundant", source="NCIT:C84680", source="OMIM:602668", source="Orphanet:606"} ! myotonic dystrophy intersection_of: MONDO:0016107 ! myotonic dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13164 ! CNBP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13164 {source="MONDO:mim2gene_medgen"} ! CNBP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13164 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13164 {source="OMIM:602668"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2" xsd:anyURI {source="GARD:0009728"} [Term] @@ -253807,7 +252921,7 @@ xref: Orphanet:402041 {source="OMIM:602722"} xref: UMLS:C5399980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1732975"} is_a: MONDO:0001909 {source="DC-OMIM:602722"} ! renal tubular acidosis is_a: MONDO:0018440 {source="Orphanet:402041/btnt"} ! autosomal recessive distal renal tubular acidosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/866 {source="MONDO:mim2gene_medgen"} ! ATP6V0A4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/866 {source="OMIM:602722"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -253828,7 +252942,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005083 {source="DC-OMIM:602723", source="DOID:0080475", source="MONDO:Redundant", source="OMIM:602723"} ! psoriasis intersection_of: MONDO:0005083 ! psoriasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16446 ! CARD14 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16446 {source="MONDO:mim2gene_medgen"} ! CARD14 [Term] id: MONDO:0011270 @@ -253902,8 +253015,8 @@ is_a: MONDO:0019951 {source="MONDO:Redundant"} ! rigid spine syndrome is_a: MONDO:0019952 {source="OMIM:602771"} ! congenital myopathy is_a: MONDO:0020121 {source="DOID:0110633/inferred", source="MONDO:Redundant", source="NCIT:C126691"} ! muscular dystrophy intersection_of: MONDO:0019951 ! rigid spine syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15999 ! SELENON -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15999 {source="MONDO:mim2gene_medgen"} ! SELENON +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15999 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15999 {source="OMIM:602771"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -253929,9 +253042,9 @@ xref: UMLS:C1864446 {source="MEDGEN:350427", source="MONDO:equivalentTo", source is_a: MONDO:0019200 {source="DC-OMIM:602772", source="DOID:0110384", source="MESH:C566425", source="MONDO:Redundant", source="OMIM:602772"} ! retinitis pigmentosa is_a: MONDO:0800391 {source="https://clinicalgenome.org/affiliation/40072/"} ! EYS-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21555 ! EYS +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21555 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21555 {source="MONDO:mim2gene_medgen"} ! EYS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21555 {source="OMIM:602772"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10384/retinitis-pigmentosa-25" xsd:anyURI {source="GARD:0010384"} @@ -253976,7 +253089,7 @@ is_a: MONDO:0006412 {source="MESH:C535391"} ! sinus histiocytosis with massive l is_a: MONDO:0019289 {source="Orphanet:168569"} ! hyperpigmentation of the skin relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:Redundant", source="Orphanet:168569", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus relationship: excluded_subClassOf MONDO:0005147 {source="Orphanet:168569", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23096 {source="MONDO:mim2gene_medgen"} ! SLC29A3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23096 {source="OMIM:602782"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/581/asrar-facharzt-haque-syndrome" xsd:anyURI {source="GARD:0000581"} @@ -254012,7 +253125,6 @@ is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84904", source="htt is_a: MONDO:0015338 {source="Orphanet:53271", source="PMID:31633310"} ! syndromic craniosynostosis is_a: MONDO:0015469 {source="https://orcid.org/0000-0002-4142-7153"} ! craniosynostosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011274 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7097/muenke-syndrome" xsd:anyURI {source="GARD:0007097"} @@ -254047,7 +253159,6 @@ is_a: MONDO:0019696 {source="DOID:0080050", source="OMIM:602875", source="Orphan intersection_of: MONDO:0019696 ! acromesomelic dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7944 ! NPR2 relationship: disease_has_feature HP:0003510 ! Severe short stature -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7944 {source="MONDO:mim2gene_medgen"} ! NPR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type" xsd:anyURI {source="GARD:0000507"} @@ -254116,7 +253227,6 @@ xref: MEDGEN:350380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:603013 {source="MONDO:equivalentTo", source="DOID:0070082"} xref: UMLS:C1864275 {source="MEDGEN:350380", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100182 {source="DC-OMIM:603013", source="DOID:0070082"} ! schizophrenia, susceptibility to -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7997 {source="MONDO:mim2gene_medgen"} ! NRG1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -254156,8 +253266,8 @@ xref: Orphanet:98915 {source="OMIM:603034"} xref: UMLS:C1864233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400481"} is_a: MONDO:0018940 {source="DOID:0110667", source="MESH:C566415", source="MONDO:Redundant", source="NCIT:C129304", source="OMIM:603034"} ! congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2226 ! COLQ -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2226 {source="MONDO:mim2gene_medgen"} ! COLQ +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2226 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2226 {source="OMIM:603034"} [Term] id: MONDO:0011282 @@ -254195,6 +253305,7 @@ xref: OMIM:603041 {source="MONDO:equivalentTo", source="DOID:0080119"} xref: Orphanet:298 {source="MONDO:relatedTo", source="OMIM:603041"} xref: UMLS:C4551995 {source="MEDGEN:1631838", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018158 {source="DC-OMIM:603041", source="DOID:0080119", source="OMIM:603041"} ! mitochondrial DNA depletion syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3148 {source="OMIM:603041"} [Term] id: MONDO:0011284 @@ -254243,6 +253354,7 @@ xref: OMIM:603075 {source="MONDO:equivalentTo", source="DOID:0110014"} xref: UMLS:C1864205 {source="MEDGEN:400475", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:603075", source="DOID:0110014", source="OMIM:603075"} ! age-related macular degeneration +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19194 {source="OMIM:603075"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -254374,10 +253486,10 @@ is_a: MONDO:0005500 {source="DC-OMIM:603147", source="DOID:0080555", source="OMI is_a: MONDO:0015286 {source="MESH:C535741", source="MONDO:0011291/inferred", source="MONDO:Redundant", source="NCIT:C126869", source="OMIM:603147", source="Orphanet:79320/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79320"} ! disorder of protein N-glycosylation intersection_of: MONDO:0015286 ! congenital disorder of glycosylation -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23157 ! ALG6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23157 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011291 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23157 {source="MONDO:mim2gene_medgen"} ! ALG6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23157 {source="OMIM:603147"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -254460,7 +253572,6 @@ is_a: MONDO:0018921 {source="DC-OMIM:603194", source="DOID:0070116", source="MON is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism intersection_of: MONDO:0018921 ! Meckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25018 ! TMEM216 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25018 {source="MONDO:mim2gene_medgen"} ! TMEM216 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8743/meckel-syndrome-type-2" xsd:anyURI {source="GARD:0008743"} @@ -254535,7 +253646,6 @@ is_a: MONDO:0005429 {source="DOID:0090103", source="MONDO:Redundant", source="MO is_a: MONDO:0024237 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited neurodegenerative disorder relationship: excluded_subClassOf MONDO:0000167 {source="DC-OMIM:603218", source="https://orcid.org/0000-0001-5208-3432"} ! Huntington disease and related disorders relationship: excluded_subClassOf MONDO:0005395 {source="https://orcid.org/0000-0001-5208-3432"} ! movement disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9449 {source="MONDO:mim2gene_medgen"} ! PRNP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6671" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -254632,8 +253742,8 @@ xref: UMLS:C4551527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005363 {source="DC-OMIM:603278", source="DOID:0111128", source="MESH:C538457", source="MONDO:Redundant", source="OMIM:603278"} ! inherited focal segmental glomerulosclerosis is_a: MONDO:0019006 {source="Orphanet:93213"} ! familial idiopathic steroid-resistant nephrotic syndrome intersection_of: MONDO:0005363 ! inherited focal segmental glomerulosclerosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/166 ! ACTN4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/166 {source="MONDO:mim2gene_medgen"} ! ACTN4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/166 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/166 {source="OMIM:603278"} [Term] id: MONDO:0011304 @@ -254660,8 +253770,8 @@ xref: Orphanet:221061 {source="DOID:0060670", source="OMIM:603284"} xref: UMLS:C1864041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400438"} is_a: MONDO:0031037 {source="MONDO:Redundant", source="OMIM:603284", source="Orphanet:221061/btnt"} ! famililal cerebral cavernous malformations intersection_of: MONDO:0031037 ! famililal cerebral cavernous malformations -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21708 ! CCM2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21708 {source="MONDO:mim2gene_medgen"} ! CCM2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21708 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21708 {source="OMIM:603284"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -254689,8 +253799,8 @@ xref: Orphanet:221061 {source="DOID:0060671", source="OMIM:603285"} xref: UMLS:C1864040 {source="MEDGEN:355121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0031037 {source="MONDO:Redundant", source="OMIM:603285", source="Orphanet:221061/btnt"} ! famililal cerebral cavernous malformations intersection_of: MONDO:0031037 ! famililal cerebral cavernous malformations -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8761 ! PDCD10 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8761 {source="MONDO:mim2gene_medgen"} ! PDCD10 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8761 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8761 {source="OMIM:603285"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -254748,7 +253858,6 @@ xref: Orphanet:53693 {source="GARD:0000001", source="OMIM:603358", source="MONDO xref: SCTID:703388005 {source="MONDO:equivalentTo"} xref: UMLS:C1864002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400428"} is_a: MONDO:0044970 {source="Orphanet:53693"} ! mitochondrial disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1020 {source="MONDO:mim2gene_medgen"} ! BCS1L [Term] id: MONDO:0011309 @@ -254774,7 +253883,6 @@ xref: SCTID:703309000 {source="MONDO:equivalentTo"} xref: UMLS:C1863959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355106"} is_a: MONDO:0004425 {source="DOID:0081102", source="Orphanet:99819"} ! hyperthyroidism is_a: MONDO:0024575 {source="Orphanet:99819"} ! pregnancy disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12373 {source="MONDO:mim2gene_medgen"} ! TSHR [Term] id: MONDO:0011310 @@ -254796,6 +253904,7 @@ synonym: "GLC1F" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603383] xref: MESH:C566383 {source="MONDO:obsoleteEquivalent"} xref: OMIM:603383 {source="MONDO:obsoleteEquivalent"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011311 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17185 {source="OMIM:603383"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticCarrier"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4936" xsd:anyURI is_obsolete: true @@ -254846,9 +253955,9 @@ xref: UMLS:C4012727 {source="MEDGEN:861164", source="MONDO:equivalentTo", source is_a: MONDO:0019375 {source="DC-OMIM:603387", source="MONDO:Redundant", source="OMIM:603387"} ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is_a: MONDO:1040004 {source="https://clinicalgenome.org/affiliation/50020/"} ! PIK3R2-related overgrowth spectrum intersection_of: MONDO:0019375 ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8980 ! PIK3R2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8980 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql {source="https://orcid.org/0000-0002-0587-4693"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8980 {source="MONDO:mim2gene_medgen"} ! PIK3R2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8980 {source="OMIM:603387"} [Term] id: MONDO:0011314 @@ -254987,7 +254096,6 @@ xref: SCTID:720511000 {source="MONDO:equivalentTo"} xref: UMLS:C1863878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355084"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011323 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29090 {source="MONDO:mim2gene_medgen"} ! SMCHD1 [Term] id: MONDO:0011324 @@ -255019,7 +254127,7 @@ xref: OMIM:603467 {source="MONDO:equivalentTo", source="DOID:0111088"} xref: UMLS:C3469526 {source="MEDGEN:854016", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019391 {source="DC-OMIM:603467", source="DOID:0111088", source="EFO:0009045", source="NCIT:C125707", source="OMIM:603467"} ! Fanconi anemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011325 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3587 {source="MONDO:mim2gene_medgen"} ! FANCF +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3587 {source="OMIM:603467"} [Term] id: MONDO:0011326 @@ -255042,7 +254150,6 @@ xref: NANDO:1200980 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:603471 {source="MONDO:equivalentTo", source="GARD:0010215"} xref: Orphanet:247585 {source="GARD:0010215", source="OMIM:603471"} is_a: MONDO:0016603 ! citrullinemia type II -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10983 {source="MONDO:mim2gene_medgen"} ! SLC25A13 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10215/adult-onset-citrullinemia-type-ii" xsd:anyURI {source="GARD:0010215"} @@ -255114,7 +254221,7 @@ xref: Orphanet:98761 {source="MONDO:equivalentTo", source="OMIM:603516"} xref: SCTID:715754007 {source="MONDO:equivalentTo"} xref: UMLS:C1963674 {source="MEDGEN:369786", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019794 {source="Orphanet:98761"} ! autosomal dominant cerebellar ataxia type IV -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10549 {source="MONDO:mim2gene_medgen"} ! ATXN10 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10549 {source="OMIM:603516"} [Term] id: MONDO:0011331 @@ -255190,7 +254297,6 @@ is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="htt is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019287 {source="https://orcid.org/0000-0002-5002-8648"} ! ectodermal dysplasia syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 {source="MONDO:mim2gene_medgen"} ! TP63 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -255231,7 +254337,7 @@ xref: SCTID:766820007 {source="MONDO:equivalentTo"} xref: UMLS:C1863732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350960"} is_a: MONDO:0000426 {source="DOID:0112199"} ! autosomal dominant disease is_a: MONDO:0019675 {source="DC-OMIM:603546", source="DOID:0112199", source="OMIM:603546"} ! spondyloepimetaphyseal dysplasia with joint laxity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6391 {source="MONDO:mim2gene_medgen"} ! KIF22 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6391 {source="OMIM:603546"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9866/spondyloepimetaphyseal-dysplasia-with-multiple-dislocations" xsd:anyURI {source="GARD:0009866"} @@ -255264,9 +254370,9 @@ xref: Orphanet:540 {source="OMIM:603552", source="MONDO:directSiblingOf"} xref: UMLS:C1863728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350245"} is_a: MONDO:0015541 {source="MONDO:Redundant", source="OMIM:603552", source="https://orcid.org/0000-0002-6601-2165"} ! hereditary hemophagocytic lymphohistiocytosis intersection_of: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11429 ! STX11 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11429 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011336 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11429 {source="MONDO:mim2gene_medgen"} ! STX11 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11429 {source="OMIM:603552"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9929/hemophagocytic-lymphohistiocytosis-familial-4" xsd:anyURI {source="GARD:0009929"} [Term] @@ -255299,7 +254405,6 @@ is_a: MONDO:0015541 {source="MONDO:Redundant", source="OMIM:603553", source="htt intersection_of: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9360 ! PRF1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011337 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9360 {source="MONDO:mim2gene_medgen"} ! PRF1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9922/hemophagocytic-lymphohistiocytosis-familial-2" xsd:anyURI {source="GARD:0009922"} [Term] @@ -255368,7 +254473,6 @@ is_a: MONDO:0019064 {source="DOID:0110823", source="MESH:C580458", source="MONDO intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28984 ! WASHC5 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011339 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28984 {source="MONDO:mim2gene_medgen"} ! WASHC5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI [Term] @@ -255445,7 +254549,7 @@ is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenita is_a: MONDO:0017749 {source="Orphanet:238459"} ! disorder of multiple glycosylation relationship: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11021 {source="MONDO:mim2gene_medgen"} ! SLC35A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11021 {source="OMIM:603585"} [Term] id: MONDO:0011343 @@ -255510,7 +254614,7 @@ xref: UMLS:C1863688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018106 {source="DOID:0070453", source="MONDO:Redundant", source="OMIM:603592", source="Orphanet:93602"} ! hereditary xanthinuria is_a: MONDO:0019254 {source="MESH:C566358", source="MONDO:Redundant", source="Orphanet:93602/inferred"} ! inborn disorder of purine or pyrimidine metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011346 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18234 {source="MONDO:mim2gene_medgen"} ! MOCOS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18234 {source="OMIM:603592"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-2" xsd:anyURI {source="GARD:0005620"} [Term] @@ -255591,7 +254695,6 @@ xref: UMLS:C1863659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019587 {source="DC-OMIM:603622", source="DOID:0110548", source="MONDO:Redundant", source="OMIM:603622"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7579 ! MYH9 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7579 {source="MONDO:mim2gene_medgen"} ! MYH9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -255624,7 +254727,6 @@ xref: UMLS:C1863655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019588 {source="DC-OMIM:603629", source="DOID:0110479", source="MONDO:Redundant", source="OMIM:603629"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11720 ! TECTA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11720 {source="MONDO:mim2gene_medgen"} ! TECTA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -255686,7 +254788,6 @@ xref: UMLS:C1863634 {source="MONDO:equivalentTo", source="MEDGEN:355026", source is_a: MONDO:0015993 {source="DC-OMIM:603649", source="DOID:0111012", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:603649"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17282 ! RIMS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17282 {source="MONDO:mim2gene_medgen"} ! RIMS1 [Term] id: MONDO:0011356 @@ -255752,7 +254853,6 @@ xref: SCTID:715427008 {source="MONDO:equivalentTo"} xref: UMLS:C1863616 {source="MEDGEN:350933", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016643 {source="Orphanet:1827"} ! frontonasal dysplasia is_a: MONDO:0018237 {source="Orphanet:1827"} ! acrofacial dysostosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29316 {source="MONDO:mim2gene_medgen"} ! ZSWIM6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2393/frontonasal-dysplasia-acromelic" xsd:anyURI {source="GARD:0002393"} @@ -255794,7 +254894,6 @@ xref: OMIM:603688 {source="MONDO:equivalentTo"} xref: UMLS:C1863600 {source="MEDGEN:400334", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:603688", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0008315 {source="Orphanet:1331/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! prostate cancer -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3393 {source="MONDO:mim2gene_medgen"} ! EPHB2 relationship: predisposes_towards MONDO:0001657 {source="OMIM:603688"} ! brain cancer relationship: predisposes_towards MONDO:0008315 {source="OMIM:603688"} ! prostate cancer property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -255841,7 +254940,6 @@ is_a: MONDO:0016112 {source="Orphanet:178464"} ! hereditary inclusion-body myopa is_a: MONDO:0018949 {source="DC-OMIM:607569", source="MONDO:Redundant", source="Orphanet:34521/inferred"} ! distal myopathy is_a: MONDO:0100494 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal dominant titinopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011362 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 {source="MONDO:mim2gene_medgen"} ! TTN property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12591/hereditary-proximal-myopathy-with-early-respiratory-failure" xsd:anyURI {source="GARD:0012591"} [Term] @@ -255887,8 +254985,8 @@ xref: OMIM:603720 {source="MONDO:equivalentTo", source="DOID:0110471"} xref: UMLS:C1863561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350211"} is_a: MONDO:0019588 {source="DC-OMIM:603720", source="DOID:0110471", source="MONDO:Redundant", source="OMIM:603720"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16035 ! STRC -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16035 {source="MONDO:mim2gene_medgen"} ! STRC +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16035 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16035 {source="OMIM:603720"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -255925,7 +255023,6 @@ xref: UMLS:C1863557 {source="MEDGEN:350209", source="MONDO:equivalentTo", source is_a: MONDO:0000734 {source="DC-OMIM:603736", source="DOID:0060290"} ! Ohdo syndrome and variants is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17582 {source="MONDO:mim2gene_medgen"} ! KAT6B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -256025,7 +255122,6 @@ is_a: MONDO:0005439 {source="DC-OMIM:603776", source="MONDO:Redundant", source=" intersection_of: MONDO:0005439 ! familial hypercholesterolemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20001 ! PCSK9 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011369 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20001 {source="MONDO:mim2gene_medgen"} ! PCSK9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -256049,7 +255145,6 @@ xref: UMLS:C1863534 {source="MONDO:equivalentTo", source="MEDGEN:355004", source is_a: MONDO:0019353 {source="DC-OMIM:603786", source="MONDO:Redundant"} ! Stargardt disease intersection_of: MONDO:0019353 ! Stargardt disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 ! PROM1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 {source="MONDO:mim2gene_medgen"} ! PROM1 [Term] id: MONDO:0011371 @@ -256132,7 +255227,7 @@ xref: UMLS:C1863512 {source="MONDO:equivalentTo", source="MEDGEN:400313", source is_a: MONDO:0037748 {source="NCIT:C128114"} ! hyperlipoproteinemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011374 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018328 {source="Orphanet:391665/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! homozygous familial hypercholesterolemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18640 {source="MONDO:mim2gene_medgen"} ! LDLRAP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18640 {source="OMIM:603813"} [Term] id: MONDO:0011375 @@ -256168,7 +255263,6 @@ xref: UMLS:C2751898 {source="MEDGEN:414502", source="MONDO:equivalentTo", source is_a: MONDO:0100234 {source="DC-OMIM:603829", source="MESH:C567851"} ! paroxysmal familial ventricular fibrillation intersection_of: MONDO:0100234 ! paroxysmal familial ventricular fibrillation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 ! SCN5A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 {source="MONDO:mim2gene_medgen"} ! SCN5A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -256200,7 +255294,6 @@ is_a: MONDO:0019171 {source="OMIM:603830", source="Orphanet:101016-prototype"} ! intersection_of: MONDO:0019171 ! familial long QT syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 ! SCN5A relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110646", source="MESH:C565840", source="NCIT:C137959", source="OMIM:603830", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 {source="MONDO:mim2gene_medgen"} ! SCN5A property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3286/long-qt-syndrome-3" xsd:anyURI {source="GARD:0003286"} [Term] @@ -256257,7 +255350,6 @@ xref: SCTID:716682000 {source="MONDO:equivalentTo"} xref: UMLS:C1858990 {source="MEDGEN:347036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019402 {source="DC-OMIM:603902", source="DOID:0080770", source="MESH:C565834", source="Orphanet:231226"} ! beta thalassemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011381 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4827 {source="MONDO:mim2gene_medgen"} ! HBB [Term] id: MONDO:0011382 @@ -256329,7 +255421,6 @@ relationship: excluded_subClassOf MONDO:0015770 {source="MONDO:0015890-obsoleted relationship: excluded_subClassOf MONDO:0018374 {source="MONDO:0018377-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! secondary avascular necrosis relationship: excluded_subClassOf MONDO:0018384 {source="MONDO:0018377-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete avascular necrosis of genetic origin relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:603903", source="Orphanet:232"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4827 {source="MONDO:mim2gene_medgen"} ! HBB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7391" xsd:anyURI [Term] @@ -256364,7 +255455,6 @@ xref: UMLS:C1858968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017979 {source="DC-OMIM:603909", source="DOID:0110115", source="MESH:C565833", source="MONDO:Redundant", source="NCIT:C39576"} ! autoimmune lymphoproliferative syndrome intersection_of: MONDO:0017979 ! autoimmune lymphoproliferative syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1500 ! CASP10 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1500 {source="MONDO:mim2gene_medgen"} ! CASP10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -256423,6 +255513,7 @@ xref: UMLS:C0158266 {source="MEDGEN:102357", source="MONDO:equivalentTo", source is_a: MONDO:0000812 {source="MESH:D055959"} ! vertebral column disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: excluded_subClassOf MONDO:0000834 {source="DOID:90", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete bone deterioration disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1980 {source="OMIM:603932"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5633" xsd:anyURI [Term] @@ -256448,8 +255539,8 @@ xref: OMIM:603933 {source="MONDO:equivalentTo"} xref: UMLS:C2676832 {source="MEDGEN:382957", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000065 {source="DC-OMIM:603933", source="MONDO:Redundant", source="OMIM:603933"} ! microvascular complications of diabetes, susceptibility intersection_of: MONDO:0000065 ! microvascular complications of diabetes, susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12680 ! VEGFA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12680 {source="MONDO:mim2gene_medgen"} ! VEGFA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12680 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12680 {source="OMIM:603933"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -256519,8 +255610,8 @@ xref: OMIM:603965 {source="DOID:0111129", source="MONDO:equivalentTo"} xref: UMLS:C1858915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349053"} is_a: MONDO:0005363 {source="DC-OMIM:603965", source="DOID:0111129", source="MESH:C565831", source="MONDO:Redundant", source="OMIM:603965"} ! inherited focal segmental glomerulosclerosis intersection_of: MONDO:0005363 ! inherited focal segmental glomerulosclerosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12338 ! TRPC6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12338 {source="MONDO:mim2gene_medgen"} ! TRPC6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12338 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12338 {source="OMIM:603965"} [Term] id: MONDO:0011391 @@ -256602,7 +255693,6 @@ xref: OMIM:604091 {source="MONDO:equivalentTo"} xref: UMLS:C5231558 {source="MONDO:equivalentTo", source="MEDGEN:1684828", source="MONDO:MEDGEN"} is_a: MONDO:0005066 {source="https://orcid.org/0000-0002-1780-5230"} ! metabolic disease is_a: MONDO:0017773 {source="https://orcid.org/0000-0001-5208-3432"} ! hypoalphalipoproteinemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29 {source="OMIM:604091"} ! ABCA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI @@ -256634,7 +255724,6 @@ is_a: MONDO:0015993 {source="DC-OMIM:604116", source="DOID:0111013", source="MON is_a: MONDO:0800406 {source="https://clinicalgenome.org/affiliation/40072/"} ! ABCA4-related retinopathy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34 ! ABCA4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34 {source="MONDO:mim2gene_medgen"} ! ABCA4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10653/cone-rod-dystrophy-3" xsd:anyURI {source="GARD:0010653"} @@ -256666,7 +255755,7 @@ xref: UMLS:C1858805 {source="MONDO:equivalentTo", source="MEDGEN:395099", source is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0017666 {source="https://orcid.org/0000-0001-5208-3432"} ! diffuse palmoplantar keratoderma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6663 {source="MONDO:mim2gene_medgen"} ! LORICRIN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6663 {source="OMIM:604117"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2114" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -256699,7 +255788,6 @@ is_a: MONDO:0003406 {source="Orphanet:314404"} ! sleep-wake disorder is_a: MONDO:0019792 {source="Orphanet:314404"} ! autosomal dominant cerebellar ataxia type I relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011397 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0030050 {source="MONDO:Wikidata"} ! Narcolepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2976 {source="MONDO:mim2gene_medgen"} ! DNMT1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy" xsd:anyURI {source="GARD:0012372"} [Term] @@ -256728,7 +255816,6 @@ xref: Orphanet:89843 {source="OMIM:604129", source="MONDO:equivalentTo"} xref: SCTID:403810008 {source="MONDO:equivalentTo"} xref: UMLS:C1275114 {source="MEDGEN:266151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006543 {source="Orphanet:89843"} ! epidermolysis bullosa dystrophica -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1 [Term] id: MONDO:0011399 @@ -256794,7 +255881,6 @@ xref: UMLS:C1858763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016191 ! qualitative or quantitative defects of titin is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:604145"} ! familial dilated cardiomyopathy is_a: MONDO:0100494 {source="https://orcid.org/0000-0001-9310-0163"} ! autosomal dominant titinopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 {source="MONDO:mim2gene_medgen"} ! TTN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7347" xsd:anyURI [Term] @@ -256854,7 +255940,7 @@ relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", sourc relationship: excluded_subClassOf MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder relationship: excluded_subClassOf MONDO:0020165 {source="Orphanet:48431", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic epicanthus relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2498 {source="MONDO:mim2gene_medgen"} ! CTDP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2498 {source="OMIM:604168"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -256878,8 +255964,8 @@ xref: Orphanet:54260 {source="OMIM:604169"} xref: UMLS:C1858725 {source="MEDGEN:349005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018901 {source="DC-OMIM:604169", source="MONDO:Redundant", source="OMIM:604169"} ! left ventricular noncompaction intersection_of: MONDO:0018901 ! left ventricular noncompaction -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3057 ! DTNA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3057 {source="MONDO:mim2gene_medgen"} ! DTNA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3057 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3057 {source="OMIM:604169"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -256923,7 +256009,7 @@ xref: UMLS:C1858723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0016382 {source="Orphanet:221046"} ! hereditary poikiloderma relationship: disease_has_feature MONDO:0001475 {source="MONDO:Wikidata"} ! neutropenia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25792 {source="MONDO:mim2gene_medgen"} ! USB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25792 {source="OMIM:604173"} [Term] id: MONDO:0011406 @@ -256991,7 +256077,6 @@ xref: UMLS:C1858712 {source="MEDGEN:349003", source="MONDO:equivalentTo", source is_a: MONDO:0019064 {source="DOID:0110763", source="MESH:C537482", source="MONDO:Redundant", source="OMIM:604187", source="Orphanet:100991/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6323 ! KIF5A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6323 {source="MONDO:mim2gene_medgen"} ! KIF5A [Term] id: MONDO:0011409 @@ -257043,7 +256128,7 @@ xref: Orphanet:314597 {source="OMIM:604213", source="MONDO:equivalentTo"} xref: UMLS:C1858695 {source="MEDGEN:347699", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:314597", source="Orphanet:314597/inferred"} ! disorder of development or morphogenesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011411 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29501 {source="MONDO:mim2gene_medgen"} ! GPSM2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29501 {source="OMIM:604213"} [Term] id: MONDO:0011412 @@ -257071,7 +256156,7 @@ xref: SCTID:702421006 {source="MONDO:equivalentTo"} xref: UMLS:C1858680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346965"} is_a: MONDO:0020074 {source="Orphanet:85110"} ! progressive myoclonus epilepsy is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8943 {source="MONDO:mim2gene_medgen"} ! SERPINI1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8943 {source="OMIM:604218"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10037/familial-encephalopathy-with-neuroserpin-inclusion-bodies" xsd:anyURI {source="GARD:0010037"} @@ -257103,10 +256188,10 @@ xref: Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:604219"} xref: UMLS:C1858679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347693"} is_a: MONDO:0005129 {source="DOID:0110266", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:604219"} ! cataract intersection_of: MONDO:0005129 ! cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2388 ! CRYAA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2388 relationship: excluded_subClassOf MONDO:0011060 {source="Orphanet:91492/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset non-syndromic cataract relationship: excluded_subClassOf MONDO:0015300 {source="Orphanet:1377/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! cataract - microcornea syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2388 {source="MONDO:mim2gene_medgen"} ! CRYAA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2388 {source="OMIM:604219"} [Term] id: MONDO:0011414 @@ -257171,7 +256256,6 @@ is_a: MONDO:0018998 {source="DC-OMIM:604232", source="DOID:0110331", source="MES intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20423 ! SPATA7 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20423 {source="MONDO:mim2gene_medgen"} ! SPATA7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9661/leber-congenital-amaurosis-3" xsd:anyURI {source="GARD:0009661"} @@ -257221,8 +256305,8 @@ xref: SCTID:719974003 {source="MONDO:equivalentTo"} xref: UMLS:C1858664 {source="MONDO:equivalentTo", source="MEDGEN:388114", source="MONDO:MEDGEN"} is_a: MONDO:0006507 {source="DOID:0111030", source="MESH:C537248", source="MONDO:Redundant", source="OMIM:604250", source="Orphanet:225123"} ! hereditary hemochromatosis intersection_of: MONDO:0006507 ! hereditary hemochromatosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11762 ! TFR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11762 {source="MONDO:mim2gene_medgen"} ! TFR2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11762 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11762 {source="OMIM:604250"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10093/hemochromatosis-type-3" xsd:anyURI {source="GARD:0010093"} [Term] @@ -257304,8 +256388,8 @@ xref: UMLS:C3276276 {source="MEDGEN:477906", source="MONDO:equivalentTo", source is_a: MONDO:0000066 {source="DC-OMIM:604273"} ! mitochondrial complex deficiency is_a: MONDO:0014471 {source="DOID:0050768", source="OMIM:604273", source="Orphanet:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18802 ! ATPAF2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18802 {source="MONDO:mim2gene_medgen"} ! ATPAF2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18802 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18802 {source="OMIM:604273"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1459/mitochondrial-complex-v-deficiency" xsd:anyURI {source="GARD:0001459"} [Term] @@ -257334,7 +256418,7 @@ xref: UMLS:C1970309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0008369 {source="MONDO:Redundant", source="Orphanet:93607"} ! proximal renal tubular acidosis intersection_of: MONDO:0008369 ! proximal renal tubular acidosis intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11030 {source="MONDO:mim2gene_medgen"} ! SLC4A4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11030 {source="OMIM:604278"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -257376,8 +256460,8 @@ is_a: MONDO:0016142 {source="Orphanet:119"} ! qualitative or quantitative defect is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0019056 ! neuromuscular disease intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10806 ! SGCB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10806 {source="MONDO:mim2gene_medgen"} ! SGCB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10806 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10806 {source="OMIM:604286"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -257471,7 +256555,7 @@ is_a: MONDO:0018307 {source="Orphanet:48818"} ! neurodegeneration with brain iro is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:48818"} ! inherited retinal dystrophy relationship: disease_arises_from_feature HP:0011031 ! Abnormality of iron homeostasis relationship: disease_has_feature HP:0002344 ! Progressive neurologic deterioration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2295 {source="MONDO:mim2gene_medgen"} ! CP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2295 {source="OMIM:604290"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia" xsd:anyURI {source="GARD:0009499"} @@ -257515,7 +256599,6 @@ is_a: MONDO:0010004 {source="DC-OMIM:604292", source="DOID:0060783", source="MON intersection_of: MONDO:0010004 ! EEC syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 ! TP63 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:604292"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 {source="MONDO:mim2gene_medgen"} ! TP63 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -257584,6 +256667,7 @@ is_a: MONDO:0005554 {source="Orphanet:92"} ! rheumatic disorder is_a: MONDO:0005578 {source="DOID:676/inferred", source="MESH:D001171", source="NCIT:C114357"} ! arthritic joint disease relationship: excluded_subClassOf MONDO:0017021 {source="Orphanet:92", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease relationship: has_characteristic MONDO:0700005 ! idiopathic +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7097 {source="OMIM:604302"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -257610,7 +256694,6 @@ xref: Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:604307"} xref: UMLS:C1833118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318793"} is_a: MONDO:0011060 {source="Orphanet:91492/btnt", source="Orphanet:98984", source="Orphanet:98984/inferred"} ! early-onset non-syndromic cataract relationship: excluded_subClassOf MONDO:0005129 {source="DOID:0110235", source="MESH:C565133", source="https://orcid.org/0000-0001-5208-3432"} ! cataract -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2410 {source="MONDO:mim2gene_medgen"} ! CRYGC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3904" xsd:anyURI [Term] @@ -257634,7 +256717,6 @@ xref: Orphanet:99715 {source="MONDO:equivalentObsolete", source="OMIM:604308"} xref: UMLS:C1858556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346932"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016663 ! overlapping connective tissue disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8489/mass-syndrome" xsd:anyURI {source="GARD:0008489"} [Term] @@ -257706,7 +256788,7 @@ xref: OMIM:604317 {source="MONDO:equivalentTo"} xref: UMLS:C1858535 {source="MEDGEN:346929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016660 {source="DC-OMIM:604317", source="DOID:0070293", source="OMIM:604317"} ! autosomal recessive primary microcephaly relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011435 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24502 {source="MONDO:mim2gene_medgen"} ! WDR62 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24502 {source="OMIM:604317"} [Term] id: MONDO:0011436 @@ -257760,7 +256842,6 @@ is_a: MONDO:0001516 {source="DC-OMIM:604320", source="DOID:0111064", source="MES is_a: MONDO:0015363 {source="DOID:0111064", source="OMIM:604320", source="Orphanet:98920"} ! neuronopathy, distal hereditary motor, autosomal recessive intersection_of: MONDO:0001516 ! spinal muscular atrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5542 ! IGHMBP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5542 {source="MONDO:mim2gene_medgen"} ! IGHMBP2 [Term] id: MONDO:0011437 @@ -257777,7 +256858,7 @@ xref: MESH:C565792 {source="MONDO:equivalentTo"} xref: OMIM:604321 {source="MONDO:equivalentTo"} xref: UMLS:C1858516 {source="MEDGEN:347655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016660 {source="DC-OMIM:604321", source="DOID:0070291", source="OMIM:604321"} ! autosomal recessive primary microcephaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24054 {source="MONDO:mim2gene_medgen"} ! KNL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24054 {source="OMIM:604321"} [Term] id: MONDO:0011438 @@ -257841,7 +256922,7 @@ xref: Orphanet:98762 {source="OMIM:604326", source="MONDO:equivalentTo"} xref: SCTID:719208005 {source="MONDO:equivalentTo"} xref: UMLS:C1858501 {source="MEDGEN:347653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019792 {source="Orphanet:98762"} ! autosomal dominant cerebellar ataxia type I -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9305 {source="MONDO:mim2gene_medgen"} ! PPP2R2B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9305 {source="OMIM:604326"} [Term] id: MONDO:0011440 @@ -257932,8 +257013,8 @@ xref: Orphanet:164736 {source="OMIM:604348"} xref: UMLS:C3807327 {source="MEDGEN:813657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015609 {source="DC-OMIM:604348", source="DOID:0110011", source="MONDO:Redundant", source="OMIM:604348"} ! advanced sleep phase syndrome intersection_of: MONDO:0015609 ! advanced sleep phase syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8846 ! PER2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8846 {source="MONDO:mim2gene_medgen"} ! PER2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8846 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8846 {source="OMIM:604348"} [Term] id: MONDO:0011443 @@ -257954,7 +257035,6 @@ is_a: MONDO:0000032 {source="DC-OMIM:604352", source="DOID:0111305", source="MON is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease intersection_of: MONDO:0000032 ! febrile seizures, familial intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17416 ! ADGRV1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17416 {source="MONDO:mim2gene_medgen"} ! ADGRV1 [Term] id: MONDO:0011444 @@ -257978,8 +257058,8 @@ xref: UMLS:C0751083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease is_a: MONDO:0007473 {source="MONDO:Redundant", source="OMIM:604356", source="Orphanet:233/btnt"} ! Duane retraction syndrome intersection_of: MONDO:0007473 ! Duane retraction syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1943 ! CHN1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1943 {source="MONDO:mim2gene_medgen"} ! CHN1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1943 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1943 {source="OMIM:604356"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9966/duane-syndrome-type-2" xsd:anyURI {source="GARD:0009966"} [Term] @@ -258028,7 +257108,6 @@ intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11226 ! SPG11 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011445 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2822", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11226 {source="MONDO:mim2gene_medgen"} ! SPG11 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -258105,7 +257184,6 @@ is_a: MONDO:0002561 {source="MONDO:Redundant", source="NCIT:C85067", source="Orp is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption is_a: MONDO:0019366 {source="Orphanet:309334"} ! free sialic acid storage disease relationship: disease_has_basis_in_disruption_of GO:0015136 {source="PMID:21502308"} ! sialic acid transmembrane transporter activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10933 {source="MONDO:mim2gene_medgen"} ! SLC17A5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4754/salla-disease" xsd:anyURI {source="GARD:0004754"} @@ -258141,7 +257219,6 @@ intersection_of: predisposes_towards MONDO:0003582 ! hereditary breast ovarian c relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011450 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0003582 {source="MONDO:0011450", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary breast ovarian cancer syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:604370"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1100 {source="MONDO:mim2gene_medgen"} ! BRCA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -258167,7 +257244,6 @@ xref: UMLS:C5399977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015487 {source="DC-OMIM:604377", source="DOID:0080357", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy intersection_of: MONDO:0015487 ! fatal infantile encephalocardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10604 ! SCO2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10604 {source="MONDO:mim2gene_medgen"} ! SCO2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -258208,7 +257284,6 @@ is_a: MONDO:0008686 {source="Orphanet:170/btnt"} ! isolated familial wooly hair is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18483 ! LIPH -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18483 {source="MONDO:mim2gene_medgen"} ! LIPH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -258279,7 +257354,6 @@ is_a: MONDO:0019005 {source="DC-OMIM:604387", source="DOID:0111114", source="MON intersection_of: MONDO:0019005 ! nephronophthisis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7907 ! NPHP3 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:604387"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7907 {source="MONDO:mim2gene_medgen"} ! NPHP3 [Term] id: MONDO:0011457 @@ -258342,7 +257416,6 @@ is_a: MONDO:0018998 {source="DC-OMIM:604393", source="DOID:0110332", source="MES intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/359 ! AIPL1 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/359 {source="MONDO:mim2gene_medgen"} ! AIPL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9662/leber-congenital-amaurosis-4" xsd:anyURI {source="GARD:0009662"} @@ -258376,7 +257449,6 @@ is_a: MONDO:0016342 {source="DOID:0110074", source="MESH:C565776", source="MONDO intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28472 ! TMEM43 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011459 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28472 {source="MONDO:mim2gene_medgen"} ! TMEM43 [Term] id: MONDO:0011460 @@ -258423,7 +257495,6 @@ is_a: MONDO:0000032 {source="DC-OMIM:604403", source="MONDO:Redundant", source=" is_a: MONDO:0018214 {source="DC-OMIM:604403", source="DOID:0111294", source="OMIM:604403"} ! generalized epilepsy with febrile seizures plus intersection_of: MONDO:0000032 ! febrile seizures, familial intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 ! SCN1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 {source="MONDO:mim2gene_medgen"} ! SCN1A [Term] id: MONDO:0011462 @@ -258456,7 +257527,7 @@ xref: SCTID:724015007 {source="MONDO:equivalentTo"} xref: UMLS:C1858361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346801"} is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder is_a: MONDO:0019751 {source="NCIT:C119055", source="Orphanet:69126/inferred", source="PMID:23827249", source="PMID:33305249", source="https://orcid.org/0000-0001-7941-2961"} ! autoinflammatory syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9580 {source="MONDO:mim2gene_medgen"} ! PSTPIP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9580 {source="OMIM:604416"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI [Term] @@ -258501,7 +257572,7 @@ xref: Orphanet:98767 {source="OMIM:604432", source="MONDO:equivalentTo"} xref: SCTID:719207000 {source="MONDO:equivalentTo"} xref: UMLS:C1858351 {source="MEDGEN:346799", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019793 {source="Orphanet:98767"} ! autosomal dominant cerebellar ataxia type III -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19141 {source="MONDO:mim2gene_medgen"} ! TTBK2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19141 {source="OMIM:604432"} [Term] id: MONDO:0011465 @@ -258547,7 +257618,6 @@ xref: OMIM:604454 {source="Orphanet:603", source="MONDO:equivalentTo", source="O xref: Orphanet:603 {source="OMIM:604454", source="MONDO:equivalentTo"} xref: UMLS:C0221054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67441"} is_a: MONDO:0016108 {source="Orphanet:603"} ! autosomal dominant distal myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11802 {source="MONDO:mim2gene_medgen"} ! TIA1 [Term] id: MONDO:0011467 @@ -258581,7 +257651,6 @@ xref: Orphanet:90117 {source="MONDO:equivalentTo", source="OMIM:604484"} xref: UMLS:C1858338 {source="MONDO:equivalentTo", source="MEDGEN:346886", source="MONDO:MEDGEN"} is_a: MONDO:0002316 {source="DC-OMIM:604484"} ! motor peripheral neuropathy is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11758 {source="MONDO:mim2gene_medgen"} ! TFG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI [Term] @@ -258654,7 +257723,7 @@ xref: SCTID:716699004 {source="MONDO:equivalentTo"} xref: UMLS:C1858302 {source="MEDGEN:388032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015550 {source="Orphanet:158668"} ! suprabasal epidermolysis bullosa simplex is_a: MONDO:0019287 {source="MESH:C536183", source="Orphanet:158668"} ! ectodermal dysplasia syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9023 {source="MONDO:mim2gene_medgen"} ! PKP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9023 {source="OMIM:604536"} [Term] id: MONDO:0011473 @@ -258679,10 +257748,10 @@ xref: UMLS:C1858301 {source="MEDGEN:388031", source="MONDO:equivalentTo", source is_a: MONDO:0018998 {source="DC-OMIM:604537", source="DOID:0110215", source="MESH:C536602", source="MONDO:Redundant", source="OMIM:604537"} ! Leber congenital amaurosis is_a: MONDO:0100445 {source="https://clinicalgenome.org/affiliation/40072/"} ! LCA5-related retinopathy intersection_of: MONDO:0018998 ! Leber congenital amaurosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31923 ! LCA5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31923 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31923 {source="MONDO:mim2gene_medgen"} ! LCA5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31923 {source="OMIM:604537"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9983/leber-congenital-amaurosis-5" xsd:anyURI {source="GARD:0009983"} @@ -258712,7 +257781,6 @@ xref: UMLS:C1970298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019490 {source="DC-OMIM:604559", source="DOID:0111076", source="MONDO:Redundant", source="OMIM:604559"} ! progressive familial heart block intersection_of: MONDO:0019490 ! progressive familial heart block intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17993 ! TRPM4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17993 {source="MONDO:mim2gene_medgen"} ! TRPM4 [Term] id: MONDO:0011475 @@ -258751,9 +257819,9 @@ xref: UMLS:C1858278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015626 {source="DOID:0110190/inferred", source="MESH:C535421", source="MONDO:Redundant", source="OMIM:604563", source="Orphanet:99956/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018995 {source="DOID:0110190", source="MONDO:Redundant", source="Orphanet:99956"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2135 ! SBF2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2135 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011475 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2135 {source="MONDO:mim2gene_medgen"} ! SBF2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2135 {source="OMIM:604563"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9200/charcot-marie-tooth-disease-type-4b2" xsd:anyURI {source="GARD:0009200"} [Term] @@ -258820,8 +257888,8 @@ xref: UMLS:C1970291 {source="MEDGEN:410035", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005486 {source="DC-OMIM:604625", source="MONDO:Redundant", source="OMIM:604625"} ! tooth agenesis intersection_of: MONDO:0005486 ! tooth agenesis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8623 ! PAX9 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8623 {source="MONDO:mim2gene_medgen"} ! PAX9 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8623 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8623 {source="OMIM:604625"} [Term] id: MONDO:0011478 @@ -258871,7 +257939,7 @@ xref: SCTID:8074002 {source="MONDO:equivalentTo"} xref: UMLS:C1299624 {source="MEDGEN:226970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000992 {source="DOID:0111154"} ! heart conduction disease is_a: MONDO:0015914 {source="Orphanet:443236"} ! primary orthostatic hypotension -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11048 {source="MONDO:mim2gene_medgen"} ! SLC6A2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11048 {source="OMIM:604715"} property_value: IAO:0000233 "https://github.com/obophenotype/human-phenotype-ontology/issues/7613" xsd:anyURI [Term] @@ -258902,7 +257970,6 @@ xref: UMLS:C1858172 {source="MEDGEN:346852", source="MONDO:equivalentTo", source is_a: MONDO:0019587 {source="DC-OMIM:604717", source="DOID:0110550", source="MONDO:Redundant", source="OMIM:604717"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/144 ! ACTG1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/144 {source="MONDO:mim2gene_medgen"} ! ACTG1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -258938,7 +258005,6 @@ xref: UMLS:C1858160 {source="MEDGEN:346753", source="MONDO:equivalentTo", source is_a: MONDO:0015338 {source="Orphanet:1541", source="PMID:31633310"} ! syndromic craniosynostosis is_a: MONDO:0015469 {source="MONDO:Redundant", source="OMIM:604757", source="Orphanet:1541/inferred"} ! craniosynostosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011481 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7392 {source="MONDO:mim2gene_medgen"} ! MSX2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -258963,7 +258029,6 @@ xref: OMIM:604765 {source="MONDO:equivalentTo", source="DOID:0110431"} xref: UMLS:C1858154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387998"} is_a: MONDO:0016187 ! qualitative or quantitative defects of desmin is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:604765"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2770 {source="MONDO:mim2gene_medgen"} ! DES [Term] id: MONDO:0011483 @@ -259018,7 +258083,6 @@ is_a: MONDO:0016342 {source="DOID:0110071", source="MESH:C563409", source="MONDO is_a: MONDO:0017990 {source="DC-OMIM:604772", source="DOID:0060675", source="OMIM:604772"} ! catecholaminergic polymorphic ventricular tachycardia intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10484 ! RYR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10484 {source="MONDO:mim2gene_medgen"} ! RYR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6200" xsd:anyURI @@ -259057,6 +258121,7 @@ xref: UMLS:C1858133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017265 {source="DOID:0060714", source="OMIM:604777"} ! autosomal recessive congenital ichthyosis is_a: MONDO:0017778 {source="MESH:C537265", source="Orphanet:313/btnt"} ! lamellar ichthyosis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26820 {source="OMIM:604777"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9734/ichthyosis-lamellar-3" xsd:anyURI {source="GARD:0009734"} @@ -259132,8 +258197,8 @@ xref: Orphanet:2512 {source="OMIM:604804"} xref: UMLS:C1858108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347619"} is_a: MONDO:0016660 {source="DC-OMIM:604804", source="DOID:0070286", source="MONDO:Redundant", source="OMIM:604804"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18672 ! CDK5RAP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18672 {source="MONDO:mim2gene_medgen"} ! CDK5RAP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18672 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18672 {source="OMIM:604804"} [Term] id: MONDO:0011489 @@ -259166,7 +258231,6 @@ is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure here is_a: MONDO:0019064 {source="DOID:0110765", source="MESH:C537484", source="MONDO:Redundant", source="OMIM:604805", source="Orphanet:100993/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10468 ! RTN2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10468 {source="MONDO:mim2gene_medgen"} ! RTN2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI [Term] @@ -259259,7 +258323,6 @@ is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019354 {source="DC-OMIM:604841", source="DOID:0080675", source="MONDO:Redundant", source="NCIT:C74985", source="OMIM:604841", source="Orphanet:90654"} ! Stickler syndrome intersection_of: MONDO:0019354 ! Stickler syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 ! COL11A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 {source="MONDO:mim2gene_medgen"} ! COL11A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5020/stickler-syndrome-type-2" xsd:anyURI {source="GARD:0005020"} @@ -259308,7 +258371,6 @@ xref: UMLS:C0432214 {source="MEDGEN:609409", source="MONDO:equivalentTo", source is_a: MONDO:0016761 {source="Orphanet:93279"} ! spondyloepiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:93279", source="PMID:31633310"} ! type 2 collagenopathy is_a: MONDO:1030002 {source="https://clinicalgenome.org/affiliation/40065/", source="https://orcid.org/0009-0003-2127-3550"} ! dysplasia of the proximal femoral epiphyses -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -259333,7 +258395,6 @@ xref: SCTID:699189004 {source="MONDO:equivalentTo"} xref: UMLS:C1858051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387974"} is_a: MONDO:0015762 {source="Orphanet:168583"} ! progressive familial intrahepatic cholestasis relationship: has_characteristic MONDO:0021152 {source="OMIM:604901"} ! inherited -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1983 {source="MONDO:mim2gene_medgen"} ! UTP4 [Term] id: MONDO:0011498 @@ -259350,7 +258411,7 @@ xref: MEDGEN:346728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604906 {source="MONDO:equivalentTo", source="DOID:0070085"} xref: UMLS:C1858050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346728"} is_a: MONDO:0100182 {source="DC-OMIM:604906", source="DOID:0070085"} ! schizophrenia, susceptibility to -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2888 {source="MONDO:mim2gene_medgen"} ! DISC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2888 {source="OMIM:604906"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -259438,8 +258499,8 @@ xref: Orphanet:3463 {source="OMIM:604928"} xref: UMLS:C1858028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347604"} is_a: MONDO:0018105 {source="DC-OMIM:604928", source="DOID:0110630", source="MONDO:Entailed", source="MONDO:Redundant"} ! Wolfram syndrome intersection_of: MONDO:0018105 ! Wolfram syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24212 ! CISD2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24212 {source="MONDO:mim2gene_medgen"} ! CISD2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24212 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24212 {source="OMIM:604928"} [Term] id: MONDO:0011503 @@ -259465,9 +258526,9 @@ xref: UMLS:C3551716 {source="MEDGEN:764630", source="MONDO:equivalentTo", source is_a: MONDO:0000193 {source="DC-OMIM:604931", source="DOID:0090141", source="MONDO:Redundant", source="OMIM:604931", source="Orphanet:168588/btnt"} ! cortisone reductase deficiency is_a: MONDO:0019052 {source="NCIT:C131849"} ! inborn errors of metabolism intersection_of: MONDO:0000193 ! cortisone reductase deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4795 ! H6PD +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4795 relationship: disease_disrupts GO:0003845 ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)+] activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4795 {source="MONDO:mim2gene_medgen"} ! H6PD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4795 {source="OMIM:604931"} [Term] id: MONDO:0011504 @@ -259493,7 +258554,6 @@ xref: Orphanet:443162 {source="MONDO:equivalentTo"} xref: UMLS:C1857977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341899"} is_a: MONDO:0015660 ! sporadic fetal brain disruption sequence is_a: MONDO:0700116 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! microcephaly with lissencephaly and/or hydranencephaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17619 {source="MONDO:mim2gene_medgen"} ! NDE1 [Term] id: MONDO:0011505 @@ -259521,9 +258581,9 @@ xref: Orphanet:426 {source="OMIM:605019"} xref: UMLS:C1857970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341895"} is_a: MONDO:0017774 {source="DC-OMIM:605019", source="DOID:0111061", source="MESH:C565732", source="MONDO:Entailed", source="MONDO:Redundant"} ! hypobetalipoproteinemia intersection_of: MONDO:0017774 ! hypobetalipoproteinemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/491 ! ANGPTL3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/491 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011505 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/491 {source="MONDO:mim2gene_medgen"} ! ANGPTL3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/491 {source="OMIM:605019"} [Term] id: MONDO:0011506 @@ -259625,7 +258685,6 @@ is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:97297", source=" is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C131533"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:97297"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011510 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18318 {source="MONDO:mim2gene_medgen"} ! ASXL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome" xsd:anyURI {source="GARD:0010140"} @@ -259673,7 +258732,6 @@ is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163"} ! cancer or relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011512 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:79493", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:605041", source="Orphanet:79493"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2584 {source="MONDO:mim2gene_medgen"} ! CYLD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -259774,7 +258832,6 @@ xref: SCTID:766937004 {source="MONDO:equivalentTo"} xref: UMLS:C1854631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343170"} is_a: MONDO:0024575 {source="Orphanet:88660"} ! pregnancy disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011517 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7979 {source="MONDO:mim2gene_medgen"} ! NR3C2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -259806,7 +258863,7 @@ xref: UMLS:C1854630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015159 {source="Orphanet:319182"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011518 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:319182", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7132 {source="MONDO:mim2gene_medgen"} ! KMT2A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7132 {source="OMIM:605130"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome" xsd:anyURI {source="GARD:0005565"} @@ -259837,7 +258894,6 @@ xref: UMLS:C1854594 {source="MEDGEN:343162", source="MONDO:equivalentTo", source is_a: MONDO:0019587 {source="DC-OMIM:605192", source="DOID:0110553", source="MONDO:Redundant", source="OMIM:605192"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10887 ! SIX1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10887 {source="MONDO:mim2gene_medgen"} ! SIX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -259915,7 +258971,6 @@ xref: Orphanet:110 {source="OMIM:605231"} xref: UMLS:C1858054 {source="MEDGEN:347610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015229 {source="DC-OMIM:605231", source="DOID:0110128", source="MESH:C565738", source="OMIM:605231"} ! Bardet-Biedl syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:605231"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7108 {source="MONDO:mim2gene_medgen"} ! MKKS property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10205/bardet-biedl-syndrome-6" xsd:anyURI {source="GARD:0010205"} [Term] @@ -260051,10 +259106,10 @@ xref: UMLS:C1720956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003947 {source="DOID:0060758", source="MONDO:Redundant", source="OMIM:605258"} ! hyper-IgM syndrome is_a: MONDO:0006025 {source="DOID:0060758"} ! autosomal recessive disease intersection_of: MONDO:0003947 ! hyper-IgM syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13203 ! AICDA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13203 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011528 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13203 {source="MONDO:mim2gene_medgen"} ! AICDA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13203 {source="OMIM:605258"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10578/immunodeficiency-with-hyper-igm-type-2" xsd:anyURI {source="GARD:0010578"} [Term] @@ -260085,7 +259140,7 @@ xref: Orphanet:98768 {source="OMIM:605259", source="MONDO:equivalentTo"} xref: SCTID:719209002 {source="MONDO:equivalentTo"} xref: UMLS:C1854488 {source="MEDGEN:344297", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019792 {source="Orphanet:98768"} ! autosomal dominant cerebellar ataxia type I -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6235 {source="MONDO:mim2gene_medgen"} ! KCNC3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6235 {source="OMIM:605259"} [Term] id: MONDO:0011530 @@ -260172,7 +259227,6 @@ xref: UMLS:C1854467 {source="MEDGEN:344289", source="MONDO:equivalentTo", source is_a: MONDO:0019064 {source="DOID:0110766", source="MESH:C537485", source="MONDO:Redundant", source="OMIM:605280", source="Orphanet:100994/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5261 ! HSPD1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5261 {source="MONDO:mim2gene_medgen"} ! HSPD1 [Term] id: MONDO:0011533 @@ -260209,7 +259263,7 @@ is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0019054 ! congenital limb malformation relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:605282", source="Orphanet:363417"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17198 {source="MONDO:mim2gene_medgen"} ! CHSY1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17198 {source="OMIM:605282"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9679/temtamy-preaxial-brachydactyly-syndrome" xsd:anyURI {source="GARD:0009679"} @@ -260252,7 +259306,6 @@ is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0018995 {source="DOID:0110196", source="MONDO:Redundant", source="Orphanet:99953"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4922 ! HK1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4922 {source="MONDO:mim2gene_medgen"} ! HK1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -260279,7 +259332,6 @@ xref: UMLS:C1854442 {source="MEDGEN:343120", source="MONDO:equivalentTo", source is_a: MONDO:0016576 {source="DOID:0090023", source="MONDO:Redundant", source="OMIM:605289"} ! split hand-foot malformation intersection_of: MONDO:0016576 ! split hand-foot malformation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 ! TP63 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 {source="MONDO:mim2gene_medgen"} ! TP63 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -260321,7 +259373,6 @@ is_a: MONDO:0000426 {source="DOID:0060867", source="MONDO:Redundant"} ! autosoma is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:210548", source="Orphanet:210548/inferred"} ! disorder of development or morphogenesis relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:605309", source="Orphanet:210548"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 {source="MONDO:mim2gene_medgen"} ! PTEN [Term] id: MONDO:0011538 @@ -260367,7 +259418,6 @@ is_a: MONDO:0018958 {source="DC-OMIM:605355", source="DOID:0110936", source="MES intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11948 ! TNNT1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011539 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11948 {source="MONDO:mim2gene_medgen"} ! TNNT1 [Term] id: MONDO:0011540 @@ -260393,7 +259443,7 @@ xref: Orphanet:98763 {source="MONDO:equivalentTo", source="OMIM:605361"} xref: SCTID:719210007 {source="MONDO:equivalentTo"} xref: UMLS:C1854369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343106"} is_a: MONDO:0019792 {source="Orphanet:98763"} ! autosomal dominant cerebellar ataxia type I -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9402 {source="MONDO:mim2gene_medgen"} ! PRKCG +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9402 {source="OMIM:605361"} [Term] id: MONDO:0011541 @@ -260431,7 +259481,6 @@ intersection_of: MONDO:0016333 ! familial dilated cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3522 ! EYA4 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011541 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:217622", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3522 {source="MONDO:mim2gene_medgen"} ! EYA4 [Term] id: MONDO:0011542 @@ -260488,7 +259537,6 @@ is_a: MONDO:0000448 {source="DC-OMIM:605373", source="MONDO:Redundant", source=" is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma intersection_of: MONDO:0000448 ! paraganglioma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10682 ! SDHC -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10682 {source="MONDO:mim2gene_medgen"} ! SDHC property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10545/paragangliomas-3" xsd:anyURI {source="GARD:0010545"} [Term] @@ -260515,8 +259563,8 @@ xref: UMLS:C1854335 {source="MEDGEN:344263", source="MONDO:equivalentTo", source is_a: MONDO:0000030 {source="DC-OMIM:605375", source="OMIM:605375"} ! sleep-related hypermotor epilepsy is_a: MONDO:0020300 {source="DOID:0060684", source="MONDO:Redundant"} ! autosomal dominant nocturnal frontal lobe epilepsy intersection_of: MONDO:0020300 ! autosomal dominant nocturnal frontal lobe epilepsy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1962 ! CHRNB2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1962 {source="MONDO:mim2gene_medgen"} ! CHRNB2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1962 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1962 {source="OMIM:605375"} [Term] id: MONDO:0011546 @@ -260536,7 +259584,7 @@ xref: UMLS:C1415817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000153 {source="DC-OMIM:605376"} ! transposition of the great arteries is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018677 {source="DC-OMIM:605376", source="OMIM:605376"} ! visceral heterotaxy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18292 {source="MONDO:mim2gene_medgen"} ! CFC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18292 {source="OMIM:605376"} [Term] id: MONDO:0011547 @@ -260564,8 +259612,8 @@ xref: UMLS:C1854311 {source="MEDGEN:343089", source="MONDO:equivalentTo", source is_a: MONDO:0005129 {source="DOID:0110265", source="MESH:C535343", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:605387"} ! cataract is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16171 ! CHMP4B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16171 {source="MONDO:mim2gene_medgen"} ! CHMP4B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16171 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16171 {source="OMIM:605387"} [Term] id: MONDO:0011548 @@ -260604,8 +259652,8 @@ xref: UMLS:C4551976 {source="MEDGEN:1644234", source="MONDO:equivalentTo", sourc is_a: MONDO:0003037 {source="DOID:0110698", source="MONDO:Redundant", source="OMIM:605389"} ! hypotrichosis is_a: MONDO:0018914 ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15718 ! APCDD1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15718 {source="MONDO:mim2gene_medgen"} ! APCDD1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15718 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15718 {source="OMIM:605389"} [Term] id: MONDO:0011550 @@ -260656,7 +259704,7 @@ is_a: MONDO:0100064 {source="https://orcid.org/0000-0002-5655-9589"} ! tyrosine intersection_of: MONDO:0016812 ! dopa-responsive dystonia intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:605407", source="Orphanet:101150"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11782 {source="MONDO:mim2gene_medgen"} ! TH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11782 {source="OMIM:605407"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -260694,6 +259742,7 @@ xref: MESH:C565329 {source="MONDO:equivalentTo"} xref: OMIM:605428 {source="MONDO:equivalentTo", source="DOID:0110484"} xref: UMLS:C1854275 {source="MEDGEN:340185", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:605428", source="DOID:0110484", source="OMIM:605428"} ! hearing loss, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4066 {source="OMIM:605428"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -260710,6 +259759,7 @@ synonym: "Dfnb26, suppressor of" RELATED [OMIM:605429] synonym: "DFNB26M" RELATED ABBREVIATION [OMIM:605429] synonym: "DFNM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605429] xref: OMIM:605429 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24248 {source="OMIM:605429"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI is_obsolete: true @@ -260837,7 +259887,6 @@ xref: Orphanet:99961 {source="DOID:0070232", source="OMIM:605479", source="MONDO xref: UMLS:C2608083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:435857"} is_a: MONDO:0003847 {source="DOID:0070232"} ! hereditary disease is_a: MONDO:0019008 {source="DOID:0070232", source="OMIM:605479", source="Orphanet:99961"} ! benign recurrent intrahepatic cholestasis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/42 {source="MONDO:mim2gene_medgen"} ! ABCB11 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10029/benign-recurrent-intrahepatic-cholestasis-2" xsd:anyURI {source="GARD:0010029"} [Term] @@ -260902,7 +259951,6 @@ xref: UMLS:C1854182 {source="MEDGEN:381361", source="MONDO:equivalentTo", source is_a: MONDO:0005180 {source="DOID:0060895/inferred", source="MESH:C565324", source="MONDO:Redundant", source="OMIM:605543"} ! Parkinson disease is_a: MONDO:0008199 {source="DOID:0060895", source="Orphanet:411602"} ! late-onset Parkinson disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11138 {source="MONDO:mim2gene_medgen"} ! SNCA [Term] id: MONDO:0011563 @@ -260970,7 +260018,6 @@ xref: SCTID:237602007 {source="MONDO:equivalentTo", source="DOID:14221"} xref: UMLS:C4552048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640883"} is_a: MONDO:0000816 {source="DC-OMIM:605552", source="DOID:14221", source="OMIM:605552"} ! abdominal obesity-metabolic syndrome is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7467 {source="MONDO:mim2gene_medgen"} ! MTTP [Term] id: MONDO:0011566 @@ -261033,8 +260080,8 @@ xref: Orphanet:90635 {source="OMIM:605583"} xref: UMLS:C1854158 {source="MEDGEN:344221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019587 {source="DC-OMIM:605583", source="DOID:0110555", source="MONDO:Redundant", source="OMIM:605583"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20151 ! SLC17A8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20151 {source="MONDO:mim2gene_medgen"} ! SLC17A8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20151 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20151 {source="OMIM:605583"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -261080,7 +260127,6 @@ is_a: MONDO:0018993 {source="DOID:0110156", source="MONDO:Redundant"} ! Charcot- is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 ! LMNA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8548/charcot-marie-tooth-disease-type-2b1" xsd:anyURI {source="GARD:0008548"} @@ -261129,7 +260175,6 @@ is_a: MONDO:0018993 {source="DOID:0110179", source="MONDO:Redundant"} ! Charcot- intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28845 ! MED25 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011570 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28845 {source="MONDO:mim2gene_medgen"} ! MED25 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1249/charcot-marie-tooth-disease-type-2b2" xsd:anyURI {source="GARD:0001249"} @@ -261152,7 +260197,6 @@ xref: OMIM:605594 {source="MONDO:equivalentTo"} xref: Orphanet:166260 {source="OMIM:605594"} xref: UMLS:C1854146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340145"} is_a: MONDO:0007441 {source="Orphanet:166260/btnt"} ! dentinogenesis imperfecta type 2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3054 {source="MONDO:mim2gene_medgen"} ! DSPP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -261187,7 +260231,6 @@ xref: OMIM:605606 {source="MONDO:equivalentTo"} xref: UMLS:C1854124 {source="MEDGEN:343057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100171 {source="OMIM:605606"} ! psoriasis, susceptibility to relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19100 {source="MONDO:mim2gene_medgen"} ! IL23R relationship: predisposes_towards MONDO:0005083 {source="DC-OMIM:605606", source="OMIM:605606"} ! psoriasis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -261280,7 +260323,7 @@ xref: UMLS:C1854106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0007827 {source="MESH:C565311"} ! inclusion body myositis is_a: MONDO:0019952 {source="DOID:0080719", source="OMIM:605637"} ! congenital myopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011577 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7572 {source="MONDO:mim2gene_medgen"} ! MYH2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7572 {source="OMIM:605637"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -261334,7 +260377,7 @@ xref: SCTID:719431007 {source="MONDO:equivalentTo"} xref: UMLS:C1854065 {source="MEDGEN:344198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004580 {source="DOID:0060869", source="MESH:C565309", source="MONDO:Redundant", source="MONDO:indirect"} ! retinal degeneration is_a: MONDO:0019118 {source="Orphanet:67042"} ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14344 {source="MONDO:mim2gene_medgen"} ! C1QTNF5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14344 {source="OMIM:605670"} [Term] id: MONDO:0011580 @@ -261403,7 +260446,6 @@ relationship: disease_has_major_feature HP:0002224 {source="Orphanet:65282"} ! W relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:65282", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy relationship: excluded_subClassOf MONDO:0017672 {source="MONDO:0020097-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! focal palmoplantar keratoderma relationship: excluded_subClassOf MONDO:0018558 {source="Orphanet:65282", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with wooly hair -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 {source="MONDO:mim2gene_medgen"} ! DSP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1120" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5595/cardiomyopathy-dilated-with-woolly-hair-and-keratoderma" xsd:anyURI {source="GARD:0005595"} @@ -261434,8 +260476,8 @@ xref: Orphanet:401869 {source="OMIM:605711", source="MONDO:equivalentTo"} xref: UMLS:C3276432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:478062"} is_a: MONDO:0017338 {source="DOID:0080133", source="MONDO:Redundant", source="OMIM:605711", source="Orphanet:401869"} ! fatal multiple mitochondrial dysfunctions syndrome intersection_of: MONDO:0017338 ! fatal multiple mitochondrial dysfunctions syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16287 ! NFU1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16287 {source="MONDO:mim2gene_medgen"} ! NFU1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16287 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16287 {source="OMIM:605711"} [Term] id: MONDO:0011583 @@ -261469,7 +260511,6 @@ xref: Orphanet:324723 {source="OMIM:605714"} xref: Orphanet:85458 {source="OMIM:605714"} xref: UMLS:C2751536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414044"} is_a: MONDO:0005620 {source="DC-OMIM:605714", source="DOID:0070028"} ! cerebral amyloid angiopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/620 {source="MONDO:mim2gene_medgen"} ! APP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -261500,7 +260541,6 @@ xref: SCTID:766707003 {source="MONDO:equivalentTo"} xref: UMLS:C1838457 {source="MEDGEN:325420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019391 {source="DC-OMIM:605724", source="DOID:0111089", source="MESH:C563980", source="NCIT:C125705", source="OMIM:605724"} ! Fanconi anemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011584 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1101 {source="MONDO:mim2gene_medgen"} ! BRCA2 [Term] id: MONDO:0011585 @@ -261695,7 +260735,6 @@ xref: Orphanet:306 {source="OMIM:605751"} xref: UMLS:C1853995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381313"} is_a: MONDO:0017615 {source="DC-OMIM:605751", source="DOID:0081115", source="OMIM:605751"} ! benign familial infantile epilepsy is_a: MONDO:0100556 {source="PMID:33746883", source="https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/#references"} ! PRRT2-associated paroxysmal movement disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30500 {source="OMIM:605751"} ! PRRT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6461" xsd:anyURI [Term] @@ -261766,7 +260805,6 @@ intersection_of: predisposes_towards MONDO:0004980 ! atopic eczema relationship: excluded_subClassOf MONDO:0003847 {source="MESH:C565293/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: excluded_subClassOf MONDO:0004980 {source="DC-OMIM:605803", source="DOID:0110098", source="MONDO:Redundant", source="OMIM:605803", source="https://orcid.org/0000-0001-5208-3432"} ! atopic eczema relationship: excluded_subClassOf MONDO:0013295 {source="OMIM:605803", source="https://orcid.org/0000-0001-5208-3432"} ! dermatitis, atopic, 9 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3748 {source="MONDO:mim2gene_medgen"} ! FLG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -261872,7 +260910,6 @@ is_a: MONDO:0018940 {source="DOID:0110678", source="MONDO:Redundant", source="OM is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome is_a: MONDO:1040021 {source="https://orcid.org/0000-0002-9698-992X"} ! congenital myasthenic syndrome 4 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1966 {source="MONDO:mim2gene_medgen"} ! CHRNE property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -261905,7 +260942,6 @@ xref: Orphanet:247598 {source="MONDO:equivalentTo", source="OMIM:605814"} xref: SCTID:717155003 {source="MONDO:equivalentTo"} xref: UMLS:C1853942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340091"} is_a: MONDO:0016602 {source="Orphanet:247598"} ! citrin deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10983 {source="MONDO:mim2gene_medgen"} ! SLC25A13 [Term] id: MONDO:0011602 @@ -261980,7 +261016,6 @@ is_a: MONDO:0016112 {source="Orphanet:602"} ! hereditary inclusion-body myopathy is_a: MONDO:0017749 {source="Orphanet:602"} ! disorder of multiple glycosylation is_a: MONDO:0018795 {source="Orphanet:602"} ! syndromic constitutional thrombocytopenia relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23657 {source="MONDO:mim2gene_medgen"} ! GNE [Term] id: MONDO:0011604 @@ -262007,7 +261042,6 @@ is_a: MONDO:0020247 {source="Orphanet:85194"} ! congenital vitreoretinal dysplas is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. relationship: disease_has_feature HP:0004349 {source="Orphanet:85194"} ! Reduced bone mineral density relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:85194", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15517 {source="MONDO:mim2gene_medgen"} ! XYLT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -262142,7 +261176,7 @@ intersection_of: disease_has_basis_in_disruption_of GO:0047865 ! dimethylglycine relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011610 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0047865 ! dimethylglycine dehydrogenase activity relationship: excluded_subClassOf MONDO:0019239 {source="Orphanet:243343", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of serine family metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24475 {source="MONDO:mim2gene_medgen"} ! DMGDH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24475 {source="OMIM:605850"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -262229,8 +261263,8 @@ xref: UMLS:C1853833 {source="MEDGEN:342982", source="MONDO:equivalentTo", source is_a: MONDO:0005180 {source="DOID:0060369/inferred", source="MESH:C565276", source="MONDO:Redundant", source="OMIM:605909"} ! Parkinson disease is_a: MONDO:0017279 {source="DOID:0060369"} ! young-onset Parkinson disease intersection_of: MONDO:0005180 ! Parkinson disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14581 ! PINK1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14581 {source="MONDO:mim2gene_medgen"} ! PINK1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14581 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14581 {source="OMIM:605909"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -262264,7 +261298,7 @@ xref: SCTID:725286002 {source="MONDO:equivalentTo"} xref: UMLS:C2751532 {source="MEDGEN:414399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017713 {source="Orphanet:35701"} ! disorder of fatty acid oxidation and ketogenesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011614 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5008 {source="MONDO:mim2gene_medgen"} ! HMGCS2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5008 {source="OMIM:605911"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -262410,6 +261444,7 @@ xref: MEDGEN:397793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:605990 {source="MONDO:equivalentTo"} xref: UMLS:C2700426 {source="MEDGEN:397793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:605990"} ! inherited disease susceptibility +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18194 {source="OMIM:605990"} relationship: predisposes_towards MONDO:0008171 ! nephrolithiasis [Term] @@ -262445,7 +261480,7 @@ xref: Orphanet:101028 {source="MONDO:equivalentTo", source="OMIM:606003"} xref: SCTID:124252008 {source="MONDO:equivalentTo"} xref: UMLS:C1291329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224855"} is_a: MONDO:0019231 {source="Orphanet:101028", source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11559 {source="MONDO:mim2gene_medgen"} ! TALDO1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11559 {source="OMIM:606003"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10445/transaldolase-deficiency" xsd:anyURI {source="GARD:0010445"} @@ -262500,6 +261535,7 @@ xref: OMIM:606053 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:606053"} xref: UMLS:C1853755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340048"} is_a: MONDO:0020836 {source="OMIM:606053"} ! autism, susceptiblity to +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11590 {source="OMIM:606053"} relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -262592,7 +261628,7 @@ is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenita is_a: MONDO:0017740 {source="Orphanet:79330"} ! disorder of protein N-glycosylation relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011629 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24862 {source="MONDO:mim2gene_medgen"} ! MOGS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24862 {source="OMIM:606056"} [Term] id: MONDO:0011630 @@ -262615,8 +261651,8 @@ xref: OMIM:606068 {source="MONDO:equivalentTo", source="DOID:0110365"} xref: UMLS:C1419614 {source="MEDGEN:244030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019200 {source="DC-OMIM:606068", source="DOID:0110365", source="MONDO:Redundant", source="OMIM:606068"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25808 ! FAM161A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25808 {source="MONDO:mim2gene_medgen"} ! FAM161A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25808 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25808 {source="OMIM:606068"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10394/retinitis-pigmentosa-28" xsd:anyURI {source="GARD:0010394"} [Term] @@ -262652,8 +261688,8 @@ xref: SCTID:719975002 {source="MONDO:equivalentTo"} xref: UMLS:C1853733 {source="MONDO:equivalentTo", source="MEDGEN:340044", source="MONDO:MEDGEN"} is_a: MONDO:0006507 {source="DOID:0111028", source="MESH:C537249", source="MONDO:Redundant", source="OMIM:606069", source="Orphanet:139491"} ! hereditary hemochromatosis intersection_of: MONDO:0006507 ! hereditary hemochromatosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10909 ! SLC40A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10909 {source="MONDO:mim2gene_medgen"} ! SLC40A1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10909 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10909 {source="OMIM:606069"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4" xsd:anyURI {source="GARD:0010094"} [Term] @@ -262683,9 +261719,9 @@ xref: Orphanet:803 {source="OMIM:606070"} xref: UMLS:C3807521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813851"} is_a: MONDO:0005144 {source="DC-OMIM:606070", source="DOID:0060212", source="MONDO:Redundant", source="OMIM:606070"} ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6912 ! MATR3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6912 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011632 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6912 {source="MONDO:mim2gene_medgen"} ! MATR3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6912 {source="OMIM:606070"} [Term] id: MONDO:0011633 @@ -262729,7 +261765,6 @@ is_a: MONDO:0015626 {source="DOID:0110182/inferred", source="MONDO:Redundant", s is_a: MONDO:0018993 {source="DOID:0110182", source="MONDO:Redundant", source="Orphanet:99937"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 ! TRPV4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1250/charcot-marie-tooth-disease-type-2c" xsd:anyURI {source="GARD:0001250"} [Term] @@ -262834,7 +261869,6 @@ xref: UMLS:C1853578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015548 {source="Orphanet:157846"} ! Huntington disease-like syndrome is_a: MONDO:0017763 {source="Orphanet:157846"} ! disorder of iron metabolism and transport is_a: MONDO:0018307 {source="DC-OMIM:606159", source="DOID:0110737", source="OMIM:606159", source="Orphanet:157846"} ! neurodegeneration with brain iron accumulation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3999 {source="MONDO:mim2gene_medgen"} ! FTL [Term] id: MONDO:0011639 @@ -262860,8 +261894,8 @@ xref: Orphanet:124 {source="OMIM:606164"} xref: UMLS:C4225411 {source="MEDGEN:902755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015253 {source="DOID:0111894", source="MONDO:Redundant", source="OMIM:606164"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10418 ! RPS28 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10418 {source="MONDO:mim2gene_medgen"} ! RPS28 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10418 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10418 {source="OMIM:606164"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -262896,7 +261930,6 @@ is_a: MONDO:0015159 {source="Orphanet:85201"} ! multiple congenital anomalies/dy is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:85201", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17582 {source="MONDO:mim2gene_medgen"} ! KAT6B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -263068,7 +262101,6 @@ xref: UMLS:C1853508 {source="MEDGEN:381193", source="MONDO:equivalentTo", source intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14630 ! CRELD1 intersection_of: predisposes_towards MONDO:0020290 ! familial atrioventricular septal defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14630 {source="MONDO:mim2gene_medgen"} ! CRELD1 [Term] id: MONDO:0011651 @@ -263081,6 +262113,7 @@ xref: MESH:C565248 {source="MONDO:equivalentTo"} xref: OMIM:606220 {source="MONDO:equivalentTo"} xref: UMLS:C1853507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342897"} is_a: MONDO:0003847 {source="MESH:C565248/inferred"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13599 {source="OMIM:606220"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -263121,7 +262154,6 @@ xref: SCTID:699310000 {source="MONDO:equivalentTo"} xref: UMLS:C1853490 {source="MEDGEN:339994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0022760 {source="Orphanet:48652"} ! chromosome 22q deletion relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011652 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14294 {source="MONDO:mim2gene_medgen"} ! SHANK3 [Term] id: MONDO:0011653 @@ -263204,7 +262236,7 @@ xref: UMLS:C0206657 {source="MEDGEN:61652", source="MONDO:equivalentTo", source= is_a: MONDO:0005089 {source="DC-OMIM:606243", source="EFO:0007143", source="MESH:D018234", source="MONDO:Redundant", source="NCIT:C3750/inferred", source="NCIT:C7943/inferred"} ! sarcoma is_a: MONDO:0018078 {source="NCIT:C3750", source="NCIT:C7943/inferred", source="Orphanet:163699"} ! soft tissue sarcoma relationship: excluded_subClassOf MONDO:0002847 {source="DOID:4239", source="https://orcid.org/0000-0001-5208-3432"} ! skeletal muscle cancer -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13825 {source="MONDO:mim2gene_medgen"} ! ASPSCR1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13825 {source="OMIM:606243"} property_value: IAO:0000589 "alveolar soft part sarcoma (disease)" xsd:string [Term] @@ -263269,8 +262301,8 @@ xref: UMLS:C1853445 {source="MEDGEN:344049", source="MONDO:equivalentTo", source is_a: MONDO:0005180 {source="DOID:0060370/inferred", source="MESH:C565238", source="MONDO:Redundant", source="OMIM:606324"} ! Parkinson disease is_a: MONDO:0017279 {source="DOID:0060370"} ! young-onset Parkinson disease intersection_of: MONDO:0005180 ! Parkinson disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16369 ! PARK7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16369 {source="MONDO:mim2gene_medgen"} ! PARK7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16369 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16369 {source="OMIM:606324"} [Term] id: MONDO:0011659 @@ -263318,7 +262350,6 @@ xref: UMLS:C2931767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019587 {source="DC-OMIM:606346", source="DOID:0110552", source="MONDO:Redundant", source="OMIM:606346"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7605 ! MYO6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7605 {source="MONDO:mim2gene_medgen"} ! MYO6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -263387,7 +262418,6 @@ xref: Orphanet:247604 {source="MONDO:equivalentTo", source="OMIM:606353"} xref: SCTID:717964007 {source="MONDO:equivalentTo"} xref: UMLS:C1853396 {source="MEDGEN:342870", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018155 {source="DC-OMIM:606353"} ! lateral sclerosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/443 {source="MONDO:mim2gene_medgen"} ! ALS2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4485/juvenile-primary-lateral-sclerosis" xsd:anyURI {source="GARD:0004485"} [Term] @@ -263417,7 +262447,6 @@ xref: OMIM:606367 {source="Orphanet:169100/e", source="MONDO:equivalentTo", sour xref: Orphanet:169100 {source="MONDO:equivalentTo", source="OMIM:606367"} xref: UMLS:C1853392 {source="MEDGEN:377894", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:606367", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6008 {source="MONDO:mim2gene_medgen"} ! IL2RA [Term] id: MONDO:0011665 @@ -263464,7 +262493,6 @@ xref: UMLS:C1833382 {source="MEDGEN:318863", source="MONDO:equivalentTo", source is_a: MONDO:0018911 {source="DC-OMIM:606392", source="DOID:0111103", source="MONDO:Redundant"} ! maturity-onset diabetes of the young intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6107 ! PDX1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6107 {source="MONDO:mim2gene_medgen"} ! PDX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10659/maturity-onset-diabetes-of-the-young-type-4" xsd:anyURI {source="GARD:0010659"} @@ -263501,7 +262529,6 @@ xref: UMLS:C1853371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018911 {source="DC-OMIM:606394", source="DOID:0111104", source="MONDO:Redundant"} ! maturity-onset diabetes of the young intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7762 ! NEUROD1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7762 {source="MONDO:mim2gene_medgen"} ! NEUROD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10660/maturity-onset-diabetes-of-the-young-type-6" xsd:anyURI {source="GARD:0010660"} @@ -263582,7 +262609,6 @@ xref: Orphanet:230839 {source="MONDO:equivalentTo", source="OMIM:606408"} xref: UMLS:C1848029 {source="MEDGEN:336244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="MONDO:0011670/inferred", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease is_a: MONDO:0020066 {source="DOID:0080731", source="MESH:C536193", source="OMIM:606408", source="Orphanet:230839"} ! Ehlers-Danlos syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11976 {source="MONDO:mim2gene_medgen"} ! TNXB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -263609,7 +262635,7 @@ xref: Orphanet:98934 {source="OMIM:606438", source="MONDO:equivalentTo", source= xref: SCTID:721228006 {source="MONDO:equivalentTo"} xref: UMLS:C1847987 {source="MEDGEN:341120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016987 {source="Orphanet:98934"} ! neuroacanthocytosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14203 {source="MONDO:mim2gene_medgen"} ! JPH3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14203 {source="OMIM:606438"} [Term] id: MONDO:0011672 @@ -263632,7 +262658,6 @@ xref: Orphanet:300324 {source="OMIM:606445", source="MONDO:equivalentTo"} xref: SCTID:763864008 {source="MONDO:equivalentTo"} xref: UMLS:C1847973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341117"} is_a: MONDO:0015757 {source="Orphanet:300324"} ! lymphoid hemopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16393 {source="MONDO:mim2gene_medgen"} ! CARD11 [Term] id: MONDO:0011673 @@ -263701,7 +262726,6 @@ is_a: MONDO:0015626 {source="DOID:0110197/inferred", source="MONDO:Redundant", s is_a: MONDO:0019548 {source="Orphanet:100044", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2974 ! DNM2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2974 {source="MONDO:mim2gene_medgen"} ! DNM2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -263735,6 +262759,7 @@ xref: SCTID:765744006 {source="MONDO:equivalentTo"} xref: UMLS:C5561933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794143"} is_a: MONDO:0015626 {source="DOID:0110202/inferred", source="MESH:C564702", source="MONDO:Redundant", source="OMIM:606483", source="Orphanet:100043/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0019548 {source="Orphanet:100043", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4181 {source="OMIM:606483"} [Term] id: MONDO:0011676 @@ -263853,10 +262878,10 @@ is_a: MONDO:0017267 {source="Orphanet:281122/btnt"} ! self-healing collodion bab is_a: MONDO:0017778 {source="Orphanet:313/btnt"} ! lamellar ichthyosis is_a: MONDO:0019306 {source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13743 ! ALOXE3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13743 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:606545"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13743 {source="MONDO:mim2gene_medgen"} ! ALOXE3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13743 {source="OMIM:606545"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -263941,7 +262966,6 @@ xref: UMLS:C1847836 {source="MEDGEN:338324", source="MONDO:equivalentTo", source is_a: MONDO:0018910 {source="DC-OMIM:606574", source="DOID:0070098", source="MESH:C564696", source="MONDO:Redundant", source="OMIM:606574", source="Orphanet:79435"} ! oculocutaneous albinism intersection_of: MONDO:0018910 ! oculocutaneous albinism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16472 ! SLC45A2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16472 {source="MONDO:mim2gene_medgen"} ! SLC45A2 [Term] id: MONDO:0011684 @@ -263958,7 +262982,6 @@ xref: Orphanet:247871 {source="MONDO:relatedTo", source="OMIM:606579"} xref: Orphanet:3435 {source="OMIM:606579"} xref: UMLS:C1847835 {source="MEDGEN:335788", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:606579"} ! inherited disease susceptibility -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14374 {source="MONDO:mim2gene_medgen"} ! NLRP1 relationship: predisposes_towards MONDO:0007179 {source="OMIM:606579"} ! autoimmune disease [Term] @@ -263973,7 +262996,7 @@ xref: OMIM:606581 {source="MONDO:equivalentTo"} xref: UMLS:C1847831 {source="MEDGEN:339856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:606581"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:606581", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3553 {source="MONDO:mim2gene_medgen"} ! FAAH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3553 {source="OMIM:606581"} relationship: predisposes_towards MONDO:0005303 {source="OMIM:606581"} ! drug dependence property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -264008,7 +263031,6 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: disease_has_feature HP:0001510 ! Growth delay relationship: disease_has_feature HP:0002721 ! Immunodeficiency relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:99812", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6601 {source="MONDO:mim2gene_medgen"} ! LIG4 [Term] id: MONDO:0011687 @@ -264047,7 +263069,6 @@ is_a: MONDO:0018993 {source="DOID:0110163", source="MONDO:Redundant", source="Or intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5246 ! HSPB1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011687 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5246 {source="MONDO:mim2gene_medgen"} ! HSPB1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9194/charcot-marie-tooth-disease-type-2f" xsd:anyURI {source="GARD:0009194"} [Term] @@ -264078,7 +263099,6 @@ xref: Orphanet:52428 {source="DOID:0110635", source="OMIM:606612", source="MONDO xref: UMLS:C1847759 {source="MEDGEN:335764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000172 {source="DC-OMIM:606612", source="DOID:0110635", source="OMIM:606612"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0700066 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKRP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17997 {source="MONDO:mim2gene_medgen"} ! FKRP [Term] id: MONDO:0011689 @@ -264271,7 +263291,7 @@ xref: UMLS:C1847720 {source="MEDGEN:338300", source="MONDO:equivalentTo", source is_a: MONDO:0000351 {source="DOID:0111037"} ! disorder of methionine catabolism is_a: MONDO:0019222 {source="Orphanet:289891"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011698 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4415 {source="MONDO:mim2gene_medgen"} ! GNMT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4415 {source="OMIM:606664"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10764/glycine-n-methyltransferase-deficiency" xsd:anyURI {source="GARD:0010764"} [Term] @@ -264344,7 +263364,6 @@ xref: OMIM:606685 {source="DOID:0110436", source="MONDO:equivalentTo"} xref: UMLS:C1847667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335735"} is_a: MONDO:0016144 ! qualitative or quantitative defects of delta-sarcoglycan is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:606685"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10807 {source="MONDO:mim2gene_medgen"} ! SGCD [Term] id: MONDO:0011703 @@ -264360,7 +263379,6 @@ xref: UMLS:C1847650 {source="MEDGEN:339812", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="MESH:C564678/inferred", source="MONDO:Redundant"} ! hereditary disease is_a: MONDO:0005429 {source="MESH:C564678", source="MONDO:Redundant"} ! prion disease is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9449 {source="MONDO:mim2gene_medgen"} ! PRNP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI [Term] @@ -264446,7 +263464,6 @@ is_a: MONDO:0005180 {source="DOID:0060556/inferred", source="MONDO:Redundant", s is_a: MONDO:0018307 {source="Orphanet:306674"} ! neurodegeneration with brain iron accumulation is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011706 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30213 {source="MONDO:mim2gene_medgen"} ! ATP13A2 [Term] id: MONDO:0011707 @@ -264481,7 +263498,6 @@ xref: UMLS:C1847626 {source="MEDGEN:376173", source="MONDO:equivalentTo", source is_a: MONDO:0019587 {source="DC-OMIM:606705", source="DOID:0110563", source="MONDO:Redundant", source="OMIM:606705"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16513 ! TMC1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16513 {source="MONDO:mim2gene_medgen"} ! TMC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -264555,8 +263571,8 @@ xref: Orphanet:888 {source="OMIM:606713"} xref: UMLS:C1847604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338272"} is_a: MONDO:0019508 {source="DC-OMIM:606713", source="MONDO:Redundant"} ! van der Woude syndrome intersection_of: MONDO:0019508 ! van der Woude syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25839 ! GRHL3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25839 {source="MONDO:mim2gene_medgen"} ! GRHL3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25839 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25839 {source="OMIM:606713"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7846/van-der-woude-syndrome-2" xsd:anyURI {source="GARD:0007846"} [Term] @@ -264578,7 +263594,6 @@ xref: UMLS:C1838547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018453 {source="Orphanet:404560/btnt"} ! familial atypical multiple mole melanoma syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011713 {source="MONDO:CLINGEN"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1787 {source="MONDO:mim2gene_medgen"} ! CDKN2A [Term] id: MONDO:0011714 @@ -264594,7 +263609,6 @@ xref: MEDGEN:813897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606721 {source="MONDO:equivalentTo"} xref: UMLS:C3807567 {source="MEDGEN:813897", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1527 {source="MONDO:mim2gene_medgen"} ! CAV1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -264623,7 +263637,6 @@ is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender b intersection_of: MONDO:0019342 ! Seckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9891 ! RBBP8 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:606744"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9891 {source="MONDO:mim2gene_medgen"} ! RBBP8 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -264695,7 +263708,7 @@ is_a: MONDO:0005803 {source="DC-OMIM:606762"} ! hyperinsulinemic hypoglycemia is_a: MONDO:0015624 {source="Orphanet:35878"} ! diazoxide-sensitive diffuse hyperinsulinism is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011717 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4335 {source="MONDO:mim2gene_medgen"} ! GLUD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4335 {source="OMIM:606762"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9931/hyperinsulinism-hyperammonemia-syndrome" xsd:anyURI {source="GARD:0009931"} @@ -264725,9 +263738,9 @@ xref: Orphanet:244 {source="OMIM:606763"} xref: UMLS:C1847554 {source="MEDGEN:338258", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:606763", source="DOID:0110626", source="MESH:C535277", source="MESH:C535277/inferred", source="MONDO:Redundant", source="OMIM:606763"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30492 ! DNAAF3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30492 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011718 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30492 {source="MONDO:mim2gene_medgen"} ! DNAAF3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30492 {source="OMIM:606763"} [Term] id: MONDO:0011719 @@ -264796,9 +263809,9 @@ xref: UMLS:C4721889 {source="MEDGEN:1648302", source="MONDO:equivalentTo", sourc is_a: MONDO:0004983 {source="DC-OMIM:606766", source="DOID:0070168", source="MESH:C564665", source="MONDO:Redundant", source="OMIM:606766"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14468 ! SLC26A8 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14468 ! SLC26A8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14468 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14468 {source="MONDO:mim2gene_medgen"} ! SLC26A8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14468 {source="MONDO:mim2gene_medgen"} ! SLC26A8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14468 {source="OMIM:606766"} [Term] id: MONDO:0011721 @@ -264823,7 +263836,6 @@ xref: Orphanet:178400 {source="OMIM:606768", source="MONDO:equivalentTo"} xref: UMLS:C1847532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335706"} is_a: MONDO:0016145 {source="Orphanet:178400"} ! qualitative or quantitative defects of dysferlin is_a: MONDO:0018949 {source="DC-OMIM:606768", source="DOID:0111187", source="MONDO:Redundant", source="OMIM:606768", source="Orphanet:178400/inferred"} ! distal myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3097 {source="MONDO:mim2gene_medgen"} ! DYSF [Term] id: MONDO:0011722 @@ -264957,7 +263969,6 @@ xref: SCTID:68067009 {source="MONDO:equivalentTo"} xref: UMLS:C2931132 {source="MEDGEN:419718", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002408 {source="MESH:C536213/inferred", source="MONDO:0011725/inferred", source="MONDO:Redundant", source="OMIM:606785"} ! hereditary hyperbilirubinemia is_a: MONDO:0009044 {source="MESH:C536213", source="Orphanet:79235"} ! Crigler-Najjar syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12530 {source="MONDO:mim2gene_medgen"} ! UGT1A1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8683/crigler-najjar-syndrome-type-2" xsd:anyURI {source="GARD:0008683"} [Term] @@ -264989,7 +264000,6 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5293 ! HTR2A intersection_of: predisposes_towards MONDO:0005351 ! anorexia nervosa relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5293 {source="MONDO:mim2gene_medgen"} ! HTR2A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI [Term] @@ -265029,7 +264039,6 @@ xref: OMIM:606799 {source="MONDO:equivalentTo"} xref: UMLS:C1847482 {source="MEDGEN:335696", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:606799", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8783 {source="MONDO:mim2gene_medgen"} ! PDE4D relationship: predisposes_towards MONDO:0005098 {source="OMIM:606799"} ! stroke disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -265061,7 +264070,6 @@ xref: UMLS:C0342770 {source="MEDGEN:87458", source="MONDO:equivalentTo", source= is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0016790 {source="Orphanet:24"} ! tricarboxylic acid cycle disorder is_a: MONDO:0020127 ! hereditary peripheral neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3700 {source="MONDO:mim2gene_medgen"} ! FH [Term] id: MONDO:0011731 @@ -265098,7 +264106,7 @@ is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive is_a: MONDO:0005020 {source="https://orcid.org/0000-0002-3458-4839"} ! intestinal disorder is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption is_a: MONDO:0019226 {source="Orphanet:35710"} ! glucose transport disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11036 {source="MONDO:mim2gene_medgen"} ! SLC5A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11036 {source="OMIM:606824"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption" xsd:anyURI {source="GARD:0006521"} @@ -265126,7 +264134,6 @@ xref: Orphanet:85169 {source="OMIM:606835", source="MONDO:equivalentTo"} xref: UMLS:C1847406 {source="MEDGEN:335678", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018240 {source="Orphanet:85169", source="PMID:31633310"} ! TRPV4-related bone disorder is_a: MONDO:0019054 ! congenital limb malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -265184,9 +264191,9 @@ xref: Orphanet:183663 {source="OMIM:606843"} xref: UMLS:C1720957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328419"} is_a: MONDO:0003947 {source="DOID:0060023", source="MONDO:Redundant", source="OMIM:606843"} ! hyper-IgM syndrome intersection_of: MONDO:0003947 ! hyper-IgM syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11919 ! CD40 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11919 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011735 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11919 {source="MONDO:mim2gene_medgen"} ! CD40 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11919 {source="OMIM:606843"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10579/immunodeficiency-with-hyper-igm-type-3" xsd:anyURI {source="GARD:0010579"} [Term] @@ -265244,7 +264251,6 @@ xref: Orphanet:268940 {source="OMIM:606854"} xref: UMLS:C1847352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376107"} is_a: MONDO:0017091 {source="Orphanet:101070"} ! bilateral polymicrogyria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011738 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4512 {source="MONDO:mim2gene_medgen"} ! ADGRG1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6756" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria" xsd:anyURI {source="GARD:0010784"} @@ -265266,9 +264272,9 @@ xref: OMIM:606856 {source="MONDO:equivalentTo"} xref: Orphanet:1333 {source="OMIM:606856"} xref: UMLS:C1847351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339739"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17068 ! PALLD +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17068 intersection_of: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17068 {source="MONDO:mim2gene_medgen", source="OMIM:606856"} ! PALLD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17068 {source="OMIM:606856"} [Term] id: MONDO:0011740 @@ -265382,7 +264388,7 @@ xref: Orphanet:140436 {source="MONDO:equivalentTo", source="OMIM:606893"} xref: SCTID:764100007 {source="MONDO:equivalentTo"} xref: UMLS:C1847197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376071"} is_a: MONDO:0016223 {source="Orphanet:140436"} ! infantile hemangioma of rare localization -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17233 {source="MONDO:mim2gene_medgen"} ! ELMO2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17233 {source="OMIM:606893"} [Term] id: MONDO:0011745 @@ -265448,9 +264454,9 @@ xref: UMLS:C1847089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0010168 {source="DOID:0110834", source="Orphanet:231169"} ! Usher syndrome type 1 is_a: MONDO:0019501 {source="DOID:0110834/inferred", source="MESH:C564643", source="MONDO:Redundant", source="OMIM:606943"} ! Usher syndrome intersection_of: MONDO:0019501 ! Usher syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16356 ! USH1G +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16356 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:606943"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16356 {source="MONDO:mim2gene_medgen"} ! USH1G +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16356 {source="OMIM:606943"} [Term] id: MONDO:0011749 @@ -265487,7 +264493,6 @@ xref: Orphanet:79434 {source="OMIM:606952", source="MONDO:equivalentTo"} xref: UMLS:C1847024 {source="MONDO:equivalentTo", source="MEDGEN:337712", source="MONDO:MEDGEN"} is_a: MONDO:0018135 {source="Orphanet:79434"} ! oculocutaneous albinism type 1 is_a: MONDO:0018910 {source="DOID:0070095", source="MESH:C537729", source="MONDO:Redundant", source="OMIM:606952", source="Orphanet:79434/inferred"} ! oculocutaneous albinism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12442 {source="MONDO:mim2gene_medgen"} ! TYR property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/594/oculocutaneous-albinism-type-1b" xsd:anyURI {source="GARD:0000594"} [Term] @@ -265540,7 +264545,6 @@ intersection_of: MONDO:0019005 ! nephronophthisis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19104 ! NPHP4 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011752 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:606966"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19104 {source="MONDO:mim2gene_medgen"} ! NPHP4 [Term] id: MONDO:0011753 @@ -265620,7 +264624,6 @@ is_a: MONDO:0017842 {source="DC-OMIM:606996", source="MONDO:Redundant", source=" intersection_of: MONDO:0017842 ! Senior-Loken syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19104 ! NPHP4 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:606996"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19104 {source="MONDO:mim2gene_medgen"} ! NPHP4 [Term] id: MONDO:0011757 @@ -265678,7 +264681,6 @@ is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with sk disjoint_from: MONDO:0011759 ! Hurler-Scheie syndrome relationship: disease_has_basis_in_disruption_of GO:0003940 ! L-iduronidase activity relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5391 {source="MONDO:mim2gene_medgen"} ! IDUA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -265723,7 +264725,6 @@ is_a: MONDO:0001586 {source="DOID:0111389", source="NCIT:C122782", source="Orpha is_a: MONDO:0002254 {source="NCIT:C122782"} ! syndromic disease is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement disjoint_from: MONDO:0011760 ! Scheie syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5391 {source="MONDO:mim2gene_medgen"} ! IDUA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -265763,7 +264764,6 @@ xref: UMLS:C0026708 {source="MEDGEN:6453", source="MONDO:equivalentTo", source=" is_a: MONDO:0001586 {source="DOID:0060222", source="NCIT:C61265", source="Orphanet:93474"} ! mucopolysaccharidosis type 1 is_a: MONDO:0002254 {source="NCIT:C61265"} ! syndromic disease is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5391 {source="MONDO:mim2gene_medgen"} ! IDUA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome" xsd:anyURI {source="GARD:0012561"} @@ -265815,8 +264815,8 @@ xref: OMIM:607039 {source="DOID:0110480", source="MONDO:equivalentTo"} xref: UMLS:C1846896 {source="MEDGEN:339636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:607039", source="DOID:0110480", source="MONDO:Redundant", source="OMIM:607039"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16378 ! OTOA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16378 {source="MONDO:mim2gene_medgen"} ! OTOA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16378 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16378 {source="OMIM:607039"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -265852,9 +264852,9 @@ xref: UMLS:C1846862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005180 {source="DOID:0060371/inferred", source="MONDO:Redundant", source="OMIM:607060"} ! Parkinson disease is_a: MONDO:0008199 {source="DOID:0060371", source="Orphanet:411602"} ! late-onset Parkinson disease intersection_of: MONDO:0005180 ! Parkinson disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18618 ! LRRK2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18618 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18618 {source="MONDO:mim2gene_medgen"} ! LRRK2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18618 {source="OMIM:607060"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -265894,7 +264894,6 @@ xref: UMLS:C1846843 {source="MEDGEN:335542", source="MONDO:equivalentTo", source is_a: MONDO:0016648 {source="DC-OMIM:607078", source="DOID:0070299", source="MONDO:Redundant", source="OMIM:607078", source="Orphanet:93311"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6909 ! MATN3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6909 {source="MONDO:mim2gene_medgen"} ! MATN3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -265919,7 +264918,6 @@ xref: UMLS:C5436061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0010765 {source="MESH:C567773"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0020040 ! 46,XY disorder of sex development -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2865 {source="MONDO:mim2gene_medgen"} ! DHH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -265949,7 +264947,6 @@ xref: UMLS:C1846839 {source="MEDGEN:339621", source="MONDO:equivalentTo", source is_a: MONDO:0019588 {source="DC-OMIM:607084", source="DOID:0110490", source="MONDO:Redundant", source="OMIM:607084"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16361 ! WHRN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16361 {source="MONDO:mim2gene_medgen"} ! WHRN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -266067,7 +265064,6 @@ is_a: MONDO:0017749 {source="Orphanet:79332"} ! disorder of multiple glycosylati is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/924 {source="MONDO:mim2gene_medgen"} ! B4GALT1 [Term] id: MONDO:0011773 @@ -266130,7 +265126,6 @@ xref: UMLS:C1846784 {source="MEDGEN:335521", source="MONDO:equivalentTo", source is_a: MONDO:0019588 {source="DC-OMIM:607101", source="DOID:0110489", source="MONDO:Redundant", source="OMIM:607101"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7601 ! MYO3A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7601 {source="MONDO:mim2gene_medgen"} ! MYO3A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -266159,7 +265154,6 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11998 ! TP53 intersection_of: predisposes_towards MONDO:0015459 ! nasopharyngeal carcinoma relationship: excluded_subClassOf MONDO:0015459 {source="OMIM:607107", source="https://orcid.org/0000-0001-5208-3432"} ! nasopharyngeal carcinoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11998 {source="MONDO:mim2gene_medgen"} ! TP53 relationship: predisposes_towards MONDO:0015459 {source="OMIM:607107"} ! nasopharyngeal carcinoma property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -266211,7 +265205,6 @@ is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculosk is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C116380"} ! syndromic disease is_a: MONDO:0016168 {source="Orphanet:1451"} ! cryopyrin-associated periodic syndrome is_a: MONDO:0019751 {source="Orphanet:1451/inferred", source="PMID:23827249"} ! autoinflammatory syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16400 {source="MONDO:mim2gene_medgen"} ! NLRP3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -266266,7 +265259,6 @@ xref: SCTID:719688002 {source="MONDO:equivalentTo"} xref: UMLS:C1846722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335505"} is_a: MONDO:0016648 {source="Orphanet:166024"} ! multiple epiphyseal dysplasia is_a: MONDO:0800463 {source="https://clinicalgenome.org/affiliation/40060/"} ! KIF7-related ciliopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30497 {source="MONDO:mim2gene_medgen"} ! KIF7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI [Term] @@ -266339,7 +265331,6 @@ is_a: MONDO:0005395 ! movement disorder is_a: MONDO:0015548 {source="Orphanet:98759"} ! Huntington disease-like syndrome is_a: MONDO:0019792 {source="Orphanet:98759"} ! autosomal dominant cerebellar ataxia type I relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11588 {source="MONDO:mim2gene_medgen"} ! TBP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3805" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4444" xsd:anyURI @@ -266401,7 +265392,7 @@ is_a: MONDO:0015286 {source="MESH:C535745", source="MONDO:0011783/inferred", sou is_a: MONDO:0017740 {source="Orphanet:79324"} ! disorder of protein N-glycosylation relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011783 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19358 {source="MONDO:mim2gene_medgen"} ! ALG12 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19358 {source="OMIM:607143"} [Term] id: MONDO:0011784 @@ -266425,8 +265416,8 @@ xref: Orphanet:2573 {source="OMIM:607151"} xref: UMLS:C1846689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339584"} is_a: MONDO:0016820 {source="DC-OMIM:607151", source="MESH:C536992", source="MONDO:Redundant", source="OMIM:607151"} ! Moyamoya disease intersection_of: MONDO:0016820 ! Moyamoya disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14539 ! RNF213 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14539 {source="MONDO:mim2gene_medgen"} ! RNF213 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14539 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14539 {source="OMIM:607151"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -266535,7 +265526,6 @@ is_a: MONDO:0700066 {source="https://clinicalgenome.org/affiliation/50061/"} ! m intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17997 ! FKRP relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17997 {source="MONDO:mim2gene_medgen"} ! FKRP [Term] id: MONDO:0011788 @@ -266618,7 +265608,6 @@ xref: SCTID:702437000 {source="MONDO:equivalentTo"} xref: UMLS:C1846648 {source="MEDGEN:375938", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000152 {source="DC-OMIM:607196", source="OMIM:607196"} ! thiamine-responsive dysfunction syndrome is_a: MONDO:0001149 {source="OMIM:607196"} ! microcephaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14409 {source="MONDO:mim2gene_medgen"} ! SLC25A19 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6445" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly" xsd:anyURI {source="GARD:0008606"} @@ -266651,8 +265640,8 @@ xref: Orphanet:95716 {source="OMIM:607200"} xref: UMLS:C1846632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375935"} is_a: MONDO:0010132 {source="DOID:0112189", source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13273 ! DUOX2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13273 {source="MONDO:mim2gene_medgen"} ! DUOX2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13273 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13273 {source="OMIM:607200"} [Term] id: MONDO:0011793 @@ -266745,7 +265734,6 @@ xref: SCTID:703543005 {source="MONDO:equivalentTo"} xref: UMLS:C2931441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419413"} is_a: MONDO:0020128 {source="Orphanet:293168", source="Orphanet:293168/inferred"} ! motor neuron disorder relationship: has_characteristic HP:0003593 ! Infantile onset -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/443 {source="MONDO:mim2gene_medgen"} ! ALS2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4914/infantile-onset-ascending-hereditary-spastic-paralysis" xsd:anyURI {source="GARD:0004914"} [Term] @@ -266759,7 +265747,6 @@ xref: OMIM:607236 {source="MONDO:equivalentObsolete"} xref: Orphanet:157855 {source="MONDO:equivalentObsolete", source="OMIM:607236"} xref: UMLS:C1846582 {source="MEDGEN:337612", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="MESH:C564603/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15894 {source="MONDO:mim2gene_medgen"} ! PANK2 [Term] id: MONDO:0011799 @@ -266830,7 +265817,7 @@ xref: UMLS:C4759870 {source="MONDO:equivalentTo", source="MEDGEN:1683470", sourc is_a: MONDO:0015244 {source="Orphanet:94124"} ! autosomal recessive cerebellar ataxia is_a: MONDO:0020127 {source="Orphanet:94124"} ! hereditary peripheral neuropathy is_a: MONDO:0020771 {source="OMIM:607250"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18884 {source="MONDO:mim2gene_medgen", source="OMIM:607250"} ! TDP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18884 {source="OMIM:607250"} [Term] id: MONDO:0011802 @@ -266884,8 +265871,8 @@ is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0019064 {source="DOID:0110816", source="MONDO:Redundant", source="OMIM:607259", source="Orphanet:99013/inferred"} ! hereditary spastic paraplegia is_a: MONDO:0100309 {source="Orphanet:99013"} ! hereditary ataxia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11237 ! SPG7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11237 {source="MONDO:mim2gene_medgen"} ! SPG7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11237 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11237 {source="OMIM:607259"} [Term] id: MONDO:0011804 @@ -266923,7 +265910,6 @@ xref: UMLS:C1846545 {source="MEDGEN:339548", source="MONDO:equivalentTo", source is_a: MONDO:0017979 {source="DC-OMIM:607271", source="DOID:0110116", source="MONDO:Redundant"} ! autoimmune lymphoproliferative syndrome intersection_of: MONDO:0017979 ! autoimmune lymphoproliferative syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1509 ! CASP8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1509 {source="MONDO:mim2gene_medgen"} ! CASP8 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -266943,8 +265929,8 @@ xref: OMIM:607277 {source="MONDO:equivalentTo"} xref: UMLS:C1846534 {source="MEDGEN:339547", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010940 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! inherited susceptibility to asthma intersection_of: MONDO:0010940 ! inherited susceptibility to asthma -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9591 ! PTGDR -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9591 {source="MONDO:mim2gene_medgen"} ! PTGDR +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9591 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9591 {source="OMIM:607277"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -266976,7 +265962,6 @@ xref: Orphanet:488265 {source="MONDO:equivalentTo"} xref: UMLS:C4085248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895748"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018230 {source="Orphanet:488265"} ! skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7029 {source="MONDO:mim2gene_medgen"} ! MET property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -267089,6 +266074,7 @@ xref: OMIM:607317 {source="Orphanet:95434", source="MONDO:equivalentTo", source= xref: Orphanet:95434 {source="OMIM:607317", source="MONDO:equivalentTo"} xref: UMLS:C1846492 {source="MEDGEN:335442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020047 {source="Orphanet:95434"} ! autosomal recessive syndromic cerebellar ataxia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23595 {source="OMIM:607317"} [Term] id: MONDO:0011812 @@ -267128,7 +266114,6 @@ is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defe relationship: disease_has_feature HP:0000486 ! Strabismus relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:607323", source="Orphanet:93293", source="Orphanet:959"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15924 {source="MONDO:mim2gene_medgen"} ! SALL4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9182/duane-radial-ray-syndrome" xsd:anyURI {source="GARD:0009182"} @@ -267175,7 +266160,6 @@ xref: UMLS:C3888088 {source="MEDGEN:854757", source="MONDO:equivalentTo", source is_a: MONDO:0015799 {source="DC-OMIM:607326", source="DOID:0081270", source="MONDO:Redundant", source="OMIM:607326"} ! Smith-McCort dysplasia intersection_of: MONDO:0015799 ! Smith-McCort dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21317 ! DYM -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21317 {source="MONDO:mim2gene_medgen"} ! DYM property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -267218,7 +266202,7 @@ xref: SCTID:719257008 {source="MONDO:equivalentTo"} xref: UMLS:C1846421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375885"} is_a: MONDO:0019240 {source="Orphanet:46059"} ! sterol biosynthesis disorder relationship: disease_has_basis_in_disruption_of GO:0033490 ! cholesterol biosynthetic process via lathosterol -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10547 {source="MONDO:mim2gene_medgen"} ! SC5D +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10547 {source="OMIM:607330"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9711/lathosterolosis" xsd:anyURI {source="GARD:0009711"} [Term] @@ -267242,7 +266226,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0005010 ! coronary artery disorder relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: excluded_subClassOf MONDO:0005010 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! coronary artery disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2558 {source="MONDO:mim2gene_medgen"} ! CX3CR1 relationship: predisposes_towards MONDO:0005010 {source="OMIM:607339"} ! coronary artery disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -267322,7 +266305,6 @@ xref: Orphanet:98772 {source="MONDO:equivalentTo", source="OMIM:607346"} xref: SCTID:719251009 {source="MONDO:equivalentTo"} xref: UMLS:C1846367 {source="MEDGEN:339504", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019792 {source="Orphanet:98772"} ! autosomal dominant cerebellar ataxia type I -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6239 {source="MONDO:mim2gene_medgen"} ! KCND3 [Term] id: MONDO:0011820 @@ -267364,7 +266346,6 @@ is_a: MONDO:0018921 {source="DC-OMIM:607361", source="DOID:0070117", source="MON is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism intersection_of: MONDO:0018921 ! Meckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28396 ! TMEM67 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28396 {source="MONDO:mim2gene_medgen"} ! TMEM67 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8744/meckel-syndrome-type-3" xsd:anyURI {source="GARD:0008744"} @@ -267397,7 +266378,6 @@ xref: Orphanet:93605 {source="MONDO:equivalentTo", source="OMIM:607364"} xref: SCTID:700111000 {source="MONDO:equivalentTo"} xref: UMLS:C1846343 {source="MEDGEN:335399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015231 {source="DC-OMIM:607364", source="DOID:0110144", source="OMIM:607364", source="Orphanet:93605"} ! Bartter syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2027 {source="MONDO:mim2gene_medgen"} ! CLCNKB [Term] id: MONDO:0011823 @@ -267423,7 +266403,6 @@ xref: UMLS:C5848323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015161 {source="Orphanet:79107"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:79107", source="Orphanet:79107/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0044807 {source="MONDO:0018265-obsoleted"} ! inherited dystonia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/132 {source="MONDO:mim2gene_medgen"} ! ACTB property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9818/juvenile-onset-dystonia" xsd:anyURI {source="GARD:0009818"} [Term] @@ -267475,8 +266454,8 @@ xref: Orphanet:361 {source="OMIM:607398"} xref: UMLS:C4049714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:891117"} is_a: MONDO:0008733 {source="MONDO:Redundant", source="OMIM:607398", source="Orphanet:361/btnt"} ! familial glucocorticoid deficiency intersection_of: MONDO:0008733 ! familial glucocorticoid deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1304 ! MRAP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1304 {source="MONDO:mim2gene_medgen"} ! MRAP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1304 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1304 {source="OMIM:607398"} [Term] id: MONDO:0011827 @@ -267537,8 +266516,8 @@ xref: OMIM:607417 {source="MONDO:equivalentTo"} xref: UMLS:C1843942 {source="MEDGEN:334541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DC-OMIM:607417", source="DOID:0081178", source="MONDO:Redundant", source="OMIM:607417"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30185 ! CRBN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30185 {source="MONDO:mim2gene_medgen"} ! CRBN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30185 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30185 {source="OMIM:607417"} [Term] id: MONDO:0011829 @@ -267565,7 +266544,6 @@ xref: UMLS:C3551954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018151 {source="DOID:0070238", source="MONDO:Redundant", source="OMIM:607426"} ! coenzyme Q10 deficiency intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25223 ! COQ2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25223 {source="MONDO:mim2gene_medgen"} ! COQ2 [Term] id: MONDO:0011830 @@ -267595,7 +266573,6 @@ xref: Orphanet:99796 {source="MONDO:relatedTo", source="OMIM:607432"} xref: UMLS:C4749301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1657090"} is_a: MONDO:0015146 {source="Orphanet:95232"} ! classic lissencephaly is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:607432", source="Orphanet:95232/inferred"} ! lissencephaly spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8574 {source="MONDO:mim2gene_medgen"} ! PAFAH1B1 [Term] id: MONDO:0011831 @@ -267625,7 +266602,6 @@ xref: UMLS:C1843896 {source="MEDGEN:336069", source="MONDO:equivalentTo", source is_a: MONDO:0016342 {source="DOID:0110076", source="MESH:C564400", source="MONDO:Redundant", source="OMIM:607450", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 ! DSP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 {source="MONDO:mim2gene_medgen"} ! DSP [Term] id: MONDO:0011832 @@ -267652,8 +266628,8 @@ xref: Orphanet:90635 {source="OMIM:607453"} xref: UMLS:C1843895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334525"} is_a: MONDO:0019587 {source="DC-OMIM:607453", source="DOID:0110569", source="MONDO:Redundant", source="OMIM:607453"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18111 ! CCDC50 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18111 {source="MONDO:mim2gene_medgen"} ! CCDC50 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18111 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18111 {source="OMIM:607453"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -267681,7 +266657,7 @@ xref: Orphanet:98773 {source="MONDO:equivalentTo", source="OMIM:607454"} xref: SCTID:718774001 {source="MONDO:equivalentTo"} xref: UMLS:C1843891 {source="MEDGEN:375311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019792 {source="Orphanet:98773"} ! autosomal dominant cerebellar ataxia type I -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25186 {source="MONDO:mim2gene_medgen"} ! TMEM240 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25186 {source="OMIM:607454"} [Term] id: MONDO:0011834 @@ -267753,7 +266729,6 @@ is_a: MONDO:0016798 {source="Orphanet:70595"} ! ataxia neuropathy spectrum is_a: MONDO:0020127 ! hereditary peripheral neuropathy is_a: MONDO:0100033 ! metabolic epilepsy relationship: excluded_subClassOf MONDO:0020074 {source="DC-OMIM:613832", source="Orphanet:402082", source="https://orcid.org/0000-0001-5208-3432"} ! progressive myoclonus epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20340 {source="MONDO:mim2gene_medgen"} ! PRICKLE2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -267780,7 +266755,6 @@ xref: SCTID:423158009 {source="DOID:8161", source="MONDO:equivalentTo"} xref: UMLS:C0749424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:196672"} is_a: MONDO:0005034 {source="DOID:8161"} ! thyroid gland follicular carcinoma is_a: MONDO:0015447 {source="Orphanet:146/btnt"} ! differentiated thyroid carcinoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17194 {source="MONDO:mim2gene_medgen"} ! NDUFA13 [Term] id: MONDO:0011837 @@ -267806,7 +266780,6 @@ is_a: MONDO:0015722 {source="DOID:0112174", source="MONDO:Redundant", source="OM intersection_of: MONDO:0015722 ! congenital vitamin K-dependent coagulation factors deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23663 ! VKORC1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011837 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23663 {source="MONDO:mim2gene_medgen"} ! VKORC1 [Term] id: MONDO:0011838 @@ -267834,7 +266807,6 @@ xref: SCTID:715647007 {source="MONDO:equivalentTo"} xref: UMLS:C1843816 {source="MEDGEN:334499", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019118 {source="DOID:0050683", source="Orphanet:85128"} ! inherited retinal dystrophy is_a: MONDO:0100444 {source="https://clinicalgenome.org/affiliation/40072/"} ! RLBP1-related retinopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10024 {source="MONDO:mim2gene_medgen"} ! RLBP1 [Term] id: MONDO:0011839 @@ -267856,7 +266828,6 @@ is_a: MONDO:0015993 {source="DC-OMIM:607476", source="DOID:0111015", source="MON is_a: MONDO:0100444 {source="https://clinicalgenome.org/affiliation/40072/"} ! RLBP1-related retinopathy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10024 ! RLBP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10024 {source="MONDO:mim2gene_medgen"} ! RLBP1 [Term] id: MONDO:0011840 @@ -267879,7 +266850,6 @@ xref: MESH:C564390 {source="MONDO:equivalentTo"} xref: OMIM:607482 {source="DOID:0110449", source="MONDO:equivalentTo"} xref: UMLS:C1843808 {source="MEDGEN:334498", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:607482"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2472 {source="MONDO:mim2gene_medgen"} ! CSRP3 [Term] id: MONDO:0011841 @@ -267920,7 +266890,7 @@ intersection_of: disease_responds_to CHEBI:15956 ! biotin relationship: disease_responds_to CHEBI:26948 ! vitamin B1 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:199348", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16266 {source="MONDO:mim2gene_medgen"} ! SLC19A3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16266 {source="OMIM:607483"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4205" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -267947,7 +266917,6 @@ xref: Orphanet:282 {source="DOID:0060672", source="OMIM:607485"} xref: UMLS:C1843792 {source="MEDGEN:375285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017276 {source="DOID:0060672"} ! frontotemporal dementia is_a: MONDO:0019806 ! primary progressive aphasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4601 {source="MONDO:mim2gene_medgen"} ! GRN [Term] id: MONDO:0011843 @@ -267977,7 +266946,6 @@ is_a: MONDO:0016192 ! qualitative or quantitative defects of telethonin is_a: MONDO:0024573 {source="DOID:0110328", source="MONDO:OMIM", source="OMIM:607487"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11610 ! TCAP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11610 {source="MONDO:mim2gene_medgen"} ! TCAP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -268036,7 +267004,6 @@ intersection_of: MONDO:0020573 {source="MONDO:mim2gene_medgen"} ! inherited dise intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1033 {source="MONDO:mim2gene_medgen"} ! BDNF intersection_of: predisposes_towards MONDO:0005452 {source="MONDO:mim2gene_medgen"} ! bulimia nervosa relationship: excluded_subClassOf MONDO:0005452 {source="DC-OMIM:607499", source="https://orcid.org/0000-0001-5208-3432"} ! bulimia nervosa -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1033 {source="MONDO:mim2gene_medgen"} ! BDNF property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1705" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -268165,7 +267132,6 @@ is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease is_a: MONDO:0019284 {source="DC-OMIM:607523", source="DOID:0080086", source="MONDO:Redundant", source="OMIM:607523"} ! inherited isolated nail anomaly intersection_of: MONDO:0019284 ! inherited isolated nail anomaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 ! COL7A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1 [Term] id: MONDO:0011853 @@ -268180,7 +267146,6 @@ xref: MESH:C564383 {source="MONDO:equivalentTo"} xref: OMIM:607539 {source="MONDO:equivalentTo"} xref: UMLS:C1843758 {source="MEDGEN:375276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/35126 {source="MONDO:mim2gene_medgen"} ! BHLHA9 [Term] id: MONDO:0011854 @@ -268230,7 +267195,6 @@ xref: SCTID:397568004 {source="DOID:0060444", source="MONDO:equivalentTo"} xref: UMLS:C1275685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220900"} is_a: MONDO:0000764 {source="DOID:0060444"} ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0020213 {source="Orphanet:98963"} ! stromal corneal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 {source="MONDO:mim2gene_medgen"} ! TGFBI [Term] id: MONDO:0011856 @@ -268273,7 +267237,6 @@ xref: UMLS:C1837014 {source="MEDGEN:373232", source="MONDO:equivalentTo", source is_a: MONDO:0018054 {source="DC-OMIM:607554", source="MONDO:Redundant", source="OMIM:607554"} ! familial atrial fibrillation intersection_of: MONDO:0018054 ! familial atrial fibrillation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6294 ! KCNQ1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6294 {source="MONDO:mim2gene_medgen"} ! KCNQ1 [Term] id: MONDO:0011858 @@ -268307,7 +267270,6 @@ xref: Orphanet:548 {source="OMIM:607572"} xref: UMLS:C1843632 {source="MEDGEN:334455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:607572", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0005124 {source="DC-OMIM:607572", source="https://orcid.org/0000-0001-5208-3432"} ! leprosy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8607 {source="MONDO:mim2gene_medgen"} ! PRKN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2760" xsd:anyURI [Term] @@ -268379,7 +267341,7 @@ xref: Orphanet:1572 {source="OMIM:607594"} xref: UMLS:C3149378 {source="MEDGEN:460728", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015517 {source="DC-OMIM:607594", source="DOID:0081144", source="OMIM:607594"} ! common variable immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011864 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5351 {source="MONDO:mim2gene_medgen"} ! ICOS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5351 {source="OMIM:607594"} [Term] id: MONDO:0011865 @@ -268412,7 +267374,6 @@ is_a: MONDO:0016396 {source="DOID:0060265", source="Orphanet:2254/btnt"} ! ponto is_a: MONDO:0020135 {source="DOID:0060265", source="MONDO:Redundant", source="OMIM:607596"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12718 ! VRK1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12718 {source="MONDO:mim2gene_medgen"} ! VRK1 [Term] id: MONDO:0011867 @@ -268458,7 +267419,6 @@ is_a: MONDO:0015161 {source="Orphanet:137776"} ! multiple congenital anomalies/d is_a: MONDO:0017436 {source="DC-OMIM:607598", source="DOID:0060560", source="MONDO:Redundant", source="OMIM:607598", source="Orphanet:137776"} ! lethal congenital contracture syndrome intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3431 ! ERBB3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3431 {source="MONDO:mim2gene_medgen"} ! ERBB3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9177/lethal-congenital-contracture-syndrome-2" xsd:anyURI {source="GARD:0009177"} @@ -268546,7 +267506,6 @@ is_a: MONDO:0017014 ! interstitial lung disease specific to childhood is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0100464 {source="https://clinicalgenome.org/affiliation/40110/"} ! acid sphingomyelinase deficiency relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:607616", source="Orphanet:77293"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11120 {source="MONDO:mim2gene_medgen"} ! SMPD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4984" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10729/niemann-pick-disease-type-b" xsd:anyURI {source="GARD:0010729"} @@ -268591,9 +267550,9 @@ is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.co is_a: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis is_a: MONDO:0018306 {source="DC-OMIM:607624", source="DOID:0060833", source="MONDO:Redundant", source="OMIM:607624", source="Orphanet:79477"} ! Griscelli syndrome intersection_of: MONDO:0018306 ! Griscelli syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9766 ! RAB27A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9766 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011872 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9766 {source="MONDO:mim2gene_medgen"} ! RAB27A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9766 {source="OMIM:607624"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2" xsd:anyURI {source="GARD:0004483"} [Term] @@ -268621,7 +267580,7 @@ is_a: MONDO:0001982 {source="DOID:0070114", source="MESH:C536119/inferred", sour is_a: MONDO:0018982 {source="MESH:C536119", source="Orphanet:646/btnt"} ! Niemann-Pick disease type C relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011873 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:607625"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14537 {source="MONDO:mim2gene_medgen"} ! NPC2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14537 {source="OMIM:607625"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3992/niemann-pick-disease-type-c2" xsd:anyURI {source="GARD:0003992"} [Term] @@ -268654,7 +267613,7 @@ is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="htt is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0015947 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited ichthyosis is_a: MONDO:0018646 {source="Orphanet:59303"} ! sclerosing cholangitis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2032 {source="MONDO:mim2gene_medgen"} ! CLDN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2032 {source="OMIM:607626"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -268687,7 +267646,6 @@ intersection_of: predisposes_towards MONDO:0005579 ! epilepsy, idiopathic genera relationship: excluded_subClassOf MONDO:0005579 {source="OMIM:607628", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized relationship: excluded_subClassOf MONDO:0009696 {source="OMIM:607628", source="https://orcid.org/0000-0001-5208-3432"} ! juvenile myoclonic epilepsy relationship: excluded_subClassOf MONDO:0011876 {source="OMIM:607628", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete juvenile absence epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2020 {source="MONDO:mim2gene_medgen"} ! CLCN2 relationship: predisposes_towards MONDO:0005579 {source="OMIM:607628"} ! epilepsy, idiopathic generalized property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI @@ -268733,7 +267691,6 @@ is_a: MONDO:0020645 {source="OMIM:607634"} ! autosomal dominant osteopetrosis intersection_of: MONDO:0017198 ! osteopetrosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 ! LRP5 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 {source="MONDO:mim2gene_medgen"} ! LRP5 [Term] id: MONDO:0011878 @@ -268770,7 +267727,6 @@ is_a: MONDO:0015355 {source="Orphanet:139589/btnt"} ! distal hereditary motor ne is_a: MONDO:0018894 {source="DC-OMIM:607641", source="MONDO:Redundant"} ! distal hereditary motor neuropathy intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2711 ! DCTN1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2711 {source="MONDO:mim2gene_medgen"} ! DCTN1 [Term] id: MONDO:0011880 @@ -268814,7 +267770,6 @@ xref: UMLS:C2931123 {source="MEDGEN:418996", source="MONDO:equivalentTo", source is_a: MONDO:0018865 {source="DOID:0081110", source="MONDO:Redundant", source="Orphanet:50942/btnt"} ! striate palmoplantar keratoderma intersection_of: MONDO:0018865 ! striate palmoplantar keratoderma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6412 ! KRT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6412 {source="MONDO:mim2gene_medgen"} ! KRT1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9173/keratosis-palmoplantaris-striata-3" xsd:anyURI {source="GARD:0009173"} [Term] @@ -268841,7 +267796,6 @@ xref: UMLS:C4755263 {source="MEDGEN:1659950", source="MONDO:equivalentTo", sourc is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:607655", source="Orphanet:293165"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 {source="MONDO:mim2gene_medgen"} ! DSP property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5231/skin-fragility-woolly-hair-palmoplantar-keratoderma-syndrome" xsd:anyURI {source="GARD:0005231"} [Term] @@ -268995,7 +267949,7 @@ xref: OMIM:607676 {source="Orphanet:70592", source="MONDO:equivalentTo", source= xref: Orphanet:70592 {source="MONDO:equivalentTo", source="OMIM:607676"} xref: UMLS:C1843256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375137"} is_a: MONDO:0021094 {source="OMIM:607676"} ! immunodeficiency disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17967 {source="MONDO:mim2gene_medgen"} ! IRAK4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17967 {source="OMIM:607676"} [Term] id: MONDO:0011889 @@ -269026,7 +267980,6 @@ xref: SCTID:717013009 {source="MONDO:equivalentTo"} xref: UMLS:C3888087 {source="MONDO:equivalentTo", source="MEDGEN:854756", source="MONDO:MEDGEN"} is_a: MONDO:0015626 {source="DOID:0110158/inferred", source="MONDO:Redundant", source="OMIM:607677", source="Orphanet:99942/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018993 {source="DOID:0110158", source="Orphanet:99942"} ! Charcot-Marie-Tooth disease type 2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7225 {source="MONDO:mim2gene_medgen"} ! MPZ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9197/charcot-marie-tooth-disease-type-2i" xsd:anyURI {source="GARD:0009197"} @@ -269067,7 +268020,6 @@ is_a: MONDO:0015626 {source="DOID:0110150/inferred", source="MESH:C537985", sour is_a: MONDO:0019011 {source="DOID:0110150", source="MONDO:Redundant", source="Orphanet:101084"} ! Charcot-Marie-Tooth disease type 1 intersection_of: MONDO:0019011 ! Charcot-Marie-Tooth disease type 1 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3239 ! EGR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3239 {source="MONDO:mim2gene_medgen"} ! EGR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9189/charcot-marie-tooth-disease-type-1d" xsd:anyURI {source="GARD:0009189"} @@ -269108,7 +268060,6 @@ is_a: MONDO:0018214 {source="DC-OMIM:611277", source="MONDO:Redundant", source=" intersection_of: MONDO:0000032 ! febrile seizures, familial intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4087 ! GABRG2 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4087 {source="MONDO:mim2gene_medgen"} ! GABRG2 [Term] id: MONDO:0011892 @@ -269197,7 +268148,6 @@ is_a: MONDO:0015626 {source="DOID:0110165/inferred", source="MESH:C537994", sour is_a: MONDO:0018993 {source="DOID:0110165", source="MONDO:Redundant", source="Orphanet:99939"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7739 ! NEFL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7739 {source="MONDO:mim2gene_medgen"} ! NEFL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9193/charcot-marie-tooth-disease-type-2e" xsd:anyURI {source="GARD:0009193"} @@ -269223,7 +268173,6 @@ xref: UMLS:C0206141 {source="MONDO:equivalentTo", source="MEDGEN:61525", source= is_a: MONDO:0015691 {source="Orphanet:3260"} ! hypereosinophilic syndrome intersection_of: MONDO:0015691 ! hypereosinophilic syndrome intersection_of: has_characteristic MONDO:0700005 ! idiopathic -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8803 {source="MONDO:mim2gene_medgen"} ! PDGFRA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -269243,12 +268192,12 @@ xref: OMIM:607688 {source="MONDO:equivalentTo"} xref: Orphanet:411602 {source="OMIM:607688"} xref: UMLS:C4083045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:896658"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11960 ! GIGYF2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11960 intersection_of: predisposes_towards MONDO:0008199 ! late-onset Parkinson disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: excluded_subClassOf MONDO:0005180 {source="MESH:C564345", source="OMIM:607688", source="https://orcid.org/0000-0001-5208-3432"} ! Parkinson disease relationship: excluded_subClassOf MONDO:0008199 {source="Orphanet:411602/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! late-onset Parkinson disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11960 {source="MONDO:mim2gene_medgen"} ! GIGYF2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11960 {source="OMIM:607688"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -269293,7 +268242,6 @@ xref: Orphanet:88637 {source="MONDO:relatedTo", source="OMIM:607694"} xref: SCTID:721846006 {source="MONDO:equivalentTo"} xref: UMLS:C2676243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390993"} is_a: MONDO:0019046 {source="DOID:0060794", source="DOID:0060794/inferred", source="MONDO:Redundant", source="OMIM:607694", source="Orphanet:137639/inferred"} ! leukodystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30074 {source="MONDO:mim2gene_medgen"} ! POLR3A [Term] id: MONDO:0011898 @@ -269310,7 +268258,6 @@ xref: OMIM:607706 {source="MONDO:equivalentTo"} xref: Orphanet:101097 {source="OMIM:607706"} xref: UMLS:C1843183 {source="MEDGEN:375113", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:607706", source="OMIM:607706/inferred"} ! Charcot-Marie-Tooth disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15968 {source="MONDO:mim2gene_medgen"} ! GDAP1 [Term] id: MONDO:0011899 @@ -269438,7 +268385,6 @@ is_a: MONDO:0015626 {source="DOID:0110149/inferred", source="MESH:C537987", sour is_a: MONDO:0019011 {source="DOID:0110149", source="MONDO:Redundant", source="Orphanet:101085"} ! Charcot-Marie-Tooth disease type 1 intersection_of: MONDO:0019011 ! Charcot-Marie-Tooth disease type 1 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7739 ! NEFL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7739 {source="MONDO:mim2gene_medgen"} ! NEFL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9191/charcot-marie-tooth-disease-type-1f" xsd:anyURI {source="GARD:0009191"} @@ -269474,7 +268420,6 @@ xref: SCTID:717014003 {source="MONDO:equivalentTo"} xref: UMLS:C1843153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375107"} is_a: MONDO:0015626 {source="DOID:0110157/inferred", source="MESH:C535417", source="MONDO:Redundant", source="OMIM:607736", source="Orphanet:99943/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018993 {source="DOID:0110157", source="Orphanet:99943"} ! Charcot-Marie-Tooth disease type 2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7225 {source="MONDO:mim2gene_medgen"} ! MPZ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9198/charcot-marie-tooth-disease-type-2j" xsd:anyURI {source="GARD:0009198"} @@ -269513,7 +268458,6 @@ is_a: MONDO:0015642 {source="MONDO:Redundant", source="Orphanet:140927"} ! benig is_a: MONDO:0017615 {source="DC-OMIM:607745", source="DOID:0081116", source="MONDO:Redundant", source="OMIM:601764", source="OMIM:607745"} ! benign familial infantile epilepsy intersection_of: MONDO:0017615 ! benign familial infantile epilepsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10588 ! SCN2A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10588 {source="MONDO:mim2gene_medgen"} ! SCN2A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4073" xsd:anyURI [Term] @@ -269557,9 +268501,9 @@ xref: Orphanet:79301 {source="OMIM:607765", source="DOID:0111071", source="MONDO xref: UMLS:C1843116 {source="MEDGEN:335883", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018841 {source="DC-OMIM:607765", source="DOID:0111071", source="MONDO:Redundant", source="OMIM:607765", source="Orphanet:79301"} ! congenital bile acid synthesis defect intersection_of: MONDO:0018841 ! congenital bile acid synthesis defect -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18324 ! HSD3B7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18324 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011906 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18324 {source="MONDO:mim2gene_medgen"} ! HSD3B7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18324 {source="OMIM:607765"} [Term] id: MONDO:0011907 @@ -269586,7 +268530,6 @@ xref: SCTID:720416007 {source="MONDO:equivalentTo"} xref: UMLS:C1843096 {source="MEDGEN:334681", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005516 {source="DOID:0050604"} ! osteochondrodysplasia is_a: MONDO:0019695 {source="Orphanet:63446", source="PMID:31633310"} ! acromelic dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5956 {source="MONDO:mim2gene_medgen"} ! IHH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia" xsd:anyURI {source="GARD:0010605"} @@ -269639,10 +268582,7 @@ xref: SCTID:445227008 {source="DOID:0050458", source="MONDO:equivalentTo"} xref: UMLS:C0349639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138109"} is_a: MONDO:0006311 {source="DOID:0050458", source="MONDO:Redundant", source="NCIT:C9233", source="ONCOTREE:JMML"} ! myelodysplastic/myeloproliferative neoplasm is_a: MONDO:0020311 ! chronic myelomonocytic leukemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1541 {source="OMIM:607785"} ! CBL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17073 {source="OMIM:607785"} ! ARHGAP26 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7765 {source="OMIM:607785"} ! NF1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9644 {source="OMIM:607785"} ! PTPN11 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17073 {source="OMIM:607785"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -269681,7 +268621,6 @@ is_a: MONDO:0015626 {source="DOID:0110200/inferred", source="MESH:C564333", sour is_a: MONDO:0019548 {source="Orphanet:100046", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7225 ! MPZ -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7225 {source="MONDO:mim2gene_medgen"} ! MPZ [Term] id: MONDO:0011910 @@ -269723,7 +268662,7 @@ xref: SCTID:725100001 {source="MONDO:equivalentTo"} xref: UMLS:C1843042 {source="MEDGEN:334671", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015161 {source="Orphanet:50814"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="Orphanet:50814", source="Orphanet:50814/inferred"} ! disorder of development or morphogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10701 {source="MONDO:mim2gene_medgen"} ! SEC23A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10701 {source="OMIM:607812"} [Term] id: MONDO:0011912 @@ -269751,7 +268690,6 @@ xref: UMLS:C1843028 {source="MEDGEN:375076", source="MONDO:equivalentTo", source is_a: MONDO:0019588 {source="DC-OMIM:607821", source="DOID:0110495", source="MONDO:Redundant", source="OMIM:607821"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7605 ! MYO6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7605 {source="MONDO:mim2gene_medgen"} ! MYO6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -269794,7 +268732,6 @@ is_a: MONDO:0015140 {source="MONDO:Redundant", source="Orphanet:1020/btnt", sour intersection_of: MONDO:0015140 ! early-onset autosomal dominant Alzheimer disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9508 ! PSEN1 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9508 {source="MONDO:mim2gene_medgen"} ! PSEN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -269813,7 +268750,6 @@ xref: OMIM:607823 {source="MONDO:equivalentTo"} xref: Orphanet:69735 {source="OMIM:607823"} xref: UMLS:C1843004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375070"} is_a: MONDO:0007670 ! hypotrichosis-lymphedema-telangiectasia syndrome (grouping) -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11194 {source="MONDO:mim2gene_medgen"} ! SOX18 [Term] id: MONDO:0011915 @@ -269832,7 +268768,6 @@ xref: MESH:C564326 {source="MONDO:equivalentTo"} xref: OMIM:607829 {source="MONDO:equivalentTo"} xref: UMLS:C1843003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335856"} is_a: MONDO:0008004 {source="MONDO:Redundant", source="OMIM:607829", source="Orphanet:741/btnt"} ! familial mitral valve prolapse -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13681 {source="MONDO:mim2gene_medgen"} ! DCHS1 [Term] id: MONDO:0011916 @@ -269867,6 +268802,7 @@ xref: SCTID:725047007 {source="MONDO:equivalentTo"} xref: UMLS:C1842983 {source="MEDGEN:375064", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015626 {source="DOID:0110167/inferred", source="MONDO:Redundant", source="OMIM:607831", source="Orphanet:101097/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018993 {source="DOID:0110167"} ! Charcot-Marie-Tooth disease type 2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14201 {source="OMIM:607831"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -269886,9 +268822,9 @@ xref: MEDGEN:335850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607832 {source="MONDO:equivalentTo"} xref: UMLS:C1842982 {source="MEDGEN:335850", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14258 ! CD2AP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14258 intersection_of: predisposes_towards MONDO:0005363 ! inherited focal segmental glomerulosclerosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14258 {source="MONDO:mim2gene_medgen"} ! CD2AP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14258 {source="OMIM:607832"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -269904,7 +268840,6 @@ xref: OMIM:607834 {source="MONDO:equivalentTo"} xref: UMLS:C0003467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1613"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005618 ! anxiety disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11050 {source="MONDO:mim2gene_medgen"} ! SLC6A4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -269925,9 +268860,9 @@ xref: OMIM:607836 {source="MONDO:equivalentTo"} xref: Orphanet:247871 {source="OMIM:607836"} xref: UMLS:C1842979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335848"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3804 ! FOXD3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3804 intersection_of: predisposes_towards MONDO:0007179 ! autoimmune disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3804 {source="MONDO:mim2gene_medgen"} ! FOXD3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3804 {source="OMIM:607836"} [Term] id: MONDO:0011920 @@ -269954,7 +268889,6 @@ xref: UMLS:C1842939 {source="MEDGEN:375052", source="MONDO:equivalentTo", source is_a: MONDO:0019587 {source="DC-OMIM:607841", source="DOID:0110571", source="MONDO:Redundant", source="OMIM:607841"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7595 ! MYO1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7595 {source="MONDO:mim2gene_medgen"} ! MYO1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -269977,7 +268911,7 @@ xref: UMLS:C1842937 {source="MEDGEN:375051", source="MONDO:equivalentTo", source is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011921 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10669 {source="MONDO:mim2gene_medgen"} ! TSHZ1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10669 {source="OMIM:607842"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -270002,7 +268936,6 @@ xref: UMLS:C1842930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:607847"} ! hereditary disease relationship: excluded_subClassOf MONDO:0015822 {source="Orphanet:2688", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete acquired neutropenia relationship: has_characteristic MONDO:0700005 {source="OMIM:607847"} ! idiopathic -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4237 {source="MONDO:mim2gene_medgen"} ! GFI1 [Term] id: MONDO:0011923 @@ -270021,7 +268954,6 @@ xref: UMLS:C2675609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14872 ! ASPN intersection_of: predisposes_towards MONDO:0005178 ! osteoarthritis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14872 {source="MONDO:mim2gene_medgen"} ! ASPN [Term] id: MONDO:0011924 @@ -270081,7 +269013,6 @@ is_a: MONDO:0100228 {source="PMID:30055037", source="https://clinicalgenome.org/ intersection_of: MONDO:0019950 ! congenital muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6482 ! LAMA2 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6482 {source="MONDO:mim2gene_medgen"} ! LAMA2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -270165,7 +269096,6 @@ xref: SCTID:71464000 {source="MONDO:equivalentTo"} xref: UMLS:C1842884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335822"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0004335 {source="https://orcid.org/0000-0002-4142-7153"} ! digestive system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/903 {source="MONDO:mim2gene_medgen"} ! AXIN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1164/caudal-duplication" xsd:anyURI {source="GARD:0001164"} @@ -270244,9 +269174,9 @@ xref: Orphanet:86814 {source="OMIM:607876"} xref: UMLS:C1842852 {source="MEDGEN:375031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000160 {source="DC-OMIM:607876", source="DOID:0111692", source="MONDO:Redundant", source="OMIM:607876"} ! epilepsy, familial adult myoclonic intersection_of: MONDO:0000160 ! epilepsy, familial adult myoclonic -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/282 ! ADRA2B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18063 relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/282 {source="MONDO:mim2gene_medgen"} ! ADRA2B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18063 {source="OMIM:607876"} [Term] id: MONDO:0011931 @@ -270295,8 +269225,8 @@ xref: UMLS:C1842839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003037 {source="DOID:0110703", source="MESH:C564312", source="MONDO:Redundant", source="OMIM:607903"} ! hypotrichosis is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21307 ! DSG4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21307 {source="MONDO:mim2gene_medgen"} ! DSG4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21307 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21307 {source="OMIM:607903"} [Term] id: MONDO:0011933 @@ -270334,7 +269264,6 @@ is_a: MONDO:0015286 {source="MONDO:0011933/inferred", source="MONDO:Redundant", is_a: MONDO:0017740 {source="Orphanet:79326"} ! disorder of protein N-glycosylation relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23159 {source="MONDO:mim2gene_medgen"} ! ALG2 [Term] id: MONDO:0011934 @@ -270373,7 +269302,6 @@ xref: UMLS:C3693482 {source="MEDGEN:811326", source="MONDO:equivalentTo", source is_a: MONDO:0000653 {source="MONDO:Redundant", source="MONDO:indirect"} ! integumentary system cancer is_a: MONDO:0005164 {source="DOID:3507"} ! fibrosarcoma relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:31112", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8800 {source="MONDO:mim2gene_medgen"} ! PDGFB property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans" xsd:anyURI {source="GARD:0009569"} [Term] @@ -270398,8 +269326,8 @@ xref: OMIM:607921 {source="DOID:0110406", source="MONDO:equivalentTo"} xref: UMLS:C1842816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334614"} is_a: MONDO:0019200 {source="DC-OMIM:607921", source="DOID:0110406", source="MONDO:Redundant", source="OMIM:607921"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3960 ! FSCN2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3960 {source="MONDO:mim2gene_medgen"} ! FSCN2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3960 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3960 {source="OMIM:607921"} [Term] id: MONDO:0011936 @@ -270433,7 +269361,6 @@ xref: Orphanet:139471 {source="OMIM:607932", source="MONDO:equivalentTo"} xref: SCTID:721878003 {source="MONDO:equivalentTo"} xref: UMLS:C1864689 {source="MONDO:equivalentTo", source="MEDGEN:355268", source="MONDO:MEDGEN"} is_a: MONDO:0016073 {source="DC-OMIM:607932", source="DOID:0111805", source="OMIM:607932", source="Orphanet:139471"} ! syndromic microphthalmia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1071 {source="MONDO:mim2gene_medgen"} ! BMP4 [Term] id: MONDO:0011937 @@ -270459,8 +269386,8 @@ xref: UMLS:C4225407 {source="MEDGEN:895692", source="MONDO:equivalentTo", source is_a: MONDO:0017339 {source="Orphanet:289586/btnt"} ! exfoliative ichthyosis is_a: MONDO:0019347 {source="DC-OMIM:607936", source="DOID:0070523", source="MONDO:Redundant", source="OMIM:607936"} ! peeling skin syndrome intersection_of: MONDO:0019347 ! peeling skin syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2481 ! CSTA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2481 {source="MONDO:mim2gene_medgen"} ! CSTA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2481 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2481 {source="OMIM:607936"} [Term] id: MONDO:0011938 @@ -270485,7 +269412,6 @@ xref: UMLS:C1842778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0006664 {source="DC-OMIM:607941", source="DOID:0110107", source="MESH:C538263", source="MONDO:Redundant", source="OMIM:607941"} ! atrial septal defect intersection_of: MONDO:0006664 ! atrial septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 ! GATA4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 {source="MONDO:mim2gene_medgen"} ! GATA4 [Term] id: MONDO:0011939 @@ -270528,8 +269454,8 @@ is_a: MONDO:0003847 {source="MESH:C564307/inferred"} ! hereditary disease is_a: MONDO:0016763 {source="OMIM:607944", source="Orphanet:1855", source="PMID:31633310"} ! spondylometaphyseal dysplasia is_a: MONDO:0957408 {source="Orphanet:1855", source="PMID:37161741"} ! type 1 interferonopathy of childhood intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/124 ! ACP5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/124 {source="MONDO:mim2gene_medgen"} ! ACP5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/124 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/124 {source="OMIM:607944"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI @@ -270627,7 +269553,6 @@ xref: SCTID:870313002 {source="https://orcid.org/0009-0002-1597-2198", source="M xref: UMLS:C1842704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374996"} is_a: MONDO:0018150 {source="DC-OMIM:608013", source="DOID:0110960", source="MESH:C564306", source="Orphanet:85212"} ! Gaucher disease relationship: disease_has_basis_in_disruption_of GO:0004348 {source="PMID:21502308"} ! glucosylceramidase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4177 {source="MONDO:mim2gene_medgen"} ! GBA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10675/gaucher-disease-perinatal-lethal" xsd:anyURI {source="GARD:0010675"} @@ -270654,7 +269579,7 @@ xref: Orphanet:66637 {source="MONDO:equivalentTo", source="OMIM:608022"} xref: SCTID:721094006 {source="MONDO:equivalentTo"} xref: UMLS:C1842691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374993"} is_a: MONDO:0019694 {source="Orphanet:66637"} ! spondylodysplastic dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24154 {source="MONDO:mim2gene_medgen"} ! BMPER +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24154 {source="OMIM:608022"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -270697,8 +269622,8 @@ xref: SCTID:718609003 {source="MONDO:equivalentTo"} xref: UMLS:C1842687 {source="MONDO:equivalentTo", source="MEDGEN:334225", source="MONDO:MEDGEN"} is_a: MONDO:0020135 {source="DC-OMIM:608027", source="DOID:0060272", source="MONDO:Redundant", source="OMIM:608027", source="Orphanet:97249"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13406 ! PCLO -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13406 {source="MONDO:mim2gene_medgen"} ! PCLO +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13406 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13406 {source="OMIM:608027"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10708/pontocerebellar-hypoplasia-type-3" xsd:anyURI {source="GARD:0010708"} [Term] @@ -270766,7 +269691,6 @@ is_a: MONDO:0017161 {source="Orphanet:275872/btnt"} ! frontotemporal dementia wi intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4010 ! FUS relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011951 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4010 {source="MONDO:mim2gene_medgen"} ! FUS property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9874/amyotrophic-lateral-sclerosis-type-6" xsd:anyURI {source="GARD:0009874"} [Term] @@ -270823,7 +269747,7 @@ is_a: MONDO:0000166 {source="DC-OMIM:608033", source="OMIM:608033"} ! encephalop is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic PATO:0000389 ! acute -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9848 {source="MONDO:mim2gene_medgen"} ! RANBP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9848 {source="OMIM:608033"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI @@ -270902,7 +269826,6 @@ xref: OMIM:608051 {source="MONDO:equivalentTo", source="Orphanet:319640", source xref: Orphanet:319640 {source="OMIM:608051", source="MONDO:equivalentTo"} xref: UMLS:C4749334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1666864"} is_a: MONDO:0031166 {source="DOID:0070517", source="OMIM:608051"} ! macular dystrophy, retinal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 {source="MONDO:mim2gene_medgen"} ! PROM1 [Term] id: MONDO:0011958 @@ -271059,7 +269982,6 @@ is_a: MONDO:0009480 {source="Orphanet:Inferred"} ! Joubert syndrome with oculore is_a: MONDO:0018772 {source="DC-OMIM:608091", source="DOID:0110988", source="MONDO:Redundant", source="OMIM:608091"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25018 ! TMEM216 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25018 {source="MONDO:mim2gene_medgen"} ! TMEM216 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10167/joubert-syndrome-2" xsd:anyURI {source="GARD:0010167"} [Term] @@ -271100,7 +270022,6 @@ is_a: MONDO:0005500 {source="DC-OMIM:608093", source="DOID:0080562", source="OMI is_a: MONDO:0015286 {source="MESH:C535748", source="MONDO:0011964/inferred", source="MONDO:Redundant", source="NCIT:C126874", source="OMIM:608093", source="Orphanet:86309/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:86309"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2995 {source="MONDO:mim2gene_medgen"} ! DPAGT1 [Term] id: MONDO:0011965 @@ -271144,7 +270065,7 @@ xref: Orphanet:2149 {source="OMIM:608097"} xref: Orphanet:98892 {source="OMIM:608097"} xref: UMLS:C1842563 {source="MEDGEN:334110", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020341 {source="DC-OMIM:608097", source="MESH:C564292", source="OMIM:608097"} ! periventricular nodular heterotopia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15853 {source="MONDO:mim2gene_medgen"} ! ARFGEF2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15853 {source="OMIM:608097"} [Term] id: MONDO:0011967 @@ -271203,8 +270124,8 @@ is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0016971 {source="DOID:0110278/inferred", source="MONDO:Redundant", source="NCIT:C142081", source="Orphanet:62/inferred"} ! limb-girdle muscular dystrophy is_a: MONDO:0019056 ! neuromuscular disease intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10805 ! SGCA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10805 {source="MONDO:mim2gene_medgen"} ! SGCA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10805 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10805 {source="OMIM:608099"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -271245,7 +270166,6 @@ is_a: MONDO:0015286 {source="MESH:C535746", source="MONDO:0011969/inferred", sou is_a: MONDO:0017740 {source="Orphanet:79325"} ! disorder of protein N-glycosylation relationship: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23161 {source="MONDO:mim2gene_medgen"} ! ALG8 [Term] id: MONDO:0011970 @@ -271302,9 +270222,9 @@ xref: Orphanet:183666 {source="OMIM:608106", source="DOID:0060759"} xref: UMLS:C1720958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328420"} is_a: MONDO:0003947 {source="DOID:0060759", source="MONDO:Redundant", source="OMIM:608106"} ! hyper-IgM syndrome intersection_of: MONDO:0003947 ! hyper-IgM syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12572 ! UNG +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12572 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011971 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12572 {source="MONDO:mim2gene_medgen"} ! UNG +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12572 {source="OMIM:608106"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10581/immunodeficiency-with-hyper-igm-type-5" xsd:anyURI {source="GARD:0010581"} @@ -271336,7 +270256,6 @@ xref: SCTID:129635004 {source="DOID:5425", source="MONDO:equivalentTo"} xref: UMLS:C0085083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:38966"} is_a: MONDO:0002263 {source="MONDO:0015875-obsoleted", source="MONDO:Entailed", source="Orphanet:64739"} ! female reproductive system disorder is_a: MONDO:0005558 {source="DOID:5425", source="MESH:D016471"} ! ovarian disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3969 {source="MONDO:mim2gene_medgen"} ! FSHR [Term] id: MONDO:0011973 @@ -271351,7 +270270,7 @@ xref: MESH:C564286 {source="MONDO:equivalentTo"} xref: OMIM:608118 {source="MONDO:equivalentTo"} xref: UMLS:C1842486 {source="MEDGEN:330858", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11013 {source="MONDO:mim2gene_medgen"} ! SLC30A2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11013 {source="OMIM:608118"} [Term] id: MONDO:0011974 @@ -271378,8 +270297,8 @@ xref: Orphanet:791 {source="OMIM:608133"} xref: UMLS:C1842475 {source="MEDGEN:334168", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019200 {source="DC-OMIM:608133", source="DOID:0110383", source="MONDO:Redundant", source="OMIM:608133"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10254 ! ROM1 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9942 ! PRPH2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10254 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10254 {source="OMIM:608133"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10386/retinitis-pigmentosa-7" xsd:anyURI {source="GARD:0010386"} @@ -271557,6 +270476,7 @@ xref: MEDGEN:374932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608175 {source="MONDO:equivalentTo"} xref: UMLS:C1842444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374932"} is_a: MONDO:0000162 {source="DC-OMIM:608175"} ! autoimmune thyroid disease, susceptibility to +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19899 {source="OMIM:608175"} [Term] id: MONDO:0011983 @@ -271605,7 +270525,6 @@ is_a: MONDO:0021651 {source="Orphanet:295197"} ! synpolydactyly is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism intersection_of: MONDO:0000722 ! non-syndromic synpolydactyly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3600 ! FBLN1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3600 {source="MONDO:mim2gene_medgen"} ! FBLN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -271662,7 +270581,6 @@ xref: UMLS:C1842402 {source="MEDGEN:334069", source="MONDO:equivalentTo", source is_a: MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:103918"} ! pancreas disorder is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease is_a: MONDO:0005003 {source="MESH:C564276", source="MONDO:Redundant"} ! chronic pancreatitis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11244 {source="MONDO:mim2gene_medgen"} ! SPINK1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -271686,7 +270604,6 @@ xref: UMLS:C2750720 {source="MEDGEN:413025", source="MONDO:equivalentTo", source is_a: MONDO:0015993 {source="DC-OMIM:608194", source="DOID:0111016", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:608194"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13436 ! RPGRIP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13436 {source="MONDO:mim2gene_medgen"} ! RPGRIP1 [Term] id: MONDO:0011988 @@ -271714,7 +270631,6 @@ xref: UMLS:C1842398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015978 {source="Orphanet:183707"} ! functional neutrophil defect is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011988 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9802 {source="MONDO:mim2gene_medgen"} ! RAC2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -271867,8 +270783,8 @@ xref: OMIM:608224 {source="DOID:0110567", source="MONDO:equivalentTo"} xref: UMLS:C1842371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330834"} is_a: MONDO:0019587 {source="DC-OMIM:608224", source="DOID:0110567", source="MONDO:Redundant", source="OMIM:608224"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15459 ! P2RX2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15459 {source="MONDO:mim2gene_medgen"} ! P2RX2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15459 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15459 {source="OMIM:608224"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -271956,7 +270872,6 @@ xref: SCTID:92818009 {source="DOID:8552", source="EFO:0000339"} xref: UMLS:C0279543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75993"} is_a: MONDO:0004643 {source="DOID:8552", source="MONDO:Entailed", source="NCIT:C3174"} ! myeloid leukemia is_a: MONDO:0020076 {source="EFO:0000339", source="MONDO:Redundant", source="NCIT:C3174", source="ONCOTREE:CML", source="Orphanet:521"} ! myeloproliferative neoplasm -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1014 {source="MONDO:mim2gene_medgen"} ! BCR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -271994,9 +270909,9 @@ is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.co is_a: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis is_a: MONDO:0019312 {source="DC-OMIM:608233", source="DOID:0060540", source="MESH:C537709", source="MONDO:Redundant", source="NCIT:C150368", source="OMIM:608233", source="Orphanet:183678"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/566 ! AP3B1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/566 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011997 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/566 {source="MONDO:mim2gene_medgen"} ! AP3B1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/566 {source="OMIM:608233"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9435/hermansky-pudlak-syndrome-2" xsd:anyURI {source="GARD:0009435"} [Term] @@ -272025,7 +270940,7 @@ xref: UMLS:C1842357 {source="MEDGEN:330829", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0015358 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary motor and sensory neuropathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011998 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14103 {source="MONDO:mim2gene_medgen"} ! ARHGEF10 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14103 {source="OMIM:608236"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -272130,8 +271045,8 @@ xref: Orphanet:90636 {source="OMIM:608265"} xref: UMLS:C1842342 {source="MEDGEN:374909", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:608265", source="DOID:0110497", source="MONDO:Redundant", source="OMIM:608265"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4893 ! HGF -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4893 {source="MONDO:mim2gene_medgen"} ! HGF +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4893 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4893 {source="OMIM:608265"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -272194,7 +271109,6 @@ is_a: MONDO:0021311 {source="MONDO:Redundant", source="NCIT:C4906", source="ONCO is_a: MONDO:0021360 {source="MONDO:Redundant", source="Orphanet:143"} ! tumor of parathyroid gland intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16783 {source="MONDO:mim2gene_medgen"} ! CDC73 [Term] id: MONDO:0012005 @@ -272303,8 +271217,8 @@ xref: UMLS:C1842247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005010 {source="DC-OMIM:608320", source="MESH:C564258", source="MONDO:Redundant"} ! coronary artery disorder intersection_of: MONDO:0005010 ! coronary artery disorder -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6993 ! MEF2A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6993 {source="MONDO:mim2gene_medgen"} ! MEF2A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6993 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6993 {source="OMIM:608320"} [Term] id: MONDO:0012012 @@ -272341,7 +271255,6 @@ is_a: MONDO:0015626 {source="DOID:0110199/inferred", source="MESH:C564257", sour is_a: MONDO:0019548 {source="Orphanet:100045", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12840 ! YARS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12840 {source="MONDO:mim2gene_medgen"} ! YARS1 [Term] id: MONDO:0012013 @@ -272374,7 +271287,6 @@ xref: SCTID:722450007 {source="MONDO:equivalentTo"} xref: UMLS:C1869115 {source="MEDGEN:358388", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018096 {source="DC-OMIM:608328", source="OMIM:608328"} ! Weill-Marchesani syndrome is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -272412,7 +271324,6 @@ is_a: MONDO:0015626 {source="DOID:0110201/inferred", source="MESH:C564256", sour is_a: MONDO:0017058 {source="Orphanet:217055"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15968 ! GDAP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15968 {source="MONDO:mim2gene_medgen"} ! GDAP1 [Term] id: MONDO:0012015 @@ -272499,7 +271410,6 @@ xref: Orphanet:93283 {source="MONDO:equivalentTo", source="OMIM:608361"} xref: SCTID:719203001 {source="MONDO:equivalentTo"} xref: UMLS:C1842149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330777"} is_a: MONDO:0016761 {source="DOID:0112282", source="Orphanet:93283"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/319 {source="MONDO:mim2gene_medgen"} ! ACAN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -272617,9 +271527,9 @@ xref: UMLS:C1842127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:608380", source="DOID:0110368", source="MESH:C564249", source="MONDO:Redundant", source="OMIM:608380"} ! retinitis pigmentosa is_a: MONDO:0800401 {source="https://clinicalgenome.org/affiliation/40072/"} ! CERKL-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21699 ! CERKL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21699 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21699 {source="MONDO:mim2gene_medgen"} ! CERKL +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21699 {source="OMIM:608380"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10397/retinitis-pigmentosa-26" xsd:anyURI {source="GARD:0010397"} @@ -272645,7 +271555,6 @@ xref: UMLS:C1842124 {source="MEDGEN:333995", source="MONDO:equivalentTo", source is_a: MONDO:0018878 {source="DC-OMIM:608389", source="MONDO:Redundant", source="OMIM:608389"} ! branchiootic syndrome intersection_of: MONDO:0018878 ! branchiootic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10887 ! SIX1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10887 {source="MONDO:mim2gene_medgen"} ! SIX1 [Term] id: MONDO:0012026 @@ -272706,7 +271615,6 @@ xref: UMLS:C1842109 {source="MEDGEN:330770", source="MONDO:equivalentTo", source is_a: MONDO:0016660 {source="DC-OMIM:608393", source="MONDO:Redundant", source="OMIM:608393"} ! autosomal recessive primary microcephaly is_a: MONDO:0700054 {source="https://clinicalgenome.org/affiliation/40060"} ! microcephaly 6 with or without short stature relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17272 {source="MONDO:mim2gene_medgen"} ! CENPJ -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17272 {source="MONDO:mim2gene_medgen"} ! CENPJ [Term] id: MONDO:0012030 @@ -272757,7 +271665,6 @@ is_a: MONDO:0001531 {source="DOID:0111046", source="MONDO:Redundant"} ! blood co is_a: MONDO:0003847 {source="MESH:C564245", source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1663 ! CD36 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1663 {source="MONDO:mim2gene_medgen"} ! CD36 [Term] id: MONDO:0012032 @@ -272840,6 +271747,7 @@ xref: Orphanet:55595 {source="DOID:0110304", source="MONDO:equivalentTo", source xref: SCTID:719989007 {source="MONDO:equivalentTo"} xref: UMLS:C1842062 {source="MONDO:equivalentTo", source="MEDGEN:333983", source="MONDO:MEDGEN"} is_a: MONDO:0015151 {source="DOID:0110304", source="OMIM:608423", source="Orphanet:55595"} ! muscular dystrophy, limb-girdle, autosomal dominant +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17103 {source="OMIM:608423"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -272901,8 +271809,8 @@ xref: Orphanet:88616 {source="OMIM:608443"} xref: UMLS:C1838023 {source="MEDGEN:373870", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DC-OMIM:608443", source="DOID:0081179", source="MONDO:Redundant", source="OMIM:608443"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30237 ! CC2D1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30237 {source="MONDO:mim2gene_medgen"} ! CC2D1A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30237 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30237 {source="OMIM:608443"} [Term] id: MONDO:0012038 @@ -272988,7 +271896,6 @@ is_a: MONDO:0016362 {source="Orphanet:247798"} ! attenuated familial adenomatous is_a: MONDO:0021055 {source="DOID:0080410", source="OMIM:608456"} ! classic familial adenomatous polyposis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012041 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:608456", source="Orphanet:247798"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7527 {source="MONDO:mim2gene_medgen"} ! MUTYH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5374" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10805/myh-associated-polyposis" xsd:anyURI {source="GARD:0010805"} @@ -273049,7 +271956,6 @@ xref: SCTID:231930000 {source="DOID:0060453", source="MONDO:equivalentTo"} xref: UMLS:C0339278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83284"} is_a: MONDO:0000764 {source="DOID:0060453"} ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0020212 {source="Orphanet:98961"} ! superficial corneal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 {source="MONDO:mim2gene_medgen"} ! TGFBI [Term] id: MONDO:0012044 @@ -273071,7 +271977,6 @@ xref: Orphanet:98964 {source="OMIM:608471"} xref: UMLS:C1837974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332989"} is_a: MONDO:0004686 ! lattice corneal dystrophy relationship: excluded_subClassOf MONDO:0007380 {source="Orphanet:98964/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! lattice corneal dystrophy type I -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 {source="MONDO:mim2gene_medgen"} ! TGFBI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10320/lattice-corneal-dystrophy-type-3a" xsd:anyURI {source="GARD:0010320"} [Term] @@ -273223,7 +272128,7 @@ is_a: MONDO:0005500 {source="DC-OMIM:608540", source="DOID:0080563", source="OMI is_a: MONDO:0015286 {source="MESH:C535749", source="MONDO:0012052/inferred", source="MONDO:Redundant", source="OMIM:608540", source="Orphanet:79327/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79327"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18294 {source="MONDO:mim2gene_medgen"} ! ALG1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18294 {source="OMIM:608540"} [Term] id: MONDO:0012053 @@ -273308,7 +272213,6 @@ is_a: MONDO:0800101 {source="https://clinicalgenome.org/affiliation/40072/"} ! N intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17877 ! NMNAT1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17877 {source="MONDO:mim2gene_medgen"} ! NMNAT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9491/leber-congenital-amaurosis-9" xsd:anyURI {source="GARD:0009491"} @@ -273326,7 +272230,6 @@ xref: OMIM:608556 {source="MONDO:equivalentTo"} xref: UMLS:C1837872 {source="MEDGEN:325276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0005824 ! Legionnaires' disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11851 {source="MONDO:mim2gene_medgen"} ! TLR5 [Term] id: MONDO:0012058 @@ -273386,8 +272289,8 @@ xref: OMIM:608565 {source="MONDO:equivalentTo", source="DOID:0110493"} xref: UMLS:C1837857 {source="MONDO:equivalentTo", source="MEDGEN:324897", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:608565", source="DOID:0110493", source="MONDO:Redundant", source="OMIM:608565"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3473 ! ESRRB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3473 {source="MONDO:mim2gene_medgen"} ! ESRRB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3473 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3473 {source="OMIM:608565"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -273444,7 +272347,6 @@ xref: MESH:C563906 {source="MONDO:equivalentTo"} xref: OMIM:608569 {source="MONDO:equivalentTo", source="DOID:0110451"} xref: UMLS:C1837839 {source="MEDGEN:325268", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:608569"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/60 {source="MONDO:mim2gene_medgen"} ! ABCC9 [Term] id: MONDO:0012063 @@ -273493,7 +272395,7 @@ xref: OMIM:608572 {source="Orphanet:1200", source="MONDO:equivalentTo", source=" xref: Orphanet:1200 {source="MONDO:equivalentTo", source="OMIM:608572"} xref: UMLS:C1837822 {source="MEDGEN:325265", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015161 {source="Orphanet:1200"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30551 {source="MONDO:mim2gene_medgen"} ! TXNL4A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30551 {source="OMIM:608572"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10041/choanal-atresia-hearing-loss-cardiac-defects-craniofacial-dysmorphism-syndrome" xsd:anyURI {source="GARD:0010041"} [Term] @@ -273533,8 +272435,8 @@ xref: OMIM:608584 {source="MONDO:equivalentTo"} xref: UMLS:C1837811 {source="MEDGEN:324885", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010940 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! inherited susceptibility to asthma intersection_of: MONDO:0010940 ! inherited susceptibility to asthma -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23631 ! NPSR1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23631 {source="MONDO:mim2gene_medgen"} ! NPSR1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23631 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23631 {source="OMIM:608584"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -273603,8 +272505,8 @@ xref: UMLS:C1720862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0006536 {source="DC-OMIM:608594", source="DOID:0111135", source="MONDO:Redundant", source="OMIM:608594"} ! congenital generalized lipodystrophy is_a: MONDO:0018883 {source="Orphanet:528/btnt"} ! Berardinelli-Seip congenital lipodystrophy intersection_of: MONDO:0006536 ! congenital generalized lipodystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/325 ! AGPAT2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/325 {source="MONDO:mim2gene_medgen"} ! AGPAT2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/325 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/325 {source="OMIM:608594"} [Term] id: MONDO:0012072 @@ -273653,7 +272555,7 @@ xref: SCTID:124667004 {source="MONDO:equivalentTo"} xref: UMLS:C1291609 {source="MEDGEN:220946", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019046 {source="Orphanet:440706"} ! leukodystrophy is_a: MONDO:0019231 {source="Orphanet:440706", source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10297 {source="MONDO:mim2gene_medgen"} ! RPIA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10297 {source="OMIM:608611"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -273683,7 +272585,6 @@ is_a: MONDO:0016584 {source="DC-OMIM:608612", source="DOID:0081129", source="OMI is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012074 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12877 {source="MONDO:mim2gene_medgen"} ! ZMPSTE24 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9989/mandibuloacral-dysplasia-with-type-b-lipodystrophy" xsd:anyURI {source="GARD:0009989"} @@ -273710,7 +272611,6 @@ xref: Orphanet:300576 {source="OMIM:608615", source="MONDO:equivalentTo"} xref: UMLS:C1837750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324868"} is_a: MONDO:0003847 {source="OMIM:608615"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012075 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/904 {source="MONDO:mim2gene_medgen"} ! AXIN2 [Term] id: MONDO:0012076 @@ -273746,7 +272646,6 @@ is_a: MONDO:0005144 {source="DC-OMIM:608627", source="DOID:0050752", source="MES intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12649 ! VAPB relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012077 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12649 {source="MONDO:mim2gene_medgen"} ! VAPB property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10499/amyotrophic-lateral-sclerosis-type-8" xsd:anyURI {source="GARD:0010499"} [Term] @@ -273773,9 +272672,9 @@ xref: UMLS:C1837713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016364 {source="Orphanet:Inferred"} ! Joubert syndrome with ocular defect is_a: MONDO:0018772 {source="DC-OMIM:608629", source="DOID:0110998", source="MONDO:Redundant", source="NCIT:C148259", source="OMIM:608629"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21575 ! AHI1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21575 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012078 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21575 {source="MONDO:mim2gene_medgen"} ! AHI1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21575 {source="OMIM:608629"} [Term] id: MONDO:0012079 @@ -273819,7 +272718,6 @@ is_a: MONDO:0015352 {source="Orphanet:139525/btnt"} ! distal hereditary motor ne is_a: MONDO:0018894 {source="DC-OMIM:608634", source="MONDO:Redundant"} ! distal hereditary motor neuropathy intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5246 ! HSPB1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5246 {source="MONDO:mim2gene_medgen"} ! HSPB1 [Term] id: MONDO:0012081 @@ -273906,7 +272804,6 @@ xref: UMLS:C1837640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019587 {source="DC-OMIM:608641", source="DOID:0110557", source="MONDO:Redundant", source="OMIM:608641"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2799 ! GRHL2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2799 {source="MONDO:mim2gene_medgen"} ! GRHL2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -273945,7 +272842,7 @@ xref: SCTID:237922009 {source="MONDO:equivalentTo"} xref: UMLS:C1291564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220945"} is_a: MONDO:0017759 {source="Orphanet:35708"} ! disorder of catecholamine synthesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012084 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2719 {source="MONDO:mim2gene_medgen"} ! DDC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2719 {source="OMIM:608643"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency" xsd:anyURI {source="GARD:0000770"} [Term] @@ -273975,9 +272872,9 @@ xref: OMIM:608644 {source="DOID:0110599", source="MONDO:equivalentTo"} xref: UMLS:C1837618 {source="MEDGEN:325210", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:608644", source="DOID:0110599", source="MESH:C535278", source="MESH:C535278/inferred", source="MONDO:Redundant", source="OMIM:608644"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2950 ! DNAH5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2950 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012085 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2950 {source="MONDO:mim2gene_medgen"} ! DNAH5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2950 {source="OMIM:608644"} [Term] id: MONDO:0012086 @@ -274049,9 +272946,9 @@ xref: OMIM:608647 {source="DOID:0110617", source="MONDO:equivalentTo"} xref: UMLS:C1837615 {source="MEDGEN:324840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:608647", source="DOID:0110617", source="MESH:C563886", source="MONDO:Redundant", source="OMIM:608647"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19368 ! HYDIN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19368 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012088 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19368 {source="MONDO:mim2gene_medgen"} ! HYDIN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19368 {source="OMIM:608647"} [Term] id: MONDO:0012089 @@ -274082,7 +272979,7 @@ is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="htt is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0043905 {source="NCIT:C62590"} ! pneumonitis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10998 {source="MONDO:mim2gene_medgen"} ! SLC27A4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10998 {source="OMIM:608649"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -274143,8 +273040,8 @@ xref: OMIM:608653 {source="DOID:0110491", source="MONDO:equivalentTo"} xref: UMLS:C1837608 {source="MEDGEN:373370", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:608653", source="DC-OMIM:616958", source="DOID:0110466", source="DOID:0110491", source="MONDO:Redundant", source="OMIM:608653", source="OMIM:616958"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1718 ! CDC14A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1718 {source="MONDO:mim2gene_medgen"} ! CDC14A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1718 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1718 {source="OMIM:608653"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -274184,7 +273081,7 @@ xref: SCTID:128206006 {source="DOID:0070145", source="MONDO:equivalentTo"} xref: SCTID:403605007 {source="DOID:0070145"} xref: UMLS:C0020075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6916"} is_a: MONDO:0015364 {source="DOID:0070145", source="OMIM:608654", source="Orphanet:64752/inferred"} ! hereditary sensory and autonomic neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7808 {source="MONDO:mim2gene_medgen"} ! NGF +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7808 {source="OMIM:608654"} [Term] id: MONDO:0012093 @@ -274284,7 +273181,6 @@ is_a: MONDO:0015626 {source="DOID:0110174/inferred", source="MONDO:Redundant", s is_a: MONDO:0018993 {source="DOID:0110174", source="MONDO:Redundant", source="Orphanet:99945"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30171 ! HSPB8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30171 {source="MONDO:mim2gene_medgen"} ! HSPB8 [Term] id: MONDO:0012097 @@ -274304,8 +273200,9 @@ xref: UMLS:C1837549 {source="MEDGEN:332481", source="MONDO:equivalentTo", source is_a: MONDO:0000359 {source="MONDO:Redundant", source="OMIM:608681"} ! spondylocostal dysostosis is_a: MONDO:0010180 {source="OMIM:608681", source="Orphanet:2311/btnt"} ! autosomal recessive spondylocostal dysostosis intersection_of: MONDO:0000359 ! spondylocostal dysostosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29659 ! MESP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29659 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29659 {source="OMIM:608681"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -274364,7 +273261,7 @@ is_a: MONDO:0015159 {source="Orphanet:250977"} ! multiple congenital anomalies/d is_a: MONDO:0019236 {source="Orphanet:250977"} ! inborn disorder of purine metabolism is_a: MONDO:0020242 {source="Orphanet:250977"} ! hereditary macular dystrophy relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:250977", source="Orphanet:250977/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/794 {source="MONDO:mim2gene_medgen"} ! ATIC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/794 {source="OMIM:608688"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -274562,8 +273459,8 @@ xref: OMIM:608716 {source="MONDO:equivalentTo"} xref: UMLS:C1837501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373344"} is_a: MONDO:0016660 {source="DC-OMIM:608716", source="DOID:0070280", source="MONDO:Redundant", source="OMIM:608716"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19048 ! ASPM -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19048 {source="MONDO:mim2gene_medgen"} ! ASPM +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19048 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19048 {source="OMIM:608716"} [Term] id: MONDO:0012107 @@ -274603,7 +273500,6 @@ xref: SCTID:719166003 {source="MONDO:equivalentTo"} xref: UMLS:C1837481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325181"} is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:608728", source="Orphanet:156728", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6909 {source="MONDO:mim2gene_medgen"} ! MATN3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI @@ -274652,7 +273548,7 @@ xref: Orphanet:73272 {source="OMIM:608747", source="MONDO:equivalentTo"} xref: SCTID:724385009 {source="MONDO:equivalentTo"} xref: UMLS:C1837475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373337"} is_a: MONDO:0015892 {source="Orphanet:73272"} ! growth hormone insensitivity syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5464 {source="MONDO:mim2gene_medgen"} ! IGF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5464 {source="OMIM:608747"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -274681,8 +273577,8 @@ xref: UMLS:C1837471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005045 {source="DC-OMIM:608751", source="DOID:0110314", source="MESH:C563866/inferred", source="MONDO:Redundant", source="OMIM:608751"} ! hypertrophic cardiomyopathy is_a: MONDO:0024573 {source="DOID:0110314", source="MESH:C563866", source="MONDO:OMIM", source="OMIM:608751"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7584 ! MYL3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7584 {source="MONDO:mim2gene_medgen"} ! MYL3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7584 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7584 {source="OMIM:608751"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -274714,7 +273610,6 @@ is_a: MONDO:0024573 {source="DOID:0110316", source="MESH:C563865", source="MONDO intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7583 ! MYL2 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012112 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7583 {source="MONDO:mim2gene_medgen"} ! MYL2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -274785,6 +273680,7 @@ xref: Orphanet:98760 {source="OMIM:608768", source="MONDO:equivalentTo"} xref: SCTID:715753001 {source="MONDO:equivalentTo"} xref: UMLS:C1837454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332457"} is_a: MONDO:0019792 {source="Orphanet:98760"} ! autosomal dominant cerebellar ataxia type I +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32925 {source="OMIM:608768"} [Term] id: MONDO:0012117 @@ -274824,7 +273720,6 @@ is_a: MONDO:0005500 {source="DC-OMIM:608776", source="DOID:0080564", source="OMI is_a: MONDO:0015286 {source="MESH:C535750", source="MONDO:0012117/inferred", source="MONDO:Redundant", source="OMIM:608776", source="Orphanet:79328/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79328"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15672 {source="MONDO:mim2gene_medgen"} ! ALG9 [Term] id: MONDO:0012118 @@ -274865,7 +273760,7 @@ relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000- relationship: excluded_subClassOf MONDO:0005267 {source="MONDO:0018290-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! heart disorder relationship: excluded_subClassOf MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18622 {source="MONDO:mim2gene_medgen"} ! COG7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18622 {source="OMIM:608779"} [Term] id: MONDO:0012119 @@ -274908,7 +273803,7 @@ xref: Orphanet:765 {source="OMIM:608782"} xref: Orphanet:79246 {source="MONDO:equivalentTo", source="OMIM:608782"} xref: UMLS:C1837429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332448"} is_a: MONDO:0019169 {source="DC-OMIM:608782", source="OMIM:608782", source="Orphanet:79246"} ! pyruvate dehydrogenase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9279 {source="MONDO:mim2gene_medgen"} ! PDP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9279 {source="OMIM:608782"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9888/pyruvate-dehydrogenase-phosphatase-deficiency" xsd:anyURI {source="GARD:0009888"} [Term] @@ -274985,10 +273880,10 @@ is_a: MONDO:0005500 {source="DC-OMIM:608799", source="DOID:0080557", source="OMI is_a: MONDO:0015286 {source="MESH:C535743", source="MONDO:0012123/inferred", source="MONDO:Redundant", source="NCIT:C126871", source="OMIM:608799", source="Orphanet:79322/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017749 {source="Orphanet:79322"} ! disorder of multiple glycosylation intersection_of: MONDO:0015286 ! congenital disorder of glycosylation -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3005 ! DPM1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3005 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012123 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3005 {source="MONDO:mim2gene_medgen"} ! DPM1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3005 {source="OMIM:608799"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -275014,7 +273909,7 @@ xref: Orphanet:168593 {source="OMIM:608800", source="MONDO:equivalentTo"} xref: UMLS:C1837371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332428"} is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:168593"} ! respiratory system disorder is_a: MONDO:0020040 ! 46,XY disorder of sex development -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12382 {source="MONDO:mim2gene_medgen"} ! TSPYL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12382 {source="OMIM:608800"} [Term] id: MONDO:0012125 @@ -275048,7 +273943,6 @@ is_a: MONDO:0017226 {source="Orphanet:280282"} ! Pelizaeus-Merzbacher-like disea is_a: MONDO:0019046 {source="DOID:0060787", source="DOID:0060787/inferred", source="MONDO:Redundant", source="OMIM:608804", source="Orphanet:280282/inferred"} ! leukodystrophy intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17494 ! GJC2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17494 {source="MONDO:mim2gene_medgen"} ! GJC2 [Term] id: MONDO:0012126 @@ -275122,7 +274016,6 @@ is_a: MONDO:0015152 {source="DOID:0110283", source="MONDO:Redundant", source="OM is_a: MONDO:0100493 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal recessive titinopathy intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 ! TTN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 {source="MONDO:mim2gene_medgen"} ! TTN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -275151,7 +274044,6 @@ xref: UMLS:C1837341 {source="MEDGEN:332422", source="MONDO:equivalentTo", source is_a: MONDO:0019443 {source="DOID:0060771", source="MONDO:Redundant", source="OMIM:608808"} ! dextro-looped transposition of the great arteries intersection_of: MONDO:0019443 ! dextro-looped transposition of the great arteries intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22962 ! MED13L -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22962 {source="MONDO:mim2gene_medgen"} ! MED13L property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5348" xsd:anyURI [Term] @@ -275201,7 +274093,6 @@ is_a: MONDO:0005336 {source="DOID:0080093", source="MONDO:Redundant", source="MO is_a: MONDO:0016108 {source="MONDO:Redundant", source="Orphanet:399058"} ! autosomal dominant distal myopathy intersection_of: MONDO:0016108 ! autosomal dominant distal myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2389 ! CRYAB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2389 {source="MONDO:mim2gene_medgen"} ! CRYAB [Term] id: MONDO:0012131 @@ -275245,10 +274136,10 @@ xref: MEDGEN:324734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608812 {source="MONDO:equivalentTo"} xref: UMLS:C1837315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324734"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19877 ! GALNT12 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19877 intersection_of: predisposes_towards MONDO:0005575 ! colorectal cancer relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012132 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19877 {source="MONDO:mim2gene_medgen"} ! GALNT12 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19877 {source="OMIM:608812"} [Term] id: MONDO:0012133 @@ -275328,7 +274219,6 @@ xref: Orphanet:157 {source="OMIM:608836"} xref: Orphanet:228308 {source="OMIM:608836", source="MONDO:equivalentTo"} xref: UMLS:C1833518 {source="MEDGEN:318896", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015515 {source="DC-OMIM:608836", source="Orphanet:228308"} ! carnitine palmitoyltransferase II deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2330 {source="MONDO:mim2gene_medgen"} ! CPT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -275352,7 +274242,6 @@ xref: UMLS:C1837245 {source="MEDGEN:332400", source="MONDO:equivalentTo", source is_a: MONDO:0015285 {source="DC-OMIM:608837"} ! Carney complex is_a: MONDO:0016432 {source="Orphanet:319340"} ! heart-hand syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:608837"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7578 {source="MONDO:mim2gene_medgen"} ! MYH8 [Term] id: MONDO:0012138 @@ -275378,7 +274267,6 @@ xref: Orphanet:370968 {source="MONDO:relatedTo", source="OMIM:608840"} xref: Orphanet:98894 {source="DOID:0110637", source="MONDO:equivalentObsolete", source="OMIM:608840"} xref: UMLS:C1837229 {source="MEDGEN:373284", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000172 {source="DC-OMIM:608840", source="DOID:0110637", source="OMIM:608840"} ! muscular dystrophy-dystroglycanopathy, type B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6511 {source="MONDO:mim2gene_medgen"} ! LARGE1 [Term] id: MONDO:0012139 @@ -275425,7 +274313,6 @@ xref: UMLS:C1837213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6121 ! IRF6 intersection_of: predisposes_towards MONDO:0000358 ! orofacial cleft -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6121 {source="MONDO:mim2gene_medgen"} ! IRF6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -275454,7 +274341,6 @@ is_a: MONDO:0016044 {source="Orphanet:199306/btnt"} ! cleft lip/palate intersection_of: MONDO:0000358 ! orofacial cleft intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7391 ! MSX1 relationship: has_characteristic MONDO:0021128 ! has an isolated presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7391 {source="MONDO:mim2gene_medgen"} ! MSX1 [Term] id: MONDO:0012143 @@ -275485,7 +274371,6 @@ xref: UMLS:C1837206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000508 {source="Orphanet:168577", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption is_a: MONDO:0020102 {source="Orphanet:168577"} ! hereditary stomatocytosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11005 {source="MONDO:mim2gene_medgen"} ! SLC2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -275511,7 +274396,6 @@ is_a: MONDO:0018094 {source="DOID:0110952", source="MONDO:Redundant", source="OM is_a: MONDO:0019517 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! Waardenburg syndrome type 2 intersection_of: MONDO:0019517 ! Waardenburg syndrome type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11094 ! SNAI2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11094 {source="MONDO:mim2gene_medgen"} ! SNAI2 [Term] id: MONDO:0012145 @@ -275536,7 +274420,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005150 {source="DC-OMIM:608895", source="MONDO:Redundant", source="OMIM:608895"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3602 ! FBLN5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3602 {source="MONDO:mim2gene_medgen"} ! FBLN5 [Term] id: MONDO:0012146 @@ -275565,8 +274448,8 @@ xref: Orphanet:540 {source="OMIM:608898", source="MONDO:directSiblingOf"} xref: UMLS:C1837174 {source="MEDGEN:332383", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015541 {source="MONDO:Redundant", source="OMIM:608898", source="https://orcid.org/0000-0002-6601-2165"} ! hereditary hemophagocytic lymphohistiocytosis intersection_of: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23147 ! UNC13D -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23147 {source="MONDO:mim2gene_medgen"} ! UNC13D +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23147 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23147 {source="OMIM:608898"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9928/hemophagocytic-lymphohistiocytosis-familial-3" xsd:anyURI {source="GARD:0009928"} [Term] @@ -275587,7 +274470,6 @@ xref: UMLS:C1837173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4814 ! KALRN intersection_of: predisposes_towards MONDO:0005010 ! coronary artery disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4814 {source="MONDO:mim2gene_medgen"} ! KALRN [Term] id: MONDO:0012148 @@ -275684,8 +274566,9 @@ xref: OMIM:608907 {source="MONDO:equivalentTo"} xref: Orphanet:1020 {source="OMIM:608907"} xref: UMLS:C4282179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:924255"} intersection_of: MONDO:0020573 {source="MONDO:mim2gene_medgen"} ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37 {source="MONDO:mim2gene_medgen"} ! ABCA7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/37 {source="MONDO:mim2gene_medgen"} intersection_of: predisposes_towards MONDO:0015140 {source="MONDO:mim2gene_medgen"} ! early-onset autosomal dominant Alzheimer disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/37 {source="OMIM:608907"} [Term] id: MONDO:0012154 @@ -275709,7 +274592,6 @@ xref: UMLS:C1837148 {source="MEDGEN:324696", source="MONDO:equivalentTo", source is_a: MONDO:0001384 {source="DC-OMIM:608908", source="MESH:C536105", source="MONDO:Redundant", source="OMIM:608908", source="Orphanet:98619/btnt"} ! myopia intersection_of: MONDO:0001384 ! myopia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10604 ! SCO2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10604 {source="MONDO:mim2gene_medgen"} ! SCO2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9937/myopia-6" xsd:anyURI {source="GARD:0009937"} [Term] @@ -275772,7 +274654,6 @@ is_a: MONDO:0018940 {source="DOID:0110662", source="MONDO:Redundant", source="OM is_a: MONDO:0020344 {source="MONDO:Redundant", source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of GO:0098975 ! postsynapse of neuromuscular junction relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1955 {source="MONDO:mim2gene_medgen"} ! CHRNA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -275871,7 +274752,6 @@ xref: Orphanet:85167 {source="MONDO:equivalentTo", source="OMIM:608940"} xref: UMLS:C1837073 {source="MEDGEN:324684", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016763 {source="DOID:0112300", source="Orphanet:85167", source="PMID:31633310"} ! spondylometaphyseal dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012160 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8754 {source="MONDO:mim2gene_medgen"} ! PCYT1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -275899,7 +274779,7 @@ xref: UMLS:C1837065 {source="MEDGEN:323058", source="MONDO:equivalentTo", source is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012161 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:169085", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1706 {source="MONDO:mim2gene_medgen"} ! CD8A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1706 {source="OMIM:608957"} relationship: predisposes_towards MONDO:0024355 {source="https://orcid.org/0000-0001-5208-3432"} ! respiratory tract infectious disorder [Term] @@ -275925,8 +274805,8 @@ xref: Orphanet:99001 {source="OMIM:608970"} xref: UMLS:C1837029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332348"} is_a: MONDO:0020381 {source="DOID:0060864", source="MONDO:Redundant", source="OMIM:608970"} ! patterned macular dystrophy intersection_of: MONDO:0020381 ! patterned macular dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2509 ! CTNNA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2509 {source="MONDO:mim2gene_medgen"} ! CTNNA1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2509 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2509 {source="OMIM:608970"} [Term] id: MONDO:0012163 @@ -275957,7 +274837,7 @@ xref: UMLS:C5676890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0031520 {source="DOID:0090014", source="OMIM:608971"} ! familial severe combined immunodeficiency is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012163 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6024 {source="OMIM:608971"} ! IL7R +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6024 {source="OMIM:608971"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5160" xsd:anyURI @@ -275989,7 +274869,6 @@ xref: UMLS:C1837026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0020040 ! 46,XY disorder of sex development -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12796 {source="MONDO:mim2gene_medgen"} ! WT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -276017,7 +274896,6 @@ xref: UMLS:C2750433 {source="MEDGEN:413305", source="MONDO:equivalentTo", source is_a: MONDO:0000110 {source="DC-OMIM:608980"} ! bifid nose is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:217266"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23399 {source="MONDO:mim2gene_medgen"} ! FREM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -276043,7 +274921,6 @@ is_a: MONDO:0100311 {source="https://orcid.org/0000-0001-5208-3432"} ! sensory a intersection_of: MONDO:0100311 ! sensory ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25358 ! RNF170 relationship: excluded_subClassOf MONDO:0100309 {source="DOID:0111170", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary ataxia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25358 {source="MONDO:mim2gene_medgen"} ! RNF170 [Term] id: MONDO:0012167 @@ -276094,7 +274971,6 @@ xref: Orphanet:619 {source="OMIM:608996"} xref: UMLS:C1837008 {source="MEDGEN:373230", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:608996", source="MESH:C563816", source="OMIM:608996"} ! inherited primary ovarian failure -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1092 {source="MONDO:mim2gene_medgen"} ! FOXL2 [Term] id: MONDO:0012170 @@ -276124,7 +275000,6 @@ xref: UMLS:C1837007 {source="MEDGEN:324662", source="MONDO:equivalentTo", source is_a: MONDO:0019588 {source="DC-OMIM:609006", source="DOID:0110494", source="MONDO:Redundant", source="OMIM:609006"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13281 ! ESPN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13281 {source="MONDO:mim2gene_medgen"} ! ESPN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -276215,7 +275090,6 @@ is_a: MONDO:0017713 ! disorder of fatty acid oxidation and ketogenesis is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012173 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0017715 {source="Orphanet:5", source="https://orcid.org/0000-0001-5208-3432"} ! 3-hydroxyacyl-CoA dehydrogenase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4801 {source="MONDO:mim2gene_medgen"} ! HADHA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -276305,7 +275179,7 @@ xref: UMLS:C1836916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020046 {source="Orphanet:88628"} ! autosomal recessive degenerative and progressive cerebellar ataxia is_a: MONDO:0100449 {source="https://clinicalgenome.org/affiliation/40072/"} ! FLVCR1-related retinopathy with or without ataxia relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24682 {source="MONDO:mim2gene_medgen"} ! FLVCR1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24682 {source="OMIM:609033"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -276361,8 +275235,8 @@ xref: Orphanet:217656 {source="OMIM:609040"} xref: UMLS:C1836906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373205"} is_a: MONDO:0016342 {source="DOID:0110077", source="MESH:C563808", source="MONDO:Redundant", source="OMIM:609040", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9024 ! PKP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9024 {source="MONDO:mim2gene_medgen"} ! PKP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9024 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9024 {source="OMIM:609040"} [Term] id: MONDO:0012181 @@ -276420,12 +275294,12 @@ xref: UMLS:C1836892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020573 {source="OMIM:609048"} ! inherited disease susceptibility is_a: MONDO:0024462 {source="OMIM:609048"} ! susceptibility to familial cutaneous melanoma intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1773 ! CDK4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1773 intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012183 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial melanoma relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:609048", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1773 {source="MONDO:mim2gene_medgen"} ! CDK4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1773 {source="OMIM:609048"} relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -276460,7 +275334,6 @@ xref: UMLS:C1836876 {source="MEDGEN:373199", source="MONDO:equivalentTo", source is_a: MONDO:0002350 {source="NCIT:C128145"} ! familial nephrotic syndrome is_a: MONDO:0006025 {source="DOID:0060852", source="MONDO:Redundant"} ! autosomal recessive disease relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:609049", source="Orphanet:2670"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6487 {source="MONDO:mim2gene_medgen"} ! LAMB2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome" xsd:anyURI {source="GARD:0009420"} [Term] @@ -276512,7 +275385,7 @@ xref: OMIM:609053 {source="DOID:0111091", source="MONDO:equivalentTo"} xref: UMLS:C1836861 {source="MONDO:equivalentTo", source="MEDGEN:323016", source="MONDO:MEDGEN"} is_a: MONDO:0019391 {source="DC-OMIM:609053", source="DOID:0111091", source="MESH:C563802", source="NCIT:C129026", source="OMIM:609053"} ! Fanconi anemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012186 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25568 {source="MONDO:mim2gene_medgen"} ! FANCI +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25568 {source="OMIM:609053"} [Term] id: MONDO:0012187 @@ -276538,7 +275411,6 @@ xref: OMIM:609054 {source="MONDO:equivalentTo", source="DOID:0111097"} xref: UMLS:C1836860 {source="MEDGEN:323015", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019391 {source="DC-OMIM:609054", source="DOID:0111097", source="MESH:C563801", source="NCIT:C129027", source="OMIM:609054"} ! Fanconi anemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012187 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20473 {source="MONDO:mim2gene_medgen"} ! BRIP1 [Term] id: MONDO:0012188 @@ -276595,7 +275467,6 @@ xref: OMIM:609057 {source="Orphanet:300333", source="MONDO:equivalentTo", source xref: Orphanet:300333 {source="MONDO:equivalentTo", source="OMIM:609057"} xref: UMLS:C1836823 {source="MEDGEN:323004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017610 {source="OMIM:609057"} ! epidermolysis bullosa simplex -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1630 {source="MONDO:mim2gene_medgen"} ! CD151 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -276630,8 +275501,8 @@ is_a: MONDO:0000732 {source="DC-OMIM:609060", source="DOID:0111474", source="MON is_a: MONDO:0005066 {source="MESH:C563797/inferred", source="NCIT:C125663", source="Orphanet:137681", source="Orphanet:137681/inferred"} ! metabolic disease is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13780 {source="MONDO:mim2gene_medgen"} ! GFM1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13780 {source="MONDO:mim2gene_medgen"} ! GFM1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13780 {source="MONDO:mim2gene_medgen"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13780 {source="OMIM:609060"} [Term] id: MONDO:0012192 @@ -276657,7 +275528,6 @@ is_a: MONDO:0016391 {source="Orphanet:65288"} ! neonatal diabetes mellitus is_a: MONDO:0020022 ! central nervous system malformation is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:65288", source="Orphanet:65288/inferred"} ! disorder of development or morphogenesis relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23734 {source="MONDO:mim2gene_medgen"} ! PTF1A [Term] id: MONDO:0012193 @@ -276687,8 +275557,8 @@ xref: SCTID:719990003 {source="MONDO:equivalentTo"} xref: UMLS:C1836765 {source="MEDGEN:322993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015151 {source="DOID:0110306", source="MONDO:Redundant", source="OMIM:609115", source="Orphanet:55596"} ! muscular dystrophy, limb-girdle, autosomal dominant intersection_of: MONDO:0015151 ! muscular dystrophy, limb-girdle, autosomal dominant -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5037 ! HNRNPDL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5037 {source="MONDO:mim2gene_medgen"} ! HNRNPDL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5037 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5037 {source="OMIM:609115"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -276762,8 +275632,8 @@ xref: UMLS:C1836743 {source="MEDGEN:322984", source="MONDO:equivalentTo", source is_a: MONDO:0019587 {source="DOID:0060690"} ! autosomal dominant nonsyndromic hearing loss is_a: MONDO:0021944 {source="MONDO:Redundant", source="OMIM:609129"} ! auditory neuropathy intersection_of: MONDO:0021944 ! auditory neuropathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15480 ! DIAPH3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15480 {source="MONDO:mim2gene_medgen"} ! DIAPH3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15480 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15480 {source="OMIM:609129"} [Term] id: MONDO:0012197 @@ -276837,7 +275707,6 @@ relationship: excluded_subClassOf MONDO:0019290 {source="Orphanet:163746", sourc relationship: excluded_subClassOf MONDO:0020127 {source="Orphanet:163746", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy relationship: excluded_subClassOf MONDO:0021189 {source="Orphanet:163746", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal motility disease relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:609136", source="Orphanet:163746"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11190 {source="MONDO:mim2gene_medgen"} ! SOX10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI [Term] @@ -276866,7 +275735,6 @@ xref: UMLS:C1852795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020364 {source="DC-OMIM:609140", source="DOID:0110856", source="MONDO:Redundant", source="OMIM:609140"} ! posterior polymorphous corneal dystrophy intersection_of: MONDO:0020364 ! posterior polymorphous corneal dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2216 ! COL8A2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2216 {source="MONDO:mim2gene_medgen"} ! COL8A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -276894,7 +275762,6 @@ xref: UMLS:C1836724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020364 {source="DC-OMIM:609141", source="DOID:0110857", source="MONDO:Redundant", source="OMIM:609141"} ! posterior polymorphous corneal dystrophy intersection_of: MONDO:0020364 ! posterior polymorphous corneal dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11642 ! ZEB1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11642 {source="MONDO:mim2gene_medgen"} ! ZEB1 [Term] id: MONDO:0012201 @@ -276915,7 +275782,7 @@ xref: MEDGEN:332274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609148 {source="MONDO:equivalentTo"} xref: UMLS:C1836721 {source="MEDGEN:332274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 ! inherited disease susceptibility -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19077 {source="MONDO:mim2gene_medgen"} ! NCR3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19077 {source="OMIM:609148"} relationship: predisposes_towards MONDO:0005136 ! malaria [Term] @@ -276944,7 +275811,6 @@ xref: OMIM:609152 {source="Orphanet:424", source="MONDO:equivalentTo", source="O xref: Orphanet:424 {source="MONDO:equivalentTo", source="OMIM:609152"} xref: UMLS:C1836706 {source="MONDO:equivalentTo", source="MEDGEN:373154", source="MONDO:MEDGEN"} is_a: MONDO:0004425 {source="DOID:0081101", source="Orphanet:424"} ! hyperthyroidism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12373 {source="MONDO:mim2gene_medgen"} ! TSHR [Term] id: MONDO:0012204 @@ -276973,7 +275839,6 @@ xref: Orphanet:90044 {source="MONDO:equivalentTo", source="OMIM:609153"} xref: SCTID:717254007 {source="MONDO:equivalentTo"} xref: UMLS:C1836705 {source="MEDGEN:324588", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020102 {source="Orphanet:90044"} ! hereditary stomatocytosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/47 {source="MONDO:mim2gene_medgen"} ! ABCB6 [Term] id: MONDO:0012205 @@ -276999,7 +275864,6 @@ is_a: MONDO:0000211 {source="DC-OMIM:609161", source="MONDO:Redundant", source=" is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder intersection_of: MONDO:0000211 ! striatal degeneration, autosomal dominant intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8794 ! PDE8B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8794 {source="MONDO:mim2gene_medgen"} ! PDE8B [Term] id: MONDO:0012206 @@ -277031,7 +275895,6 @@ xref: UMLS:C1836683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016761 {source="Orphanet:137678"} ! spondyloepiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:137678", source="PMID:31633310"} ! type 2 collagenopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012206 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7375" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7387" xsd:anyURI @@ -277080,7 +275943,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditar is_a: MONDO:0015947 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited ichthyosis is_a: MONDO:0017266 {source="Orphanet:281190"} ! keratinopathic ichthyosis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6413 {source="MONDO:mim2gene_medgen"} ! KRT10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -277161,7 +276023,7 @@ is_a: MONDO:0015286 {source="MESH:C535744", source="MONDO:0012211/inferred", sou is_a: MONDO:0017749 {source="Orphanet:79323"} ! disorder of multiple glycosylation relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7207 {source="MONDO:mim2gene_medgen"} ! MPDU1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7207 {source="OMIM:609180"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI [Term] @@ -277192,7 +276054,6 @@ is_a: MONDO:0018954 {source="DC-OMIM:609192", source="DOID:0070235", source="MON intersection_of: MONDO:0018954 ! Loeys-Dietz syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11772 ! TGFBR1 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:609192"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11772 {source="MONDO:mim2gene_medgen"} ! TGFBR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -277223,6 +276084,7 @@ xref: SCTID:726607007 {source="MONDO:equivalentTo"} xref: UMLS:C1836632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373138"} is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110777", source="MESH:C536862", source="MONDO:Redundant", source="OMIM:609195", source="Orphanet:101006/inferred"} ! hereditary spastic paraplegia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4117 {source="OMIM:609195"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -277302,9 +276164,9 @@ is_a: MONDO:0015151 {source="DOID:0110300", source="MONDO:Redundant", source="OM is_a: MONDO:0016108 {source="MONDO:Redundant", source="Orphanet:98911"} ! autosomal dominant distal myopathy is_a: MONDO:0018943 {source="DOID:0080094", source="OMIM:182920", source="OMIM:609200", source="Orphanet:268129", source="Orphanet:98911"} ! myofibrillar myopathy intersection_of: MONDO:0018943 ! myofibrillar myopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12399 ! MYOT +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12399 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12399 {source="MONDO:mim2gene_medgen"} ! MYOT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12399 {source="OMIM:609200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6203" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a" xsd:anyURI {source="GARD:0010229"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8711/spheroid-body-myopathy" xsd:anyURI {source="GARD:0008711"} @@ -277340,7 +276202,7 @@ is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid tra is_a: MONDO:0020249 {source="Orphanet:397618"} ! hereditary optic neuropathy is_a: MONDO:0044203 {source="OMIM:609218"} ! foveal hypoplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012216 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32434 {source="MONDO:mim2gene_medgen"} ! SLC38A8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32434 {source="OMIM:609218"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -277367,8 +276229,8 @@ xref: UMLS:C1836602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017195 {source="DC-OMIM:609220", source="MONDO:Redundant", source="OMIM:609220"} ! Bruck syndrome is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0017195 ! Bruck syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9082 ! PLOD2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9082 {source="MONDO:mim2gene_medgen"} ! PLOD2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9082 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9082 {source="OMIM:609220"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -277426,8 +276288,8 @@ xref: Orphanet:79478 {source="MONDO:equivalentTo", source="DOID:0060834", source xref: UMLS:C1836573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373124"} is_a: MONDO:0018306 {source="DC-OMIM:609227", source="DOID:0060834", source="MONDO:Redundant", source="OMIM:609227", source="Orphanet:79478"} ! Griscelli syndrome intersection_of: MONDO:0018306 ! Griscelli syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29643 ! MLPH -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29643 {source="MONDO:mim2gene_medgen"} ! MLPH +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29643 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29643 {source="OMIM:609227"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9715/griscelli-syndrome-type-3" xsd:anyURI {source="GARD:0009715"} [Term] @@ -277466,7 +276328,6 @@ xref: Orphanet:79281 {source="OMIM:609241", source="MONDO:directSiblingOf"} xref: SCTID:879937000 {source="https://orcid.org/0009-0002-1597-2198", source="MONDO:equivalentTo"} xref: UMLS:C1836544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373113"} is_a: MONDO:0017779 {source="DOID:0112318", source="Orphanet:79279"} ! alpha-N-acetylgalactosaminidase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7631 {source="MONDO:mim2gene_medgen"} ! NAGA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -277500,7 +276361,6 @@ xref: Orphanet:79280 {source="MONDO:equivalentTo", source="OMIM:609242"} xref: SCTID:880065001 {source="https://orcid.org/0009-0002-1597-2198", source="MONDO:equivalentTo"} xref: UMLS:C1836522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324539"} is_a: MONDO:0017779 {source="DOID:0112319", source="Orphanet:79280"} ! alpha-N-acetylgalactosaminidase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7631 {source="MONDO:mim2gene_medgen"} ! NAGA [Term] id: MONDO:0012223 @@ -277548,9 +276408,9 @@ xref: Orphanet:3156 {source="OMIM:609254"} xref: UMLS:C1836517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332226"} is_a: MONDO:0017842 {source="DC-OMIM:609254", source="MONDO:Redundant", source="OMIM:609254"} ! Senior-Loken syndrome intersection_of: MONDO:0017842 ! Senior-Loken syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28949 ! IQCB1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28949 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:609254"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28949 {source="MONDO:mim2gene_medgen"} ! IQCB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28949 {source="OMIM:609254"} [Term] id: MONDO:0012226 @@ -277659,7 +276519,6 @@ is_a: MONDO:0015626 {source="DOID:0110155/inferred", source="MESH:C563757", sour is_a: MONDO:0018993 {source="DOID:0110155", source="MONDO:Redundant", source="Orphanet:99947"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16877 ! MFN2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16877 {source="MONDO:mim2gene_medgen"} ! MFN2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -277766,9 +276625,9 @@ xref: UMLS:C1836472 {source="MEDGEN:373095", source="MONDO:equivalentTo", source is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy is_a: MONDO:0018958 {source="DOID:0110935", source="MESH:C538398", source="MONDO:Redundant", source="OMIM:609273"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37227 ! KBTBD13 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/37227 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012237 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37227 {source="MONDO:mim2gene_medgen"} ! KBTBD13 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/37227 {source="OMIM:609273"} [Term] id: MONDO:0012238 @@ -277794,7 +276653,6 @@ is_a: MONDO:0000090 {source="MONDO:0012238/inferred", source="MONDO:Redundant", is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10990 ! SLC25A4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10990 {source="MONDO:mim2gene_medgen"} ! SLC25A4 [Term] id: MONDO:0012239 @@ -277825,7 +276683,6 @@ is_a: MONDO:0019952 {source="OMIM:609284"} ! congenital myopathy is_a: MONDO:0100108 {source="https://clinicalgenome.org/docs/clingen-cmp-ep-acgs-collaboration/"} ! TPM3-related myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12012 ! TPM3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12012 {source="MONDO:mim2gene_medgen", source="OMIM:609284"} ! TPM3 [Term] id: MONDO:0012240 @@ -277856,7 +276713,6 @@ is_a: MONDO:0018958 {source="DOID:0110932", source="MESH:C538351", source="MONDO is_a: MONDO:0100196 {source="https://clinicalgenome.org/affiliation/40031/"} ! TPM2-related myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12011 ! TPM2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12011 {source="MONDO:mim2gene_medgen"} ! TPM2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6327" xsd:anyURI @@ -277884,7 +276740,6 @@ is_a: MONDO:0000090 {source="MONDO:0012241/inferred", source="MONDO:Redundant", is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1160 ! TWNK -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1160 {source="MONDO:mim2gene_medgen"} ! TWNK [Term] id: MONDO:0012242 @@ -277914,6 +276769,7 @@ xref: OMIM:609296 {source="MONDO:equivalentTo"} xref: UMLS:C1836437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332208"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012243 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11990 {source="OMIM:609296"} [Term] id: MONDO:0012244 @@ -277955,8 +276811,8 @@ xref: UMLS:C5574665 {source="MEDGEN:1801135", source="MONDO:equivalentTo", sourc is_a: MONDO:0016022 {source="Orphanet:1935/btnt"} ! early myoclonic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:609304", source="DOID:0080440", source="MONDO:Redundant", source="OMIM:609304"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19954 ! SLC25A22 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19954 {source="MONDO:mim2gene_medgen"} ! SLC25A22 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19954 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19954 {source="OMIM:609304"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -277983,7 +276839,7 @@ xref: Orphanet:101112 {source="OMIM:609306", source="MONDO:equivalentTo"} xref: SCTID:718769009 {source="MONDO:equivalentTo"} xref: UMLS:C1836395 {source="MONDO:equivalentTo", source="MEDGEN:373077", source="MONDO:MEDGEN"} is_a: MONDO:0019793 {source="Orphanet:101112"} ! autosomal dominant cerebellar ataxia type III -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3214 {source="MONDO:mim2gene_medgen"} ! EEF2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3214 {source="OMIM:609306"} [Term] id: MONDO:0012247 @@ -278011,7 +276867,6 @@ xref: Orphanet:98764 {source="OMIM:609307", source="MONDO:equivalentTo"} xref: SCTID:719252002 {source="MONDO:equivalentTo"} xref: UMLS:C1836383 {source="MEDGEN:373075", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019792 {source="Orphanet:98764"} ! autosomal dominant cerebellar ataxia type I -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3671 {source="MONDO:mim2gene_medgen"} ! FGF14 [Term] id: MONDO:0012248 @@ -278055,7 +276910,6 @@ intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystro intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9202 ! POMT1 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9202 {source="MONDO:mim2gene_medgen"} ! POMT1 [Term] id: MONDO:0012249 @@ -278083,7 +276937,6 @@ xref: UMLS:C1333991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018630 {source="MONDO:Redundant", source="NCIT:C6726/inferred", source="OMIM:609310"} ! hereditary nonpolyposis colon cancer relationship: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:609310", source="NCIT:C6726", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:609310"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7127 {source="MONDO:mim2gene_medgen"} ! MLH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5666" xsd:anyURI [Term] @@ -278120,8 +276973,8 @@ xref: UMLS:C1836336 {source="MEDGEN:324487", source="MONDO:equivalentTo", source is_a: MONDO:0015626 {source="DOID:0110192/inferred", source="MESH:C563740", source="MONDO:Redundant", source="OMIM:609311", source="Orphanet:99954/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018995 {source="DOID:0110192", source="MONDO:Redundant", source="Orphanet:99954"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19125 ! FGD4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19125 {source="MONDO:mim2gene_medgen"} ! FGD4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19125 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19125 {source="OMIM:609311"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12442/charcot-marie-tooth-disease-type-4h" xsd:anyURI {source="GARD:0012442"} [Term] @@ -278156,7 +277009,7 @@ is_a: MONDO:0017762 {source="Orphanet:171851"} ! disorder of copper metabolism is_a: MONDO:0019270 {source="Orphanet:171851"} ! erythrokeratoderma relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012251 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:171851", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/559 {source="MONDO:mim2gene_medgen"} ! AP1S1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/559 {source="OMIM:609313"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -278194,7 +277047,6 @@ is_a: MONDO:0016473 {source="MONDO:Redundant", source="OMIM:609322", source="Orp intersection_of: MONDO:0016473 ! familial rhabdoid tumor intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11103 ! SMARCB1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012252 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11103 {source="MONDO:mim2gene_medgen"} ! SMARCB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -278281,7 +277133,7 @@ xref: SCTID:763376002 {source="MONDO:equivalentTo"} xref: UMLS:C1836295 {source="MEDGEN:332174", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110779", source="MONDO:Redundant", source="OMIM:609340", source="Orphanet:101008/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19714 {source="MONDO:mim2gene_medgen"} ! DDHD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19714 {source="OMIM:609340"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI [Term] @@ -278324,7 +277176,6 @@ xref: Orphanet:158681 {source="MONDO:equivalentTo", source="OMIM:609352"} xref: SCTID:716700003 {source="MONDO:equivalentTo"} xref: UMLS:C1836284 {source="MEDGEN:324475", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017610 {source="OMIM:609352", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6442 {source="MONDO:mim2gene_medgen"} ! KRT5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -278472,8 +277323,8 @@ xref: Orphanet:275555 {source="OMIM:609404"} xref: UMLS:C1836255 {source="MEDGEN:322874", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005081 {source="DC-OMIM:609404", source="MESH:C563724", source="MONDO:Redundant", source="OMIM:609404"} ! preeclampsia intersection_of: MONDO:0005081 ! preeclampsia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23508 ! STOX1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23508 {source="MONDO:mim2gene_medgen"} ! STOX1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23508 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23508 {source="OMIM:609404"} [Term] id: MONDO:0012267 @@ -278617,7 +277468,6 @@ xref: SCTID:724170007 {source="MONDO:equivalentTo"} xref: UMLS:C1836206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324459"} is_a: MONDO:0019530 {source="Orphanet:157801"} ! non-syndromic syndactyly is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/35126 {source="MONDO:mim2gene_medgen"} ! BHLHA9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -278658,7 +277508,6 @@ xref: UMLS:C1836199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019588 {source="DC-OMIM:609439", source="DOID:0110505", source="MONDO:Redundant", source="OMIM:609439"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24579 ! CIB2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24579 {source="MONDO:mim2gene_medgen"} ! CIB2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -278683,7 +277532,6 @@ xref: UMLS:C4225404 {source="MEDGEN:904735", source="MONDO:equivalentTo", source is_a: MONDO:0019696 {source="DOID:0081237", source="OMIM:609441", source="PMID:31633310"} ! acromesomelic dysplasia intersection_of: MONDO:0019696 ! acromesomelic dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1077 ! BMPR1B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1077 {source="MONDO:mim2gene_medgen"} ! BMPR1B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10077/chondrodysplasia-acromesomelic-with-genital-anomalies" xsd:anyURI {source="GARD:0010077"} @@ -278753,7 +277601,6 @@ xref: Orphanet:79137 {source="MONDO:equivalentTo", source="OMIM:609446"} xref: UMLS:C5574945 {source="MONDO:equivalentTo", source="MEDGEN:1801137", source="MONDO:MEDGEN"} is_a: MONDO:0017704 {source="Orphanet:79137"} ! familial partial epilepsy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012276 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6284 {source="MONDO:mim2gene_medgen"} ! KCNMA1 [Term] id: MONDO:0012277 @@ -278788,7 +277635,6 @@ is_a: MONDO:0016190 {source="Orphanet:98912"} ! qualitative or quantitative defe is_a: MONDO:0018943 {source="DOID:0080095", source="MONDO:Redundant", source="OMIM:609452", source="Orphanet:98912"} ! myofibrillar myopathy intersection_of: MONDO:0018943 ! myofibrillar myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15710 ! LDB3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15710 {source="MONDO:mim2gene_medgen"} ! LDB3 [Term] id: MONDO:0012278 @@ -278844,7 +277690,7 @@ is_a: MONDO:0002254 {source="DOID:0060481", source="https://orcid.org/0000-0001- is_a: MONDO:0015159 {source="Orphanet:66629"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0021189 {source="Orphanet:66629"} ! intestinal motility disease relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:66629", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23419 {source="MONDO:mim2gene_medgen"} ! KIFBP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23419 {source="OMIM:609460"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6456" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -278953,7 +277799,6 @@ xref: Orphanet:90653 {source="OMIM:609508"} xref: UMLS:C1836080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322820"} is_a: MONDO:0007160 {source="Orphanet:90653/btnt"} ! Stickler syndrome type 1 is_a: MONDO:0019354 {source="MONDO:Redundant", source="OMIM:609508"} ! Stickler syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 [Term] id: MONDO:0012288 @@ -279002,7 +277847,6 @@ is_a: MONDO:0018943 {source="DOID:0080096", source="MONDO:Redundant", source="OM intersection_of: MONDO:0018943 ! myofibrillar myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3756 ! FLNC relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012289 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3756 {source="MONDO:mim2gene_medgen"} ! FLNC [Term] id: MONDO:0012290 @@ -279030,7 +277874,7 @@ xref: UMLS:C1836033 {source="MONDO:equivalentTo", source="MEDGEN:332113", source is_a: MONDO:0002254 {source="DOID:0060337", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0017666 {source="Orphanet:66631-generalized-by-cjm", source="Orphanet:66631/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/49"} ! diffuse palmoplantar keratoderma relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:66631", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11133 {source="MONDO:mim2gene_medgen"} ! SNAP29 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11133 {source="OMIM:609528"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -279061,7 +277905,6 @@ is_a: MONDO:0001341 {source="DC-OMIM:609529", source="MESH:C536291", source="MON is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0001341 ! selective IgA deficiency disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18153 ! TNFRSF13B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18153 {source="MONDO:mim2gene_medgen"} ! TNFRSF13B property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10198/immunoglobulin-a-deficiency-2" xsd:anyURI {source="GARD:0010198"} [Term] @@ -279081,6 +277924,7 @@ xref: UMLS:C1835407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020573 {source="OMIM:609532", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:609532", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: excluded_subClassOf MONDO:0044200 {source="PMID:31953710", source="https://orcid.org/0000-0001-5208-3432"} ! T-B+ severe combined immunodeficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18365 {source="OMIM:609532"} relationship: predisposes_towards MONDO:0005231 {source="OMIM:609532"} ! hepatitis C virus infection property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -279111,7 +277955,6 @@ xref: UMLS:C1836027 {source="MEDGEN:332110", source="MONDO:equivalentTo", source is_a: MONDO:0019588 {source="DC-OMIM:609533", source="DOID:0110481", source="MONDO:Redundant", source="OMIM:609533"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14674 ! PCDH15 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14674 {source="MONDO:mim2gene_medgen"} ! PCDH15 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -279158,7 +278001,6 @@ is_a: MONDO:0003832 {source="DOID:8158", source="MONDO:Redundant", source="NCIT: is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency intersection_of: MONDO:0003832 ! complement deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1331 ! C5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1331 {source="MONDO:mim2gene_medgen"} ! C5 [Term] id: MONDO:0012296 @@ -279212,7 +278054,7 @@ xref: UMLS:C1836010 {source="MEDGEN:324411", source="MONDO:equivalentTo", source is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20716 {source="MONDO:mim2gene_medgen"} ! KLC2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20716 {source="OMIM:609541"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -279252,7 +278094,6 @@ is_a: MONDO:0005514 {source="DC-OMIM:609549", source="MONDO:Redundant", source=" is_a: MONDO:0021129 {source="MESH:C563700", source="MONDO:Redundant", source="OMIM:609549", source="Orphanet:35612/btnt"} ! microphthalmia intersection_of: MONDO:0005514 ! nanophthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18121 ! MFRP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18121 {source="MONDO:mim2gene_medgen"} ! MFRP [Term] id: MONDO:0012300 @@ -279301,7 +278142,6 @@ xref: SCTID:703527003 {source="MONDO:equivalentTo"} xref: UMLS:C3149750 {source="MEDGEN:461100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018158 {source="DC-OMIM:609560", source="DOID:0080120", source="OMIM:609560", source="Orphanet:254875"} ! mitochondrial DNA depletion syndrome is_a: MONDO:0019238 {source="Orphanet:254875"} ! inborn disorder of pyrimidine metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11831 {source="MONDO:mim2gene_medgen"} ! TK2 [Term] id: MONDO:0012302 @@ -279405,7 +278245,6 @@ xref: OMIM:609579 {source="MONDO:equivalentTo", source="Orphanet:168624", source xref: Orphanet:168624 {source="MONDO:equivalentTo", source="OMIM:609579"} xref: UMLS:C1865070 {source="MEDGEN:355365", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015704 {source="Orphanet:168624"} ! familial scaphocephaly syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 {source="MONDO:mim2gene_medgen"} ! FGFR2 [Term] id: MONDO:0012308 @@ -279438,7 +278277,6 @@ is_a: MONDO:0018772 {source="DC-OMIM:609583", source="DOID:0110999", source="NCI relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:220497", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease relationship: excluded_subClassOf MONDO:0020022 {source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7905 {source="MONDO:mim2gene_medgen"} ! NPHP1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies" xsd:anyURI {source="GARD:0010169"} [Term] @@ -279462,7 +278300,6 @@ xref: UMLS:C1865044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018953 {source="DC-OMIM:609597", source="MONDO:Redundant", source="OMIM:609597"} ! parietal foramina intersection_of: MONDO:0018953 ! parietal foramina intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/450 ! ALX4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/450 {source="MONDO:mim2gene_medgen"} ! ALX4 [Term] id: MONDO:0012310 @@ -279512,7 +278349,6 @@ xref: UMLS:C1865020 {source="MEDGEN:355891", source="MONDO:equivalentTo", source is_a: MONDO:0000453 {source="DC-OMIM:609620", source="MONDO:Redundant", source="OMIM:609620"} ! short QT syndrome intersection_of: MONDO:0000453 ! short QT syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6251 ! KCNH2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6251 {source="MONDO:mim2gene_medgen"} ! KCNH2 [Term] id: MONDO:0012313 @@ -279533,7 +278369,6 @@ xref: UMLS:C1865019 {source="MEDGEN:355890", source="MONDO:equivalentTo", source is_a: MONDO:0000453 {source="MONDO:Redundant", source="OMIM:609621"} ! short QT syndrome intersection_of: MONDO:0000453 ! short QT syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6294 ! KCNQ1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6294 {source="MONDO:mim2gene_medgen"} ! KCNQ1 [Term] id: MONDO:0012314 @@ -279554,7 +278389,6 @@ xref: UMLS:C1865018 {source="MEDGEN:400662", source="MONDO:equivalentTo", source is_a: MONDO:0000453 {source="MONDO:Redundant", source="OMIM:609622"} ! short QT syndrome intersection_of: MONDO:0000453 ! short QT syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6263 ! KCNJ2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6263 {source="MONDO:mim2gene_medgen"} ! KCNJ2 [Term] id: MONDO:0012315 @@ -279633,7 +278467,7 @@ is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune sy is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder is_a: MONDO:0009813 {source="OMIM:609628"} ! chronic recurrent multifocal osteomyelitis is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119058", source="Orphanet:77297/inferred"} ! autoinflammatory syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14450 {source="MONDO:mim2gene_medgen"} ! LPIN2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14450 {source="OMIM:609628"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI @@ -279712,7 +278546,6 @@ xref: UMLS:C1864987 {source="MEDGEN:400655", source="MONDO:equivalentTo", source is_a: MONDO:0000700 {source="DOID:0111183", source="MONDO:Redundant", source="OMIM:609634", source="Orphanet:569/btnt"} ! familial hemiplegic migraine intersection_of: MONDO:0000700 ! familial hemiplegic migraine intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 ! SCN1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 {source="MONDO:mim2gene_medgen"} ! SCN1A [Term] id: MONDO:0012321 @@ -279765,8 +278598,8 @@ is_a: MONDO:0017219 ! microform holoprosencephaly is_a: MONDO:0019756 ! lobar holoprosencephaly is_a: MONDO:0019757 ! alobar holoprosencephaly intersection_of: MONDO:0016296 ! holoprosencephaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12873 ! ZIC2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12873 {source="MONDO:mim2gene_medgen"} ! ZIC2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12873 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12873 {source="OMIM:609637"} [Term] id: MONDO:0012323 @@ -279790,7 +278623,6 @@ xref: OMIM:609638 {source="Orphanet:158687", source="MONDO:equivalentTo", source xref: Orphanet:158687 {source="OMIM:609638", source="MONDO:equivalentTo"} xref: UMLS:C1864826 {source="MEDGEN:400622", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015550 {source="Orphanet:158687"} ! suprabasal epidermolysis bullosa simplex -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 {source="MONDO:mim2gene_medgen"} ! DSP property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9910/epidermolysis-bullosa-lethal-acantholytic" xsd:anyURI {source="GARD:0009910"} [Term] @@ -279865,8 +278697,8 @@ xref: OMIM:609646 {source="DOID:0110500", source="MONDO:equivalentTo"} xref: UMLS:C1864818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351225"} is_a: MONDO:0019588 {source="DC-OMIM:609646", source="DOID:0110500", source="MONDO:Redundant", source="OMIM:609646"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28741 ! ILDR1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28741 {source="MONDO:mim2gene_medgen"} ! ILDR1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28741 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28741 {source="OMIM:609646"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -279984,7 +278816,6 @@ xref: UMLS:C1864746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019588 {source="DC-OMIM:609706", source="DOID:0110509", source="MONDO:Redundant", source="OMIM:609706"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 ! COL11A2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 {source="MONDO:mim2gene_medgen"} ! COL11A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -280046,7 +278877,6 @@ xref: SCTID:702949005 {source="MONDO:equivalentTo"} xref: UMLS:C1857854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341863"} is_a: MONDO:0011122 {source="https://orcid.org/0000-0001-5208-3432"} ! obesity disorder relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9201 {source="MONDO:mim2gene_medgen"} ! POMC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -280076,8 +278906,8 @@ xref: UMLS:C1857853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005129 {source="DOID:0110268", source="MESH:C565725", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:609741"} ! cataract is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2400 ! CRYBB3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2400 {source="MONDO:mim2gene_medgen"} ! CRYBB3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2400 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2400 {source="OMIM:609741"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -280132,7 +278962,6 @@ xref: UMLS:C1857847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7609 ! MYO9B intersection_of: predisposes_towards MONDO:0005130 ! celiac disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7609 {source="MONDO:mim2gene_medgen"} ! MYO9B [Term] id: MONDO:0012340 @@ -280173,7 +279002,6 @@ xref: UMLS:C1857845 {source="MEDGEN:347563", source="MONDO:equivalentTo", source intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2505 ! CTLA4 intersection_of: predisposes_towards MONDO:0005130 ! celiac disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2505 {source="MONDO:mim2gene_medgen"} ! CTLA4 [Term] id: MONDO:0012342 @@ -280285,7 +279113,7 @@ xref: Orphanet:263534 {source="MONDO:equivalentTo", source="OMIM:609796"} xref: SCTID:709416009 {source="MONDO:equivalentTo"} xref: UMLS:C1853354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342862"} is_a: MONDO:0019347 {source="DC-OMIM:609796", source="DOID:0070521", source="OMIM:609796", source="Orphanet:263534"} ! peeling skin syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11781 {source="MONDO:mim2gene_medgen"} ! TGM5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11781 {source="OMIM:609796"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome" xsd:anyURI {source="GARD:0012863"} [Term] @@ -280350,9 +279178,9 @@ xref: SCTID:609575003 {source="MONDO:equivalentTo"} xref: UMLS:C1853297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342845"} is_a: MONDO:0018911 {source="DC-OMIM:609812", source="DOID:0111105", source="MONDO:Redundant"} ! maturity-onset diabetes of the young intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1848 ! CEL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1848 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012348 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1848 {source="MONDO:mim2gene_medgen"} ! CEL +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1848 {source="OMIM:609812"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10662/maturity-onset-diabetes-of-the-young-type-8" xsd:anyURI {source="GARD:0010662"} @@ -280378,9 +279206,9 @@ xref: UMLS:C1853296 {source="MEDGEN:377871", source="MONDO:equivalentTo", source is_a: MONDO:0000359 {source="MONDO:Redundant", source="OMIM:609813"} ! spondylocostal dysostosis is_a: MONDO:0010180 {source="MONDO:Redundant", source="OMIM:609813", source="Orphanet:2311/btnt"} ! autosomal recessive spondylocostal dysostosis intersection_of: MONDO:0010180 ! autosomal recessive spondylocostal dysostosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6560 ! LFNG +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6560 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6560 {source="MONDO:mim2gene_medgen"} ! LFNG +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6560 {source="OMIM:609813"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -280410,7 +279238,6 @@ xref: SCTID:234622003 {source="MONDO:equivalentTo"} xref: UMLS:C0398777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96024"} is_a: MONDO:0018013 {source="Orphanet:329918/btnt"} ! non-immunoglobulin-mediated membranoproliferative glomerulonephritis relationship: excluded_subClassOf MONDO:0016244 {source="Orphanet:2134/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! atypical hemolytic-uremic syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4883 {source="MONDO:mim2gene_medgen"} ! CFH [Term] id: MONDO:0012351 @@ -280471,7 +279298,6 @@ xref: UMLS:C1853286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0001115 {source="DC-OMIM:609820", source="DOID:0080338", source="OMIM:609820"} ! familial polycythemia intersection_of: MONDO:0001115 ! familial polycythemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1232 ! EGLN1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1232 {source="MONDO:mim2gene_medgen"} ! EGLN1 [Term] id: MONDO:0012354 @@ -280505,6 +279331,7 @@ xref: UMLS:C1853278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000009 {source="DC-OMIM:609821", source="DOID:0060692", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:609821"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012354 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18124 {source="OMIM:609821"} [Term] id: MONDO:0012355 @@ -280532,8 +279359,8 @@ xref: OMIM:609823 {source="MONDO:equivalentTo", source="DOID:0110486"} xref: UMLS:C1853276 {source="MEDGEN:342839", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:609823", source="DOID:0110486", source="MONDO:Redundant", source="OMIM:609823"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17009 ! TRIOBP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17009 {source="MONDO:mim2gene_medgen"} ! TRIOBP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17009 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17009 {source="OMIM:609823"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -280558,6 +279385,7 @@ synonym: "WDR36 open-angle glaucoma" EXACT [MONDO:design_pattern, MONDO:patterns xref: MESH:C563692 {source="MONDO:obsoleteEquivalent"} xref: OMIM:609887 {source="MONDO:obsoleteEquivalent"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012357 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30696 {source="OMIM:609887"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticCarrier"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4936" xsd:anyURI is_obsolete: true @@ -280604,7 +279432,6 @@ xref: SCTID:725290000 {source="MONDO:equivalentTo"} xref: UMLS:C1835931 {source="MEDGEN:372161", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:231154", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9831 {source="MONDO:mim2gene_medgen"} ! RAG1 [Term] id: MONDO:0012360 @@ -280664,7 +279491,6 @@ xref: OMIM:609909 {source="DOID:0110439", source="MONDO:equivalentTo"} xref: Orphanet:154 {source="OMIM:609909"} xref: UMLS:C1835928 {source="MEDGEN:322782", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:609909"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9080 {source="MONDO:mim2gene_medgen"} ! PLN [Term] id: MONDO:0012363 @@ -280685,6 +279511,7 @@ xref: MESH:C563689 {source="MONDO:equivalentTo"} xref: OMIM:609913 {source="MONDO:equivalentTo", source="DOID:0110355"} xref: UMLS:C1835927 {source="MEDGEN:322781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019200 {source="DC-OMIM:609913", source="DOID:0110355", source="MESH:C563689", source="OMIM:609913"} ! retinitis pigmentosa +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29675 {source="OMIM:609913"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10395/retinitis-pigmentosa-32" xsd:anyURI {source="GARD:0010395"} [Term] @@ -280755,9 +279582,9 @@ xref: UMLS:C1835923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:609923", source="DOID:0110391", source="MESH:C563685", source="MONDO:Redundant", source="OMIM:609923"} ! retinitis pigmentosa is_a: MONDO:0700233 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! TOPORS-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21653 ! TOPORS +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21653 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21653 {source="MONDO:mim2gene_medgen"} ! TOPORS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21653 {source="OMIM:609923"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10396/retinitis-pigmentosa-31" xsd:anyURI {source="GARD:0010396"} @@ -280791,7 +279618,7 @@ xref: UMLS:C1835922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004736 {source="MESH:C538246", source="MONDO:Redundant", source="PMID:33340416"} ! inborn disorder of amino acid metabolism is_a: MONDO:0017686 {source="EFO:1001981", source="Orphanet:137754"} ! inborn aminoacylase deficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012368 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/177 {source="MONDO:mim2gene_medgen"} ! ACY1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/177 {source="OMIM:609924"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9741/aminoacylase-1-deficiency" xsd:anyURI {source="GARD:0009741"} @@ -280808,7 +279635,6 @@ xref: UMLS:C1835919 {source="MEDGEN:332086", source="MONDO:equivalentTo", source intersection_of: MONDO:0020573 {source="MONDO:mim2gene_medgen"} ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6149 {source="MONDO:mim2gene_medgen"} ! ITGAM intersection_of: predisposes_towards MONDO:0007915 {source="MONDO:mim2gene_medgen"} ! systemic lupus erythematosus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6149 {source="MONDO:mim2gene_medgen"} ! ITGAM [Term] id: MONDO:0012370 @@ -280857,7 +279683,6 @@ xref: UMLS:C1860991 {source="MEDGEN:349931", source="MONDO:equivalentTo", source is_a: MONDO:0018997 {source="DC-OMIM:609942", source="DOID:0060581", source="MESH:C537847", source="MONDO:Redundant", source="OMIM:609942"} ! Noonan syndrome intersection_of: MONDO:0018997 ! Noonan syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6407 ! KRAS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6407 {source="MONDO:mim2gene_medgen"} ! KRAS property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9885/noonan-syndrome-3" xsd:anyURI {source="GARD:0009885"} [Term] @@ -281038,7 +279863,6 @@ xref: SCTID:721235003 {source="MONDO:equivalentTo"} xref: UMLS:C1864952 {source="MEDGEN:355335", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005803 {source="DC-OMIM:609968"} ! hyperinsulinemic hypoglycemia is_a: MONDO:0017182 {source="Orphanet:263458"} ! familial hyperinsulinism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6091 {source="MONDO:mim2gene_medgen"} ! INSR [Term] id: MONDO:0012382 @@ -281091,7 +279915,6 @@ is_a: MONDO:0019052 {source="MESH:C535310", source="Orphanet:71212/inferred"} ! intersection_of: MONDO:0005803 ! hyperinsulinemic hypoglycemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4799 ! HADH relationship: excluded_subClassOf MONDO:0017715 {source="Orphanet:71212", source="https://orcid.org/0000-0001-5208-3432"} ! 3-hydroxyacyl-CoA dehydrogenase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4799 {source="MONDO:mim2gene_medgen"} ! HADH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3977" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0009870"} @@ -281126,7 +279949,7 @@ xref: SCTID:724275005 {source="MONDO:equivalentTo"} xref: UMLS:C1864947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351256"} is_a: MONDO:0021094 {source="NCIT:C123729", source="OMIM:609981"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012383 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6947 {source="MONDO:mim2gene_medgen"} ! MCM4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6947 {source="OMIM:609981"} [Term] id: MONDO:0012384 @@ -281280,7 +280103,6 @@ is_a: MONDO:0015653 {source="Orphanet:1947"} ! monogenic epilepsy is_a: MONDO:0016295 {source="DC-OMIM:610003", source="DOID:0110724", source="OMIM:610003", source="Orphanet:1947"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0020074 {source="Orphanet:1947", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! progressive myoclonus epilepsy relationship: excluded_subClassOf MONDO:0020074 {source="Orphanet:1947", source="https://orcid.org/0000-0001-5208-3432"} ! progressive myoclonus epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2079 {source="MONDO:mim2gene_medgen"} ! CLN8 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6406" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2163/epilepsy-mental-deterioration-finnish-type" xsd:anyURI {source="GARD:0002163"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4010/northern-epilepsy" xsd:anyURI {source="GARD:0004010"} @@ -281317,7 +280139,7 @@ xref: UMLS:C1864912 {source="MEDGEN:355324", source="MONDO:equivalentTo", source is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria is_a: MONDO:0019215 {source="Orphanet:79157"} ! classic organic aciduria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012392 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/91 {source="MONDO:mim2gene_medgen"} ! ACADSB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/91 {source="OMIM:610006"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10322/2-methylbutyryl-coa-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0010322"} @@ -281351,7 +280173,6 @@ xref: UMLS:C1864910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017352 {source="Orphanet:71278"} ! disorder of glutamine metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012393 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4341 {source="MONDO:mim2gene_medgen"} ! GLUL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -281376,7 +280197,6 @@ xref: UMLS:C1832708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017923 {source="DC-OMIM:610017", source="DOID:0081318", source="MONDO:Redundant", source="OMIM:610017"} ! multiple synostoses syndrome intersection_of: MONDO:0017923 ! multiple synostoses syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 ! GDF5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9916/multiple-synostoses-syndrome-2" xsd:anyURI {source="GARD:0009916"} @@ -281407,12 +280227,12 @@ xref: Orphanet:98991 {source="OMIM:610019"} xref: UMLS:C1864908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351249"} is_a: MONDO:0005129 {source="DOID:0110238", source="MESH:C535337", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:610019"} ! cataract intersection_of: MONDO:0005129 ! cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14673 ! FYCO1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14673 relationship: excluded_subClassOf MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset non-syndromic cataract relationship: excluded_subClassOf MONDO:0020376 {source="Orphanet:98991/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset nuclear cataract relationship: excluded_subClassOf MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset partial cataract relationship: excluded_subClassOf MONDO:0020379 {source="MONDO:Redundant", source="Orphanet:98995/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset zonular cataract -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14673 {source="MONDO:mim2gene_medgen"} ! FYCO1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14673 {source="OMIM:610019"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -281453,7 +280273,6 @@ is_a: MONDO:0001933 {source="NCIT:C131839"} ! endocrine pancreas disorder is_a: MONDO:0005803 {source="DC-OMIM:610021"} ! hyperinsulinemic hypoglycemia is_a: MONDO:0015624 {source="Orphanet:165991"} ! diazoxide-sensitive diffuse hyperinsulinism is_a: MONDO:0017706 {source="Orphanet:165991"} ! disorder of carbohydrate transmembrane transport and absorption -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10922 {source="MONDO:mim2gene_medgen"} ! SLC16A1 [Term] id: MONDO:0012397 @@ -281486,7 +280305,6 @@ xref: OMIM:610024 {source="MONDO:equivalentTo"} xref: Orphanet:49382 {source="OMIM:610024"} xref: UMLS:C1864900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355864"} is_a: MONDO:0018852 {source="Orphanet:49382/btnt"} ! achromatopsia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8790 {source="MONDO:mim2gene_medgen"} ! PDE6H property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10648/retinal-cone-dystrophy-3a" xsd:anyURI {source="GARD:0010648"} @@ -281524,9 +280342,9 @@ is_a: MONDO:0015159 {source="Orphanet:300573"} ! multiple congenital anomalies/d is_a: MONDO:0016162 {source="Orphanet:208444/btnt", source="Orphanet:300573"} ! bilateral frontal polymicrogyria is_a: MONDO:0017091 {source="MONDO:Redundant", source="Orphanet:268940/btnt", source="Orphanet:300573/inferred"} ! bilateral polymicrogyria intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30829 ! TUBB2B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30829 relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:300573", source="Orphanet:300573/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30829 {source="MONDO:mim2gene_medgen"} ! TUBB2B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30829 {source="OMIM:610031"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -281558,7 +280376,6 @@ xref: UMLS:C2750246 {source="MEDGEN:413258", source="MONDO:equivalentTo", source is_a: MONDO:0002254 {source="NCIT:C133743"} ! syndromic disease is_a: MONDO:0016377 {source="https://orcid.org/0000-0002-6601-2165"} ! Pitt-Hopkins-like syndrome relationship: excluded_subClassOf MONDO:0015650 {source="Orphanet:163681", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13830 {source="MONDO:mim2gene_medgen"} ! CNTNAP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -281589,7 +280406,7 @@ xref: SCTID:702359002 {source="MONDO:equivalentTo"} xref: UMLS:C1864738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400601"} is_a: MONDO:0020213 {source="DOID:0060445", source="Orphanet:101068"} ! stromal corneal dystrophy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2705 {source="MONDO:mim2gene_medgen"} ! DCN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2705 {source="OMIM:610048"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -281655,7 +280472,6 @@ xref: UMLS:C1864730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0011023 {source="DOID:0111686", source="MONDO:Redundant", source="OMIM:610069", source="Orphanet:157794/btnt"} ! hereditary mixed polyposis syndrome intersection_of: MONDO:0011023 ! hereditary mixed polyposis syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1076 ! BMPR1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1076 {source="MONDO:mim2gene_medgen"} ! BMPR1A [Term] id: MONDO:0012406 @@ -281716,7 +280532,7 @@ is_a: MONDO:0100033 {source="MONDO:Redundant", source="https://orcid.org/0000-00 intersection_of: MONDO:0100033 ! metabolic epilepsy intersection_of: disease_responds_to CHEBI:18405 ! pyridoxal 5'-phosphate relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012407 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30260 {source="MONDO:mim2gene_medgen"} ! PNPO +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30260 {source="OMIM:610090"} property_value: seeAlso "https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#pyridoxine" xsd:anyURI [Term] @@ -281743,7 +280559,6 @@ xref: UMLS:C1864721 {source="MEDGEN:400598", source="MONDO:equivalentTo", source is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:610092", source="Orphanet:98938/btnt"} ! microphthalmia, isolated, with coloboma intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1975 ! VSX2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1975 {source="MONDO:mim2gene_medgen"} ! VSX2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -281771,7 +280586,6 @@ is_a: MONDO:0000062 {source="DC-OMIM:610093", source="DOID:0060839", source="MON is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1975 ! VSX2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1975 {source="MONDO:mim2gene_medgen"} ! VSX2 [Term] id: MONDO:0012410 @@ -281825,8 +280639,8 @@ xref: UMLS:C1864695 {source="MEDGEN:400593", source="MONDO:equivalentTo", source is_a: MONDO:0000128 {source="DC-OMIM:610100", source="MONDO:Redundant", source="OMIM:610100"} ! giant axonal neuropathy is_a: MONDO:0018993 {source="Orphanet:401964"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0000128 ! giant axonal neuropathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24891 ! DCAF8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24891 {source="MONDO:mim2gene_medgen"} ! DCAF8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24891 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24891 {source="OMIM:610100"} [Term] id: MONDO:0012412 @@ -281852,8 +280666,8 @@ xref: UMLS:C1864694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000015 {source="DC-OMIM:610102", source="MONDO:Redundant"} ! classic complement early component deficiency is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1346 ! C7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1346 {source="MONDO:mim2gene_medgen"} ! C7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1346 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1346 {source="OMIM:610102"} [Term] id: MONDO:0012413 @@ -281888,7 +280702,6 @@ xref: UMLS:C1864690 {source="MEDGEN:350491", source="MONDO:equivalentTo", source is_a: MONDO:0016073 {source="DC-OMIM:610125", source="DOID:0111806", source="MONDO:Redundant", source="OMIM:610125", source="Orphanet:178364"} ! syndromic microphthalmia intersection_of: MONDO:0016073 ! syndromic microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8522 ! OTX2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8522 {source="MONDO:mim2gene_medgen"} ! OTX2 [Term] id: MONDO:0012414 @@ -281938,9 +280751,9 @@ is_a: MONDO:0016295 {source="DOID:0110725", source="MONDO:Redundant", source="OM is_a: MONDO:0019260 {source="Orphanet:228337", source="Orphanet:79262/btnt"} ! adult neuronal ceroid lipofuscinosis is_a: MONDO:0019262 {source="Orphanet:228337", source="Orphanet:79264/btnt"} ! juvenile neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2529 ! CTSD +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2529 relationship: excluded_subClassOf MONDO:0009744 {source="Orphanet:168486/btnt", source="Orphanet:228337", source="https://orcid.org/0000-0001-5208-3432"} ! neuronal ceroid lipofuscinosis 1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2529 {source="MONDO:mim2gene_medgen"} ! CTSD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2529 {source="OMIM:610127"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1218/neuronal-ceroid-lipofuscinosis-10" xsd:anyURI {source="GARD:0001218"} [Term] @@ -281966,7 +280779,6 @@ is_a: MONDO:0000090 {source="MONDO:0012415/inferred", source="MONDO:Redundant", is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9180 ! POLG2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9180 {source="MONDO:mim2gene_medgen"} ! POLG2 [Term] id: MONDO:0012416 @@ -282008,7 +280820,6 @@ is_a: MONDO:0016432 {source="Orphanet:168796", source="https://orcid.org/0000-00 relationship: disease_has_feature HP:0001644 {source="Orphanet:168796"} ! Dilated cardiomyopathy relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:168796", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610140", source="Orphanet:168796"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9846/heart-hand-syndrome-slovenian-type" xsd:anyURI {source="GARD:0009846"} [Term] @@ -282059,7 +280870,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005150 {source="DC-OMIM:610149", source="DOID:0110019", source="MONDO:Redundant", source="OMIM:610149"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9476 ! HTRA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9476 {source="MONDO:mim2gene_medgen"} ! HTRA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -282088,8 +280898,8 @@ xref: OMIM:610153 {source="MONDO:equivalentTo", source="DOID:0110506"} xref: UMLS:C1857811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346670"} is_a: MONDO:0019588 {source="DC-OMIM:610153", source="DOID:0110506", source="MONDO:Redundant", source="OMIM:610153"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26401 ! MARVELD2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26401 {source="MONDO:mim2gene_medgen"} ! MARVELD2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26401 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26401 {source="OMIM:610153"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -282117,8 +280927,8 @@ xref: OMIM:610154 {source="DOID:0110501", source="MONDO:equivalentTo"} xref: UMLS:C1857809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341854"} is_a: MONDO:0019588 {source="DC-OMIM:610154", source="DOID:0110501", source="MONDO:Redundant", source="OMIM:610154"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/232 ! ADCY1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/232 {source="MONDO:mim2gene_medgen"} ! ADCY1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/232 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/232 {source="OMIM:610154"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -282172,7 +280982,6 @@ xref: UMLS:C1857802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012423 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0019118 {source="Orphanet:75858", source="https://orcid.org/0000-0001-5208-3432"} ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21474 {source="MONDO:mim2gene_medgen"} ! INPP5E property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10121/morm-syndrome" xsd:anyURI {source="GARD:0010121"} @@ -282233,9 +281042,9 @@ is_a: MONDO:0015703 {source="Orphanet:169160/btnt"} ! T-B+ severe combined immun is_a: MONDO:0015974 {source="DOID:0060007", source="MONDO:Redundant", source="MONDO:indirect"} ! severe combined immunodeficiency is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency intersection_of: MONDO:0015974 ! severe combined immunodeficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1677 ! CD247 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1677 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012426 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1677 {source="MONDO:mim2gene_medgen"} ! CD247 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1677 {source="OMIM:610163"} [Term] id: MONDO:0012427 @@ -282270,7 +281079,6 @@ intersection_of: MONDO:0018954 ! Loeys-Dietz syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11773 ! TGFBR2 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012427 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610168"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11773 {source="MONDO:mim2gene_medgen"} ! TGFBR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -282307,10 +281115,10 @@ xref: UMLS:C3489724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018866 {source="DC-OMIM:610181", source="MONDO:Redundant", source="OMIM:610181"} ! Aicardi-Goutieres syndrome is_a: MONDO:0700257 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! RNASEH2B-related type 1 interferonopathy intersection_of: MONDO:0018866 ! Aicardi-Goutieres syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25671 ! RNASEH2B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25671 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610181"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25671 {source="MONDO:mim2gene_medgen"} ! RNASEH2B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25671 {source="OMIM:610181"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI [Term] @@ -282338,7 +281146,6 @@ xref: UMLS:C2750234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:610185", source="Orphanet:1766/btnt"} ! cerebellar ataxia, intellectual disability, and dysequilibrium intersection_of: MONDO:0009133 ! cerebellar ataxia, intellectual disability, and dysequilibrium intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26600 ! WDR81 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26600 {source="MONDO:mim2gene_medgen"} ! WDR81 [Term] id: MONDO:0012431 @@ -282361,7 +281168,6 @@ xref: UMLS:C1857781 {source="MONDO:equivalentTo", source="MEDGEN:347546", source is_a: MONDO:0005711 {source="DC-OMIM:610187", source="MONDO:Redundant", source="OMIM:610187"} ! congenital diaphragmatic hernia intersection_of: MONDO:0005711 ! congenital diaphragmatic hernia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16700 ! ZFPM2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16700 {source="MONDO:mim2gene_medgen"} ! ZFPM2 [Term] id: MONDO:0012432 @@ -282387,7 +281193,6 @@ is_a: MONDO:0018772 {source="DC-OMIM:610188", source="DOID:0111000", source="MON is_a: MONDO:0100451 {source="https://clinicalgenome.org/affiliation/40072/"} ! CEP290-related ciliopathy intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 ! CEP290 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 {source="MONDO:mim2gene_medgen"} ! CEP290 [Term] id: MONDO:0012433 @@ -282413,7 +281218,6 @@ is_a: MONDO:0100451 {source="https://clinicalgenome.org/affiliation/40072/"} ! C intersection_of: MONDO:0017842 ! Senior-Loken syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 ! CEP290 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610189"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 {source="MONDO:mim2gene_medgen"} ! CEP290 [Term] id: MONDO:0012434 @@ -282445,7 +281249,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o relationship: excluded_subClassOf MONDO:0017401 {source="https://orcid.org/0000-0001-5208-3432"} ! familial isolated arrhythmogenic ventricular dysplasia, left dominant form relationship: excluded_subClassOf MONDO:0017402 {source="https://orcid.org/0000-0001-5208-3432"} ! familial isolated arrhythmogenic ventricular dysplasia, biventricular form relationship: excluded_subClassOf MONDO:0017403 {source="https://orcid.org/0000-0001-5208-3432"} ! familial isolated arrhythmogenic ventricular dysplasia, right dominant form -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3049 {source="MONDO:mim2gene_medgen"} ! DSG2 [Term] id: MONDO:0012435 @@ -282488,11 +281291,11 @@ xref: SCTID:711412004 {source="MONDO:equivalentTo"} xref: UMLS:C1857776 {source="MEDGEN:347542", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017359 {source="DC-OMIM:610198", source="DOID:0110000", source="MONDO:Redundant", source="OMIM:610198", source="Orphanet:66634"} ! 3-methylglutaconic aciduria intersection_of: MONDO:0017359 ! 3-methylglutaconic aciduria -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30528 ! DNAJC19 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30528 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012435 {source="MONDO:CLINGEN"} relationship: disease_has_major_feature HP:0001644 {source="Orphanet:66634"} ! Dilated cardiomyopathy relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:66634", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30528 {source="MONDO:mim2gene_medgen"} ! DNAJC19 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30528 {source="OMIM:610198"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10344/3-methylglutaconic-aciduria-type-v" xsd:anyURI {source="GARD:0010344"} [Term] @@ -282521,7 +281324,7 @@ xref: UMLS:C1857775 {source="MEDGEN:347541", source="MONDO:equivalentTo", source is_a: MONDO:0016391 {source="DOID:0060638"} ! neonatal diabetes mellitus relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:79118", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28510 {source="MONDO:mim2gene_medgen"} ! GLIS3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28510 {source="OMIM:610199"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -282555,7 +281358,6 @@ is_a: MONDO:0005129 {source="DOID:0110256", source="MESH:C565703", source="MONDO is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6776 ! MAF -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6776 {source="MONDO:mim2gene_medgen"} ! MAF [Term] id: MONDO:0012438 @@ -282582,7 +281384,6 @@ xref: Orphanet:166068 {source="DOID:0060274", source="MONDO:equivalentObsolete", xref: SCTID:718607001 {source="MONDO:equivalentTo"} xref: UMLS:C1857762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341845"} is_a: MONDO:0020135 {source="DC-OMIM:610204", source="DOID:0060274", source="OMIM:610204", source="Orphanet:166068"} ! pontocerebellar hypoplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27561 {source="MONDO:mim2gene_medgen"} ! TSEN54 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10709/pontocerebellar-hypoplasia-type-5" xsd:anyURI {source="GARD:0010709"} [Term] @@ -282610,7 +281411,6 @@ xref: Orphanet:52 {source="OMIM:610205"} xref: UMLS:C1857761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341844"} is_a: MONDO:0007318 {source="OMIM:610205", source="Orphanet:261629"} ! Alagille syndrome relationship: has_characteristic SO:1000008 ! point_mutation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7882 {source="MONDO:mim2gene_medgen"} ! NOTCH2 [Term] id: MONDO:0012440 @@ -282662,7 +281462,6 @@ xref: UMLS:C1857750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019588 {source="DC-OMIM:610212", source="DOID:0110517", source="MONDO:Redundant", source="OMIM:610212"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18141 ! DCDC2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18141 {source="MONDO:mim2gene_medgen"} ! DCDC2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -282709,7 +281508,6 @@ xref: OMIM:610217 {source="DOID:0110736", source="MONDO:equivalentTo"} xref: Orphanet:35069 {source="OMIM:610217"} xref: UMLS:C1857747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346658"} is_a: MONDO:0018307 {source="DOID:0110736", source="MONDO:Redundant", source="OMIM:610217"} ! neurodegeneration with brain iron accumulation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9039 {source="MONDO:mim2gene_medgen"} ! PLA2G6 [Term] id: MONDO:0012445 @@ -282736,8 +281534,8 @@ xref: OMIM:610220 {source="DOID:0110511", source="MONDO:equivalentTo"} xref: UMLS:C1857744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387899"} is_a: MONDO:0019588 {source="DC-OMIM:610220", source="DOID:0110511", source="MONDO:Redundant", source="OMIM:610220"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29502 ! PJVK -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29502 {source="MONDO:mim2gene_medgen"} ! PJVK +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29502 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29502 {source="OMIM:610220"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -282758,7 +281556,7 @@ xref: OMIM:610227 {source="Orphanet:168606/e", source="MONDO:equivalentTo", sour xref: Orphanet:168606 {source="MONDO:equivalentTo", source="OMIM:610227"} xref: UMLS:C1853258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342832"} is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25843 {source="MONDO:mim2gene_medgen"} ! ZNF750 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25843 {source="OMIM:610227"} [Term] id: MONDO:0012447 @@ -282809,7 +281607,6 @@ is_a: MONDO:0019064 {source="DC-OMIM:610244", source="DOID:0110784", source="MES intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26559 ! ZFYVE27 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012448 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26559 {source="MONDO:mim2gene_medgen"} ! ZFYVE27 [Term] id: MONDO:0012449 @@ -282835,7 +281632,7 @@ xref: Orphanet:101108 {source="OMIM:610245", source="MONDO:equivalentTo"} xref: SCTID:718772002 {source="MONDO:equivalentTo"} xref: UMLS:C1853250 {source="MEDGEN:339942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019792 {source="Orphanet:101108"} ! autosomal dominant cerebellar ataxia type I -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8820 {source="MONDO:mim2gene_medgen"} ! PDYN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8820 {source="OMIM:610245"} [Term] id: MONDO:0012450 @@ -282862,7 +281659,6 @@ xref: SCTID:715824008 {source="MONDO:equivalentTo"} xref: UMLS:C1853249 {source="MEDGEN:339941", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0019792 {source="Orphanet:101109"} ! autosomal dominant cerebellar ataxia type I -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/315 {source="MONDO:mim2gene_medgen"} ! AFG3L2 [Term] id: MONDO:0012451 @@ -282933,7 +281729,6 @@ xref: UMLS:C1853247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019064 {source="DOID:0110782", source="MESH:C565210", source="MONDO:Redundant", source="OMIM:610250", source="Orphanet:101011/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25786 ! REEP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25786 {source="MONDO:mim2gene_medgen"} ! REEP1 [Term] id: MONDO:0012454 @@ -282950,7 +281745,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0021698 {source="OMIM:610251"} ! alcohol-related disorders relationship: disease_has_basis_in_disruption_of GO:0004029 ! aldehyde dehydrogenase (NAD+) activity relationship: has_characteristic PATO:0000389 ! acute -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/404 {source="MONDO:mim2gene_medgen"} ! ALDH2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12634/acute-alcohol-sensitivity" xsd:anyURI {source="GARD:0012634"} [Term] @@ -283027,7 +281821,6 @@ xref: UMLS:C1853230 {source="MEDGEN:339935", source="MONDO:equivalentTo", source is_a: MONDO:0001176 {source="DOID:11367", source="MESH:C537786/inferred", source="NCIT:C35172/inferred"} ! lens disorder is_a: MONDO:0019503 {source="DC-OMIM:610256", source="DOID:0080607", source="OMIM:610256"} ! anterior segment dysgenesis relationship: disease_has_major_feature HP:0007707 ! Congenital aphakia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3808 {source="MONDO:mim2gene_medgen"} ! FOXE3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -283101,8 +281894,8 @@ xref: OMIM:610265 {source="DOID:0110518", source="MONDO:equivalentTo"} xref: UMLS:C1853223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343997"} is_a: MONDO:0019588 {source="DC-OMIM:610265", source="DOID:0110518", source="MONDO:Redundant", source="OMIM:610265"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21253 ! LHFPL5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21253 {source="MONDO:mim2gene_medgen"} ! LHFPL5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21253 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21253 {source="OMIM:610265"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -283160,7 +281953,6 @@ xref: UMLS:C1853214 {source="MEDGEN:339931", source="MONDO:equivalentTo", source is_a: MONDO:0019200 {source="DC-OMIM:610282", source="DOID:0110357", source="MESH:C565206", source="MONDO:Redundant", source="OMIM:610282"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10729 ! SEMA4A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10729 {source="MONDO:mim2gene_medgen"} ! SEMA4A property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10402/retinitis-pigmentosa-35" xsd:anyURI {source="GARD:0010402"} [Term] @@ -283185,7 +281977,6 @@ xref: UMLS:C1846529 {source="MEDGEN:337598", source="MONDO:equivalentTo", source is_a: MONDO:0015993 {source="DC-OMIM:610283", source="DOID:0111017", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:610283"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10729 ! SEMA4A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10729 {source="MONDO:mim2gene_medgen"} ! SEMA4A [Term] id: MONDO:0012465 @@ -283217,7 +282008,7 @@ is_a: MONDO:0017748 {source="Orphanet:83639"} ! inborn disorder of glycosphingol is_a: MONDO:0021181 {source="MONDO:0016633-obsoleted"} ! inherited blood coagulation disorder relationship: has_characteristic MONDO:0021140 ! congenital relationship: has_characteristic SO:1000008 ! point_mutation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18858 {source="MONDO:mim2gene_medgen"} ! PIGM +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18858 {source="OMIM:610293"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9965/hypercoagulability-syndrome-due-to-glycosylphosphatidylinositol-deficiency" xsd:anyURI {source="GARD:0009965"} [Term] @@ -283239,7 +282030,6 @@ xref: UMLS:C1853202 {source="MEDGEN:343992", source="MONDO:equivalentTo", source intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14348 ! HTRA2 intersection_of: predisposes_towards MONDO:0005180 ! Parkinson disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14348 {source="MONDO:mim2gene_medgen"} ! HTRA2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -283265,8 +282055,8 @@ xref: Orphanet:157820 {source="OMIM:610313"} xref: UMLS:C1853198 {source="MEDGEN:342816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015526 {source="DC-OMIM:610313", source="DOID:0080330", source="MONDO:Redundant", source="OMIM:610313"} ! cold-induced sweating syndrome intersection_of: MONDO:0015526 ! cold-induced sweating syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17412 ! CLCF1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17412 {source="MONDO:mim2gene_medgen"} ! CLCF1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17412 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17412 {source="OMIM:610313"} [Term] id: MONDO:0012468 @@ -283330,10 +282120,10 @@ xref: UMLS:C1835916 {source="MEDGEN:324389", source="MONDO:equivalentTo", source is_a: MONDO:0018866 {source="DC-OMIM:610329", source="MONDO:Redundant", source="OMIM:610329"} ! Aicardi-Goutieres syndrome is_a: MONDO:0700258 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! RNASEH2C-related type 1 interferonopathy intersection_of: MONDO:0018866 ! Aicardi-Goutieres syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24116 ! RNASEH2C +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24116 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610329"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24116 {source="MONDO:mim2gene_medgen"} ! RNASEH2C +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24116 {source="OMIM:610329"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI [Term] @@ -283358,10 +282148,10 @@ xref: UMLS:C1835912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018866 {source="DC-OMIM:610333", source="MONDO:Redundant", source="OMIM:610333"} ! Aicardi-Goutieres syndrome is_a: MONDO:0700259 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! RNASEH2A-related type 1 interferonopathy intersection_of: MONDO:0018866 ! Aicardi-Goutieres syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18518 ! RNASEH2A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18518 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610333"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18518 {source="MONDO:mim2gene_medgen"} ! RNASEH2A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18518 {source="OMIM:610333"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI [Term] @@ -283409,8 +282199,8 @@ xref: UMLS:C1835905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000030 {source="DC-OMIM:610353", source="OMIM:610353"} ! sleep-related hypermotor epilepsy is_a: MONDO:0020300 {source="DOID:0060685", source="MONDO:Redundant"} ! autosomal dominant nocturnal frontal lobe epilepsy intersection_of: MONDO:0020300 ! autosomal dominant nocturnal frontal lobe epilepsy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1956 ! CHRNA2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1956 {source="MONDO:mim2gene_medgen"} ! CHRNA2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1956 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1956 {source="OMIM:610353"} [Term] id: MONDO:0012475 @@ -283443,7 +282233,7 @@ xref: Orphanet:209932 {source="MONDO:equivalentTo", source="OMIM:610356"} xref: SCTID:719455002 {source="MONDO:equivalentTo"} xref: UMLS:C1835897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332081"} is_a: MONDO:0000455 {source="DC-OMIM:610356", source="DOID:0081022"} ! cone dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19698 {source="MONDO:mim2gene_medgen"} ! KCNV2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19698 {source="OMIM:610356"} [Term] id: MONDO:0012476 @@ -283476,7 +282266,6 @@ is_a: MONDO:0019064 {source="DOID:0110781", source="MONDO:Redundant", source="OM is_a: MONDO:0700055 {source="https://orcid.org/0000-0002-8134-1207"} ! KIF1A related neurological disorder intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/888 ! KIF1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/888 {source="MONDO:mim2gene_medgen"} ! KIF1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -283502,9 +282291,9 @@ xref: UMLS:C1835895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:610359", source="DOID:0110366", source="MESH:C563676", source="MONDO:Redundant", source="OMIM:610359"} ! retinitis pigmentosa is_a: MONDO:0800098 {source="https://clinicalgenome.org/affiliation/40072/"} ! SNRNP200-related dominant retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30859 ! SNRNP200 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30859 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30859 {source="MONDO:mim2gene_medgen"} ! SNRNP200 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30859 {source="OMIM:610359"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10400/retinitis-pigmentosa-33" xsd:anyURI {source="GARD:0010400"} @@ -283556,9 +282345,9 @@ xref: SCTID:722392003 {source="MONDO:equivalentTo"} xref: UMLS:C1835888 {source="MEDGEN:372151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000824 {source="DC-OMIM:610370", source="DOID:0060779", source="MONDO:Redundant", source="OMIM:610370"} ! congenital diarrhea intersection_of: MONDO:0000824 ! congenital diarrhea -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13806 ! NEUROG3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13806 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13806 {source="MONDO:mim2gene_medgen"} ! NEUROG3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13806 {source="OMIM:610370"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -283584,7 +282373,6 @@ xref: UMLS:C1835887 {source="MEDGEN:372150", source="MONDO:equivalentTo", source is_a: MONDO:0020525 {source="DC-OMIM:610374", source="MONDO:Redundant"} ! transient neonatal diabetes mellitus intersection_of: MONDO:0020525 ! transient neonatal diabetes mellitus intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/59 ! ABCC8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/59 {source="MONDO:mim2gene_medgen"} ! ABCC8 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -283624,7 +282412,6 @@ is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C84890", source="Orp is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0017708 {source="Orphanet:29", source="https://clinicalgenome.org/affiliation/40049/"} ! mevalonate kinase deficiency relationship: excluded_subClassOf MONDO:0019053 {source="DOID:0050452", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisomal disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7530 {source="MONDO:mim2gene_medgen"} ! MVK property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria" xsd:anyURI {source="GARD:0003588"} [Term] @@ -283638,7 +282425,6 @@ xref: OMIM:610379 {source="MONDO:equivalentTo"} xref: UMLS:C1835867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372145"} is_a: MONDO:0020573 {source="OMIM:610379", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0019376 {source="Orphanet:83476/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! West-Nile encephalitis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1606 {source="MONDO:mim2gene_medgen"} ! CCR5 relationship: predisposes_towards MONDO:0019376 {source="OMIM:610379"} ! West-Nile encephalitis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -283664,7 +282450,6 @@ xref: UMLS:C1835865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015993 {source="DC-OMIM:610381", source="DOID:0111018", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:610381"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18286 ! RAX2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18286 {source="MONDO:mim2gene_medgen"} ! RAX2 [Term] id: MONDO:0012484 @@ -283710,8 +282495,8 @@ xref: Orphanet:90636 {source="OMIM:610419"} xref: UMLS:C1835854 {source="MEDGEN:324374", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:610419", source="DOID:0110519", source="MONDO:Redundant", source="OMIM:610419"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3169 ! S1PR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3169 {source="MONDO:mim2gene_medgen"} ! S1PR2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3169 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3169 {source="OMIM:610419"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -283791,8 +282576,8 @@ xref: UMLS:C3808012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005129 {source="DOID:0110271", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:610425"} ! cataract is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2396 ! CRYBA4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2396 {source="MONDO:mim2gene_medgen"} ! CRYBA4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2396 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2396 {source="OMIM:610425"} [Term] id: MONDO:0012490 @@ -283812,7 +282597,7 @@ xref: Orphanet:215 {source="OMIM:610427"} xref: UMLS:C4041558 {source="MEDGEN:874422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016293 {source="DC-OMIM:610427"} ! congenital stationary night blindness relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1386 {source="MONDO:mim2gene_medgen"} ! CABP4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1386 {source="OMIM:610427"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -283874,7 +282659,6 @@ xref: MESH:C566478 {source="MONDO:equivalentTo"} xref: OMIM:610441 {source="MONDO:equivalentTo"} xref: UMLS:C1864873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355854"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11020 {source="MONDO:mim2gene_medgen"} ! SLC34A2 property_value: IAO:0000589 "testicular microlithiasis (disease)" xsd:string [Term] @@ -283907,7 +282691,7 @@ xref: Orphanet:168454 {source="OMIM:610442", source="MONDO:equivalentTo"} xref: UMLS:C1864872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355314"} is_a: MONDO:0100510 {source="DOID:0080576", source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:610442", source="Orphanet:168454", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19237 {source="MONDO:mim2gene_medgen"} ! NANS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19237 {source="OMIM:610442"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI @@ -283950,7 +282734,7 @@ xref: UMLS:C1864871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015159 {source="Orphanet:96169"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012496 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070076", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24565 {source="MONDO:mim2gene_medgen"} ! KANSL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24565 {source="OMIM:610443"} [Term] id: MONDO:0012497 @@ -283976,7 +282760,6 @@ intersection_of: MONDO:0016293 ! congenital stationary night blindness intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4393 ! GNAT1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4393 {source="MONDO:mim2gene_medgen"} ! GNAT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -284003,7 +282786,6 @@ is_a: MONDO:0016293 {source="DC-OMIM:610445", source="DOID:0110862", source="MON intersection_of: MONDO:0016293 ! congenital stationary night blindness intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10012 ! RHO relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10012 {source="MONDO:mim2gene_medgen"} ! RHO property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -284018,7 +282800,6 @@ xref: OMIM:610446 {source="MONDO:equivalentTo"} xref: UMLS:C1864868 {source="MONDO:equivalentTo", source="MEDGEN:355851", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:610446", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10907 {source="MONDO:mim2gene_medgen"} ! SLC11A1 relationship: predisposes_towards MONDO:0000327 {source="OMIM:610446"} ! Buruli ulcer disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -284045,7 +282826,6 @@ is_a: MONDO:0019557 {source="DC-OMIM:610448", source="OMIM:610448"} ! chilblain is_a: MONDO:0700256 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! TREX1-related type 1 interferonopathy intersection_of: MONDO:0019557 ! chilblain lupus intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12269 ! TREX1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12269 {source="MONDO:mim2gene_medgen"} ! TREX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI @@ -284083,7 +282863,6 @@ xref: Orphanet:306658 {source="MONDO:equivalentTo", source="OMIM:610455"} xref: Orphanet:53715 {source="OMIM:610455"} xref: UMLS:C1864861 {source="MEDGEN:355311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018891 {source="DC-OMIM:610455", source="Orphanet:306658"} ! familial tumoral calcinosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1348 {source="MONDO:mim2gene_medgen"} ! SAMD9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10878/normophosphatemic-familial-tumoral-calcinosis" xsd:anyURI {source="GARD:0010878"} @@ -284121,7 +282900,7 @@ is_a: MONDO:0019052 {source="DOID:0080172", source="MESH:C536512/inferred", sour intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0008119 ! thiopurine S-methyltransferase activity relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12014 {source="MONDO:mim2gene_medgen"} ! TPMT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12014 {source="OMIM:610460"} [Term] id: MONDO:0012504 @@ -284148,7 +282927,6 @@ xref: UMLS:C1864852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000429 {source="DOID:0111160"} ! autosomal genetic disease is_a: MONDO:0019685 {source="Orphanet:85164", source="PMID:31633310"} ! FGFR3-related chondrodysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012504 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -284173,8 +282951,8 @@ xref: Orphanet:189439 {source="OMIM:610475"} xref: UMLS:C1864851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355843"} is_a: MONDO:0015999 {source="DC-OMIM:610475", source="MONDO:Redundant", source="OMIM:610475"} ! primary pigmented nodular adrenocortical disease intersection_of: MONDO:0015999 ! primary pigmented nodular adrenocortical disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8773 ! PDE11A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8773 {source="MONDO:mim2gene_medgen"} ! PDE11A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8773 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8773 {source="OMIM:610475"} [Term] id: MONDO:0012506 @@ -284210,7 +282988,6 @@ is_a: MONDO:0016342 {source="DOID:0110082", source="MESH:C566471", source="MONDO intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3036 ! DSC2 relationship: excluded_subClassOf MONDO:0100080 {source="https://github.com/monarch-initiative/mondo/issues/2116", source="https://github.com/monarch-initiative/mondo/issues/577", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6733-369X"} ! cardioectodermal syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3036 {source="MONDO:mim2gene_medgen"} ! DSC2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -284235,9 +283012,9 @@ is_a: MONDO:0000455 {source="DC-OMIM:610478", source="DOID:0081023", source="MON is_a: MONDO:0015993 ! cone-rod dystrophy is_a: MONDO:0700244 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! CACNA2D4-related retinopathy intersection_of: MONDO:0000455 ! cone dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20202 ! CACNA2D4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20202 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20202 {source="MONDO:mim2gene_medgen"} ! CACNA2D4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20202 {source="OMIM:610478"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10650/retinal-cone-dystrophy-4" xsd:anyURI {source="GARD:0010650"} @@ -284292,7 +283069,6 @@ xref: UMLS:C1864846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015999 {source="DC-OMIM:610489", source="MONDO:Redundant", source="OMIM:610489"} ! primary pigmented nodular adrenocortical disease intersection_of: MONDO:0015999 ! primary pigmented nodular adrenocortical disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9388 ! PRKAR1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9388 {source="MONDO:mim2gene_medgen"} ! PRKAR1A [Term] id: MONDO:0012510 @@ -284322,8 +283098,8 @@ xref: UMLS:C1864843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000732 {source="DC-OMIM:610498", source="DOID:0111483", source="MONDO:Redundant", source="OMIM:610498"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14048 ! MRPS16 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14048 {source="MONDO:mim2gene_medgen"} ! MRPS16 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14048 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14048 {source="OMIM:610498"} [Term] id: MONDO:0012511 @@ -284342,7 +283118,6 @@ xref: SCTID:312974005 {source="MONDO:equivalentTo"} xref: UMLS:C0729264 {source="MEDGEN:147582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002263 {source="DOID:0111144"} ! female reproductive system disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1546 {source="MONDO:mim2gene_medgen"} ! SERPINH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -284375,8 +283150,8 @@ xref: UMLS:C1864840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000732 {source="DC-OMIM:610505", source="DOID:0111486", source="MONDO:Redundant", source="OMIM:610505"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12367 ! TSFM -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12367 {source="MONDO:mim2gene_medgen"} ! TSFM +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12367 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12367 {source="OMIM:610505"} [Term] id: MONDO:0012513 @@ -284404,8 +283179,8 @@ xref: SCTID:609574004 {source="MONDO:equivalentTo"} xref: UMLS:C1864839 {source="MEDGEN:351232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018911 {source="DC-OMIM:610508", source="DOID:0111106", source="MONDO:Redundant"} ! maturity-onset diabetes of the young intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11811 ! KLF11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11811 {source="MONDO:mim2gene_medgen"} ! KLF11 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11811 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11811 {source="OMIM:610508"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10661/maturity-onset-diabetes-of-the-young-type-7" xsd:anyURI {source="GARD:0010661"} @@ -284446,7 +283221,6 @@ is_a: MONDO:0019046 {source="DOID:0060793", source="DOID:0060793/inferred", sour intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24587 ! HYCC1 relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:85163", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24587 {source="MONDO:mim2gene_medgen"} ! HYCC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -284502,7 +283276,7 @@ is_a: MONDO:0018237 {source="Orphanet:79113"} ! acrofacial dysostosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012516 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:79113", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610536", source="Orphanet:79113"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30858 {source="MONDO:mim2gene_medgen"} ! EFTUD2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30858 {source="OMIM:610536"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -284535,7 +283309,6 @@ xref: UMLS:C1864651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0100517 {source="https://clinicalgenome.org/affiliation/50009/"} ! PSAP-related sphingolipidosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012517 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018150 {source="DC-OMIM:610539", source="DOID:0110961", source="MESH:C566435", source="Orphanet:309252", source="https://orcid.org/0000-0001-5208-3432"} ! Gaucher disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9498 {source="MONDO:mim2gene_medgen"} ! PSAP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6019" xsd:anyURI [Term] @@ -284564,7 +283337,7 @@ xref: Orphanet:353327 {source="OMIM:610542"} xref: Orphanet:590 {source="OMIM:610542"} xref: UMLS:C3552335 {source="MONDO:equivalentTo", source="MEDGEN:765249", source="MONDO:MEDGEN"} is_a: MONDO:0000182 {source="DC-OMIM:610542", source="OMIM:610542"} ! congenital myasthenic syndrome with tubular aggregates -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4241 {source="MONDO:mim2gene_medgen"} ! GFPT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4241 {source="OMIM:610542"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI @@ -284627,7 +283400,6 @@ xref: Orphanet:2297 {source="MONDO:equivalentTo", source="OMIM:610549"} xref: UMLS:C0342278 {source="MEDGEN:501111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001933 {source="MONDO:Redundant", source="NCIT:C131836"} ! endocrine pancreas disorder relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6091 {source="MONDO:mim2gene_medgen"} ! INSR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI [Term] @@ -284694,7 +283466,6 @@ xref: UMLS:C1864623 {source="MEDGEN:351177", source="MONDO:equivalentTo", source is_a: MONDO:0020525 {source="DC-OMIM:610582", source="MONDO:Redundant"} ! transient neonatal diabetes mellitus intersection_of: MONDO:0020525 ! transient neonatal diabetes mellitus intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6257 ! KCNJ11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6257 {source="MONDO:mim2gene_medgen"} ! KCNJ11 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -284719,8 +283490,8 @@ xref: OMIM:610599 {source="DOID:0110405", source="MONDO:equivalentTo"} xref: UMLS:C1864621 {source="MEDGEN:351175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019200 {source="DC-OMIM:610599", source="DOID:0110405", source="MESH:C566431", source="MONDO:Redundant", source="OMIM:610599"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32528 ! PRCD -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32528 {source="MONDO:mim2gene_medgen"} ! PRCD +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32528 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32528 {source="OMIM:610599"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10403/retinitis-pigmentosa-36" xsd:anyURI {source="GARD:0010403"} [Term] @@ -284744,7 +283515,6 @@ xref: Orphanet:427 {source="OMIM:610600"} xref: Orphanet:99763 {source="OMIM:610600"} xref: UMLS:C3463917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483046"} is_a: MONDO:0018541 {source="https://orcid.org/0000-0001-5208-3432"} ! familial hypoaldosteronism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2592 {source="MONDO:mim2gene_medgen"} ! CYP11B2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6813" xsd:anyURI @@ -284771,10 +283541,10 @@ xref: UMLS:C1857743 {source="MONDO:equivalentTo", source="MEDGEN:347535", source is_a: MONDO:0018998 {source="DC-OMIM:610612", source="DOID:0110080", source="MESH:C565697", source="MONDO:Redundant", source="OMIM:610612"} ! Leber congenital amaurosis is_a: MONDO:0700235 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! RD3-related retinopathy intersection_of: MONDO:0018998 ! Leber congenital amaurosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19689 ! RD3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19689 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19689 {source="MONDO:mim2gene_medgen"} ! RD3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19689 {source="OMIM:610612"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10489/leber-congenital-amaurosis-12" xsd:anyURI {source="GARD:0010489"} @@ -284828,7 +283598,6 @@ is_a: MONDO:0019623 {source="DOID:0080940", source="OMIM:610618"} ! hereditary a intersection_of: MONDO:0019623 ! hereditary angioedema intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3530 ! F12 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012526 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3530 {source="MONDO:mim2gene_medgen"} ! F12 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -284862,7 +283631,6 @@ is_a: MONDO:0005129 {source="DOID:0110249", source="MESH:C535344", source="MONDO is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9006 ! PITX3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9006 {source="MONDO:mim2gene_medgen"} ! PITX3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -284890,9 +283658,9 @@ xref: UMLS:C3552343 {source="MEDGEN:765257", source="MONDO:equivalentTo", source is_a: MONDO:0018555 {source="DOID:0090077", source="MONDO:0012528/inferred", source="MONDO:Redundant", source="OMIM:610628"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="MESH:C565696", source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18455 ! PROK2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18455 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012528 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18455 {source="MONDO:mim2gene_medgen"} ! PROK2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18455 {source="OMIM:610628"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10772/kallmann-syndrome-4" xsd:anyURI {source="GARD:0010772"} [Term] @@ -284922,8 +283690,8 @@ xref: Orphanet:124 {source="OMIM:610629"} xref: UMLS:C1857719 {source="MEDGEN:387892", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015253 {source="DC-OMIM:610629", source="DOID:0111887", source="MESH:C536355", source="MONDO:Redundant", source="OMIM:610629"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10411 ! RPS24 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10411 {source="MONDO:mim2gene_medgen"} ! RPS24 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10411 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10411 {source="OMIM:610629"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10241/diamond-blackfan-anemia-3" xsd:anyURI {source="GARD:0010241"} [Term] @@ -284950,7 +283718,6 @@ xref: UMLS:C3149931 {source="MEDGEN:461281", source="MONDO:equivalentTo", source is_a: MONDO:0017576 {source="Orphanet:85112"} ! 46,XX disorder of sex development is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610644", source="Orphanet:85112"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21679 {source="MONDO:mim2gene_medgen"} ! RSPO1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -284994,7 +283761,6 @@ is_a: MONDO:0019600 {source="DC-OMIM:610651", source="DOID:0110850", source="MES intersection_of: MONDO:0019600 ! xeroderma pigmentosum intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3435 ! ERCC3 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012531 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3435 {source="MONDO:mim2gene_medgen"} ! ERCC3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -285058,8 +283824,8 @@ xref: UMLS:C1857682 {source="MEDGEN:387884", source="MONDO:equivalentTo", source is_a: MONDO:0000732 {source="DC-OMIM:610678", source="DOID:0111494", source="MONDO:Redundant", source="OMIM:610678"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12420 ! TUFM -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12420 {source="MONDO:mim2gene_medgen"} ! TUFM +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12420 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12420 {source="OMIM:610678"} [Term] id: MONDO:0012535 @@ -285104,8 +283870,8 @@ xref: UMLS:C1853162 {source="MEDGEN:343981", source="MONDO:equivalentTo", source is_a: MONDO:0019019 {source="DC-OMIM:610682", source="DOID:0110337", source="MONDO:Redundant", source="OMIM:610682"} ! osteogenesis imperfecta is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0019019 ! osteogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2379 ! CRTAP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2379 {source="MONDO:mim2gene_medgen"} ! CRTAP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2379 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2379 {source="OMIM:610682"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -285148,9 +283914,9 @@ xref: UMLS:C1853154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy is_a: MONDO:0018958 {source="DOID:0110934", source="MESH:C565198", source="MONDO:Redundant", source="OMIM:610687"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1875 ! CFL2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1875 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012538 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1875 {source="MONDO:mim2gene_medgen"} ! CFL2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1875 {source="OMIM:610687"} [Term] id: MONDO:0012539 @@ -285174,7 +283940,6 @@ xref: UMLS:C1853153 {source="MEDGEN:342805", source="MONDO:equivalentTo", source is_a: MONDO:0018772 {source="DC-OMIM:610688", source="DOID:0111001", source="MONDO:Redundant", source="OMIM:610688"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28396 ! TMEM67 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28396 {source="MONDO:mim2gene_medgen"} ! TMEM67 [Term] id: MONDO:0012540 @@ -285198,7 +283963,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005150 {source="DC-OMIM:610698", source="DOID:0110017", source="MONDO:Redundant", source="OMIM:610698"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4883 ! CFH -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4883 {source="MONDO:mim2gene_medgen"} ! CFH [Term] id: MONDO:0012541 @@ -285234,7 +283998,7 @@ xref: SCTID:702360007 {source="MONDO:equivalentTo"} xref: UMLS:C1853144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342803"} is_a: MONDO:0003847 {source="Orphanet:90024/inferred"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012541 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3681 {source="MONDO:mim2gene_medgen"} ! FGF3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3681 {source="OMIM:610706"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -285270,7 +284034,6 @@ xref: Orphanet:98673 {source="OMIM:610708"} xref: UMLS:C1853139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377837"} is_a: MONDO:0043878 {source="MESH:C537126/inferred", source="MONDO:Redundant", source="OMIM:610708"} ! hereditary optic atrophy relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610708"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2973 {source="MONDO:mim2gene_medgen"} ! DNM1L [Term] id: MONDO:0012544 @@ -285298,7 +284061,6 @@ xref: Orphanet:93409 {source="MONDO:equivalentTo", source="OMIM:610713"} xref: UMLS:C1853137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377836"} is_a: MONDO:0000429 {source="DOID:0050689"} ! autosomal genetic disease is_a: MONDO:0005172 {source="https://orcid.org/0000-0001-5208-3432"} ! skeletal system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 {source="MONDO:mim2gene_medgen"} ! HOXD13 [Term] id: MONDO:0012545 @@ -285325,7 +284087,7 @@ xref: SCTID:699315005 {source="MONDO:equivalentTo"} xref: UMLS:C1853136 {source="MEDGEN:339913", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015611 {source="Orphanet:98908"} ! neutral lipid storage disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012545 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30802 {source="MONDO:mim2gene_medgen"} ! PNPLA2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30802 {source="OMIM:610717"} [Term] id: MONDO:0012546 @@ -285347,8 +284109,8 @@ is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:610725"} ! familial is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:610725"} ! nephrotic syndrome is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17175 ! PLCE1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17175 {source="MONDO:mim2gene_medgen"} ! PLCE1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17175 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17175 {source="OMIM:610725"} [Term] id: MONDO:0012547 @@ -285374,7 +284136,6 @@ xref: UMLS:C1853120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018997 {source="DC-OMIM:610733", source="DOID:0060582", source="MESH:C548082", source="MONDO:Redundant", source="OMIM:610733"} ! Noonan syndrome intersection_of: MONDO:0018997 ! Noonan syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11187 ! SOS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11187 {source="MONDO:mim2gene_medgen"} ! SOS1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10699/noonan-syndrome-4" xsd:anyURI {source="GARD:0010699"} [Term] @@ -285408,7 +284169,7 @@ is_a: MONDO:0015356 {source="Orphanet:99749"} ! hereditary neoplastic syndrome is_a: MONDO:0018542 {source="DC-OMIM:610738", source="OMIM:610738", source="Orphanet:99749", source="Orphanet:99749/inferred"} ! severe congenital neutropenia is_a: MONDO:0028226 {source="Orphanet:99749"} ! autosomal recessive severe congenital neutropenia relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16915 {source="MONDO:mim2gene_medgen"} ! HAX1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16915 {source="OMIM:610738"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -285441,7 +284202,6 @@ xref: OMIM:610743 {source="Orphanet:88644", source="MONDO:equivalentTo", source= xref: Orphanet:88644 {source="MONDO:equivalentTo", source="OMIM:610743"} xref: UMLS:C1853116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343973"} is_a: MONDO:0015244 {source="DOID:0111618", source="OMIM:610743", source="Orphanet:88644"} ! autosomal recessive cerebellar ataxia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17089 {source="MONDO:mim2gene_medgen"} ! SYNE1 [Term] id: MONDO:0012550 @@ -285502,10 +284262,10 @@ is_a: MONDO:0000426 {source="DOID:0080137", source="MONDO:Redundant"} ! autosoma is_a: MONDO:0015356 {source="MESH:C567059/inferred", source="MONDO:Entailed", source="MONDO:indirect"} ! hereditary neoplastic syndrome is_a: MONDO:0017169 {source="DC-OMIM:610755", source="DOID:0080137", source="MONDO:Redundant", source="NCIT:C157449", source="OMIM:610755", source="Orphanet:276152"} ! multiple endocrine neoplasia intersection_of: MONDO:0017169 ! multiple endocrine neoplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1785 ! CDKN1B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1785 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012552 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610755", source="Orphanet:276152"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1785 {source="MONDO:mim2gene_medgen"} ! CDKN1B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1785 {source="OMIM:610755"} [Term] id: MONDO:0012553 @@ -285531,7 +284291,6 @@ is_a: MONDO:0008926 {source="DC-OMIM:610756", source="DOID:0080912", source="MON intersection_of: MONDO:0008926 ! COFS syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3434 ! ERCC2 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610756"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3434 {source="MONDO:mim2gene_medgen"} ! ERCC2 [Term] id: MONDO:0012554 @@ -285556,9 +284315,9 @@ xref: Orphanet:191 {source="OMIM:610758"} xref: UMLS:C1853100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342798"} is_a: MONDO:0008926 {source="DC-OMIM:610758", source="DOID:0080914", source="MONDO:Redundant", source="OMIM:610758"} ! COFS syndrome intersection_of: MONDO:0008926 ! COFS syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3433 ! ERCC1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3433 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610758"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3433 {source="MONDO:mim2gene_medgen"} ! ERCC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3433 {source="OMIM:610758"} [Term] id: MONDO:0012555 @@ -285584,8 +284343,8 @@ xref: UMLS:C1853099 {source="MEDGEN:339902", source="MONDO:equivalentTo", source is_a: MONDO:0016033 {source="DC-OMIM:610759", source="DOID:0080507", source="MONDO:Redundant", source="OMIM:610759"} ! Cornelia de Lange syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0016033 ! Cornelia de Lange syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2468 ! SMC3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2468 {source="MONDO:mim2gene_medgen"} ! SMC3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2468 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2468 {source="OMIM:610759"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -285630,7 +284389,7 @@ is_a: MONDO:0015286 {source="MESH:C563666", source="MONDO:0012556/inferred", sou is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0017749 {source="Orphanet:91131"} ! disorder of multiple glycosylation relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23406 {source="MONDO:mim2gene_medgen"} ! DOLK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23406 {source="OMIM:610768"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -285660,7 +284419,7 @@ is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0006040 {source="https://orcid.org/0000-0001-5208-3432"} ! lactic acidosis is_a: MONDO:0016801 {source="Orphanet:91130"} ! mitochondrial substrate carrier disorder relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610773", source="Orphanet:91130"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10989 {source="MONDO:mim2gene_medgen"} ! SLC25A3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10989 {source="OMIM:610773"} [Term] id: MONDO:0012558 @@ -285697,7 +284456,7 @@ xref: Orphanet:90023 {source="MONDO:equivalentTo", source="OMIM:610798"} xref: SCTID:718717004 {source="MONDO:equivalentTo"} xref: UMLS:C1835829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372135"} is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29796 {source="MONDO:mim2gene_medgen"} ! LAMTOR2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29796 {source="OMIM:610798"} [Term] id: MONDO:0012560 @@ -285731,7 +284490,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0019719 {source="DOID:0080206", source="MONDO:Redundant", source="OMIM:610805"} ! congenital anomaly of kidney and urinary tract intersection_of: MONDO:0019719 ! congenital anomaly of kidney and urinary tract intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29043 ! DSTYK -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29043 {source="MONDO:mim2gene_medgen"} ! DSTYK [Term] id: MONDO:0012562 @@ -285754,7 +284512,6 @@ xref: UMLS:C1835820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016296 {source="DC-OMIM:610828", source="DOID:0110876", source="MESH:C563660", source="MONDO:Redundant", source="OMIM:610828"} ! holoprosencephaly intersection_of: MONDO:0016296 ! holoprosencephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9585 ! PTCH1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9585 {source="MONDO:mim2gene_medgen"} ! PTCH1 [Term] id: MONDO:0012563 @@ -285782,7 +284539,6 @@ is_a: MONDO:0019756 ! lobar holoprosencephaly is_a: MONDO:0019757 ! alobar holoprosencephaly intersection_of: MONDO:0016296 ! holoprosencephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4318 ! GLI2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4318 {source="MONDO:mim2gene_medgen"} ! GLI2 [Term] id: MONDO:0012564 @@ -285825,7 +284581,6 @@ is_a: MONDO:0019391 {source="DC-OMIM:610832", source="DOID:0111094", source="MES intersection_of: MONDO:0019391 ! Fanconi anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26144 ! PALB2 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012565 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26144 {source="MONDO:mim2gene_medgen"} ! PALB2 [Term] id: MONDO:0012566 @@ -285913,7 +284668,6 @@ xref: UMLS:C1835813 {source="MEDGEN:332067", source="MONDO:equivalentTo", source is_a: MONDO:0100118 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary skin disorder relationship: disease_arises_from_feature HP:0001928 ! Abnormality of coagulation relationship: disease_shares_features_of MONDO:0024308 ! pseudoxanthoma elasticum (inherited or acquired) -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4247 {source="MONDO:mim2gene_medgen"} ! GGCX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI [Term] @@ -285939,9 +284693,9 @@ xref: OMIM:610852 {source="DOID:0110606", source="MONDO:equivalentTo"} xref: UMLS:C1970506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370930"} is_a: MONDO:0016575 {source="DC-OMIM:610852", source="DOID:0110606", source="MESH:C567057", source="MONDO:Redundant", source="OMIM:610852"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16473 ! NME8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16473 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012571 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16473 {source="MONDO:mim2gene_medgen"} ! NME8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16473 {source="OMIM:610852"} [Term] id: MONDO:0012572 @@ -285977,8 +284731,8 @@ xref: Orphanet:289365 {source="OMIM:610878"} xref: UMLS:C1970483 {source="MEDGEN:370270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017329 {source="MESH:C567053", source="MONDO:Redundant", source="OMIM:610878", source="Orphanet:289365/btnt"} ! familial vesicoureteral reflux intersection_of: MONDO:0017329 ! familial vesicoureteral reflux -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10250 ! ROBO2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10250 {source="MONDO:mim2gene_medgen"} ! ROBO2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10250 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10250 {source="OMIM:610878"} [Term] id: MONDO:0012574 @@ -286016,7 +284770,6 @@ is_a: MONDO:0000762 {source="DOID:0060853"} ! syndrome caused by partial chromos is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124846"} ! syndromic disease is_a: MONDO:0016950 {source="Orphanet:1713"} ! partial duplication of the short arm of chromosome 17 relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1713", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27310 {source="MONDO:mim2gene_medgen"} ! FLCN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -286039,9 +284792,9 @@ xref: Orphanet:107 {source="OMIM:610896"} xref: UMLS:C1970479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:410081"} is_a: MONDO:0007029 {source="DC-OMIM:610896", source="DOID:0111424", source="MONDO:Redundant", source="OMIM:610896"} ! branchio-oto-renal syndrome intersection_of: MONDO:0007029 ! branchio-oto-renal syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10891 ! SIX5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10891 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610896"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10891 {source="MONDO:mim2gene_medgen"} ! SIX5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10891 {source="OMIM:610896"} [Term] id: MONDO:0012576 @@ -286197,8 +284950,8 @@ xref: UMLS:C1970458 {source="MEDGEN:410075", source="MONDO:equivalentTo", source is_a: MONDO:0019019 {source="DC-OMIM:610915", source="DOID:0110336", source="MESH:C536049", source="MONDO:Redundant", source="OMIM:610915"} ! osteogenesis imperfecta is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0019019 ! osteogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19316 ! P3H1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19316 {source="MONDO:mim2gene_medgen"} ! P3H1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19316 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19316 {source="OMIM:610915"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -286226,7 +284979,7 @@ xref: Orphanet:264675 {source="OMIM:610921"} xref: Orphanet:440402 {source="MONDO:equivalentTo"} xref: UMLS:C1970456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:410074"} is_a: MONDO:0012580 {source="OMIM:610921"} ! hereditary pulmonary alveolar proteinosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33 {source="MONDO:mim2gene_medgen"} ! ABCA3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33 {source="OMIM:610921"} [Term] id: MONDO:0012583 @@ -286265,7 +285018,6 @@ xref: UMLS:C1970455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2336 ! CR2 intersection_of: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2336 {source="MONDO:mim2gene_medgen"} ! CR2 [Term] id: MONDO:0012585 @@ -286284,7 +285036,6 @@ xref: UMLS:C1970441 {source="MEDGEN:370260", source="MONDO:equivalentTo", source intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1663 ! CD36 intersection_of: predisposes_towards MONDO:0005010 ! coronary artery disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1663 {source="MONDO:mim2gene_medgen"} ! CD36 [Term] id: MONDO:0012586 @@ -286306,7 +285057,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005010 {source="DC-OMIM:610947", source="MESH:C567045", source="MONDO:Redundant"} ! coronary artery disorder intersection_of: MONDO:0005010 ! coronary artery disorder intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6698 ! LRP6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6698 {source="MONDO:mim2gene_medgen"} ! LRP6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -286358,7 +285108,6 @@ is_a: MONDO:0015674 {source="Orphanet:228366"} ! late infantile neuronal ceroid is_a: MONDO:0016295 {source="DOID:0110722", source="MONDO:Redundant", source="OMIM:610951", source="Orphanet:228366", source="Orphanet:228366/inferred"} ! neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28486 ! MFSD8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28486 {source="MONDO:mim2gene_medgen"} ! MFSD8 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7" xsd:anyURI {source="GARD:0001220"} [Term] @@ -286398,7 +285147,6 @@ is_a: MONDO:0015159 {source="Orphanet:2896"} ! multiple congenital anomalies/dys relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012589 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2896", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:2896", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11634 {source="MONDO:mim2gene_medgen"} ! TCF4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome" xsd:anyURI {source="GARD:0004372"} @@ -286418,7 +285166,6 @@ xref: OMIM:610965 {source="MONDO:equivalentTo", source="DOID:0060590"} xref: UMLS:C1970416 {source="MEDGEN:410064", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="DOID:0060590"} ! syndromic disease is_a: MONDO:0003847 {source="MESH:C567043/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3436 {source="MONDO:mim2gene_medgen"} ! ERCC4 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10628/xfe-progeroid-syndrome" xsd:anyURI {source="GARD:0010628"} [Term] @@ -286454,8 +285201,8 @@ xref: UMLS:C2931093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019019 {source="DC-OMIM:610967", source="DOID:0110344", source="MESH:C567042", source="MONDO:Redundant", source="OMIM:610967", source="Orphanet:216828"} ! osteogenesis imperfecta is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0019019 ! osteogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16644 ! IFITM5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16644 {source="MONDO:mim2gene_medgen"} ! IFITM5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16644 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16644 {source="OMIM:610967"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -286487,7 +285234,6 @@ is_a: MONDO:0019019 {source="DC-OMIM:610968", source="DOID:0110351", source="MON is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0019019 ! osteogenesis imperfecta intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18169 ! FKBP10 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18169 {source="MONDO:mim2gene_medgen"} ! FKBP10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -286520,7 +285266,6 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder is_a: MONDO:0005395 ! movement disorder relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11825 {source="MONDO:mim2gene_medgen"} ! NKX2-1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI @@ -286553,7 +285298,6 @@ xref: OMIM:610984 {source="Orphanet:200418/e", source="MONDO:equivalentTo", sour xref: Orphanet:200418 {source="MONDO:equivalentTo", source="OMIM:610984"} xref: UMLS:C3463916 {source="MEDGEN:483045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003832 {source="DOID:0050419"} ! complement deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5394 {source="MONDO:mim2gene_medgen"} ! CFI [Term] id: MONDO:0012595 @@ -286574,7 +285318,6 @@ xref: UMLS:C1970254 {source="MEDGEN:370866", source="MONDO:equivalentTo", source intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6709 ! LTA intersection_of: predisposes_towards MONDO:0005124 ! leprosy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6709 {source="MONDO:mim2gene_medgen"} ! LTA [Term] id: MONDO:0012596 @@ -286599,7 +285342,6 @@ xref: SCTID:718603002 {source="MONDO:equivalentTo"} xref: UMLS:C1970253 {source="MONDO:equivalentTo", source="MEDGEN:410026", source="MONDO:MEDGEN"} is_a: MONDO:0018162 {source="Orphanet:284417"} ! neurometabolic disorder due to serine deficiency relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:284417", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19129 {source="MONDO:mim2gene_medgen"} ! PSAT1 [Term] id: MONDO:0012597 @@ -286616,6 +285358,7 @@ xref: OMIM:610997 {source="MONDO:equivalentTo"} xref: UMLS:C1970250 {source="MONDO:equivalentTo", source="MEDGEN:369689", source="MONDO:MEDGEN"} is_a: MONDO:0008315 {source="DC-OMIM:610997", source="MONDO:0012597/inferred", source="MONDO:Redundant"} ! prostate cancer is_a: MONDO:0700275 {source="OMIM:610997"} ! prostate cancer, hereditary +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5112 {source="OMIM:610997"} [Term] id: MONDO:0012598 @@ -286705,8 +285448,8 @@ xref: OMIM:611022 {source="MONDO:equivalentTo", source="DOID:0110482"} xref: UMLS:C1970239 {source="MEDGEN:370208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:611022", source="DOID:0110482", source="MONDO:Redundant", source="OMIM:611022"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9944 ! RDX -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9944 {source="MONDO:mim2gene_medgen"} ! RDX +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9944 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9944 {source="OMIM:611022"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -286759,8 +285502,8 @@ xref: UMLS:C5774181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000062 {source="DC-OMIM:611038", source="DOID:0060842", source="MONDO:Redundant", source="OMIM:611038"} ! isolated microphthalmia is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18662 ! RAX -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18662 {source="MONDO:mim2gene_medgen"} ! RAX +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18662 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18662 {source="OMIM:611038"} [Term] id: MONDO:0012605 @@ -286797,7 +285540,6 @@ xref: UMLS:C1970236 {source="MEDGEN:410021", source="MONDO:equivalentTo", source is_a: MONDO:0000062 {source="DC-OMIM:611040", source="DOID:0060837", source="MONDO:Redundant", source="OMIM:611040"} ! isolated microphthalmia intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18121 ! MFRP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18121 {source="MONDO:mim2gene_medgen"} ! MFRP [Term] id: MONDO:0012606 @@ -286827,8 +285569,8 @@ xref: OMIM:611064 {source="MONDO:equivalentTo"} xref: UMLS:C1970224 {source="MEDGEN:370858", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010940 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! inherited susceptibility to asthma intersection_of: MONDO:0010940 ! inherited susceptibility to asthma -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17020 ! IRAK3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17020 {source="MONDO:mim2gene_medgen"} ! IRAK3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17020 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17020 {source="OMIM:611064"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -286859,7 +285601,6 @@ xref: Orphanet:206580 {source="OMIM:611067", source="MONDO:equivalentTo"} xref: UMLS:C1970211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369682"} is_a: MONDO:0001516 {source="DC-OMIM:611067", source="MESH:C567023/inferred"} ! spinal muscular atrophy is_a: MONDO:0015363 {source="DOID:0111213", source="OMIM:611067"} ! neuronopathy, distal hereditary motor, autosomal recessive -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29105 {source="MONDO:mim2gene_medgen"} ! PLEKHG5 [Term] id: MONDO:0012609 @@ -286905,8 +285646,8 @@ xref: Orphanet:771 {source="OMIM:611081"} xref: UMLS:C1970207 {source="MEDGEN:370205", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005265 {source="DC-OMIM:611081", source="DOID:0110885", source="MESH:C567021", source="MONDO:Redundant", source="OMIM:611081"} ! inflammatory bowel disease intersection_of: MONDO:0005265 ! inflammatory bowel disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21498 ! ATG16L1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21498 {source="MONDO:mim2gene_medgen"} ! ATG16L1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21498 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21498 {source="OMIM:611081"} [Term] id: MONDO:0012611 @@ -286933,7 +285674,7 @@ xref: UMLS:C1970203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease is_a: MONDO:0015653 {source="Orphanet:500533"} ! monogenic epilepsy relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500533", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30172 {source="MONDO:mim2gene_medgen"} ! STRADA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30172 {source="OMIM:611087"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -286979,8 +285720,8 @@ xref: OMIM:611091 {source="MONDO:equivalentTo"} xref: UMLS:C1970199 {source="MONDO:equivalentTo", source="MEDGEN:370849", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DC-OMIM:611091", source="DOID:0081181", source="MONDO:Redundant", source="OMIM:611091"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25994 ! NSUN2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25994 {source="MONDO:mim2gene_medgen"} ! NSUN2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25994 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25994 {source="OMIM:611091"} [Term] id: MONDO:0012614 @@ -287006,7 +285747,6 @@ xref: UMLS:C1970198 {source="MEDGEN:370848", source="MONDO:equivalentTo", source is_a: MONDO:0019502 {source="DC-OMIM:611092", source="DOID:0081182", source="MONDO:Redundant", source="OMIM:611092"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4580 ! GRIK2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4580 {source="MONDO:mim2gene_medgen"} ! GRIK2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -287034,8 +285774,8 @@ xref: Orphanet:88616 {source="OMIM:611093"} xref: UMLS:C1970197 {source="MEDGEN:370847", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DC-OMIM:611093", source="DOID:0081183", source="MONDO:Redundant", source="OMIM:611093"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30242 ! TUSC3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30242 {source="MONDO:mim2gene_medgen"} ! TUSC3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30242 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30242 {source="OMIM:611093"} [Term] id: MONDO:0012616 @@ -287186,7 +285926,7 @@ xref: SCTID:703537008 {source="MONDO:equivalentTo"} xref: UMLS:C1970180 {source="MEDGEN:370845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0019046 {source="Orphanet:137898"} ! leukodystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25538 {source="MONDO:mim2gene_medgen"} ! DARS2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25538 {source="OMIM:611105"} [Term] id: MONDO:0012623 @@ -287233,7 +285973,7 @@ xref: SCTID:725046003 {source="MONDO:equivalentTo"} xref: UMLS:C4747517 {source="MEDGEN:1648400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017713 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of fatty acid oxidation and ketogenesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012624 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21497 {source="MONDO:mim2gene_medgen"} ! ACAD9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21497 {source="OMIM:611126"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -287259,7 +285999,6 @@ xref: UMLS:C1970163 {source="MONDO:equivalentTo", source="MEDGEN:410004", source is_a: MONDO:0019200 {source="DC-OMIM:611131", source="DOID:0110399", source="MESH:C567005", source="MONDO:Redundant", source="OMIM:611131"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7974 ! NR2E3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7974 {source="MONDO:mim2gene_medgen"} ! NR2E3 [Term] id: MONDO:0012626 @@ -287287,7 +286026,6 @@ is_a: MONDO:0100451 {source="https://clinicalgenome.org/affiliation/40072/"} ! C is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism intersection_of: MONDO:0018921 ! Meckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 ! CEP290 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 {source="MONDO:mim2gene_medgen"} ! CEP290 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -287313,7 +286051,6 @@ xref: Orphanet:64280 {source="MONDO:relatedTo", source="OMIM:611136"} xref: UMLS:C4013473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:861910"} is_a: MONDO:0020573 {source="OMIM:611136"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0005579 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! epilepsy, idiopathic generalized -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4075 {source="MONDO:mim2gene_medgen"} ! GABRA1 relationship: predisposes_towards MONDO:0005579 {source="OMIM:611136"} ! epilepsy, idiopathic generalized relationship: predisposes_towards MONDO:0009696 {source="OMIM:611136"} ! juvenile myoclonic epilepsy relationship: predisposes_towards MONDO:0010826 {source="OMIM:611136"} ! childhood absence epilepsy @@ -287438,7 +286175,7 @@ xref: OMIM:611174 {source="Orphanet:314555", source="MONDO:equivalentTo", source xref: Orphanet:314555 {source="MONDO:equivalentTo", source="OMIM:611174"} xref: UMLS:C1970027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370148"} is_a: MONDO:0021147 {source="Orphanet:314555", source="Orphanet:314555/inferred"} ! disorder of development or morphogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14361 {source="MONDO:mim2gene_medgen"} ! IRX5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14361 {source="OMIM:611174"} [Term] id: MONDO:0012635 @@ -287474,7 +286211,7 @@ is_a: MONDO:0005501 {source="DC-OMIM:611182", source="DOID:0070260", source="OMI is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0017750 {source="Orphanet:95428"} ! defect in conserved oligomeric Golgi complex relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18623 {source="MONDO:mim2gene_medgen"} ! COG8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18623 {source="OMIM:611182"} [Term] id: MONDO:0012636 @@ -287532,7 +286269,7 @@ is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenita is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017750 {source="Orphanet:263508"} ! defect in conserved oligomeric Golgi complex relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6545 {source="MONDO:mim2gene_medgen"} ! COG1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6545 {source="OMIM:611209"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI [Term] @@ -287599,7 +286336,6 @@ xref: SCTID:732932004 {source="MONDO:equivalentTo"} xref: UMLS:C2749936 {source="MEDGEN:442343", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0019064 {source="DOID:0110771", source="MESH:C567628", source="MONDO:Redundant", source="OMIM:611225", source="Orphanet:209951/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1356 {source="MONDO:mim2gene_medgen"} ! ERLIN2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -287633,7 +286369,6 @@ is_a: MONDO:0015626 {source="DOID:0110184/inferred", source="MESH:C566984", sour is_a: MONDO:0018995 {source="DOID:0110184", source="MONDO:Redundant", source="Orphanet:139515"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16873 ! FIG4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16873 {source="MONDO:mim2gene_medgen"} ! FIG4 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12443/charcot-marie-tooth-disease-type-4j" xsd:anyURI {source="GARD:0012443"} [Term] @@ -287720,8 +286455,8 @@ xref: Orphanet:474 {source="OMIM:611263"} xref: UMLS:C1970005 {source="MEDGEN:370804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018770 {source="DOID:0110086", source="MONDO:Redundant", source="OMIM:611263"} ! Jeune syndrome intersection_of: MONDO:0018770 ! Jeune syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29262 ! IFT80 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29262 {source="MONDO:mim2gene_medgen"} ! IFT80 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29262 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29262 {source="OMIM:611263"} [Term] id: MONDO:0012645 @@ -287786,7 +286521,7 @@ is_a: MONDO:0019215 {source="Orphanet:79159"} ! classic organic aciduria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012648 {source="MONDO:CLINGEN"} relationship: disease_has_major_feature HP:0001644 {source="Orphanet:79159"} ! Dilated cardiomyopathy relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:79159", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/87 {source="MONDO:mim2gene_medgen"} ! ACAD8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/87 {source="OMIM:611283"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10223/isobutyryl-coa-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0010223"} @@ -287835,7 +286570,7 @@ is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodefici is_a: MONDO:0031520 {source="OMIM:611291"} ! familial severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012650 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:169079", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25737 {source="MONDO:mim2gene_medgen"} ! NHEJ1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25737 {source="OMIM:611291"} [Term] id: MONDO:0012651 @@ -287867,8 +286602,8 @@ xref: UMLS:C1969796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0017845 {source="DOID:0050941", source="MONDO:Redundant", source="OMIM:611302"} ! spastic ataxia intersection_of: MONDO:0017845 ! spastic ataxia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6317 ! KIF1C -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6317 {source="MONDO:mim2gene_medgen"} ! KIF1C +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6317 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6317 {source="OMIM:611302"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -287898,7 +286633,6 @@ xref: UMLS:C1969785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015152 {source="DOID:0110284", source="MONDO:Redundant", source="OMIM:611307", source="Orphanet:206549"} ! autosomal recessive limb-girdle muscular dystrophy intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27337 ! ANO5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27337 {source="MONDO:mim2gene_medgen"} ! ANO5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -287939,8 +286673,8 @@ xref: Orphanet:1478 {source="OMIM:611363"} xref: UMLS:C1969657 {source="MEDGEN:369556", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006664 {source="DC-OMIM:611363", source="DOID:0110109", source="MESH:C566963", source="MONDO:Redundant", source="OMIM:611363"} ! atrial septal defect intersection_of: MONDO:0006664 ! atrial septal defect -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11598 ! TBX20 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11598 {source="MONDO:mim2gene_medgen"} ! TBX20 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11598 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11598 {source="OMIM:611363"} [Term] id: MONDO:0012655 @@ -287990,9 +286724,9 @@ xref: UMLS:C1969655 {source="MEDGEN:369555", source="MONDO:equivalentTo", source is_a: MONDO:0015161 {source="Orphanet:137783"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0017436 {source="DC-OMIM:611369", source="DOID:0060653", source="MONDO:Redundant", source="OMIM:611369", source="Orphanet:137783"} ! lethal congenital contracture syndrome intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8996 ! PIP5K1C +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8996 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8996 {source="MONDO:mim2gene_medgen"} ! PIP5K1C +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8996 {source="OMIM:611369"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12644/lethal-congenital-contracture-syndrome-3" xsd:anyURI {source="GARD:0012644"} @@ -288042,7 +286776,6 @@ is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0009-0009 intersection_of: MONDO:0019676 ! brachydactyly type B intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 ! NOG relationship: excluded_subClassOf MONDO:0019066 {source="Orphanet:140908", source="Orphanet:140908/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with brachydactyly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 {source="MONDO:mim2gene_medgen"} ! NOG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3709" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6338" xsd:string @@ -288069,7 +286802,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005150 {source="DC-OMIM:611378", source="DOID:0110021", source="MONDO:Redundant", source="OMIM:611378"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1318 ! C3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1318 {source="MONDO:mim2gene_medgen"} ! C3 [Term] id: MONDO:0012660 @@ -288129,7 +286861,6 @@ intersection_of: MONDO:0019501 ! Usher syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16361 ! WHRN relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012662 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:611383"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16361 {source="MONDO:mim2gene_medgen"} ! WHRN [Term] id: MONDO:0012663 @@ -288176,7 +286907,6 @@ is_a: MONDO:0017845 {source="DOID:0050942", source="MONDO:Redundant", source="OM is_a: MONDO:0017847 {source="MONDO:Redundant", source="Orphanet:314603"} ! autosomal recessive spastic ataxia intersection_of: MONDO:0017847 ! autosomal recessive spastic ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25133 ! MARS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25133 {source="MONDO:mim2gene_medgen"} ! MARS2 [Term] id: MONDO:0012665 @@ -288206,8 +286936,8 @@ xref: UMLS:C3808107 {source="MEDGEN:814437", source="MONDO:equivalentTo", source is_a: MONDO:0005129 {source="DOID:0110264", source="MESH:C566955", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:611391"} ! cataract is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1040 ! BFSP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1040 {source="MONDO:mim2gene_medgen"} ! BFSP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1040 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1040 {source="OMIM:611391"} [Term] id: MONDO:0012666 @@ -288242,7 +286972,6 @@ xref: MESH:C566954 {source="MONDO:equivalentTo"} xref: OMIM:611407 {source="DOID:0110446", source="MONDO:equivalentTo"} xref: UMLS:C1969639 {source="MONDO:equivalentTo", source="MEDGEN:370063", source="MONDO:MEDGEN"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:611407"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12665 {source="MONDO:mim2gene_medgen"} ! VCL [Term] id: MONDO:0012668 @@ -288286,7 +287015,7 @@ is_a: MONDO:0019289 {source="Orphanet:137605"} ! hyperpigmentation of the skin is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0020297 {source="https://orcid.org/0000-0001-6671-2252", source="https://orcid.org/0000-0001-7736-9672", source="https://orcid.org/0000-0001-8200-1733", source="https://orcid.org/0000-0001-9069-3901", source="https://orcid.org/0000-0002-0146-4881", source="https://orcid.org/0000-0002-2635-9172", source="https://orcid.org/0000-0002-2827-6880", source="https://orcid.org/0000-0002-5791-6891", source="https://orcid.org/0000-0002-6559-2858", source="https://orcid.org/0000-0003-1348-7738", source="https://orcid.org/0000-0003-1618-9269", source="https://orcid.org/0000-0003-1719-7228", source="https://orcid.org/0000-0003-2840-1511", source="https://orcid.org/0000-0003-2890-7483"} ! Noonan syndrome and Noonan-related syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012669 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20249 {source="MONDO:mim2gene_medgen"} ! SPRED1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20249 {source="OMIM:611431"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome" xsd:anyURI {source="GARD:0010714"} [Term] @@ -288316,9 +287045,9 @@ xref: OMIM:611451 {source="DOID:0110515", source="MONDO:equivalentTo"} xref: UMLS:C1969621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409872"} is_a: MONDO:0019588 {source="DC-OMIM:611451", source="DOID:0110515", source="MONDO:Redundant", source="OMIM:611451"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25033 ! LRTOMT +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25033 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012670 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25033 {source="MONDO:mim2gene_medgen"} ! LRTOMT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25033 {source="OMIM:611451"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -288366,7 +287095,6 @@ is_a: MONDO:0005281 {source="DC-OMIM:611465", source="DOID:10211", source="MONDO is_a: MONDO:0006026 {source="EFO:0004799"} ! urinary bladder disorder is_a: MONDO:0700225 {source="OMIM:611465"} ! hereditary gallbladder disorder relationship: disease_has_location UBERON:0002110 {source="EFO:0000784"} ! gallbladder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13887 {source="MONDO:mim2gene_medgen"} ! ABCG8 [Term] id: MONDO:0012673 @@ -288407,7 +287135,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005150 {source="DC-OMIM:611488", source="DOID:0110022", source="MONDO:Redundant", source="OMIM:611488"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11850 ! TLR4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11850 {source="MONDO:mim2gene_medgen"} ! TLR4 [Term] id: MONDO:0012675 @@ -288433,7 +287160,7 @@ xref: OMIM:611489 {source="DOID:0090030", source="MONDO:equivalentTo", source="O xref: Orphanet:199247 {source="DOID:0090030", source="MONDO:equivalentTo", source="OMIM:611489"} xref: UMLS:C1852529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343831"} is_a: MONDO:0005495 {source="DOID:0090030", source="Orphanet:199247"} ! adrenal gland disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1540 {source="MONDO:mim2gene_medgen"} ! SERPINA6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1540 {source="OMIM:611489"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency" xsd:anyURI {source="GARD:0013101"} [Term] @@ -288471,7 +287198,6 @@ intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2025 ! CLCN7 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012676 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2025 {source="MONDO:mim2gene_medgen"} ! CLCN7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7165" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5993/osteopetrosis-autosomal-recessive-4" xsd:anyURI {source="GARD:0005993"} @@ -288497,7 +287223,6 @@ xref: UMLS:C1862394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018054 {source="DC-OMIM:611493", source="MONDO:Redundant", source="OMIM:611493"} ! familial atrial fibrillation intersection_of: MONDO:0018054 ! familial atrial fibrillation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6242 ! KCNE2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6242 {source="MONDO:mim2gene_medgen"} ! KCNE2 [Term] id: MONDO:0012678 @@ -288550,7 +287275,6 @@ is_a: MONDO:0019026 {source="OMIM:611497"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0017198 ! osteopetrosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29017 ! PLEKHM1 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29017 {source="MONDO:mim2gene_medgen"} ! PLEKHM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4156/osteopetrosis-autosomal-recessive-6" xsd:anyURI {source="GARD:0004156"} @@ -288575,10 +287299,10 @@ xref: Orphanet:655 {source="OMIM:611498"} xref: UMLS:C1969092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369409"} is_a: MONDO:0019005 {source="DC-OMIM:611498", source="DOID:0111116", source="MONDO:Redundant", source="OMIM:611498"} ! nephronophthisis intersection_of: MONDO:0019005 ! nephronophthisis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29450 ! GLIS2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29450 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012680 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:611498"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29450 {source="MONDO:mim2gene_medgen"} ! GLIS2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29450 {source="OMIM:611498"} [Term] id: MONDO:0012681 @@ -288626,7 +287350,7 @@ xref: Orphanet:169446 {source="OMIM:611521"} xref: Orphanet:331226 {source="OMIM:611521", source="MONDO:equivalentTo"} xref: UMLS:C1969086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409751"} is_a: MONDO:0021094 {source="OMIM:611521", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12440 {source="MONDO:mim2gene_medgen"} ! TYK2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12440 {source="OMIM:611521"} [Term] id: MONDO:0012683 @@ -288660,8 +287384,8 @@ xref: UMLS:C1969084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020135 {source="DC-OMIM:611523", source="DOID:0060275", source="MONDO:Redundant", source="OMIM:611523", source="Orphanet:166073"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21406 ! RARS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21406 {source="MONDO:mim2gene_medgen"} ! RARS2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21406 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21406 {source="OMIM:611523"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10710/pontocerebellar-hypoplasia-type-6" xsd:anyURI {source="GARD:0010710"} [Term] @@ -288691,7 +287415,6 @@ xref: UMLS:C1969081 {source="MEDGEN:409749", source="MONDO:equivalentTo", source is_a: MONDO:0016342 {source="DOID:0110083", source="MESH:C566925", source="MONDO:Redundant", source="OMIM:611528", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6207 ! JUP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6207 {source="MONDO:mim2gene_medgen"} ! JUP [Term] id: MONDO:0012685 @@ -288740,7 +287463,7 @@ xref: OMIM:611543 {source="Orphanet:464760", source="MONDO:equivalentTo", source xref: Orphanet:464760 {source="MONDO:equivalentTo"} xref: UMLS:C1969063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370593"} is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7165 {source="MONDO:mim2gene_medgen"} ! MMP19 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7165 {source="OMIM:611543"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI [Term] @@ -288769,8 +287492,8 @@ xref: UMLS:C3888124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005129 {source="DOID:0110270", source="MESH:C566923", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:611544"} ! cataract is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2397 ! CRYBB1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2397 {source="MONDO:mim2gene_medgen"} ! CRYBB1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2397 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2397 {source="OMIM:611544"} [Term] id: MONDO:0012689 @@ -288793,8 +287516,8 @@ xref: UMLS:C1969060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:611548", source="MESH:C566921", source="OMIM:611548"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22448 ! NOBOX -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22448 {source="MONDO:mim2gene_medgen"} ! NOBOX +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22448 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22448 {source="OMIM:611548"} [Term] id: MONDO:0012690 @@ -288820,7 +287543,6 @@ xref: UMLS:C1969057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018997 {source="DC-OMIM:611553", source="DOID:0060583", source="MESH:C548083", source="MONDO:Redundant", source="OMIM:611553"} ! Noonan syndrome intersection_of: MONDO:0018997 ! Noonan syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9829 ! RAF1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9829 {source="MONDO:mim2gene_medgen"} ! RAF1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10700/noonan-syndrome-5" xsd:anyURI {source="GARD:0010700"} [Term] @@ -288845,7 +287567,6 @@ is_a: MONDO:0007893 {source="DOID:0080549", source="MESH:C537117", source="MONDO intersection_of: MONDO:0007893 ! Noonan syndrome with multiple lentigines intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9829 ! RAF1 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:611554"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9829 {source="MONDO:mim2gene_medgen"} ! RAF1 [Term] id: MONDO:0012692 @@ -288891,7 +287612,7 @@ xref: Orphanet:137625 {source="MONDO:equivalentTo", source="OMIM:611556"} xref: SCTID:725027004 {source="MONDO:equivalentTo"} xref: UMLS:C1969054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409741"} is_a: MONDO:0002412 {source="MONDO:Redundant", source="OMIM:611556", source="Orphanet:137625", source="PMID:33340416"} ! disorder of glycogen metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4706 {source="MONDO:mim2gene_medgen"} ! GYS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4706 {source="OMIM:611556"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -288917,7 +287638,6 @@ xref: UMLS:C1969053 {source="MEDGEN:369401", source="MONDO:equivalentTo", source is_a: MONDO:0018772 {source="DOID:0111002", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:611560"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29168 ! RPGRIP1L -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29168 {source="MONDO:mim2gene_medgen"} ! RPGRIP1L [Term] id: MONDO:0012695 @@ -288944,7 +287664,6 @@ is_a: MONDO:0018921 {source="DC-OMIM:611561", source="DOID:0070119", source="MON is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism intersection_of: MONDO:0018921 ! Meckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29168 ! RPGRIP1L -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29168 {source="MONDO:mim2gene_medgen"} ! RPGRIP1L property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -289008,7 +287727,6 @@ is_a: MONDO:0019517 {source="MONDO:Redundant", source="https://orcid.org/0000-00 intersection_of: MONDO:0019517 ! Waardenburg syndrome type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11190 ! SOX10 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:611584"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11190 {source="MONDO:mim2gene_medgen"} ! SOX10 [Term] id: MONDO:0012699 @@ -289046,7 +287764,6 @@ is_a: MONDO:0700067 {source="https://clinicalgenome.org/affiliation/50061/"} ! m intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3622 ! FKTN relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3622 {source="MONDO:mim2gene_medgen"} ! FKTN [Term] id: MONDO:0012700 @@ -289078,7 +287795,6 @@ xref: UMLS:C5436235 {source="MEDGEN:1771439", source="MONDO:equivalentTo", sourc is_a: MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0015827 {source="OMIM:611590", source="Orphanet:93610"} ! distal renal tubular acidosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11027 {source="MONDO:mim2gene_medgen"} ! SLC4A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -289097,7 +287813,7 @@ xref: Orphanet:91492 {source="MONDO:relatedTo", source="OMIM:611597"} xref: Orphanet:98992 {source="MONDO:relatedTo", source="OMIM:611597"} xref: UMLS:C3808115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:814445"} is_a: MONDO:0005129 {source="DOID:0110239", source="MESH:C566909", source="MONDO:DOID", source="OMIM:611597"} ! cataract -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1041 {source="MONDO:mim2gene_medgen"} ! BFSP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1041 {source="OMIM:611597"} [Term] id: MONDO:0012702 @@ -289139,7 +287855,7 @@ xref: Orphanet:171680 {source="MONDO:equivalentTo", source="OMIM:611603"} xref: UMLS:C4305153 {source="MEDGEN:930822", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015148 ! lissencephaly type 3 is_a: MONDO:0018838 {source="MESH:C566908", source="MONDO:Redundant", source="NCIT:C148461", source="OMIM:611603", source="Orphanet:171680"} ! lissencephaly spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20766 {source="MONDO:mim2gene_medgen"} ! TUBA1A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20766 {source="OMIM:611603"} [Term] id: MONDO:0012704 @@ -289165,7 +287881,6 @@ xref: OMIM:611615 {source="MONDO:equivalentTo", source="DOID:0110444"} xref: Orphanet:154 {source="OMIM:611615"} xref: UMLS:C1969024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370583"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:611615"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3622 {source="MONDO:mim2gene_medgen"} ! FKTN [Term] id: MONDO:0012705 @@ -289263,7 +287978,6 @@ xref: UMLS:C1968843 {source="MEDGEN:369356", source="MONDO:equivalentTo", source is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:611638", source="Orphanet:98938/btnt"} ! microphthalmia, isolated, with coloboma intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10848 ! SHH -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10848 {source="MONDO:mim2gene_medgen"} ! SHH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -289347,7 +288061,6 @@ is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0019056 ! neuromuscular disease is_a: MONDO:0019952 {source="OMIM:611705"} ! congenital myopathy is_a: MONDO:0100493 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal recessive titinopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 {source="MONDO:mim2gene_medgen"} ! TTN [Term] id: MONDO:0012715 @@ -289416,8 +288129,8 @@ xref: UMLS:C2673648 {source="MEDGEN:388692", source="MONDO:equivalentTo", source is_a: MONDO:0018100 {source="DOID:0060882", source="MONDO:Redundant", source="OMIM:611718"} ! familial primary hypomagnesemia is_a: MONDO:0018101 {source="Orphanet:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia intersection_of: MONDO:0018100 ! familial primary hypomagnesemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3229 ! EGF -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3229 {source="MONDO:mim2gene_medgen"} ! EGF +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3229 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3229 {source="OMIM:611718"} [Term] id: MONDO:0012718 @@ -289448,7 +288161,6 @@ is_a: MONDO:0000732 {source="DC-OMIM:611719", source="DOID:0111473", source="MON is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14508 {source="MONDO:mim2gene_medgen"} ! MRPS22 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14508 {source="MONDO:mim2gene_medgen"} ! MRPS22 [Term] id: MONDO:0012719 @@ -289480,7 +288192,6 @@ xref: UMLS:C2673635 {source="MEDGEN:382151", source="MONDO:equivalentTo", source is_a: MONDO:0019255 {source="MESH:C567125/inferred", source="MONDO:0018299-obsoleted", source="Orphanet:139406"} ! sphingolipidosis is_a: MONDO:0100517 {source="https://clinicalgenome.org/affiliation/50009/"} ! PSAP-related sphingolipidosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012719 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9498 {source="MONDO:mim2gene_medgen"} ! PSAP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6019" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12505/encephalopathy-due-to-prosaposin-deficiency" xsd:anyURI {source="GARD:0012505"} @@ -289504,7 +288215,6 @@ xref: UMLS:C2673266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0100517 {source="https://clinicalgenome.org/affiliation/50009/"} ! PSAP-related sphingolipidosis relationship: disease_shares_features_of MONDO:0009499 {source="MESH:C567097", source="Orphanet:487/btnt"} ! Krabbe disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9498 {source="MONDO:mim2gene_medgen"} ! PSAP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6019" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10289/krabbe-disease-atypical-due-to-saposin-a-deficiency" xsd:anyURI {source="GARD:0010289"} @@ -289546,9 +288256,9 @@ is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0016295 {source="OMIM:611726", source="Orphanet:263516", source="Orphanet:263516/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0020074 {source="DC-OMIM:611726", source="DOID:0111446", source="MESH:C567095", source="MONDO:Redundant", source="OMIM:611726", source="Orphanet:263516", source="Orphanet:263516/inferred"} ! progressive myoclonus epilepsy intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21957 ! KCTD7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21957 relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21957 {source="MONDO:mim2gene_medgen"} ! KCTD7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21957 {source="OMIM:611726"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2167/epilepsy-progressive-myoclonic-type-3" xsd:anyURI {source="GARD:0002167"} @@ -289590,7 +288300,6 @@ is_a: MONDO:0100451 {source="https://clinicalgenome.org/affiliation/40072/"} ! C intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 ! CEP290 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 {source="MONDO:mim2gene_medgen"} ! CEP290 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10487/leber-congenital-amaurosis-10" xsd:anyURI {source="GARD:0010487"} @@ -289626,8 +288335,8 @@ xref: UMLS:C2673198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015137 {source="MONDO:Redundant", source="NCIT:C119043", source="Orphanet:247868/inferred"} ! periodic fever syndrome is_a: MONDO:0018768 {source="DC-OMIM:611762", source="DOID:0090063", source="MONDO:Redundant", source="OMIM:611762"} ! familial cold autoinflammatory syndrome intersection_of: MONDO:0018768 ! familial cold autoinflammatory syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22938 ! NLRP12 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22938 {source="MONDO:mim2gene_medgen"} ! NLRP12 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22938 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22938 {source="OMIM:611762"} [Term] id: MONDO:0012725 @@ -289654,7 +288363,6 @@ xref: SCTID:446923008 {source="MONDO:equivalentTo"} xref: UMLS:C2673196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382034"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015905 {source="Orphanet:329481"} ! syndromic dyslipidemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/613 {source="MONDO:mim2gene_medgen"} ! APOE [Term] id: MONDO:0012726 @@ -289683,7 +288391,6 @@ xref: UMLS:C2673195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2202 {source="MONDO:mim2gene_medgen"} ! COL4A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -289727,7 +288434,6 @@ xref: SCTID:75053002 {source="MONDO:equivalentTo", source="DOID:13378"} xref: UMLS:C0026691 {source="MEDGEN:10118", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002052 {source="DOID:13378"} ! lymphadenitis is_a: MONDO:0018882 {source="MESH:D009080", source="MONDO:Redundant", source="NCIT:C34825", source="Orphanet:2331/inferred"} ! vasculitis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14897 {source="MONDO:mim2gene_medgen"} ! ITPKC [Term] id: MONDO:0012728 @@ -289750,8 +288456,8 @@ xref: Orphanet:130 {source="OMIM:611777"} xref: UMLS:C2673193 {source="MONDO:equivalentTo", source="MEDGEN:382031", source="MONDO:MEDGEN"} is_a: MONDO:0015263 {source="DC-OMIM:611777", source="DOID:0110219", source="MESH:C567087", source="MONDO:Redundant", source="OMIM:611777"} ! Brugada syndrome intersection_of: MONDO:0015263 ! Brugada syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28956 ! GPD1L -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28956 {source="MONDO:mim2gene_medgen"} ! GPD1L +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28956 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28956 {source="OMIM:611777"} [Term] id: MONDO:0012729 @@ -289774,8 +288480,8 @@ xref: Orphanet:247511 {source="OMIM:611783"} xref: UMLS:C2673187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:435867"} is_a: MONDO:0001115 {source="DC-OMIM:611783", source="DOID:0080339", source="OMIM:611783"} ! familial polycythemia intersection_of: MONDO:0001115 ! familial polycythemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3374 ! EPAS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3374 {source="MONDO:mim2gene_medgen"} ! EPAS1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3374 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3374 {source="OMIM:611783"} [Term] id: MONDO:0012730 @@ -289799,7 +288505,6 @@ xref: UMLS:C2673186 {source="MEDGEN:435866", source="MONDO:equivalentTo", source is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:611788", source="Orphanet:91387/btnt"} ! familial thoracic aortic aneurysm and aortic dissection intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/130 ! ACTA2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/130 {source="MONDO:mim2gene_medgen"} ! ACTA2 [Term] id: MONDO:0012731 @@ -289826,8 +288531,8 @@ xref: Orphanet:288 {source="OMIM:611804"} xref: UMLS:C2678497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394841"} is_a: MONDO:0017319 {source="DC-OMIM:611804", source="MESH:C567520", source="MONDO:Redundant"} ! hereditary elliptocytosis intersection_of: MONDO:0017319 ! hereditary elliptocytosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3377 ! EPB41 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3377 {source="MONDO:mim2gene_medgen"} ! EPB41 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3377 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3377 {source="OMIM:611804"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -289869,7 +288574,6 @@ is_a: MONDO:0003004 {source="DOID:0050662"} ! macular degeneration is_a: MONDO:0019118 {source="Orphanet:139455"} ! inherited retinal dystrophy is_a: MONDO:0700239 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1-related recessive retinopathy relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="MONDO:mim2gene_medgen"} ! BEST1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -289898,7 +288602,6 @@ xref: Orphanet:139466 {source="MONDO:equivalentTo", source="OMIM:611812"} xref: SCTID:723720008 {source="MONDO:equivalentTo"} xref: UMLS:C2678492 {source="MEDGEN:394528", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009299 {source="DC-OMIM:611812"} ! 46 XX gonadal dysgenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12783 {source="MONDO:mim2gene_medgen"} ! WNT4 [Term] id: MONDO:0012735 @@ -289928,7 +288631,6 @@ is_a: MONDO:0100485 {source="https://clinicalgenome.org/affiliation/40006/"} ! K relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:420561", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015159 {source="EFO:0009062", source="Orphanet:420561", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0019285 {source="Orphanet:420561", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic nail anomaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6250 {source="MONDO:mim2gene_medgen"} ! KCNH1 [Term] id: MONDO:0012736 @@ -289956,7 +288658,6 @@ is_a: MONDO:0019171 {source="OMIM:611818", source="Orphanet:101016-prototype"} ! intersection_of: MONDO:0019171 ! familial long QT syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 ! CAV3 relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110650", source="MESH:C567515", source="OMIM:611818", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 {source="MONDO:mim2gene_medgen"} ! CAV3 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10435/long-qt-syndrome-9" xsd:anyURI {source="GARD:0010435"} [Term] @@ -289986,7 +288687,6 @@ is_a: MONDO:0019171 {source="OMIM:611819", source="Orphanet:768/btnt"} ! familia intersection_of: MONDO:0019171 ! familial long QT syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10592 ! SCN4B relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110651", source="MESH:C567514", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10592 {source="MONDO:mim2gene_medgen"} ! SCN4B property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10436/long-qt-syndrome-10" xsd:anyURI {source="GARD:0010436"} [Term] @@ -290012,9 +288712,9 @@ xref: Orphanet:768 {source="OMIM:611820"} xref: UMLS:C2678483 {source="MONDO:equivalentTo", source="MEDGEN:437218", source="MONDO:MEDGEN"} is_a: MONDO:0019171 {source="OMIM:611820", source="Orphanet:101016-prototype"} ! familial long QT syndrome intersection_of: MONDO:0019171 ! familial long QT syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/379 ! AKAP9 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/379 relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110652", source="MESH:C567513", source="OMIM:611820", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/379 {source="MONDO:mim2gene_medgen"} ! AKAP9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/379 {source="OMIM:611820"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10437/long-qt-syndrome-11" xsd:anyURI {source="GARD:0010437"} [Term] @@ -290094,8 +288794,8 @@ xref: Orphanet:1331 {source="OMIM:611868"} xref: UMLS:C2678479 {source="MEDGEN:437216", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008315 {source="DC-OMIM:611868", source="MONDO:0012741/inferred", source="MONDO:Redundant"} ! prostate cancer intersection_of: MONDO:0700275 ! prostate cancer, hereditary -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29144 ! EHBP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29144 {source="MONDO:mim2gene_medgen"} ! EHBP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29144 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29144 {source="OMIM:611868"} [Term] id: MONDO:0012742 @@ -290119,7 +288819,6 @@ xref: UMLS:C2678478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015263 {source="DC-OMIM:611875", source="DOID:0110220", source="MESH:C567509", source="MONDO:Redundant", source="OMIM:611875"} ! Brugada syndrome intersection_of: MONDO:0015263 ! Brugada syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1390 ! CACNA1C -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1390 {source="MONDO:mim2gene_medgen"} ! CACNA1C property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10361/brugada-syndrome-3" xsd:anyURI {source="GARD:0010361"} [Term] @@ -290143,8 +288842,8 @@ xref: Orphanet:130 {source="OMIM:611876"} xref: UMLS:C2678477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395632"} is_a: MONDO:0015263 {source="DC-OMIM:611876", source="DOID:0110221", source="MESH:C567508", source="MONDO:Redundant", source="OMIM:611876"} ! Brugada syndrome intersection_of: MONDO:0015263 ! Brugada syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1402 ! CACNB2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1402 {source="MONDO:mim2gene_medgen"} ! CACNB2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1402 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1402 {source="OMIM:611876"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10362/brugada-syndrome-4" xsd:anyURI {source="GARD:0010362"} [Term] @@ -290170,7 +288869,6 @@ xref: OMIM:611878 {source="DOID:0110457", source="MONDO:equivalentTo"} xref: Orphanet:54260 {source="OMIM:611878"} xref: UMLS:C2678476 {source="MEDGEN:437215", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018901 {source="DC-OMIM:611878", source="OMIM:611878"} ! left ventricular noncompaction -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12010 {source="MONDO:mim2gene_medgen"} ! TPM1 [Term] id: MONDO:0012745 @@ -290194,7 +288892,6 @@ xref: OMIM:611879 {source="DOID:0110434", source="MONDO:equivalentTo"} xref: Orphanet:154 {source="OMIM:611879"} xref: UMLS:C2678475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395631"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:611879"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11943 {source="MONDO:mim2gene_medgen"} ! TNNC1 [Term] id: MONDO:0012746 @@ -290216,7 +288913,6 @@ xref: MEDGEN:437214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611880 {source="MONDO:equivalentTo", source="DOID:0110460"} xref: UMLS:C2678474 {source="MEDGEN:437214", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:611880"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11947 {source="MONDO:mim2gene_medgen"} ! TNNI3 [Term] id: MONDO:0012747 @@ -290261,7 +288957,7 @@ is_a: MONDO:0003664 ! hemolytic anemia is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder relationship: excluded_subClassOf MONDO:0002412 {source="DC-OMIM:611881", source="MESH:C562718", source="Orphanet:57", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of glycogen metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/414 {source="MONDO:mim2gene_medgen"} ! ALDOA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/414 {source="OMIM:611881"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -290290,9 +288986,9 @@ xref: OMIM:611884 {source="MONDO:equivalentTo", source="DOID:0110605"} xref: UMLS:C2678473 {source="MEDGEN:394834", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:611884", source="DOID:0110605", source="MESH:C567504", source="MESH:C567504/inferred", source="MONDO:Redundant", source="OMIM:611884"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2942 ! DNAH11 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2942 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012748 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2942 {source="MONDO:mim2gene_medgen"} ! DNAH11 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2942 {source="OMIM:611884"} [Term] id: MONDO:0012749 @@ -290326,7 +289022,6 @@ xref: Orphanet:53696 {source="OMIM:611890", source="MONDO:equivalentTo"} xref: SCTID:715565004 {source="MONDO:equivalentTo"} xref: UMLS:C5193016 {source="MEDGEN:1677784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015168 {source="Orphanet:53696"} ! arthrogryposis multiplex congenita -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4315 {source="MONDO:mim2gene_medgen"} ! GLE1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -290385,9 +289080,9 @@ xref: Orphanet:803 {source="OMIM:611895"} xref: UMLS:C2678468 {source="MEDGEN:395629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005144 {source="DC-OMIM:611895", source="DOID:0060200", source="MESH:C567499", source="MONDO:Redundant", source="OMIM:611895"} ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/483 ! ANG +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/483 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012753 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/483 {source="MONDO:mim2gene_medgen"} ! ANG +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/483 {source="OMIM:611895"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10498/amyotrophic-lateral-sclerosis-type-9" xsd:anyURI {source="GARD:0010498"} [Term] @@ -290518,8 +289213,8 @@ xref: Orphanet:1331 {source="OMIM:611928"} xref: UMLS:C2677821 {source="MEDGEN:383198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008315 {source="DC-OMIM:611928", source="MONDO:0012758/inferred", source="MONDO:Redundant"} ! prostate cancer intersection_of: MONDO:0700275 ! prostate cancer, hereditary -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7372 ! MSMB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7372 {source="MONDO:mim2gene_medgen"} ! MSMB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7372 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7372 {source="OMIM:611928"} [Term] id: MONDO:0012759 @@ -290620,8 +289315,8 @@ xref: Orphanet:3286 {source="OMIM:611938"} xref: UMLS:C2677794 {source="MEDGEN:393837", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017990 {source="DC-OMIM:611938", source="DOID:0060676", source="MONDO:Redundant", source="OMIM:611938"} ! catecholaminergic polymorphic ventricular tachycardia intersection_of: MONDO:0017990 ! catecholaminergic polymorphic ventricular tachycardia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1513 ! CASQ2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1513 {source="MONDO:mim2gene_medgen"} ! CASQ2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1513 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1513 {source="OMIM:611938"} [Term] id: MONDO:0012763 @@ -290640,7 +289335,6 @@ xref: OMIM:611942 {source="MONDO:equivalentTo"} xref: Orphanet:64280 {source="OMIM:611942"} xref: UMLS:C2749872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440896"} is_a: MONDO:0020573 {source="OMIM:611942"} ! inherited disease susceptibility -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1395 {source="MONDO:mim2gene_medgen"} ! CACNA1H relationship: predisposes_towards MONDO:0005579 {source="OMIM:611942"} ! epilepsy, idiopathic generalized relationship: predisposes_towards MONDO:0010826 {source="OMIM:611942"} ! childhood absence epilepsy @@ -290671,7 +289365,7 @@ xref: Orphanet:420741 {source="DOID:0090113", source="MONDO:equivalentTo", sourc xref: UMLS:C2677792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394368"} is_a: MONDO:0015244 {source="EFO:0009055", source="Orphanet:420741"} ! autosomal recessive cerebellar ataxia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012764 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26661 {source="MONDO:mim2gene_medgen"} ! RNF168 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26661 {source="OMIM:611943"} [Term] id: MONDO:0012765 @@ -290740,7 +289434,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005150 {source="DC-OMIM:611953", source="DOID:0110023", source="MONDO:Redundant", source="OMIM:611953"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2475 ! CST3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2475 {source="MONDO:mim2gene_medgen"} ! CST3 [Term] id: MONDO:0012768 @@ -290806,7 +289499,6 @@ xref: UMLS:C2677770 {source="MONDO:equivalentTo", source="MEDGEN:394362", source is_a: MONDO:0010940 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! inherited susceptibility to asthma intersection_of: MONDO:0010940 ! inherited susceptibility to asthma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1932 ! CHI3L1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1932 {source="MONDO:mim2gene_medgen"} ! CHI3L1 [Term] id: MONDO:0012772 @@ -290890,9 +289582,9 @@ xref: Orphanet:268322 {source="OMIM:612004"} xref: UMLS:C2677608 {source="MEDGEN:394329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100241 {source="DC-OMIM:612004", source="MESH:C567438", source="MONDO:Redundant", source="MONDO:indirect", source="OMIM:612004"} ! inherited thrombocytopenia intersection_of: MONDO:0100241 ! inherited thrombocytopenia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19986 ! CYCS +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19986 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012775 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19986 {source="MONDO:mim2gene_medgen"} ! CYCS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19986 {source="OMIM:612004"} [Term] id: MONDO:0012776 @@ -291046,7 +289738,7 @@ is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017740 {source="Orphanet:244310"} ! disorder of protein N-glycosylation relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012783 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30220 {source="MONDO:mim2gene_medgen"} ! RFT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30220 {source="OMIM:612015"} [Term] id: MONDO:0012784 @@ -291081,7 +289773,7 @@ is_a: MONDO:0015244 {source="OMIM:612016", source="Orphanet:139485"} ! autosomal is_a: MONDO:0018151 {source="DC-OMIM:612016", source="DOID:0070241", source="OMIM:612016", source="Orphanet:139485"} ! coenzyme Q10 deficiency intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16812 {source="MONDO:mim2gene_medgen"} ! COQ8A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16812 {source="OMIM:612016"} [Term] id: MONDO:0012785 @@ -291125,7 +289817,7 @@ is_a: MONDO:0000426 {source="DOID:0070353"} ! autosomal dominant disease is_a: MONDO:0017706 {source="Orphanet:247794"} ! disorder of carbohydrate transmembrane transport and absorption relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:247794", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic HP:0000006 {source="https://orcid.org/0000-0002-4142-7153"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23094 {source="MONDO:mim2gene_medgen"} ! SLC16A12 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23094 {source="OMIM:612018"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -291165,7 +289857,6 @@ is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids b is_a: MONDO:0019064 {source="DOID:0110790", source="MESH:C567433", source="MONDO:Redundant", source="OMIM:612020", source="Orphanet:139480/inferred", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16268 ! PNPLA6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16268 {source="MONDO:mim2gene_medgen"} ! PNPLA6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI [Term] @@ -291218,8 +289909,8 @@ is_a: MONDO:0020065 {source="https://orcid.org/0000-0002-4142-7153"} ! combined is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder is_a: MONDO:0044807 {source="DOID:0090048/inferred", source="MESH:C567430", source="MONDO:Redundant", source="OMIM:612067"} ! inherited dystonia intersection_of: MONDO:0044807 ! inherited dystonia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9438 ! PRKRA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9438 {source="MONDO:mim2gene_medgen"} ! PRKRA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9438 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9438 {source="OMIM:612067"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10539/dystonia-16" xsd:anyURI {source="GARD:0010539"} @@ -291257,7 +289948,6 @@ is_a: MONDO:0017161 {source="Orphanet:275872/btnt"} ! frontotemporal dementia wi intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11571 ! TARDBP relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012790 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11571 {source="MONDO:mim2gene_medgen"} ! TARDBP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10497/amyotrophic-lateral-sclerosis-type-10" xsd:anyURI {source="GARD:0010497"} @@ -291294,7 +289984,7 @@ xref: UMLS:C2749864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease is_a: MONDO:0016796 {source="Orphanet:1933"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form is_a: MONDO:0018158 {source="MONDO:Redundant", source="OMIM:612073", source="Orphanet:1933/inferred"} ! mitochondrial DNA depletion syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11448 {source="MONDO:mim2gene_medgen"} ! SUCLA2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11448 {source="OMIM:612073"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3681/encephalomyopathy" xsd:anyURI {source="GARD:0003681"} [Term] @@ -291335,7 +290025,6 @@ is_a: MONDO:0016796 {source="Orphanet:255235"} ! mitochondrial DNA depletion syn is_a: MONDO:0018158 {source="MONDO:Redundant", source="OMIM:612075", source="Orphanet:255235/inferred"} ! mitochondrial DNA depletion syndrome intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17296 ! RRM2B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17296 {source="MONDO:mim2gene_medgen"} ! RRM2B [Term] id: MONDO:0012793 @@ -291360,7 +290049,6 @@ is_a: MONDO:0009071 {source="MONDO:Redundant", source="Orphanet:94088/btnt"} ! h is_a: MONDO:0968951 {source="OMIM:612076"} ! hypouricemia, renal intersection_of: MONDO:0009071 ! hereditary renal hypouricemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13446 ! SLC2A9 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13446 {source="MONDO:mim2gene_medgen"} ! SLC2A9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -291389,7 +290077,7 @@ is_a: MONDO:0002254 {source="DOID:0112244", source="https://orcid.org/0000-0001- is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:157954", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21863 {source="MONDO:mim2gene_medgen"} ! RBM28 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21863 {source="OMIM:612079"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -291427,7 +290115,6 @@ xref: UMLS:C2677516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:612095", source="DOID:0110376", source="MESH:C567422", source="MONDO:Redundant", source="OMIM:612095"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 ! PROM1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 {source="MONDO:mim2gene_medgen"} ! PROM1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10379/retinitis-pigmentosa-41" xsd:anyURI {source="GARD:0010379"} [Term] @@ -291483,7 +290170,6 @@ is_a: MONDO:0005045 {source="DC-OMIM:612098", source="DOID:0110317", source="MES is_a: MONDO:0024573 {source="DOID:0110317", source="MESH:C567419", source="MONDO:OMIM", source="OMIM:612098"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/143 ! ACTC1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/143 {source="MONDO:mim2gene_medgen"} ! ACTC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -291523,7 +290209,6 @@ is_a: MONDO:0020836 {source="OMIM:612100"} ! autism, susceptiblity to intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13830 ! CNTNAP2 intersection_of: predisposes_towards MONDO:0005260 ! autism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13830 {source="MONDO:mim2gene_medgen"} ! CNTNAP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -291553,7 +290238,7 @@ xref: Orphanet:157962 {source="MONDO:equivalentTo", source="OMIM:612109", source xref: UMLS:C2677500 {source="MEDGEN:393758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016073 {source="Orphanet:157962"} ! syndromic microphthalmia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012802 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5017 {source="MONDO:mim2gene_medgen"} ! HMX1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5017 {source="OMIM:612109"} [Term] id: MONDO:0012803 @@ -291583,7 +290268,7 @@ intersection_of: MONDO:0005066 ! metabolic disease intersection_of: disease_has_basis_in_disruption_of GO:0004555 ! alpha,alpha-trehalase activity intersection_of: disease_has_feature HP:0002013 ! Vomiting intersection_of: disease_has_feature HP:0002014 ! Diarrhea -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12266 {source="MONDO:mim2gene_medgen"} ! TREH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12266 {source="OMIM:612119"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -291612,7 +290297,6 @@ is_a: MONDO:0005045 {source="DC-OMIM:612124", source="DOID:0110318", source="MON is_a: MONDO:0024573 {source="DOID:0110318", source="MONDO:OMIM", source="OMIM:612124"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2472 ! CSRP3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2472 {source="MONDO:mim2gene_medgen"} ! CSRP3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -291679,7 +290363,7 @@ xref: Orphanet:238468 {source="OMIM:612132"} xref: Orphanet:98813 {source="OMIM:612132"} xref: UMLS:C2677481 {source="MEDGEN:394295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010293 {source="DOID:0081079", source="OMIM:612132", source="Orphanet:98813/btnt"} ! ectodermal dysplasia and immune deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7797 {source="MONDO:mim2gene_medgen"} ! NFKBIA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7797 {source="OMIM:612132"} [Term] id: MONDO:0012807 @@ -291705,7 +290389,6 @@ xref: Orphanet:158684 {source="MONDO:equivalentTo", source="OMIM:612138"} xref: SCTID:716701004 {source="MONDO:equivalentTo"} xref: UMLS:C2677349 {source="MEDGEN:436922", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017610 {source="OMIM:612138", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="MONDO:mim2gene_medgen"} ! PLEC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -291735,7 +290418,6 @@ xref: UMLS:C2677338 {source="MEDGEN:393713", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder is_a: MONDO:0016333 {source="OMIM:612158", source="PMID:25610839", source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0009-0001-6494-4831"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/164 {source="MONDO:mim2gene_medgen"} ! ACTN2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -291766,7 +290448,7 @@ xref: Orphanet:569164 {source="MONDO:equivalentTo"} xref: UMLS:C1266127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226845"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005509 {source="MESH:C563181/inferred"} ! histiocytoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2345 {source="MONDO:mim2gene_medgen"} ! CREB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2345 {source="OMIM:612160"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -291834,9 +290516,9 @@ xref: SCTID:768666006 {source="MONDO:equivalentTo"} xref: UMLS:C2677326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436917"} is_a: MONDO:0100062 {source="DOID:0080436", source="MONDO:Redundant", source="OMIM:612164"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11444 ! STXBP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11444 relationship: excluded_subClassOf MONDO:0100135 {source="Orphanet:33069/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! Dravet syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11444 {source="MONDO:mim2gene_medgen"} ! STXBP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11444 {source="OMIM:612164"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4" xsd:anyURI {source="GARD:0012900"} @@ -291918,7 +290600,6 @@ xref: UMLS:C2677294 {source="MONDO:equivalentTo", source="MEDGEN:394252", source is_a: MONDO:0018054 {source="DC-OMIM:612201", source="MONDO:Redundant", source="OMIM:612201"} ! familial atrial fibrillation intersection_of: MONDO:0018054 ! familial atrial fibrillation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7939 ! NPPA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7939 {source="MONDO:mim2gene_medgen"} ! NPPA [Term] id: MONDO:0012817 @@ -291998,7 +290679,6 @@ xref: SCTID:76909002 {source="EFO:0000174", source="DOID:3369"} xref: UMLS:C0553580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107816"} is_a: MONDO:0005089 {source="DOID:3369", source="EFO:0000174", source="MESH:D012512/inferred", source="NCIT:C4817"} ! sarcoma is_a: MONDO:0021038 {source="NCIT:C4817"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3508 {source="MONDO:mim2gene_medgen"} ! EWSR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -292028,7 +290708,6 @@ xref: UMLS:C2677132 {source="MEDGEN:383033", source="MONDO:equivalentTo", source is_a: MONDO:0018911 {source="DC-OMIM:612225", source="DOID:0111107", source="MONDO:Redundant"} ! maturity-onset diabetes of the young intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8618 ! PAX4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8618 {source="MONDO:mim2gene_medgen"} ! PAX4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10663/maturity-onset-diabetes-of-the-young-type-9" xsd:anyURI {source="GARD:0010663"} @@ -292077,9 +290756,9 @@ xref: MEDGEN:436866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612229 {source="MONDO:equivalentTo"} xref: UMLS:C2677123 {source="MONDO:equivalentTo", source="MEDGEN:436866", source="MONDO:MEDGEN"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6773 ! SMAD7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6773 intersection_of: predisposes_towards MONDO:0005575 ! colorectal cancer -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6773 {source="MONDO:mim2gene_medgen"} ! SMAD7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6773 {source="OMIM:612229"} [Term] id: MONDO:0012821 @@ -292167,7 +290846,6 @@ is_a: MONDO:0017226 {source="Orphanet:280288"} ! Pelizaeus-Merzbacher-like disea is_a: MONDO:0019046 {source="DOID:0060789", source="DOID:0060789/inferred", source="MONDO:Redundant", source="OMIM:612233", source="Orphanet:280288/inferred"} ! leukodystrophy intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5261 ! HSPD1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5261 {source="MONDO:mim2gene_medgen"} ! HSPD1 [Term] id: MONDO:0012825 @@ -292198,6 +290876,7 @@ xref: Orphanet:209916 {source="MONDO:equivalentTo", source="OMIM:612237"} xref: SCTID:404079008 {source="MONDO:equivalentTo", source="DOID:6496"} xref: UMLS:C1275278 {source="MONDO:equivalentTo", source="MEDGEN:220892", source="MONDO:MEDGEN"} is_a: MONDO:0018078 {source="NCIT:C27502", source="Orphanet:209916"} ! soft tissue sarcoma +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7982 {source="OMIM:612237"} [Term] id: MONDO:0012826 @@ -292246,8 +290925,8 @@ xref: Orphanet:334 {source="OMIM:612240"} xref: UMLS:C2677106 {source="MEDGEN:393658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018054 {source="DC-OMIM:612240", source="MONDO:Redundant", source="OMIM:612240"} ! familial atrial fibrillation intersection_of: MONDO:0018054 ! familial atrial fibrillation -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6224 ! KCNA5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6224 {source="MONDO:mim2gene_medgen"} ! KCNA5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6224 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6224 {source="OMIM:612240"} [Term] id: MONDO:0012829 @@ -292321,7 +291000,6 @@ xref: UMLS:C2677101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005265 {source="DC-OMIM:612244", source="DOID:0110893", source="MESH:C567384", source="MONDO:Redundant", source="OMIM:612244"} ! inflammatory bowel disease intersection_of: MONDO:0005265 ! inflammatory bowel disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/40 ! ABCB1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/40 {source="MONDO:mim2gene_medgen"} ! ABCB1 [Term] id: MONDO:0012832 @@ -292342,7 +291020,6 @@ xref: UMLS:C2677100 {source="MEDGEN:436860", source="MONDO:equivalentTo", source is_a: MONDO:0005265 {source="DC-OMIM:612245", source="DOID:0110895", source="MESH:C567383", source="MONDO:Redundant", source="OMIM:612245"} ! inflammatory bowel disease intersection_of: MONDO:0005265 ! inflammatory bowel disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6120 ! IRF5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6120 {source="MONDO:mim2gene_medgen"} ! IRF5 [Term] id: MONDO:0012833 @@ -292381,7 +291058,6 @@ relationship: disease_has_feature HP:0000486 ! Strabismus relationship: excluded_subClassOf MONDO:0005363 {source="NCIT:C38145", source="https://orcid.org/0000-0001-5208-3432"} ! inherited focal segmental glomerulosclerosis relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:612247", source="Orphanet:93262"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -292402,7 +291078,6 @@ xref: UMLS:C2677097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6120 ! IRF5 intersection_of: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6120 {source="MONDO:mim2gene_medgen"} ! IRF5 relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus [Term] @@ -292423,7 +291098,6 @@ xref: UMLS:C2677096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11365 ! STAT4 intersection_of: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11365 {source="MONDO:mim2gene_medgen"} ! STAT4 [Term] id: MONDO:0012836 @@ -292495,7 +291169,6 @@ xref: OMIM:612260 {source="Orphanet:183713/e", source="MONDO:equivalentTo", sour xref: Orphanet:183713 {source="MONDO:equivalentTo", source="OMIM:612260"} xref: UMLS:C2677092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383023"} is_a: MONDO:0021094 {source="OMIM:612260", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7562 {source="MONDO:mim2gene_medgen"} ! MYD88 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -292518,7 +291191,6 @@ xref: UMLS:C2677091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005265 {source="DC-OMIM:612261", source="DOID:0110883", source="MESH:C567378", source="MONDO:Redundant", source="OMIM:612261"} ! inflammatory bowel disease intersection_of: MONDO:0005265 ! inflammatory bowel disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19100 ! IL23R -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19100 {source="MONDO:mim2gene_medgen"} ! IL23R property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -292576,7 +291248,6 @@ xref: UMLS:C2677087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4083 ! GABRB3 intersection_of: predisposes_towards MONDO:0010826 ! childhood absence epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4083 {source="MONDO:mim2gene_medgen"} ! GABRB3 [Term] id: MONDO:0012844 @@ -292620,7 +291291,6 @@ xref: UMLS:C2677079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005265 {source="DC-OMIM:612278", source="DOID:0110890", source="MESH:C567372", source="MONDO:Redundant", source="OMIM:612278"} ! inflammatory bowel disease intersection_of: MONDO:0005265 ! inflammatory bowel disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29597 ! IRGM -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29597 {source="MONDO:mim2gene_medgen"} ! IRGM [Term] id: MONDO:0012846 @@ -292638,7 +291308,6 @@ xref: OMIM:612279 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:612279"} xref: UMLS:C2677078 {source="MEDGEN:394198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018214 {source="DC-OMIM:612279", source="DOID:0111300", source="OMIM:612279"} ! generalized epilepsy with febrile seizures plus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29597 {source="MONDO:mim2gene_medgen"} ! IRGM [Term] id: MONDO:0012847 @@ -292664,10 +291333,10 @@ is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:612281"} ! autosomal is_a: MONDO:0017778 {source="Orphanet:313/btnt"} ! lamellar ichthyosis is_a: MONDO:0019306 {source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28018 ! NIPAL4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28018 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:612281"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28018 {source="MONDO:mim2gene_medgen"} ! NIPAL4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28018 {source="OMIM:612281"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -292695,7 +291364,6 @@ is_a: MONDO:0018921 {source="DC-OMIM:612284", source="DOID:0070120", source="MON is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism intersection_of: MONDO:0018921 ! Meckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29253 ! CC2D2A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29253 {source="MONDO:mim2gene_medgen"} ! CC2D2A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -292723,7 +291391,6 @@ is_a: MONDO:0009480 {source="Orphanet:Inferred"} ! Joubert syndrome with oculore is_a: MONDO:0018772 {source="DC-OMIM:612285", source="DOID:0111004", source="MONDO:Redundant", source="OMIM:612285"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29253 ! CC2D2A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29253 {source="MONDO:mim2gene_medgen"} ! CC2D2A [Term] id: MONDO:0012850 @@ -292748,7 +291415,6 @@ intersection_of: MONDO:0000079 ! nephrolithiasis/osteoporosis, hypophosphatemic intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11019 ! SLC34A1 relationship: disease_has_feature HP:0002905 {source="MONDO:Wikidata"} ! Hyperphosphatemia relationship: disease_has_feature MONDO:0000328 {source="MONDO:Wikidata"} ! hyperphosphatemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11019 {source="MONDO:mim2gene_medgen"} ! SLC34A1 [Term] id: MONDO:0012851 @@ -292773,7 +291439,6 @@ intersection_of: MONDO:0000079 ! nephrolithiasis/osteoporosis, hypophosphatemic intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11075 ! NHERF1 relationship: disease_has_feature HP:0002905 {source="MONDO:Wikidata"} ! Hyperphosphatemia relationship: disease_has_feature MONDO:0000328 {source="MONDO:Wikidata"} ! hyperphosphatemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11075 {source="MONDO:mim2gene_medgen"} ! NHERF1 [Term] id: MONDO:0012852 @@ -292840,6 +291505,7 @@ is_a: MONDO:0015161 {source="Orphanet:2095"} ! multiple congenital anomalies/dys is_a: MONDO:0019287 {source="Orphanet:2095"} ! ectodermal dysplasia syndrome relationship: excluded_subClassOf MONDO:0015333 {source="DC-OMIM:612289", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome relationship: excluded_subClassOf MONDO:0019303 {source="Orphanet:2963", source="https://orcid.org/0000-0001-5208-3432"} ! premature aging syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20662 {source="OMIM:612289"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4497/progeroid-syndrome-petty-type" xsd:anyURI {source="GARD:0004497"} @@ -292865,7 +291531,6 @@ xref: OMIM:612290 {source="Orphanet:140963/e", source="MONDO:equivalentTo", sour xref: Orphanet:140963 {source="MONDO:equivalentTo", source="OMIM:612290"} xref: UMLS:C2676772 {source="MEDGEN:382936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5103 {source="MONDO:mim2gene_medgen"} ! HOXA2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -292889,8 +291554,8 @@ xref: Orphanet:475 {source="OMIM:612291"} xref: UMLS:C2676771 {source="MEDGEN:436772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018772 {source="DC-OMIM:612291", source="DOID:0111003", source="MONDO:Redundant", source="OMIM:612291"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25419 ! ARL13B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25419 {source="MONDO:mim2gene_medgen"} ! ARL13B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25419 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25419 {source="OMIM:612291"} [Term] id: MONDO:0012856 @@ -292925,7 +291590,7 @@ xref: UMLS:C2676770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000426 {source="DOID:0050675", source="MONDO:Redundant"} ! autosomal dominant disease relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:166108", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:612292"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6283 {source="MONDO:mim2gene_medgen"} ! KCNK9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6283 {source="OMIM:612292"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome" xsd:anyURI {source="GARD:0010358"} @@ -292973,7 +291638,7 @@ xref: UMLS:C2676767 {source="MEDGEN:393582", source="MONDO:equivalentTo", source is_a: MONDO:0003664 ! hemolytic anemia is_a: MONDO:0003689 ! familial hemolytic anemia is_a: MONDO:0020127 {source="Orphanet:169464"} ! hereditary peripheral neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1689 {source="MONDO:mim2gene_medgen"} ! CD59 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1689 {source="OMIM:612300"} [Term] id: MONDO:0012859 @@ -293011,7 +291676,6 @@ is_a: MONDO:0019026 {source="OMIM:612301"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0017198 ! osteopetrosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11908 ! TNFRSF11A relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11908 {source="MONDO:mim2gene_medgen"} ! TNFRSF11A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10106/osteopetrosis-autosomal-recessive-7" xsd:anyURI {source="GARD:0010106"} @@ -293041,7 +291705,6 @@ xref: Orphanet:745 {source="OMIM:612304", source="GARD:0013041"} xref: UMLS:C2676759 {source="MONDO:equivalentTo", source="MEDGEN:394120", source="MONDO:MEDGEN"} is_a: MONDO:0019145 {source="DOID:0111904", source="MESH:C567353", source="OMIM:612304", source="OMIM:612304/inferred", source="Orphanet:745/btnt"} ! hereditary thrombophilia due to congenital protein C deficiency is_a: MONDO:0100240 {source="MESH:C567353/inferred", source="MONDO:Redundant", source="OMIM:612304", source="OMIM:612304/inferred"} ! inherited thrombophilia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9451 {source="MONDO:mim2gene_medgen"} ! PROC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -293065,8 +291728,8 @@ xref: UMLS:C2676742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:612310", source="MESH:C567351", source="OMIM:612310"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24669 ! FIGLA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24669 {source="MONDO:mim2gene_medgen"} ! FIGLA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24669 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24669 {source="OMIM:612310"} [Term] id: MONDO:0012862 @@ -293144,7 +291807,7 @@ is_a: MONDO:0100147 {source="Orphanet:576283", source="https://clinicalgenome.or intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr2q32-q33 ! 2q32-q33 (Human) relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21637 {source="MONDO:mim2gene_medgen"} ! SATB2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21637 {source="OMIM:612313"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI [Term] @@ -293162,7 +291825,7 @@ xref: MESH:C563016 {source="MONDO:equivalentTo"} xref: OMIM:612318 {source="MONDO:equivalentTo"} xref: UMLS:C0549150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107807"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24431 {source="MONDO:mim2gene_medgen"} ! KRT75 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24431 {source="OMIM:612318"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -293199,8 +291862,8 @@ xref: SCTID:764688002 {source="MONDO:equivalentTo"} xref: UMLS:C3496228 {source="MONDO:equivalentTo", source="MEDGEN:501249", source="MONDO:MEDGEN"} is_a: MONDO:0019064 {source="DOID:0110786", source="MESH:C567311", source="MONDO:Redundant", source="OMIM:612319", source="Orphanet:171629/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21197 ! FA2H -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21197 {source="MONDO:mim2gene_medgen"} ! FA2H +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21197 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21197 {source="OMIM:612319"} [Term] id: MONDO:0012867 @@ -293261,7 +291924,6 @@ is_a: MONDO:0100240 {source="MESH:C567077/inferred", source="MONDO:Redundant", s intersection_of: MONDO:0019144 ! hereditary thrombophilia due to congenital protein S deficiency intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: excluded_subClassOf MONDO:0016634 {source="Orphanet:26349", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete thrombotic disorder due to an acquired coagulation factors defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9456 {source="MONDO:mim2gene_medgen"} ! PROS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -293289,9 +291951,9 @@ xref: OMIM:612337 {source="MONDO:equivalentTo", source="DOID:0070052"} xref: Orphanet:36367 {source="MONDO:relatedTo", source="OMIM:612337"} is_a: MONDO:0015802 {source="DC-OMIM:612337", source="DOID:0070052", source="MONDO:Redundant", source="OMIM:612337"} ! autosomal dominant non-syndromic intellectual disability intersection_of: MONDO:0015802 ! autosomal dominant non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13030 ! ZBTB18 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13030 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13030 {source="MONDO:mim2gene_medgen"} ! ZBTB18 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13030 {source="OMIM:612337"} [Term] id: MONDO:0012870 @@ -293335,7 +291997,6 @@ is_a: MONDO:0002441 {source="MONDO:Redundant", source="OMIM:612347", source="Orp intersection_of: MONDO:0002441 ! Jervell and Lange-Nielsen syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6240 ! KCNE1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012871 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6240 {source="MONDO:mim2gene_medgen"} ! KCNE1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10364/jervell-and-lange-nielsen-syndrome-2" xsd:anyURI {source="GARD:0010364"} [Term] @@ -293358,7 +292019,6 @@ xref: UMLS:C2676721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease is_a: MONDO:0100240 {source="DC-OMIM:612348", source="MESH:C567341", source="OMIM:612348"} ! inherited thrombophilia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012872 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9051 {source="MONDO:mim2gene_medgen"} ! PLAT property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -293387,7 +292047,7 @@ xref: UMLS:C2676510 {source="MEDGEN:393515", source="MONDO:equivalentTo", source is_a: MONDO:0007526 {source="https://orcid.org/0000-0001-5493-2602"} ! Ehlers-Danlos syndrome, spondylodysplastic type is_a: MONDO:0016761 {source="Orphanet:157965", source="PMID:31633310"} ! spondyloepiphyseal dysplasia is_a: MONDO:0020066 {source="MESH:C567340", source="OMIM:612350", source="Orphanet:157965"} ! Ehlers-Danlos syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20859 {source="MONDO:mim2gene_medgen"} ! SLC39A13 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20859 {source="OMIM:612350"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -293450,7 +292110,7 @@ xref: UMLS:C0398626 {source="MEDGEN:96017", source="MONDO:equivalentTo", source= is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease is_a: MONDO:0100240 {source="DC-OMIM:612356", source="OMIM:612356"} ! inherited thrombophilia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012876 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4838 {source="MONDO:mim2gene_medgen"} ! SERPIND1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4838 {source="OMIM:612356"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -293487,7 +292147,6 @@ is_a: MONDO:0016063 {source="DC-OMIM:612359", source="MESH:C567337", source="MON intersection_of: MONDO:0016063 ! Cowden disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10681 ! SDHB relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:612359"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10681 {source="MONDO:mim2gene_medgen"} ! SDHB [Term] id: MONDO:0012879 @@ -293533,7 +292192,6 @@ is_a: MONDO:0018555 {source="DOID:0090084", source="MONDO:0012880/inferred", sou is_a: MONDO:0018800 {source="MESH:C567220", source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20626 ! CHD7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20626 {source="MONDO:mim2gene_medgen"} ! CHD7 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10773/kallmann-syndrome-5" xsd:anyURI {source="GARD:0010773"} [Term] @@ -293551,8 +292209,8 @@ xref: UMLS:C2700438 {source="MEDGEN:438008", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004985 {source="DC-OMIM:612371", source="MESH:C567529", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! bipolar disorder intersection_of: MONDO:0004985 ! bipolar disorder -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12801 ! XBP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12801 {source="MONDO:mim2gene_medgen"} ! XBP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12801 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12801 {source="OMIM:612371"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -293684,7 +292342,6 @@ is_a: MONDO:0017749 {source="Orphanet:324737"} ! disorder of multiple glycosylat relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder relationship: excluded_subClassOf MONDO:0020145 {source="MONDO:0020149-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete developmental defect of the eye relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25812 {source="MONDO:mim2gene_medgen"} ! SRD5A3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI [Term] @@ -293735,9 +292392,9 @@ xref: OMIM:612387 {source="MONDO:equivalentTo"} xref: Orphanet:797 {source="OMIM:612387"} xref: UMLS:C2676468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436694"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1142 ! BTNL2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1142 intersection_of: predisposes_towards MONDO:0019338 ! sarcoidosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1142 {source="MONDO:mim2gene_medgen"} ! BTNL2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1142 {source="OMIM:612387"} [Term] id: MONDO:0012889 @@ -293775,8 +292432,8 @@ xref: UMLS:C2676466 {source="MEDGEN:393505", source="MONDO:equivalentTo", source is_a: MONDO:0016759 {source="DOID:0060268", source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 is_a: MONDO:0020135 {source="DOID:0060268", source="MONDO:Redundant", source="OMIM:612389"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28422 ! TSEN2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28422 {source="MONDO:mim2gene_medgen"} ! TSEN2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28422 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28422 {source="OMIM:612389"} [Term] id: MONDO:0012891 @@ -293799,8 +292456,8 @@ xref: UMLS:C2676465 {source="MEDGEN:382856", source="MONDO:equivalentTo", source is_a: MONDO:0016759 {source="DOID:0060269", source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 is_a: MONDO:0020135 {source="DOID:0060269", source="MONDO:Redundant", source="OMIM:612390"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15506 ! TSEN34 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15506 {source="MONDO:mim2gene_medgen"} ! TSEN34 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15506 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15506 {source="OMIM:612390"} [Term] id: MONDO:0012892 @@ -293827,7 +292484,7 @@ xref: SCTID:763318007 {source="MONDO:equivalentTo"} xref: UMLS:C2676285 {source="MEDGEN:382811", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0023603 {source="https://orcid.org/0000-0002-1780-5230"} ! hereditary disorder of connective tissue -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9083 {source="MONDO:mim2gene_medgen"} ! PLOD3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9083 {source="OMIM:612394"} [Term] id: MONDO:0012893 @@ -293848,7 +292505,6 @@ xref: UMLS:C4759728 {source="MEDGEN:1674605", source="MONDO:equivalentTo", sourc intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 ! GDF5 intersection_of: predisposes_towards MONDO:0005178 ! osteoarthritis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -293955,7 +292611,6 @@ intersection_of: MONDO:0020587 ! factor XI deficiency intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012897 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3529 {source="MONDO:mim2gene_medgen"} ! F11 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI @@ -294012,7 +292667,6 @@ xref: OMIM:612422 {source="MONDO:equivalentTo"} xref: Orphanet:75249 {source="OMIM:612422"} xref: UMLS:C2676271 {source="MEDGEN:382807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016340 {source="MONDO:Redundant", source="OMIM:612422"} ! familial restrictive cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11949 {source="MONDO:mim2gene_medgen"} ! TNNT2 [Term] id: MONDO:0012901 @@ -294044,7 +292698,7 @@ is_a: MONDO:0002243 ! hemorrhagic disease intersection_of: MONDO:0044744 ! prekallikrein deficiency intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012901 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6371 {source="MONDO:mim2gene_medgen"} ! KLKB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6371 {source="OMIM:612423"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4477/prekallikrein-deficiency-congenital" xsd:anyURI {source="GARD:0004477"} @@ -294116,8 +292770,8 @@ xref: SCTID:702326000 {source="MONDO:equivalentTo"} xref: UMLS:C2676254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394003"} is_a: MONDO:0020074 {source="MESH:C580388", source="MONDO:Redundant", source="OMIM:612437"} ! progressive myoclonus epilepsy intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17019 ! PRICKLE1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17019 {source="MONDO:mim2gene_medgen"} ! PRICKLE1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17019 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17019 {source="OMIM:612437"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -294152,7 +292806,6 @@ xref: UMLS:C2676244 {source="MEDGEN:436642", source="MONDO:equivalentTo", source is_a: MONDO:0019046 {source="DOID:0060798", source="DOID:0060798/inferred", source="OMIM:612438", source="Orphanet:139441"} ! leukodystrophy is_a: MONDO:0800470 {source="PMID:28973395", source="PMID:35275727", source="https://orcid.org/0000-0002-0505-2091"} ! TUBB4A-related neurologic disorder relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20774 {source="PMID:28973395", source="PMID:35275727", source="https://orcid.org/0000-0002-0505-2091"} ! TUBB4A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6821" xsd:anyURI [Term] @@ -294181,9 +292834,9 @@ xref: OMIM:612444 {source="DOID:0110622", source="MONDO:equivalentTo"} xref: UMLS:C2676235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390990"} is_a: MONDO:0016575 {source="DC-OMIM:612444", source="DOID:0110622", source="MESH:C567310", source="MESH:C567310/inferred", source="MONDO:Redundant", source="OMIM:612444"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18744 ! DNAI2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18744 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012906 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18744 {source="MONDO:mim2gene_medgen"} ! DNAI2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18744 {source="OMIM:612444"} [Term] id: MONDO:0012907 @@ -294229,8 +292882,8 @@ xref: UMLS:C2676232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000015 {source="DC-OMIM:612446", source="MONDO:Redundant"} ! classic complement early component deficiency is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1339 ! C6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1339 {source="MONDO:mim2gene_medgen"} ! C6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1339 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1339 {source="OMIM:612446"} [Term] id: MONDO:0012909 @@ -294243,7 +292896,6 @@ xref: MESH:C567306 {source="MONDO:equivalentTo"} xref: OMIM:612447 {source="MONDO:equivalentTo"} xref: UMLS:C2676231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382795"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12930 {source="MONDO:mim2gene_medgen"} ! ZBTB16 [Term] id: MONDO:0012910 @@ -294291,7 +292943,6 @@ is_a: MONDO:0019992 {source="MONDO:0018699-obsoleted", source="https://github.co is_a: MONDO:0800466 {source="https://clinicalgenome.org/affiliation/40060/"} ! disorder of GNAS inactivation relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder relationship: excluded_subClassOf MONDO:0021154 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 {source="MONDO:mim2gene_medgen"} ! GNAS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI @@ -294339,7 +292990,6 @@ is_a: MONDO:0019992 {source="DOID:4183", source="MONDO:0018699-obsoleted", sourc is_a: MONDO:0800466 {source="https://clinicalgenome.org/affiliation/40060/"} ! disorder of GNAS inactivation relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder relationship: excluded_subClassOf MONDO:0021154 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 {source="MONDO:mim2gene_medgen"} ! GNAS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism" xsd:anyURI {source="GARD:0007860"} @@ -294510,8 +293160,8 @@ xref: OMIM:612518 {source="DOID:0110612", source="MONDO:equivalentTo"} xref: UMLS:C2675867 {source="MONDO:equivalentTo", source="MEDGEN:382707", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:612518", source="DOID:0110612", source="MESH:C567287", source="MONDO:Redundant", source="OMIM:612518"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20188 ! DNAAF2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20188 {source="MONDO:mim2gene_medgen"} ! DNAAF2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20188 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20188 {source="OMIM:612518"} [Term] id: MONDO:0012919 @@ -294535,7 +293185,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0005147 ! type 1 diabetes mellitus relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:612520", source="DOID:0110757", source="MESH:C567286", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11621 {source="MONDO:mim2gene_medgen"} ! HNF1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI [Term] @@ -294579,7 +293228,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0005147 {source="OMIM:612522"} ! type 1 diabetes mellitus relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:612522", source="DOID:0110759", source="MESH:C567284", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1606 {source="MONDO:mim2gene_medgen"} ! CCR5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI [Term] @@ -294626,7 +293274,6 @@ is_a: MONDO:0018883 {source="Orphanet:528/btnt"} ! Berardinelli-Seip congenital intersection_of: MONDO:0006536 ! congenital generalized lipodystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1527 ! CAV1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1527 {source="MONDO:mim2gene_medgen"} ! CAV1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13389/congenital-generalized-lipodystrophy-type-3" xsd:anyURI {source="GARD:0013389"} @@ -294654,8 +293301,8 @@ xref: OMIM:612527 {source="MONDO:equivalentTo"} xref: UMLS:C2675860 {source="MEDGEN:393906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015253 {source="DC-OMIM:612527", source="DOID:0111890", source="MESH:C567281", source="MONDO:Redundant", source="OMIM:612527"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10397 ! RPS17 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10397 {source="MONDO:mim2gene_medgen"} ! RPS17 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10397 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10397 {source="OMIM:612527"} [Term] id: MONDO:0012925 @@ -294682,8 +293329,8 @@ xref: Orphanet:124 {source="OMIM:612528"} xref: UMLS:C2675859 {source="MEDGEN:382705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015253 {source="DC-OMIM:612528", source="DOID:0111883", source="MESH:C567280", source="MONDO:Redundant", source="OMIM:612528"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10345 ! RPL35A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10345 {source="MONDO:mim2gene_medgen"} ! RPL35A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10345 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10345 {source="OMIM:612528"} [Term] id: MONDO:0012926 @@ -294712,8 +293359,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110060", source="MESH:C567279", source="MONDO:Redundant", source="OMIM:612529"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7167 ! MMP20 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7167 {source="MONDO:mim2gene_medgen"} ! MMP20 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7167 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7167 {source="OMIM:612529"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -294784,7 +293431,6 @@ xref: SCTID:763070001 {source="MONDO:equivalentTo"} xref: UMLS:C2675528 {source="MEDGEN:393407", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110794", source="MESH:C567262", source="MONDO:Redundant", source="OMIM:612539", source="Orphanet:171863/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/95 {source="MONDO:mim2gene_medgen"} ! SLC33A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI [Term] @@ -294810,7 +293456,7 @@ xref: Orphanet:210163 {source="OMIM:612540", source="MONDO:equivalentTo"} xref: UMLS:C2675527 {source="MEDGEN:393406", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019952 {source="DC-OMIM:612540", source="DOID:0080101", source="OMIM:612540", source="Orphanet:210163"} ! congenital myopathy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2171 {source="MONDO:mim2gene_medgen"} ! CNTN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2171 {source="OMIM:612540"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -294845,7 +293491,6 @@ intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24861 ! G6PC3 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24861 {source="MONDO:mim2gene_medgen"} ! G6PC3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -294866,10 +293511,10 @@ xref: MEDGEN:390820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612551 {source="MONDO:equivalentTo"} xref: UMLS:C2675525 {source="MEDGEN:390820", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/618 ! APOL1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/618 intersection_of: predisposes_towards MONDO:0005363 ! inherited focal segmental glomerulosclerosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012931 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/618 {source="MONDO:mim2gene_medgen"} ! APOL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/618 {source="OMIM:612551"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -294913,7 +293558,6 @@ intersection_of: predisposes_towards MONDO:0003582 ! hereditary breast ovarian c relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012933 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0003582 {source="OMIM:612555", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary breast ovarian cancer syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:612555"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1101 {source="MONDO:mim2gene_medgen"} ! BRCA2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -294994,9 +293638,9 @@ xref: Orphanet:124 {source="OMIM:612561"} xref: UMLS:C2931850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419918"} is_a: MONDO:0015253 {source="DC-OMIM:612561", source="DOID:0111879", source="MONDO:Redundant", source="OMIM:612561"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10360 ! RPL5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10360 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012937 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10360 {source="MONDO:mim2gene_medgen"} ! RPL5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10360 {source="OMIM:612561"} [Term] id: MONDO:0012938 @@ -295022,8 +293666,8 @@ xref: OMIM:612562 {source="MONDO:equivalentTo"} xref: UMLS:C2675512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436451"} is_a: MONDO:0015253 {source="DC-OMIM:612562", source="DOID:0111878", source="MESH:C567254", source="MONDO:Redundant", source="OMIM:612562"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10301 ! RPL11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10301 {source="MONDO:mim2gene_medgen"} ! RPL11 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10301 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10301 {source="OMIM:612562"} [Term] id: MONDO:0012939 @@ -295049,8 +293693,8 @@ xref: OMIM:612563 {source="MONDO:equivalentTo"} xref: UMLS:C2675511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390817"} is_a: MONDO:0015253 {source="DC-OMIM:612563", source="DOID:0111881", source="MESH:C567253", source="MONDO:Redundant", source="OMIM:612563"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10440 ! RPS7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10440 {source="MONDO:mim2gene_medgen"} ! RPS7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10440 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10440 {source="OMIM:612563"} [Term] id: MONDO:0012940 @@ -295096,7 +293740,6 @@ is_a: MONDO:0005265 {source="DOID:0110909", source="MESH:C567251", source="MONDO is_a: MONDO:0016542 {source="Orphanet:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome intersection_of: MONDO:0005265 ! inflammatory bowel disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5965 ! IL10RB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5965 {source="MONDO:mim2gene_medgen"} ! IL10RB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -295139,9 +293782,9 @@ xref: UMLS:C2675496 {source="MEDGEN:382614", source="MONDO:equivalentTo", source is_a: MONDO:0019200 {source="DC-OMIM:612572", source="DOID:0110409", source="MESH:C567249", source="MONDO:Redundant", source="OMIM:612572"} ! retinitis pigmentosa is_a: MONDO:0800393 {source="https://clinicalgenome.org/affiliation/40072/"} ! IDH3B-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5385 ! IDH3B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5385 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5385 {source="MONDO:mim2gene_medgen"} ! IDH3B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5385 {source="OMIM:612572"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -295187,7 +293830,6 @@ is_a: MONDO:0005144 {source="DOID:0060202", source="MESH:C567244", source="MONDO intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16873 ! FIG4 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012945 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16873 {source="MONDO:mim2gene_medgen"} ! FIG4 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10496/amyotrophic-lateral-sclerosis-type-11" xsd:anyURI {source="GARD:0010496"} [Term] @@ -295215,9 +293857,9 @@ xref: Orphanet:178469 {source="OMIM:612580"} xref: UMLS:C2675488 {source="MEDGEN:436447", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:612580"} ! intellectual disability, autosomal dominant intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1754 ! CDH15 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1754 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1754 {source="MONDO:mim2gene_medgen"} ! CDH15 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1754 {source="OMIM:612580"} [Term] id: MONDO:0012947 @@ -295246,7 +293888,6 @@ is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:612581"} ! intellect intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23204 ! KIRREL3 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23204 {source="MONDO:mim2gene_medgen"} ! KIRREL3 [Term] id: MONDO:0012948 @@ -295375,7 +294016,6 @@ xref: UMLS:C2675481 {source="MEDGEN:436445", source="MONDO:equivalentTo", source intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9175 ! POLD1 intersection_of: predisposes_towards MONDO:0005575 ! colorectal cancer -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9175 {source="MONDO:mim2gene_medgen"} ! POLD1 [Term] id: MONDO:0012954 @@ -295497,9 +294137,9 @@ xref: OMIM:612621 {source="DOID:0070035", source="MONDO:equivalentTo"} xref: UMLS:C2675473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382611"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:612621"} ! intellectual disability, autosomal dominant intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11497 ! SYNGAP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11497 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11497 {source="MONDO:mim2gene_medgen"} ! SYNGAP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11497 {source="OMIM:612621"} [Term] id: MONDO:0012961 @@ -295539,7 +294179,6 @@ xref: UMLS:C2675471 {source="MEDGEN:436442", source="MONDO:equivalentTo", source is_a: MONDO:0000065 {source="DC-OMIM:612623", source="MONDO:Redundant", source="OMIM:612623"} ! microvascular complications of diabetes, susceptibility intersection_of: MONDO:0000065 ! microvascular complications of diabetes, susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3415 ! EPO -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3415 {source="MONDO:mim2gene_medgen"} ! EPO property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -295561,7 +294200,6 @@ xref: UMLS:C2675470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000065 {source="DC-OMIM:612624", source="MONDO:Redundant", source="OMIM:612624"} ! microvascular complications of diabetes, susceptibility intersection_of: MONDO:0000065 ! microvascular complications of diabetes, susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2707 ! ACE -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2707 {source="MONDO:mim2gene_medgen"} ! ACE property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -295637,7 +294275,6 @@ xref: UMLS:C2675112 {source="MEDGEN:382527", source="MONDO:equivalentTo", source is_a: MONDO:0000065 {source="DC-OMIM:612628", source="MONDO:Redundant", source="OMIM:612628"} ! microvascular complications of diabetes, susceptibility intersection_of: MONDO:0000065 ! microvascular complications of diabetes, susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6000 ! IL1RN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6000 {source="MONDO:mim2gene_medgen"} ! IL1RN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -295661,7 +294298,7 @@ xref: Orphanet:86817 {source="OMIM:612631", source="MONDO:equivalentTo"} xref: SCTID:766982000 {source="MONDO:equivalentTo"} xref: UMLS:C2675459 {source="MEDGEN:390802", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003664 {source="Orphanet:86817"} ! hemolytic anemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/361 {source="MONDO:mim2gene_medgen"} ! AK1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/361 {source="OMIM:612631"} [Term] id: MONDO:0012968 @@ -295705,7 +294342,6 @@ xref: UMLS:C2674665 {source="MEDGEN:436225", source="MONDO:equivalentTo", source is_a: MONDO:0000065 {source="DC-OMIM:612633", source="MONDO:Redundant", source="OMIM:612633"} ! microvascular complications of diabetes, susceptibility intersection_of: MONDO:0000065 ! microvascular complications of diabetes, susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9204 ! PON1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9204 {source="MONDO:mim2gene_medgen"} ! PON1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -295725,8 +294361,8 @@ xref: OMIM:612634 {source="MONDO:equivalentTo"} xref: UMLS:C2675128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382533"} is_a: MONDO:0000065 {source="DC-OMIM:612634", source="MONDO:Redundant", source="OMIM:612634"} ! microvascular complications of diabetes, susceptibility intersection_of: MONDO:0000065 ! microvascular complications of diabetes, susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11180 ! SOD2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11180 {source="MONDO:mim2gene_medgen"} ! SOD2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11180 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11180 {source="OMIM:612634"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -295749,7 +294385,6 @@ xref: UMLS:C2673520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000065 {source="DC-OMIM:612635", source="MONDO:Redundant", source="OMIM:612635"} ! microvascular complications of diabetes, susceptibility intersection_of: MONDO:0000065 ! microvascular complications of diabetes, susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4886 ! HFE -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4886 {source="MONDO:mim2gene_medgen"} ! HFE property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -295831,7 +294466,6 @@ xref: UMLS:C2675237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019587 {source="DC-OMIM:612643", source="DOID:0110565", source="MONDO:Redundant", source="OMIM:612643"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4288 ! GJB6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4288 {source="MONDO:mim2gene_medgen"} ! GJB6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -295861,7 +294495,6 @@ xref: UMLS:C2675236 {source="MEDGEN:390742", source="MONDO:equivalentTo", source is_a: MONDO:0019587 {source="DC-OMIM:612644", source="DOID:0110559", source="MONDO:Redundant", source="OMIM:612644"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4285 ! GJB3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4285 {source="MONDO:mim2gene_medgen"} ! GJB3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -295893,7 +294526,6 @@ xref: UMLS:C2675235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019588 {source="DC-OMIM:612645", source="DOID:0110476", source="MONDO:Redundant", source="OMIM:612645"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4288 ! GJB6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4288 {source="MONDO:mim2gene_medgen"} ! GJB6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -295923,9 +294555,9 @@ xref: OMIM:612649 {source="DOID:0110602", source="MONDO:equivalentTo"} xref: UMLS:C2675229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390741"} is_a: MONDO:0016575 {source="DC-OMIM:612649", source="DOID:0110602", source="MESH:C567212", source="MONDO:Redundant", source="OMIM:612649"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21558 ! RSPH4A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21558 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012978 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21558 {source="MONDO:mim2gene_medgen"} ! RSPH4A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21558 {source="OMIM:612649"} [Term] id: MONDO:0012979 @@ -295952,9 +294584,9 @@ xref: OMIM:612650 {source="DOID:0110601", source="MONDO:equivalentTo"} xref: UMLS:C2675228 {source="MEDGEN:436379", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:612650", source="DOID:0110601", source="MESH:C567211", source="MONDO:Redundant", source="OMIM:612650"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21057 ! RSPH9 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21057 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012979 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21057 {source="MONDO:mim2gene_medgen"} ! RSPH9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21057 {source="OMIM:612650"} [Term] id: MONDO:0012980 @@ -295983,7 +294615,6 @@ xref: UMLS:C2675227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:199332"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21219 {source="MONDO:mim2gene_medgen"} ! CILK1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -296011,7 +294642,6 @@ xref: UMLS:C2675212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019350 {source="DOID:0110919", source="MESH:C567208", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis intersection_of: MONDO:0019350 ! hereditary spherocytosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11027 ! SLC4A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11027 {source="MONDO:mim2gene_medgen"} ! SLC4A1 [Term] id: MONDO:0012982 @@ -296042,9 +294672,9 @@ xref: UMLS:C2675211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016227 {source="DOID:0050994", source="MONDO:Redundant", source="OMIM:612656", source="Orphanet:209967"} ! hereditary episodic ataxia is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport intersection_of: MONDO:0016227 ! hereditary episodic ataxia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10941 ! SLC1A3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10941 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012982 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10941 {source="MONDO:mim2gene_medgen"} ! SLC1A3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10941 {source="OMIM:612656"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -296068,7 +294698,6 @@ xref: UMLS:C2675210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015993 {source="DC-OMIM:612657", source="DOID:0111019", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:612657"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 ! PROM1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 {source="MONDO:mim2gene_medgen"} ! PROM1 [Term] id: MONDO:0012984 @@ -296101,7 +294730,7 @@ is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids b is_a: MONDO:0020127 {source="MONDO:0016132-obsoleted"} ! hereditary peripheral neuropathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012984 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:612674", source="Orphanet:171848"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15868 {source="MONDO:mim2gene_medgen"} ! ABHD12 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15868 {source="OMIM:612674"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI [Term] @@ -296128,8 +294757,8 @@ xref: Orphanet:822 {source="OMIM:612690"} xref: UMLS:C2675192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436371"} is_a: MONDO:0019350 {source="DOID:0110920", source="MESH:C567202", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis intersection_of: MONDO:0019350 ! hereditary spherocytosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3381 ! EPB42 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3381 {source="MONDO:mim2gene_medgen"} ! EPB42 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3381 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3381 {source="OMIM:612690"} [Term] id: MONDO:0012986 @@ -296152,7 +294781,6 @@ xref: Orphanet:208441 {source="MONDO:equivalentTo", source="OMIM:612691"} xref: Orphanet:268940 {source="OMIM:612691"} xref: UMLS:C4013648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862085"} is_a: MONDO:0017091 {source="Orphanet:208441"} ! bilateral polymicrogyria -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16873 {source="MONDO:mim2gene_medgen"} ! FIG4 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10785/bilateral-parasagittal-parieto-occipital-polymicrogyria" xsd:anyURI {source="GARD:0010785"} [Term] @@ -296178,9 +294806,9 @@ xref: UMLS:C3150207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:612692"} ! agammaglobulinemia intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1699 ! CD79B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1699 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012987 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1699 {source="MONDO:mim2gene_medgen"} ! CD79B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1699 {source="OMIM:612692"} [Term] id: MONDO:0012988 @@ -296205,8 +294833,8 @@ xref: UMLS:C3552574 {source="MEDGEN:765488", source="MONDO:equivalentTo", source is_a: MONDO:0018555 {source="DOID:0090086", source="MONDO:0012988/inferred", source="MONDO:Redundant", source="OMIM:612702"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="MESH:C567199", source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3686 ! FGF8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3686 {source="MONDO:mim2gene_medgen"} ! FGF8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3686 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3686 {source="OMIM:612702"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10774/kallmann-syndrome-6" xsd:anyURI {source="GARD:0010774"} [Term] @@ -296229,8 +294857,8 @@ xref: Orphanet:2512 {source="OMIM:612703"} xref: UMLS:C2675187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436370"} is_a: MONDO:0016660 {source="DC-OMIM:612703", source="DOID:0070278", source="MONDO:Redundant", source="OMIM:612703"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10879 ! STIL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10879 {source="MONDO:mim2gene_medgen"} ! STIL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10879 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10879 {source="OMIM:612703"} [Term] id: MONDO:0012990 @@ -296255,10 +294883,10 @@ xref: UMLS:C2675186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018998 {source="DC-OMIM:612712", source="DOID:0110330", source="MESH:C567197", source="MONDO:Redundant", source="OMIM:612712"} ! Leber congenital amaurosis is_a: MONDO:0800099 {source="https://clinicalgenome.org/affiliation/40072/"} ! RDH12-related recessive retinopathy intersection_of: MONDO:0018998 ! Leber congenital amaurosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19977 ! RDH12 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19977 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19977 {source="MONDO:mim2gene_medgen"} ! RDH12 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19977 {source="OMIM:612712"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10882/leber-congenital-amaurosis-13" xsd:anyURI {source="GARD:0010882"} @@ -296280,7 +294908,6 @@ xref: Orphanet:168972 {source="MONDO:equivalentObsolete", source="OMIM:612713"} xref: UMLS:C2675185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382543"} is_a: MONDO:0006025 {source="DOID:0050807"} ! autosomal recessive disease relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:612713"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25812 {source="MONDO:mim2gene_medgen"} ! SRD5A3 [Term] id: MONDO:0012992 @@ -296307,7 +294934,7 @@ is_a: MONDO:0009068 ! cytochrome-c oxidase deficiency disease is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia is_a: MONDO:0019403 {source="MESH:C567195"} ! congenital dyserythropoietic anemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16232 {source="MONDO:mim2gene_medgen"} ! COX4I2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16232 {source="OMIM:612714"} [Term] id: MONDO:0012993 @@ -296362,7 +294989,7 @@ intersection_of: MONDO:0016812 ! dopa-responsive dystonia intersection_of: disease_has_basis_in_disruption_of GO:0004757 ! sepiapterin reductase (NADP+) activity relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012994 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0046146 ! tetrahydrobiopterin metabolic process -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11257 {source="MONDO:mim2gene_medgen"} ! SPR +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11257 {source="OMIM:612716"} [Term] id: MONDO:0012995 @@ -296413,7 +295040,6 @@ intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_basis_in_disruption_of GO:0015068 ! glycine amidinotransferase activity relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012996 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0006601 ! creatine biosynthetic process -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4175 {source="MONDO:mim2gene_medgen"} ! GATM [Term] id: MONDO:0012997 @@ -296484,7 +295110,7 @@ intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_basis_in_disruption_of GO:0030731 ! guanidinoacetate N-methyltransferase activity relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0012999 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0006601 ! creatine biosynthetic process -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4136 {source="MONDO:mim2gene_medgen"} ! GAMT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4136 {source="OMIM:612736"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency" xsd:anyURI {source="GARD:0002578"} [Term] @@ -296526,7 +295152,6 @@ xref: Orphanet:100924 {source="OMIM:612740", source="MONDO:equivalentTo"} xref: UMLS:C0268328 {source="MEDGEN:78659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002520 {source="MESH:C562618", source="Orphanet:100924"} ! hepatic porphyria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013000 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/395 {source="MONDO:mim2gene_medgen"} ! ALAD property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4445/aminolevulinate-dehydratase-deficiency-porphyria" xsd:anyURI {source="GARD:0004445"} [Term] @@ -296560,9 +295185,9 @@ xref: UMLS:C1423873 {source="MEDGEN:244692", source="MONDO:equivalentTo", source is_a: MONDO:0015993 {source="DC-OMIM:612775", source="DOID:0111020", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:612775"} ! cone-rod dystrophy is_a: MONDO:0800398 {source="https://clinicalgenome.org/affiliation/40072/"} ! ADAM9-related retinopathy intersection_of: MONDO:0015993 ! cone-rod dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/216 ! ADAM9 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/216 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/216 {source="MONDO:mim2gene_medgen"} ! ADAM9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/216 {source="OMIM:612775"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -296637,7 +295262,6 @@ is_a: MONDO:0015962 {source="Orphanet:199343"} ! inherited renal tubular disease is_a: MONDO:0100309 {source="Orphanet:199343"} ! hereditary ataxia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013005 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6256 {source="MONDO:mim2gene_medgen"} ! KCNJ10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -296698,7 +295322,6 @@ xref: Orphanet:169090 {source="OMIM:612782"} xref: Orphanet:317428 {source="OMIM:612782", source="MONDO:equivalentTo"} xref: UMLS:C2748568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440578"} is_a: MONDO:0015695 {source="Orphanet:317428"} ! combined immunodeficiency due to CRAC channel dysfunction -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25896 {source="MONDO:mim2gene_medgen"} ! ORAI1 [Term] id: MONDO:0013008 @@ -296726,7 +295349,6 @@ xref: Orphanet:169090 {source="OMIM:612783"} xref: Orphanet:317430 {source="OMIM:612783", source="MONDO:equivalentTo"} xref: UMLS:C2748557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440575"} is_a: MONDO:0015695 {source="Orphanet:317430"} ! combined immunodeficiency due to CRAC channel dysfunction -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11386 {source="MONDO:mim2gene_medgen"} ! STIM1 [Term] id: MONDO:0013009 @@ -296788,7 +295410,6 @@ xref: UMLS:C2748552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0006664 {source="DC-OMIM:612794", source="DOID:0110110", source="MESH:C567561", source="MONDO:Redundant", source="OMIM:612794"} ! atrial septal defect intersection_of: MONDO:0006664 ! atrial septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/143 ! ACTC1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/143 {source="MONDO:mim2gene_medgen"} ! ACTC1 [Term] id: MONDO:0013012 @@ -296824,7 +295445,6 @@ xref: OMIM:612798 {source="MONDO:equivalentTo"} xref: Orphanet:137888 {source="OMIM:612798"} xref: UMLS:C2748545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411238"} is_a: MONDO:0000107 {source="Orphanet:137888/btnt"} ! auriculocondylar syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3176 {source="MONDO:mim2gene_medgen"} ! EDN1 [Term] id: MONDO:0013014 @@ -296850,7 +295470,6 @@ xref: SCTID:719165004 {source="MONDO:equivalentTo"} xref: UMLS:C2748544 {source="MEDGEN:411237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:612813", source="Orphanet:171866", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/319 {source="MONDO:mim2gene_medgen"} ! ACAN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10513/spondyloepimetaphyseal-dysplasia-aggrecan-type" xsd:anyURI {source="GARD:0010513"} @@ -296878,7 +295497,6 @@ xref: UMLS:C2748541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015263 {source="DC-OMIM:612838", source="DOID:0110222", source="MONDO:Redundant", source="OMIM:612838"} ! Brugada syndrome intersection_of: MONDO:0015263 ! Brugada syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10586 ! SCN1B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10586 {source="MONDO:mim2gene_medgen"} ! SCN1B [Term] id: MONDO:0013016 @@ -296919,10 +295537,10 @@ xref: UMLS:C2748536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017198 {source="Orphanet:99844", source="PMID:31633310"} ! osteopetrosis is_a: MONDO:0017570 {source="DOID:0110912", source="MONDO:Redundant", source="Orphanet:99844"} ! leukocyte adhesion deficiency intersection_of: MONDO:0017570 ! leukocyte adhesion deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23151 ! FERMT3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23151 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013016 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:612840", source="Orphanet:99844"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23151 {source="MONDO:mim2gene_medgen"} ! FERMT3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23151 {source="OMIM:612840"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -296948,6 +295566,7 @@ xref: UMLS:C2748535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003037 {source="DOID:0110702", source="MESH:C567554", source="MONDO:Redundant", source="OMIM:612841"} ! hypotrichosis is_a: MONDO:0018631 {source="https://orcid.org/0000-0001-5493-2602"} ! Marie Unna hereditary hypotrichosis relationship: excluded_subClassOf MONDO:0018631 {source="Orphanet:444/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! Marie Unna hereditary hypotrichosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21297 {source="OMIM:612841"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6357" xsd:anyURI [Term] @@ -297019,7 +295638,6 @@ xref: UMLS:C2748507 {source="MEDGEN:411230", source="MONDO:equivalentTo", source is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder is_a: MONDO:0009813 {source="OMIM:612852"} ! chronic recurrent multifocal osteomyelitis is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119056", source="Orphanet:210115/inferred", source="PMID:23827249"} ! autoinflammatory syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6000 {source="MONDO:mim2gene_medgen"} ! IL1RN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI [Term] @@ -297228,7 +295846,6 @@ xref: MESH:C567877 {source="MONDO:equivalentTo"} xref: OMIM:612877 {source="DOID:0110458", source="MONDO:equivalentTo"} xref: UMLS:C2752072 {source="MEDGEN:414552", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:612877"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3049 {source="MONDO:mim2gene_medgen"} ! DSG2 [Term] id: MONDO:0013031 @@ -297271,7 +295888,6 @@ is_a: MONDO:0020573 {source="OMIM:612899"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1514 ! CASR intersection_of: predisposes_towards MONDO:0005579 ! epilepsy, idiopathic generalized -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1514 {source="MONDO:mim2gene_medgen"} ! CASR relationship: predisposes_towards MONDO:0005579 {source="OMIM:612899"} ! epilepsy, idiopathic generalized property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -297297,8 +295913,8 @@ xref: UMLS:C2752061 {source="MEDGEN:442880", source="MONDO:equivalentTo", source is_a: MONDO:0016215 {source="DC-OMIM:612900", source="DOID:0081360", source="MONDO:Redundant", source="OMIM:612900"} ! spastic quadriplegic cerebral palsy is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder intersection_of: MONDO:0016215 ! spastic quadriplegic cerebral palsy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19309 ! KANK1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19309 {source="MONDO:mim2gene_medgen"} ! KANK1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19309 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19309 {source="OMIM:612900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4768" xsd:anyURI [Term] @@ -297326,7 +295942,6 @@ xref: UMLS:C1852127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018865 {source="DOID:0081109", source="MONDO:Redundant", source="Orphanet:50942/btnt"} ! striate palmoplantar keratoderma intersection_of: MONDO:0018865 ! striate palmoplantar keratoderma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 ! DSP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 {source="MONDO:mim2gene_medgen"} ! DSP [Term] id: MONDO:0013035 @@ -297437,7 +296052,6 @@ is_a: MONDO:0002254 {source="DOID:0080351"} ! syndromic disease is_a: MONDO:0005073 {source="Orphanet:140944"} ! melanocytic nevus is_a: MONDO:0019296 {source="Orphanet:140944"} ! subcutaneous tissue disorder is_a: MONDO:1040002 {source="PMID:23592320", source="PMID:23946963", source="PMID:25557259", source="https://clinicalgenome.org/affiliation/50020/"} ! PIK3CA-related overgrowth spectrum -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8975 {source="MONDO:mim2gene_medgen"} ! PIK3CA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5210" xsd:anyURI @@ -297465,9 +296079,9 @@ xref: UMLS:C2752041 {source="MEDGEN:414168", source="MONDO:equivalentTo", source is_a: MONDO:0007477 {source="DC-OMIM:612921", source="MONDO:Redundant", source="OMIM:612921"} ! 3-M syndrome is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder intersection_of: MONDO:0007477 ! 3-M syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29092 ! OBSL1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29092 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:612921"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29092 {source="MONDO:mim2gene_medgen"} ! OBSL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29092 {source="OMIM:612921"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -297502,7 +296116,7 @@ xref: UMLS:C2752040 {source="MEDGEN:414167", source="MONDO:equivalentTo", source is_a: MONDO:0001549 {source="MONDO:0013040/inferred", source="MONDO:Redundant", source="OMIM:612922"} ! hemolytic-uremic syndrome is_a: MONDO:0016244 {source="Orphanet:93576"} ! atypical hemolytic-uremic syndrome is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6953 {source="MONDO:mim2gene_medgen"} ! CD46 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6953 {source="OMIM:612922"} [Term] id: MONDO:0013041 @@ -297534,7 +296148,6 @@ xref: UMLS:C2752039 {source="MEDGEN:414542", source="MONDO:equivalentTo", source is_a: MONDO:0001549 {source="MONDO:0013041/inferred", source="MONDO:Redundant", source="OMIM:612923"} ! hemolytic-uremic syndrome is_a: MONDO:0016244 {source="Orphanet:93580"} ! atypical hemolytic-uremic syndrome is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5394 {source="MONDO:mim2gene_medgen"} ! CFI [Term] id: MONDO:0013042 @@ -297567,7 +296180,6 @@ xref: UMLS:C2752038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0001549 {source="MONDO:0013042/inferred", source="MONDO:Redundant", source="OMIM:612924"} ! hemolytic-uremic syndrome is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013042 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1037 {source="MONDO:mim2gene_medgen"} ! CFB [Term] id: MONDO:0013043 @@ -297600,7 +296212,6 @@ is_a: MONDO:0001549 {source="MONDO:0013043/inferred", source="MONDO:Redundant", is_a: MONDO:0016244 {source="Orphanet:93575"} ! atypical hemolytic-uremic syndrome is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013043 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1318 {source="MONDO:mim2gene_medgen"} ! C3 [Term] id: MONDO:0013044 @@ -297630,7 +296241,6 @@ xref: Orphanet:217023 {source="MONDO:equivalentObsolete", source="OMIM:612926"} xref: UMLS:C2752036 {source="MEDGEN:414541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001549 {source="MONDO:0013044/inferred", source="MONDO:Redundant", source="OMIM:612926"} ! hemolytic-uremic syndrome is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11784 {source="MONDO:mim2gene_medgen"} ! THBD [Term] id: MONDO:0013045 @@ -297680,7 +296290,7 @@ xref: UMLS:C2752027 {source="MEDGEN:442873", source="MONDO:equivalentTo", source is_a: MONDO:0002412 {source="DC-OMIM:612932", source="MESH:C567861", source="OMIM:612932", source="Orphanet:99849"} ! disorder of glycogen metabolism is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis relationship: excluded_subClassOf MONDO:0016118 {source="Orphanet:99849", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular glycogenosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3354 {source="MONDO:mim2gene_medgen"} ! ENO3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3354 {source="OMIM:612932"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -297721,10 +296331,10 @@ xref: UMLS:C2931743 {source="MEDGEN:419152", source="MONDO:equivalentTo", source is_a: MONDO:0002412 {source="MESH:C538133", source="MONDO:Redundant", source="OMIM:612933", source="Orphanet:284426/inferred"} ! disorder of glycogen metabolism is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis intersection_of: MONDO:0002412 {source="MONDO:mim2gene_medgen"} ! disorder of glycogen metabolism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6535 {source="MONDO:mim2gene_medgen"} ! LDHA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6535 {source="MONDO:mim2gene_medgen"} relationship: excluded_subClassOf MONDO:0016118 {source="Orphanet:284426", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular glycogenosis relationship: excluded_subClassOf MONDO:0016527 {source="Orphanet:284426", source="https://orcid.org/0000-0001-5208-3432"} ! glycogen storage disease due to lactate dehydrogenase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6535 {source="MONDO:mim2gene_medgen"} ! LDHA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6535 {source="OMIM:612933"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3160/lactate-dehydrogenase-a-deficiency" xsd:anyURI {source="GARD:0003160"} @@ -297756,8 +296366,8 @@ xref: Orphanet:280763 {source="DOID:0110802", source="OMIM:612936"} xref: UMLS:C2752008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442869"} is_a: MONDO:0019064 {source="DOID:0110802", source="MESH:C567858", source="MONDO:Redundant", source="OMIM:612936"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/574 ! AP4M1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/574 {source="MONDO:mim2gene_medgen"} ! AP4M1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/574 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/574 {source="OMIM:612936"} [Term] id: MONDO:0013049 @@ -297798,7 +296408,6 @@ is_a: MONDO:0017749 {source="Orphanet:263494"} ! disorder of multiple glycosylat is_a: MONDO:0018276 {source="Orphanet:263494"} ! muscular dystrophy-dystroglycanopathy relationship: excluded_subClassOf MONDO:0016333 {source="https://orcid.org/0000-0001-5208-3432"} ! familial dilated cardiomyopathy relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3007 {source="MONDO:mim2gene_medgen"} ! DPM3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -297823,7 +296432,6 @@ xref: Orphanet:210144 {source="MONDO:equivalentTo", source="OMIM:612938"} xref: UMLS:C2752001 {source="MEDGEN:414158", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021147 {source="Orphanet:210144", source="Orphanet:210144/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0043009 {source="Orphanet:210144"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24678 {source="MONDO:mim2gene_medgen"} ! FTO property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -297862,7 +296470,6 @@ is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a red intersection_of: MONDO:0019573 ! autosomal recessive cutis laxa type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9721 ! PYCR1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013051 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9721 {source="MONDO:mim2gene_medgen"} ! PYCR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1641/cutis-laxa-autosomal-recessive-type-2b" xsd:anyURI {source="GARD:0001641"} @@ -297888,7 +296495,6 @@ xref: UMLS:C2751986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:612943", source="DOID:0110386", source="MESH:C567854", source="MONDO:Redundant", source="OMIM:612943"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15646 ! KLHL7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15646 {source="MONDO:mim2gene_medgen"} ! KLHL7 [Term] id: MONDO:0013053 @@ -297973,9 +296579,9 @@ is_a: MONDO:0016801 {source="Orphanet:353217"} ! mitochondrial substrate carrier is_a: MONDO:0020070 {source="MONDO:Redundant", source="Orphanet:353217"} ! neonatal epilepsy syndrome is_a: MONDO:0100062 {source="DOID:0080349", source="OMIM:612949"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10982 ! SLC25A12 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10982 relationship: has_characteristic HP:0003623 {source="Orphanet:353217"} ! Neonatal onset -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10982 {source="MONDO:mim2gene_medgen"} ! SLC25A12 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10982 {source="OMIM:612949"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -298018,7 +296624,7 @@ xref: Orphanet:85136 {source="OMIM:612951", source="MONDO:equivalentTo"} xref: SCTID:720825005 {source="MONDO:equivalentTo"} xref: UMLS:C2751843 {source="MEDGEN:416646", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019046 {source="DOID:0081007", source="Orphanet:85136"} ! leukodystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21686 {source="MONDO:mim2gene_medgen"} ! RNASET2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21686 {source="OMIM:612951"} [Term] id: MONDO:0013059 @@ -298046,7 +296652,6 @@ is_a: MONDO:0700260 {source="https://clinicalgenome.org/affiliation/40060/", sou intersection_of: MONDO:0018866 ! Aicardi-Goutieres syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15925 ! SAMHD1 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:612952"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15925 {source="MONDO:mim2gene_medgen"} ! SAMHD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI [Term] @@ -298086,7 +296691,6 @@ intersection_of: MONDO:0008199 ! late-onset Parkinson disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9039 ! PLA2G6 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: excluded_subClassOf MONDO:0018329 {source="Orphanet:199351", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete persistent combined dystonia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9039 {source="MONDO:mim2gene_medgen"} ! PLA2G6 [Term] id: MONDO:0013061 @@ -298120,7 +296724,6 @@ is_a: MONDO:0005336 {source="DOID:0080097", source="MONDO:Redundant", source="MO is_a: MONDO:0018943 {source="DOID:0080097", source="MONDO:Redundant", source="OMIM:612954", source="Orphanet:199340"} ! myofibrillar myopathy intersection_of: MONDO:0018943 ! myofibrillar myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/939 ! BAG3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/939 {source="MONDO:mim2gene_medgen"} ! BAG3 [Term] id: MONDO:0013062 @@ -298146,9 +296749,9 @@ xref: Orphanet:768 {source="OMIM:612955"} xref: UMLS:C2751830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442824"} is_a: MONDO:0019171 {source="OMIM:612955", source="Orphanet:101016-prototype"} ! familial long QT syndrome intersection_of: MONDO:0019171 ! familial long QT syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11167 ! SNTA1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11167 relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110653", source="MESH:C567842", source="OMIM:612955", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11167 {source="MONDO:mim2gene_medgen"} ! SNTA1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11167 {source="OMIM:612955"} [Term] id: MONDO:0013063 @@ -298170,7 +296773,6 @@ xref: UMLS:C2751829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0100234 {source="MESH:C567841", source="MONDO:Redundant", source="MONDO:indirect"} ! paroxysmal familial ventricular fibrillation intersection_of: MONDO:0100234 ! paroxysmal familial ventricular fibrillation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3010 ! DPP6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3010 {source="MONDO:mim2gene_medgen"} ! DPP6 [Term] id: MONDO:0013064 @@ -298193,8 +296795,8 @@ xref: Orphanet:3237 {source="OMIM:612961"} xref: UMLS:C2751826 {source="MEDGEN:414116", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017923 {source="DC-OMIM:612961", source="DOID:0081319", source="MONDO:Redundant", source="OMIM:612961"} ! multiple synostoses syndrome intersection_of: MONDO:0017923 ! multiple synostoses syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3687 ! FGF9 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3687 {source="MONDO:mim2gene_medgen"} ! FGF9 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3687 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3687 {source="OMIM:612961"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -298221,7 +296823,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0019852 {source="DC-OMIM:612964", source="MESH:C567838", source="OMIM:612964"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7983 ! NR5A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7983 {source="MONDO:mim2gene_medgen"} ! NR5A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -298249,7 +296850,6 @@ xref: Orphanet:251510 {source="OMIM:612965"} xref: UMLS:C3489793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483746"} is_a: MONDO:0010765 {source="DOID:0111772", source="OMIM:612965", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7983 {source="MONDO:mim2gene_medgen"} ! NR5A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -298279,7 +296879,6 @@ xref: UMLS:C2751822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005129 {source="DOID:0110230", source="MESH:C567835", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:612968"} ! cataract intersection_of: MONDO:0005129 ! cataract intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3808 ! FOXE3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3808 {source="MONDO:mim2gene_medgen"} ! FOXE3 [Term] id: MONDO:0013068 @@ -298316,7 +296915,7 @@ xref: Orphanet:227976 {source="MONDO:equivalentTo", source="OMIM:612989"} xref: UMLS:C2751812 {source="MEDGEN:414112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0043878 {source="DC-OMIM:612989", source="MESH:C567833/inferred", source="OMIM:612989"} ! hereditary optic atrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25382 {source="MONDO:mim2gene_medgen"} ! TMEM126A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25382 {source="OMIM:612989"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -298336,6 +296935,7 @@ xref: OMIM:612997 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:612997"} xref: UMLS:C2751811 {source="MEDGEN:414478", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="DC-OMIM:612997", source="DOID:0070173", source="OMIM:612997"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17116 {source="OMIM:612997"} [Term] id: MONDO:0013071 @@ -298362,7 +296962,6 @@ is_a: MONDO:0016830 {source="MESH:C567831", source="MONDO:Redundant", source="OM is_a: MONDO:0020336 {source="MONDO:Redundant", source="Orphanet:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy intersection_of: MONDO:0020336 ! autosomal dominant Emery-Dreifuss muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17089 ! SYNE1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17089 {source="MONDO:mim2gene_medgen"} ! SYNE1 [Term] id: MONDO:0013072 @@ -298386,8 +296985,8 @@ xref: UMLS:C2751805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016830 {source="MONDO:Redundant", source="OMIM:612999"} ! Emery-Dreifuss muscular dystrophy is_a: MONDO:0020336 {source="MONDO:Redundant", source="Orphanet:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy intersection_of: MONDO:0020336 ! autosomal dominant Emery-Dreifuss muscular dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17084 ! SYNE2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17084 {source="MONDO:mim2gene_medgen"} ! SYNE2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17084 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17084 {source="OMIM:612999"} [Term] id: MONDO:0013073 @@ -298414,7 +297013,6 @@ is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="htt is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0017672 {source="https://orcid.org/0000-0001-5208-3432"} ! focal palmoplantar keratoderma relationship: excluded_subClassOf MONDO:0006588 {source="DC-OMIM:613000", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nonepidermolytic palmoplantar keratoderma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6423 {source="MONDO:mim2gene_medgen"} ! KRT16 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3108" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -298449,7 +297047,6 @@ xref: UMLS:C0406612 {source="MEDGEN:140807", source="MONDO:equivalentTo", source is_a: MONDO:0002531 {source="MONDO:Entailed", source="Orphanet:2396/inferred"} ! skin neoplasm is_a: MONDO:0006574 {source="MESH:C535736", source="NCIT:C4701"} ! lipomatosis is_a: MONDO:0019296 {source="Orphanet:2396"} ! subcutaneous tissue disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 {source="MONDO:mim2gene_medgen"} ! FGFR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2108/encephalocraniocutaneous-lipomatosis" xsd:anyURI {source="GARD:0002108"} @@ -298485,7 +297082,6 @@ xref: UMLS:C2751802 {source="MONDO:equivalentTo", source="MEDGEN:416637", source intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20692 ! TPH2 intersection_of: predisposes_towards MONDO:0005302 ! attention deficit hyperactivity disorder, inattentive type -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20692 {source="MONDO:mim2gene_medgen"} ! TPH2 [Term] id: MONDO:0013077 @@ -298582,12 +297178,12 @@ xref: UMLS:C3552634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016537 {source="DOID:0060707", source="MESH:C567815", source="MONDO:Redundant", source="OMIM:613011", source="Orphanet:538963"} ! lymphoproliferative syndrome is_a: MONDO:0021094 {source="NCIT:C126344"} ! immunodeficiency disease intersection_of: MONDO:0016537 ! lymphoproliferative syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6171 ! ITK +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6171 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013081 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000001 {source="Orphanet:538963", source="https://orcid.org/0000-0001-5208-3432"} ! disease relationship: excluded_subClassOf MONDO:0016536 {source="Orphanet:238505/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal recessive lymphoproliferative disease relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:538963", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6171 {source="MONDO:mim2gene_medgen", source="Orphanet:538963"} ! ITK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6171 {source="OMIM:613011"} [Term] id: MONDO:0013082 @@ -298634,11 +297230,11 @@ xref: Orphanet:635 {source="MONDO:relatedTo", source="OMIM:613014"} xref: UMLS:C2751681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414083"} is_a: MONDO:0020573 {source="OMIM:613014"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/427 ! ALK +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/427 intersection_of: predisposes_towards MONDO:0005072 ! neuroblastoma relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013083 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0005072 {source="DC-OMIM:613014", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! neuroblastoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/427 {source="MONDO:mim2gene_medgen"} ! ALK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/427 {source="OMIM:613014"} relationship: predisposes_towards MONDO:0005072 {source="OMIM:613014"} ! neuroblastoma [Term] @@ -298710,7 +297306,6 @@ is_a: MONDO:0004822 {source="MESH:C567813", source="MONDO:Redundant", source="OM is_a: MONDO:0018956 {source="Orphanet:60033/btnt"} ! idiopathic bronchiectasis intersection_of: MONDO:0004822 ! bronchiectasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10599 ! SCNN1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10599 {source="MONDO:mim2gene_medgen"} ! SCNN1A [Term] id: MONDO:0013088 @@ -298729,7 +297324,6 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/989 ! BCL10 intersection_of: predisposes_towards MONDO:0018906 ! follicular lymphoma relationship: excluded_subClassOf MONDO:0018906 {source="Orphanet:545/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! follicular lymphoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/989 {source="MONDO:mim2gene_medgen"} ! BCL10 relationship: predisposes_towards MONDO:0018906 {source="OMIM:613024"} ! follicular lymphoma property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -298816,8 +297410,8 @@ xref: Orphanet:264580 {source="OMIM:613027"} xref: UMLS:C2751643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442778"} is_a: MONDO:0020693 {source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! glycogen storage disease due to liver phosphorylase kinase deficiency intersection_of: MONDO:0002412 {source="MONDO:mim2gene_medgen"} ! disorder of glycogen metabolism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8931 {source="MONDO:mim2gene_medgen"} ! PHKG2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8931 {source="MONDO:mim2gene_medgen", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! PHKG2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8931 {source="MONDO:mim2gene_medgen"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8931 {source="OMIM:613027"} [Term] id: MONDO:0013092 @@ -298839,7 +297433,6 @@ is_a: MONDO:0100242 {source="OMIM:613028"} ! glioma susceptibility intersection_of: MONDO:0100242 ! glioma susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 ! PTEN intersection_of: predisposes_towards MONDO:0100342 ! malignant glioma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 {source="MONDO:mim2gene_medgen"} ! PTEN [Term] id: MONDO:0013093 @@ -298863,7 +297456,6 @@ is_a: MONDO:0100242 {source="OMIM:613029"} ! glioma susceptibility intersection_of: MONDO:0100242 ! glioma susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1101 ! BRCA2 intersection_of: predisposes_towards MONDO:0100342 ! malignant glioma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1101 {source="MONDO:mim2gene_medgen"} ! BRCA2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -298906,6 +297498,7 @@ xref: OMIM:613032 {source="MONDO:equivalentTo"} xref: Orphanet:182067 {source="OMIM:613032"} xref: UMLS:C2751638 {source="MEDGEN:416602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100242 {source="OMIM:613032"} ! glioma susceptibility +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28416 {source="OMIM:613032"} relationship: predisposes_towards MONDO:0100342 ! malignant glioma [Term] @@ -299041,7 +297634,7 @@ xref: Orphanet:307 {source="OMIM:613060"} xref: Orphanet:36387 {source="OMIM:613060"} xref: UMLS:C2751603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414062"} is_a: MONDO:0020573 {source="OMIM:600669"} ! inherited disease susceptibility -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4084 {source="MONDO:mim2gene_medgen"} ! GABRD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4084 {source="OMIM:613060"} relationship: predisposes_towards MONDO:0005579 {source="OMIM:600669"} ! epilepsy, idiopathic generalized property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -299186,7 +297779,7 @@ is_a: MONDO:0005528 {source="DOID:0050719"} ! inborn vitamin metabolic disorder is_a: MONDO:0017313 {source="Orphanet:217382"} ! disorder of folate metabolism and transport is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:217382"} ! inherited neurodegenerative disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013110 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3791 {source="MONDO:mim2gene_medgen"} ! FOLR1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3791 {source="OMIM:613068"} [Term] id: MONDO:0013111 @@ -299222,7 +297815,6 @@ intersection_of: MONDO:0000023 ! infantile liver failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25481 ! TRMU relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic PATO:0000389 ! acute -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25481 {source="MONDO:mim2gene_medgen"} ! TRMU property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -299249,7 +297841,6 @@ is_a: MONDO:0004822 {source="MESH:C567772", source="MONDO:Redundant", source="OM is_a: MONDO:0018956 {source="Orphanet:60033/btnt"} ! idiopathic bronchiectasis intersection_of: MONDO:0004822 ! bronchiectasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10602 ! SCNN1G -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10602 {source="MONDO:mim2gene_medgen"} ! SCNN1G [Term] id: MONDO:0013113 @@ -299271,8 +297862,8 @@ xref: Orphanet:1040 {source="OMIM:613073"} xref: UMLS:C2751322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414350"} is_a: MONDO:0015177 {source="MONDO:Redundant", source="Orphanet:1040/btnt"} ! metaphyseal anadysplasia intersection_of: MONDO:0015177 ! metaphyseal anadysplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7176 ! MMP9 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7176 {source="MONDO:mim2gene_medgen"} ! MMP9 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7176 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7176 {source="OMIM:613073"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -299296,8 +297887,8 @@ xref: OMIM:613074 {source="MONDO:equivalentTo", source="DOID:0110576"} xref: UMLS:C3888123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854780"} is_a: MONDO:0019587 {source="DC-OMIM:613074", source="DOID:0110576", source="MONDO:Redundant", source="OMIM:613074"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31648 ! MIR96 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31648 {source="MONDO:mim2gene_medgen"} ! MIR96 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31648 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31648 {source="OMIM:613074"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI [Term] @@ -299329,7 +297920,7 @@ xref: SCTID:723367005 {source="MONDO:equivalentTo"} xref: UMLS:C2751321 {source="MEDGEN:416526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100237 {source="MESH:C567770", source="Orphanet:217335"} ! inherited cutis laxa relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013115 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18750 {source="MONDO:mim2gene_medgen"} ! RIN2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18750 {source="OMIM:613075"} [Term] id: MONDO:0013116 @@ -299357,7 +297948,7 @@ xref: UMLS:C2751320 {source="MEDGEN:416525", source="MONDO:equivalentTo", source is_a: MONDO:0009637 {source="MESH:C567769", source="Orphanet:330054"} ! inborn mitochondrial myopathy is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4236 {source="MONDO:mim2gene_medgen"} ! GFER +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4236 {source="OMIM:613076"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -299385,7 +297976,6 @@ is_a: MONDO:0000090 {source="MONDO:0013117/inferred", source="MONDO:Redundant", is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17296 ! RRM2B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17296 {source="MONDO:mim2gene_medgen"} ! RRM2B [Term] id: MONDO:0013118 @@ -299417,7 +298007,7 @@ xref: UMLS:C2751318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015161 {source="Orphanet:240760"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:240760", source="Orphanet:240760/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0021190 {source="PMID:19409520", source="PMID:23684796"} ! DNA repair disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9816 {source="MONDO:mim2gene_medgen"} ! RAD50 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9816 {source="OMIM:613078"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5347" xsd:anyURI [Term] @@ -299445,8 +298035,8 @@ xref: OMIM:613079 {source="DOID:0110525", source="MONDO:equivalentTo"} xref: UMLS:C2746083 {source="MEDGEN:412541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:613079", source="DOID:0110525", source="MONDO:Redundant", source="OMIM:613079"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26521 ! LOXHD1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26521 {source="MONDO:mim2gene_medgen"} ! LOXHD1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26521 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26521 {source="OMIM:613079"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -299473,7 +298063,7 @@ xref: OMIM:613080 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:613080"} xref: UMLS:C2751317 {source="MONDO:equivalentTo", source="MEDGEN:414349", source="MONDO:MEDGEN"} is_a: MONDO:0010765 {source="DOID:0111776", source="MESH:C567766", source="OMIM:613080", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1552 {source="MONDO:mim2gene_medgen"} ! CBX2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1552 {source="OMIM:613080"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -299510,7 +298100,6 @@ is_a: MONDO:0000365 ! primary congenital glaucoma is_a: MONDO:0020366 {source="MONDO:Redundant", source="Orphanet:98976/btnt"} ! congenital glaucoma is_a: MONDO:0100236 {source="https://clinicalgenome.org/affiliation/40077/"} ! LTBP2-related ocular dysgenesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013122 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6715 {source="MONDO:mim2gene_medgen"} ! LTBP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5787" xsd:anyURI [Term] @@ -299535,8 +298124,8 @@ xref: Orphanet:1478 {source="OMIM:613087"} xref: UMLS:C2751315 {source="MEDGEN:414348", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006664 {source="DC-OMIM:613087", source="DOID:0110111", source="MESH:C567764", source="MONDO:Redundant", source="OMIM:613087"} ! atrial septal defect intersection_of: MONDO:0006664 ! atrial septal defect -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11843 ! TLL1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11843 {source="MONDO:mim2gene_medgen"} ! TLL1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11843 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11843 {source="OMIM:613087"} [Term] id: MONDO:0013124 @@ -299641,6 +298230,7 @@ is_a: MONDO:0002254 {source="DOID:0050549", source="MONDO:0019663/inferred", sou is_a: MONDO:0015461 {source="MESH:C537602", source="Orphanet:93270", source="Orphanet:93271"} ! short rib-polydactyly syndrome is_a: MONDO:0018770 {source="DOID:0110087", source="OMIM:613091"} ! Jeune syndrome is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2962 {source="OMIM:613091"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4148" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -299682,7 +298272,6 @@ is_a: MONDO:0015962 {source="Orphanet:217330", source="Orphanet:217330/inferred" intersection_of: MONDO:0000608 ! familial juvenile hyperuricemic nephropathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9958 ! REN relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013128 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9958 {source="MONDO:mim2gene_medgen"} ! REN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -299708,8 +298297,8 @@ xref: Orphanet:49382 {source="MONDO:relatedTo", source="OMIM:613093"} xref: UMLS:C2751308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416518"} is_a: MONDO:0000455 {source="DC-OMIM:613093", source="MONDO:Redundant"} ! cone dystrophy intersection_of: MONDO:0000455 ! cone dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8787 ! PDE6C -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8787 {source="MONDO:mim2gene_medgen"} ! PDE6C +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8787 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8787 {source="OMIM:613093"} [Term] id: MONDO:0013130 @@ -299735,7 +298324,6 @@ is_a: MONDO:0000062 {source="DC-OMIM:613094", source="DOID:0060836", source="MON is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4221 ! GDF6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4221 {source="MONDO:mim2gene_medgen"} ! GDF6 [Term] id: MONDO:0013131 @@ -299765,9 +298353,9 @@ xref: SCTID:253879006 {source="MONDO:equivalentTo"} xref: UMLS:C2751306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442699"} is_a: MONDO:0004691 {source="DC-OMIM:613095", source="DOID:0110859", source="MONDO:Redundant", source="NCIT:C123166", source="OMIM:613095"} ! autosomal dominant polycystic kidney disease intersection_of: MONDO:0004691 ! autosomal dominant polycystic kidney disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9009 ! PKD2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9009 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613095"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9009 {source="MONDO:mim2gene_medgen"} ! PKD2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9009 {source="OMIM:613095"} [Term] id: MONDO:0013132 @@ -299817,7 +298405,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial melanoma relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:613099", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6929 {source="MONDO:mim2gene_medgen"} ! MC1R relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -299841,9 +298428,9 @@ xref: UMLS:C2751294 {source="MEDGEN:416515", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease is_a: MONDO:0005338 {source="MONDO:Redundant"} ! open-angle glaucoma intersection_of: MONDO:0005338 ! open-angle glaucoma -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8024 ! NTF4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8024 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013134 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8024 {source="MONDO:mim2gene_medgen"} ! NTF4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8024 {source="OMIM:613100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -299873,9 +298460,9 @@ xref: Orphanet:540 {source="OMIM:613101", source="MONDO:directSiblingOf"} xref: UMLS:C2751293 {source="MEDGEN:416514", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015541 {source="MONDO:Redundant", source="OMIM:613101", source="https://orcid.org/0000-0002-6601-2165"} ! hereditary hemophagocytic lymphohistiocytosis intersection_of: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11445 ! STXBP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11445 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013135 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11445 {source="MONDO:mim2gene_medgen"} ! STXBP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11445 {source="OMIM:613101"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -299898,6 +298485,7 @@ xref: Orphanet:217407 {source="OMIM:613102", source="MONDO:equivalentTo"} xref: SCTID:724350009 {source="MONDO:equivalentTo"} xref: UMLS:C2751292 {source="MEDGEN:442697", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004907 {source="Orphanet:217407"} ! alopecia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3037 {source="OMIM:613102"} [Term] id: MONDO:0013137 @@ -299920,7 +298508,6 @@ xref: UMLS:C2751290 {source="MONDO:equivalentTo", source="MEDGEN:442696", source is_a: MONDO:0008982 {source="MONDO:Redundant", source="OMIM:613105", source="Orphanet:75377/btnt"} ! central areolar choroidal dystrophy intersection_of: MONDO:0008982 ! central areolar choroidal dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9942 ! PRPH2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9942 {source="MONDO:mim2gene_medgen"} ! PRPH2 [Term] id: MONDO:0013138 @@ -299959,7 +298546,6 @@ is_a: MONDO:0008742 {source="DOID:0112131", source="MONDO:Redundant", source="Or is_a: MONDO:0018542 {source="MONDO:Redundant", source="OMIM:613107"} ! severe congenital neutropenia intersection_of: MONDO:0008742 ! autosomal dominant severe congenital neutropenia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4237 ! GFI1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4237 {source="MONDO:mim2gene_medgen"} ! GFI1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -299985,7 +298571,6 @@ xref: UMLS:C0341024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015279 {source="MONDO:Redundant", source="OMIM:613108"} ! chronic mucocutaneous candidiasis intersection_of: MONDO:0015279 ! chronic mucocutaneous candidiasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14558 ! CLEC7A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14558 {source="MONDO:mim2gene_medgen"} ! CLEC7A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -300019,8 +298604,8 @@ xref: Orphanet:970 {source="OMIM:613115"} xref: UMLS:C2751092 {source="MEDGEN:413474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019941 {source="DOID:0070150", source="MONDO:Redundant", source="Orphanet:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2 intersection_of: MONDO:0019941 ! hereditary sensory and autonomic neuropathy type 2 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25964 ! RETREG1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25964 {source="MONDO:mim2gene_medgen"} ! RETREG1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25964 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25964 {source="OMIM:613115"} [Term] id: MONDO:0013143 @@ -300050,7 +298635,7 @@ is_a: MONDO:0018374 {source="MONDO:0016320-obsoleted"} ! secondary avascular nec is_a: MONDO:0021181 {source="MONDO:0016320-obsoleted"} ! inherited blood coagulation disorder is_a: MONDO:0100240 {source="DC-OMIM:613116", source="MESH:C567737", source="MONDO:0016320-obsoleted", source="OMIM:613116"} ! inherited thrombophilia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013143 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5181 {source="MONDO:mim2gene_medgen"} ! HRG +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5181 {source="OMIM:613116"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -300096,7 +298681,7 @@ is_a: MONDO:0018374 {source="MONDO:0016320-obsoleted"} ! secondary avascular nec is_a: MONDO:0021181 {source="MONDO:0016320-obsoleted"} ! inherited blood coagulation disorder is_a: MONDO:0100240 {source="DC-OMIM:613118", source="MESH:D020152", source="MONDO:0016320-obsoleted", source="OMIM:613118"} ! inherited thrombophilia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013144 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/775 {source="MONDO:mim2gene_medgen"} ! SERPINC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/775 {source="OMIM:613118"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -300121,8 +298706,8 @@ xref: Orphanet:130 {source="OMIM:613119"} xref: UMLS:C2751089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413473"} is_a: MONDO:0015263 {source="DC-OMIM:613119", source="DOID:0110223", source="MESH:C567735", source="MONDO:Redundant", source="OMIM:613119"} ! Brugada syndrome intersection_of: MONDO:0015263 ! Brugada syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6243 ! KCNE3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6243 {source="MONDO:mim2gene_medgen"} ! KCNE3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6243 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6243 {source="OMIM:613119"} [Term] id: MONDO:0013146 @@ -300148,7 +298733,6 @@ xref: UMLS:C2751088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015263 {source="DC-OMIM:613120", source="DOID:0110224", source="MESH:C567734", source="MONDO:Redundant", source="OMIM:613120"} ! Brugada syndrome intersection_of: MONDO:0015263 ! Brugada syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20665 ! SCN3B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20665 {source="MONDO:mim2gene_medgen"} ! SCN3B [Term] id: MONDO:0013147 @@ -300172,7 +298756,6 @@ xref: OMIM:613122 {source="DOID:0110424", source="MONDO:equivalentTo"} xref: Orphanet:154 {source="OMIM:613122"} xref: UMLS:C2751084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413929"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613122"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29557 {source="MONDO:mim2gene_medgen"} ! NEXN [Term] id: MONDO:0013148 @@ -300196,7 +298779,6 @@ xref: UMLS:C2751083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015263 {source="DC-OMIM:613123", source="DOID:0110225", source="MESH:C567732", source="MONDO:Redundant", source="OMIM:613123"} ! Brugada syndrome intersection_of: MONDO:0015263 ! Brugada syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16882 ! HCN4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16882 {source="MONDO:mim2gene_medgen"} ! HCN4 [Term] id: MONDO:0013149 @@ -300296,8 +298878,8 @@ xref: UMLS:C2751053 {source="MONDO:equivalentTo", source="MEDGEN:442630", source is_a: MONDO:0005265 {source="DOID:0110899", source="MESH:C567728", source="MONDO:Redundant", source="OMIM:613148"} ! inflammatory bowel disease is_a: MONDO:0016542 {source="Orphanet:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome intersection_of: MONDO:0005265 ! inflammatory bowel disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5964 ! IL10RA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5964 {source="MONDO:mim2gene_medgen"} ! IL10RA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5964 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5964 {source="OMIM:613148"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -300326,7 +298908,6 @@ is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-ey is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C126742", source="OMIM:613150/inferred"} ! muscular dystrophy is_a: MONDO:0700071 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT2 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19743 {source="MONDO:mim2gene_medgen"} ! POMT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -300349,7 +298930,6 @@ xref: UMLS:C3150412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000172 {source="DOID:0112378", source="OMIM:613151"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0700068 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19139 {source="MONDO:mim2gene_medgen"} ! POMGNT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -300372,7 +298952,6 @@ xref: UMLS:C2751052 {source="MEDGEN:413465", source="MONDO:equivalentTo", source is_a: MONDO:0000172 {source="DOID:0112379", source="OMIM:613152"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0700067 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKTN relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3622 {source="MONDO:mim2gene_medgen"} ! FKTN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -300397,7 +298976,6 @@ is_a: MONDO:0000171 {source="OMIM:613153", source="Orphanet:899/btnt"} ! muscula is_a: MONDO:0016156 {source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of FKRP is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-eye-brain disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17997 {source="MONDO:mim2gene_medgen"} ! FKRP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -300424,7 +299002,6 @@ is_a: MONDO:0000171 {source="OMIM:613154", source="Orphanet:899/btnt"} ! muscula is_a: MONDO:0018939 ! muscle-eye-brain disease is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C126743", source="OMIM:613154/inferred"} ! muscular dystrophy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6511 {source="MONDO:mim2gene_medgen"} ! LARGE1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -300447,7 +299024,6 @@ xref: UMLS:C5436962 {source="MEDGEN:1774807", source="MONDO:equivalentTo", sourc is_a: MONDO:0000172 {source="DC-OMIM:613155", source="DOID:0050588", source="OMIM:613155"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0700070 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9202 {source="MONDO:mim2gene_medgen"} ! POMT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -300474,7 +299050,6 @@ xref: UMLS:C3150416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000172 {source="DC-OMIM:613156", source="DOID:0112380", source="OMIM:613156"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C126690", source="OMIM:613156"} ! muscular dystrophy is_a: MONDO:0700071 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19743 {source="MONDO:mim2gene_medgen"} ! POMT2 [Term] id: MONDO:0013161 @@ -300511,7 +299086,6 @@ is_a: MONDO:0700068 {source="https://clinicalgenome.org/affiliation/50061/"} ! m intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19139 ! POMGNT1 relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19139 {source="MONDO:mim2gene_medgen"} ! POMGNT1 [Term] id: MONDO:0013162 @@ -300549,7 +299123,6 @@ intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystro intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19743 ! POMT2 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19743 {source="MONDO:mim2gene_medgen"} ! POMT2 [Term] id: MONDO:0013163 @@ -300573,10 +299146,10 @@ xref: Orphanet:655 {source="OMIM:613159"} xref: UMLS:C3150419 {source="MEDGEN:461769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019005 {source="DC-OMIM:613159", source="DOID:0111117", source="MONDO:Redundant", source="OMIM:613159"} ! nephronophthisis intersection_of: MONDO:0019005 ! nephronophthisis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28052 ! XPNPEP3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28052 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013163 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613159"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28052 {source="MONDO:mim2gene_medgen"} ! XPNPEP3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28052 {source="OMIM:613159"} [Term] id: MONDO:0013164 @@ -300603,7 +299176,7 @@ xref: Orphanet:65287 {source="MONDO:equivalentTo", source="OMIM:613161"} xref: SCTID:124511000 {source="MONDO:equivalentTo"} xref: UMLS:C1291512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226944"} is_a: MONDO:0019238 {source="Orphanet:65287"} ! inborn disorder of pyrimidine metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16297 {source="MONDO:mim2gene_medgen"} ! UPB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16297 {source="OMIM:613161"} [Term] id: MONDO:0013165 @@ -300634,7 +299207,7 @@ xref: SCTID:765753004 {source="MONDO:equivalentTo"} xref: UMLS:C3888209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854816"} is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110797", source="MONDO:Redundant", source="OMIM:613162", source="Orphanet:320396/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8022 {source="MONDO:mim2gene_medgen"} ! NT5C2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8022 {source="OMIM:613162"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -300671,7 +299244,7 @@ xref: UMLS:C0342708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000698 {source="DOID:0060174", source="Orphanet:2066"} ! gamma-amino butyric acid metabolism disorder is_a: MONDO:0017684 {source="Orphanet:2066"} ! disorder of beta and omega amino acid metabolism relationship: disease_has_basis_in_disruption_of GO:0003867 ! 4-aminobutyrate transaminase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23 {source="MONDO:mim2gene_medgen"} ! ABAT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23 {source="OMIM:613163"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5915" xsd:anyURI [Term] @@ -300706,7 +299279,7 @@ xref: MESH:C567725 {source="MONDO:equivalentTo"} xref: OMIM:613172 {source="DOID:0110447", source="MONDO:equivalentTo"} xref: UMLS:C2750995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416441"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613172"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27424 {source="MONDO:mim2gene_medgen"} ! RBM20 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27424 {source="OMIM:613172"} [Term] id: MONDO:0013169 @@ -300772,8 +299345,8 @@ xref: UMLS:C2750804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0100237 {source="DC-OMIM:613177", source="DOID:0070139/inferred", source="MESH:C567716", source="MONDO:Redundant", source="OMIM:613177", source="Orphanet:221145"} ! inherited cutis laxa intersection_of: MONDO:0100237 ! inherited cutis laxa intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6717 ! LTBP4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6717 {source="MONDO:mim2gene_medgen"} ! LTBP4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6717 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6717 {source="OMIM:613177"} [Term] id: MONDO:0013171 @@ -300812,7 +299385,7 @@ xref: UMLS:C0268125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019236 {source="Orphanet:760"} ! inborn disorder of purine metabolism relationship: excluded_subClassOf MONDO:0015974 {source="NCIT:C3963", source="https://github.com/monarch-initiative/mondo-build/issues/108", source="https://orcid.org/0000-0001-5208-3432"} ! severe combined immunodeficiency relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:760", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7892 {source="MONDO:mim2gene_medgen"} ! PNP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7892 {source="OMIM:613179"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4606/purine-nucleoside-phosphorylase-deficiency" xsd:anyURI {source="GARD:0004606"} @@ -300843,7 +299416,6 @@ relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:250972", sourc relationship: excluded_subClassOf MONDO:0015220 {source="MONDO:0017120-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with a central nervous system malformation as major feature relationship: excluded_subClassOf MONDO:0015310 {source="Orphanet:250972", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic optic nerve hypoplasia relationship: excluded_subClassOf MONDO:0015655 {source="Orphanet:250972", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete cerebral malformation with epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12410 {source="MONDO:mim2gene_medgen"} ! TUBA8 [Term] id: MONDO:0013173 @@ -300868,8 +299440,8 @@ xref: OMIM:613192 {source="MONDO:equivalentTo"} xref: UMLS:C2750791 {source="MONDO:equivalentTo", source="MEDGEN:442564", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DC-OMIM:613192", source="DOID:0081098", source="MONDO:Redundant", source="OMIM:613192"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30832 ! TRAPPC9 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30832 {source="MONDO:mim2gene_medgen"} ! TRAPPC9 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30832 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30832 {source="OMIM:613192"} [Term] id: MONDO:0013174 @@ -300898,9 +299470,9 @@ xref: Orphanet:244 {source="OMIM:613193"} xref: UMLS:C2750790 {source="MEDGEN:413399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:613193", source="DOID:0110618", source="MESH:C567713", source="MONDO:Redundant", source="OMIM:613193"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30539 ! DNAAF1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30539 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013174 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30539 {source="MONDO:mim2gene_medgen"} ! DNAAF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30539 {source="OMIM:613193"} [Term] id: MONDO:0013175 @@ -300926,7 +299498,6 @@ xref: UMLS:C2750789 {source="MEDGEN:442563", source="MONDO:equivalentTo", source is_a: MONDO:0019200 {source="DC-OMIM:613194", source="DOID:0110396", source="MESH:C567712", source="MONDO:Redundant", source="OMIM:613194"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 ! BEST1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="MONDO:mim2gene_medgen"} ! BEST1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -300953,7 +299524,7 @@ xref: UMLS:C2750787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0018096 {source="DC-OMIM:613195", source="OMIM:613195"} ! Weill-Marchesani syndrome is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17109 {source="MONDO:mim2gene_medgen"} ! ADAMTS17 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17109 {source="OMIM:613195"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -300985,9 +299556,9 @@ xref: Orphanet:34520 {source="OMIM:613204", source="DOID:0110639", source="MONDO xref: UMLS:C2750786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413044"} is_a: MONDO:0019950 {source="DOID:0110639", source="MONDO:Redundant", source="Orphanet:34520"} ! congenital muscular dystrophy intersection_of: MONDO:0019950 ! congenital muscular dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6143 ! ITGA7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6143 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6143 {source="MONDO:mim2gene_medgen"} ! ITGA7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6143 {source="OMIM:613204"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -301023,7 +299594,6 @@ is_a: MONDO:0019950 {source="DOID:0110640", source="MONDO:Redundant", source="Or intersection_of: MONDO:0019950 ! congenital muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 ! LMNA relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12585/congenital-muscular-dystrophy-due-to-lmna-mutation" xsd:anyURI {source="GARD:0012585"} @@ -301056,7 +299626,6 @@ xref: SCTID:723821002 {source="MONDO:equivalentTo"} xref: UMLS:C2750784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413042"} is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110796", source="MESH:C567707", source="MONDO:Redundant", source="OMIM:613206", source="Orphanet:320401/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17494 {source="MONDO:mim2gene_medgen"} ! GJC2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -301098,8 +299667,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110061", source="MESH:C567706", source="MONDO:Redundant", source="OMIM:613211"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26790 ! WDR72 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26790 {source="MONDO:mim2gene_medgen"} ! WDR72 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26790 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26790 {source="OMIM:613211"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -301159,9 +299728,9 @@ xref: UMLS:C2750747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016293 {source="DC-OMIM:613216", source="DOID:0110867", source="MONDO:Redundant", source="OMIM:613216"} ! congenital stationary night blindness is_a: MONDO:0800402 {source="https://clinicalgenome.org/affiliation/40072/"} ! TRPM1-related retinopathy intersection_of: MONDO:0016293 ! congenital stationary night blindness -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7146 ! TRPM1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7146 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7146 {source="MONDO:mim2gene_medgen"} ! TRPM1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7146 {source="OMIM:613216"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI @@ -301207,7 +299776,6 @@ is_a: MONDO:0000824 {source="DC-OMIM:613217", source="DOID:0060776", source="OMI intersection_of: MONDO:0000249 {source="MONDO:mim2gene_medgen"} ! secretory diarrhea intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11529 {source="MONDO:mim2gene_medgen"} ! EPCAM relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11529 {source="MONDO:mim2gene_medgen"} ! EPCAM property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -301229,7 +299797,6 @@ xref: UMLS:C2750733 {source="MEDGEN:442551", source="MONDO:equivalentTo", source intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11847 ! TLR1 intersection_of: predisposes_towards MONDO:0005124 ! leprosy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11847 {source="MONDO:mim2gene_medgen"} ! TLR1 [Term] id: MONDO:0013186 @@ -301255,7 +299822,6 @@ xref: UMLS:C2750732 {source="MEDGEN:413028", source="MONDO:equivalentTo", source is_a: MONDO:0018997 {source="DC-OMIM:613224", source="DOID:0060584", source="MESH:C548084", source="MONDO:Redundant", source="OMIM:613224"} ! Noonan syndrome intersection_of: MONDO:0018997 ! Noonan syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7989 ! NRAS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7989 {source="MONDO:mim2gene_medgen"} ! NRAS property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10701/noonan-syndrome-6" xsd:anyURI {source="GARD:0010701"} [Term] @@ -301280,7 +299846,6 @@ xref: SCTID:439455002 {source="MONDO:equivalentTo"} xref: UMLS:C2750514 {source="MEDGEN:442497", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018029 {source="MESH:C567691", source="Orphanet:331/btnt"} ! congenital factor XIII deficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013187 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3531 {source="MONDO:mim2gene_medgen"} ! F13A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -301307,8 +299872,8 @@ xref: Orphanet:1766 {source="OMIM:613227"} xref: UMLS:C2750509 {source="MEDGEN:442496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:613227", source="Orphanet:1766/btnt"} ! cerebellar ataxia, intellectual disability, and dysequilibrium intersection_of: MONDO:0009133 ! cerebellar ataxia, intellectual disability, and dysequilibrium -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1382 ! CA8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1382 {source="MONDO:mim2gene_medgen"} ! CA8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1382 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1382 {source="OMIM:613227"} [Term] id: MONDO:0013189 @@ -301329,7 +299894,6 @@ xref: SCTID:17155009 {source="MONDO:equivalentTo"} xref: UMLS:C0040953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21654"} is_a: MONDO:0001162 {source="DOID:0050587", source="NCIT:C94336"} ! impulse control disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20297 {source="MONDO:mim2gene_medgen"} ! SLITRK1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -301349,7 +299913,7 @@ xref: Orphanet:331 {source="OMIM:613235"} xref: UMLS:C2750481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442490"} is_a: MONDO:0018029 {source="MESH:C567688", source="Orphanet:331/btnt"} ! congenital factor XIII deficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013190 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3534 {source="MONDO:mim2gene_medgen"} ! F13B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3534 {source="OMIM:613235"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -301375,7 +299939,6 @@ xref: UMLS:C2750475 {source="MONDO:equivalentTo", source="MEDGEN:413315", source is_a: MONDO:0005363 {source="DC-OMIM:613237", source="DOID:0111130", source="MESH:C567687", source="MONDO:Redundant", source="OMIM:613237"} ! inherited focal segmental glomerulosclerosis intersection_of: MONDO:0005363 ! inherited focal segmental glomerulosclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23791 ! INF2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23791 {source="MONDO:mim2gene_medgen"} ! INF2 [Term] id: MONDO:0013192 @@ -301405,10 +299968,10 @@ xref: Orphanet:79102 {source="OMIM:613239"} xref: UMLS:C2750473 {source="MEDGEN:413851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:613239", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/39080 ! KCNJ18 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/39080 intersection_of: predisposes_towards MONDO:0019201 ! thyrotoxic periodic paralysis relationship: excluded_subClassOf MONDO:0019201 {source="OMIM:613239", source="https://orcid.org/0000-0001-5208-3432"} ! thyrotoxic periodic paralysis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/39080 {source="MONDO:mim2gene_medgen"} ! KCNJ18 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/39080 {source="OMIM:613239"} relationship: predisposes_towards MONDO:0019201 {source="OMIM:613239"} ! thyrotoxic periodic paralysis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -301447,7 +300010,6 @@ is_a: MONDO:0005045 {source="DC-OMIM:613243", source="DOID:0110319", source="MES is_a: MONDO:0024573 {source="DOID:0110319", source="MESH:C567686", source="MONDO:OMIM", source="OMIM:613243"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11943 ! TNNC1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11943 {source="MONDO:mim2gene_medgen"} ! TNNC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -301473,7 +300035,6 @@ is_a: MONDO:0018630 {source="MONDO:Redundant", source="OMIM:613244"} ! hereditar intersection_of: MONDO:0018630 ! hereditary nonpolyposis colon cancer intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11529 ! EPCAM relationship: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:613244", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11529 {source="MONDO:mim2gene_medgen"} ! EPCAM property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5666" xsd:anyURI [Term] @@ -301501,7 +300062,6 @@ is_a: MONDO:0005045 {source="DC-OMIM:613251", source="DOID:0110320", source="MES is_a: MONDO:0024573 {source="DOID:0110320", source="MESH:C567684", source="MONDO:OMIM", source="OMIM:613251"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 ! MYH6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 {source="MONDO:mim2gene_medgen"} ! MYH6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -301526,7 +300086,6 @@ xref: OMIM:613252 {source="MONDO:equivalentTo", source="DOID:0110453"} xref: Orphanet:154 {source="OMIM:613252"} xref: UMLS:C2750466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412965"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613252"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 {source="MONDO:mim2gene_medgen"} ! MYH6 [Term] id: MONDO:0013199 @@ -301579,7 +300138,6 @@ is_a: MONDO:0005045 {source="DC-OMIM:613255", source="DOID:0110321", source="MES is_a: MONDO:0024573 {source="DOID:0110321", source="MESH:C567681", source="MONDO:OMIM", source="OMIM:613255"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12665 ! VCL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12665 {source="MONDO:mim2gene_medgen"} ! VCL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -301611,7 +300169,6 @@ intersection_of: MONDO:0018094 ! Waardenburg syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3178 ! EDN3 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013201 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613265"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3178 {source="MONDO:mim2gene_medgen"} ! EDN3 [Term] id: MONDO:0013202 @@ -301638,7 +300195,6 @@ is_a: MONDO:0018094 {source="DC-OMIM:613266", source="DOID:0110955", source="OMI is_a: MONDO:0019518 {source="GARD:0005524/text"} ! Waardenburg-Shah syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013202 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613266"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11190 {source="MONDO:mim2gene_medgen"} ! SOX10 [Term] id: MONDO:0013203 @@ -301663,7 +300219,6 @@ xref: UMLS:C2750451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005321 {source="DC-OMIM:613267", source="MONDO:Redundant", source="OMIM:613267"} ! Fuchs' endothelial dystrophy intersection_of: MONDO:0005321 ! Fuchs' endothelial dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11634 ! TCF4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11634 {source="MONDO:mim2gene_medgen"} ! TCF4 [Term] id: MONDO:0013204 @@ -301687,7 +300242,6 @@ xref: UMLS:C2750450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005321 {source="DC-OMIM:613268", source="MONDO:Redundant", source="OMIM:613268"} ! Fuchs' endothelial dystrophy intersection_of: MONDO:0005321 ! Fuchs' endothelial dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16438 ! SLC4A11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16438 {source="MONDO:mim2gene_medgen"} ! SLC4A11 [Term] id: MONDO:0013205 @@ -301729,7 +300283,6 @@ xref: UMLS:C2750448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005321 {source="DC-OMIM:613270", source="MONDO:Redundant", source="OMIM:613270"} ! Fuchs' endothelial dystrophy intersection_of: MONDO:0005321 ! Fuchs' endothelial dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11642 ! ZEB1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11642 {source="MONDO:mim2gene_medgen"} ! ZEB1 [Term] id: MONDO:0013207 @@ -301777,7 +300330,7 @@ is_a: MONDO:0000214 {source="DC-OMIM:613280", source="DOID:0080536", source="OMI is_a: MONDO:0005066 {source="Orphanet:309854"} ! metabolic disease is_a: MONDO:0017766 {source="Orphanet:309854"} ! disorder of manganese transport is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25355 {source="MONDO:mim2gene_medgen"} ! SLC30A10 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25355 {source="OMIM:613280"} [Term] id: MONDO:0013209 @@ -301834,8 +300387,8 @@ xref: Orphanet:90636 {source="OMIM:613285"} xref: UMLS:C1414017 {source="MEDGEN:237587", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:613285", source="DOID:0110483", source="MONDO:Redundant", source="OMIM:613285"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31673 ! GRXCR1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31673 {source="MONDO:mim2gene_medgen"} ! GRXCR1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31673 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31673 {source="OMIM:613285"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -301859,7 +300412,6 @@ xref: OMIM:613286 {source="DOID:0110459", source="MONDO:equivalentTo"} xref: Orphanet:154 {source="OMIM:613286"} xref: UMLS:C2750091 {source="MEDGEN:412876", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613286"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11947 {source="MONDO:mim2gene_medgen"} ! TNNI3 [Term] id: MONDO:0013212 @@ -301894,7 +300446,6 @@ is_a: MONDO:0015626 {source="DOID:0110177/inferred", source="MESH:C567653", sour is_a: MONDO:0018993 {source="DOID:0110177", source="MONDO:Redundant", source="Orphanet:228174"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20 ! AARS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20 {source="MONDO:mim2gene_medgen"} ! AARS1 [Term] id: MONDO:0013213 @@ -301921,7 +300472,7 @@ xref: OMIM:613291 {source="MONDO:equivalentTo"} xref: Orphanet:449262 {source="MONDO:equivalentObsolete"} xref: UMLS:C5561934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794144"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10906 {source="MONDO:mim2gene_medgen"} ! SLC10A2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10906 {source="OMIM:613291"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -301949,8 +300500,8 @@ xref: OMIM:613307 {source="DOID:0110526", source="MONDO:equivalentTo"} xref: UMLS:C2750082 {source="MEDGEN:413222", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:613307", source="DOID:0110526", source="MONDO:Redundant", source="OMIM:613307"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26894 ! TPRN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26894 {source="MONDO:mim2gene_medgen"} ! TPRN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26894 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26894 {source="OMIM:613307"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -301979,8 +300530,8 @@ xref: Orphanet:124 {source="OMIM:613308"} xref: UMLS:C2750081 {source="MEDGEN:412874", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015253 {source="DC-OMIM:613308", source="DOID:0111884", source="MESH:C567650", source="MONDO:Redundant", source="OMIM:613308"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10383 ! RPS10 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10383 {source="MONDO:mim2gene_medgen"} ! RPS10 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10383 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10383 {source="OMIM:613308"} [Term] id: MONDO:0013217 @@ -302006,8 +300557,8 @@ xref: OMIM:613309 {source="MONDO:equivalentTo"} xref: UMLS:C2750080 {source="MEDGEN:412873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015253 {source="DC-OMIM:613309", source="DOID:0111888", source="MESH:C567649", source="MONDO:Redundant", source="OMIM:613309"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10414 ! RPS26 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10414 {source="MONDO:mim2gene_medgen"} ! RPS26 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10414 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10414 {source="OMIM:613309"} [Term] id: MONDO:0013218 @@ -302032,7 +300583,7 @@ is_a: MONDO:0019516 {source="DC-OMIM:613310", source="MONDO:Redundant", source=" is_a: MONDO:0100484 {source="https://clinicalgenome.org/affiliation/40072/"} ! TSPAN12-related vitreoretinopathy is_a: MONDO:0700231 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! TSPAN12-related exudative vitreoretinopathy relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21641 {source="MONDO:mim2gene_medgen"} ! TSPAN12 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21641 {source="OMIM:613310"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -302061,7 +300612,6 @@ is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder intersection_of: MONDO:0017324 ! autosomal recessive hypophosphatemic rickets intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3356 ! ENPP1 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613312"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3356 {source="MONDO:mim2gene_medgen"} ! ENPP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -302086,8 +300636,8 @@ xref: UMLS:C1865616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0006507 {source="DOID:0111032/inferred", source="MESH:C566557", source="MONDO:Redundant", source="OMIM:613313"} ! hereditary hemochromatosis is_a: MONDO:0019257 {source="DOID:0111032", source="MONDO:Redundant"} ! hemochromatosis type 2 intersection_of: MONDO:0019257 ! hemochromatosis type 2 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15598 ! HAMP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15598 {source="MONDO:mim2gene_medgen"} ! HAMP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15598 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15598 {source="OMIM:613313"} [Term] id: MONDO:0013221 @@ -302132,7 +300682,6 @@ xref: Orphanet:399096 {source="MONDO:equivalentTo", source="OMIM:613319"} xref: UMLS:C2750076 {source="MEDGEN:413750", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009685 {source="DOID:0070201", source="OMIM:613319"} ! Miyoshi myopathy is_a: MONDO:0018949 {source="DC-OMIM:613319", source="MONDO:Redundant", source="OMIM:613319", source="Orphanet:399096/inferred"} ! distal myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27337 {source="MONDO:mim2gene_medgen"} ! ANO5 [Term] id: MONDO:0013223 @@ -302164,8 +300713,8 @@ is_a: MONDO:0016763 {source="DOID:0112304", source="OMIM:613320"} ! spondylometa is_a: MONDO:0019694 {source="Orphanet:401979"} ! spondylodysplastic dysplasia is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia intersection_of: MONDO:0019694 ! spondylodysplastic dysplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29679 ! PAM16 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29679 {source="MONDO:mim2gene_medgen"} ! PAM16 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29679 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29679 {source="OMIM:613320"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -302198,7 +300747,6 @@ is_a: MONDO:0020560 {source="DC-OMIM:613325"} ! atypical teratoid rhabdoid tumor intersection_of: MONDO:0016473 ! familial rhabdoid tumor intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11100 ! SMARCA4 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013224 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11100 {source="MONDO:mim2gene_medgen"} ! SMARCA4 [Term] id: MONDO:0013225 @@ -302235,11 +300783,11 @@ xref: UMLS:C2750069 {source="MEDGEN:412871", source="MONDO:equivalentTo", source is_a: MONDO:0006536 {source="DC-OMIM:613327", source="DOID:0111138", source="MONDO:Redundant", source="OMIM:613327"} ! congenital generalized lipodystrophy is_a: MONDO:0020087 {source="MONDO:Entailed", source="Orphanet:228429"} ! hereditary lipodystrophy intersection_of: MONDO:0006536 ! congenital generalized lipodystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9688 ! CAVIN1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9688 relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus relationship: excluded_subClassOf MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9688 {source="MONDO:mim2gene_medgen"} ! CAVIN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9688 {source="OMIM:613327"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI @@ -302269,6 +300817,7 @@ is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune sy is_a: MONDO:0015131 {source="https://orcid.org/0000-0001-7941-2961"} ! combined immunodeficiency is_a: MONDO:0015160 {source="Orphanet:221139"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:221139", source="Orphanet:221139/inferred"} ! disorder of development or morphogenesis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30767 {source="OMIM:613328"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -302305,7 +300854,6 @@ is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein dis is_a: MONDO:0002243 ! hemorrhagic disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013227 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8583 {source="MONDO:mim2gene_medgen"} ! SERPINE1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -302327,7 +300875,7 @@ xref: OMIM:613330 {source="Orphanet:228387/e", source="MONDO:equivalentTo", sour xref: Orphanet:228387 {source="MONDO:equivalentTo", source="OMIM:613330"} xref: UMLS:C2750066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412869"} is_a: MONDO:0016761 {source="Orphanet:228387"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/951 {source="MONDO:mim2gene_medgen"} ! NKX3-2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/951 {source="OMIM:613330"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -302398,7 +300946,6 @@ xref: UMLS:C2750063 {source="MEDGEN:442375", source="MONDO:equivalentTo", source is_a: MONDO:0018998 {source="DC-OMIM:613341", source="DOID:0110188", source="MESH:C567636", source="MONDO:Redundant", source="OMIM:613341"} ! Leber congenital amaurosis intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6685 ! LRAT -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6685 {source="MONDO:mim2gene_medgen"} ! LRAT property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10883/leber-congenital-amaurosis-14" xsd:anyURI {source="GARD:0010883"} @@ -302466,7 +301013,6 @@ xref: Orphanet:681 {source="OMIM:613345"} xref: UMLS:C2750061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413748"} is_a: MONDO:0008223 {source="MESH:C567635", source="Orphanet:681/btnt"} ! hypokalemic periodic paralysis is_a: MONDO:0800468 {source="PMID:32849172", source="https://clinicalgenome.org/affiliation/40060/"} ! SCN4A-related channelopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10591 {source="MONDO:mim2gene_medgen"} ! SCN4A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI [Term] @@ -302489,7 +301035,6 @@ xref: Orphanet:1333 {source="OMIM:613347"} xref: UMLS:C3150546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461896"} is_a: MONDO:0020573 {source="OMIM:613347"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0015278 {source="MONDO:Redundant", source="Orphanet:1333/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial pancreatic carcinoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1101 {source="MONDO:mim2gene_medgen", source="OMIM:613347"} ! BRCA2 relationship: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -302513,7 +301058,6 @@ xref: UMLS:C3150547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020573 {source="OMIM:613348"} ! inherited disease susceptibility relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0015278 {source="MONDO:Redundant", source="Orphanet:1333/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial pancreatic carcinoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26144 {source="MONDO:mim2gene_medgen", source="OMIM:613348"} ! PALB2 relationship: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm [Term] @@ -302527,7 +301071,6 @@ xref: OMIM:613353 {source="MONDO:equivalentTo"} xref: UMLS:C3150596 {source="MEDGEN:461946", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:613353"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0007275 {source="https://orcid.org/0000-0001-5208-3432"} ! carpal tunnel syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29427 {source="MONDO:mim2gene_medgen"} ! SH3TC2 [Term] id: MONDO:0013238 @@ -302609,7 +301152,6 @@ xref: UMLS:C3150617 {source="MEDGEN:461967", source="MONDO:equivalentTo", source is_a: MONDO:0018911 {source="DC-OMIM:613370", source="DOID:0111108", source="MONDO:Redundant"} ! maturity-onset diabetes of the young intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6081 ! INS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6081 {source="MONDO:mim2gene_medgen"} ! INS [Term] id: MONDO:0013241 @@ -302657,8 +301199,8 @@ xref: SCTID:609578001 {source="MONDO:equivalentTo"} xref: UMLS:C3150618 {source="MEDGEN:461968", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018911 {source="DC-OMIM:613375", source="DOID:0111109", source="MONDO:Redundant"} ! maturity-onset diabetes of the young intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1057 ! BLK -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1057 {source="MONDO:mim2gene_medgen"} ! BLK +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1057 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1057 {source="OMIM:613375"} [Term] id: MONDO:0013243 @@ -302682,8 +301224,8 @@ xref: UMLS:C3150619 {source="MEDGEN:461969", source="MONDO:equivalentTo", source is_a: MONDO:0015352 {source="Orphanet:139525/btnt"} ! distal hereditary motor neuropathy type 2 is_a: MONDO:0018894 {source="DC-OMIM:613376", source="MONDO:Redundant"} ! distal hereditary motor neuropathy intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5248 ! HSPB3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5248 {source="MONDO:mim2gene_medgen"} ! HSPB3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5248 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5248 {source="OMIM:613376"} [Term] id: MONDO:0013244 @@ -302705,8 +301247,8 @@ xref: Orphanet:93387 {source="OMIM:613382"} xref: UMLS:C3150644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461994"} is_a: MONDO:0019677 {source="MONDO:Redundant", source="Orphanet:93387/btnt"} ! brachydactyly type E intersection_of: MONDO:0019677 ! brachydactyly type E -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9607 ! PTHLH -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9607 {source="MONDO:mim2gene_medgen"} ! PTHLH +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9607 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9607 {source="OMIM:613382"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -302737,7 +301279,7 @@ relationship: excluded_subClassOf MONDO:0005020 {source="MONDO:Redundant", sourc relationship: excluded_subClassOf MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:228426", source="https://orcid.org/0000-0001-5208-3432"} ! respiratory system disorder relationship: excluded_subClassOf MONDO:0019126 {source="Orphanet:228426", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete intractable diarrhea of infancy relationship: excluded_subClassOf MONDO:0019787 {source="Orphanet:228426", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune enteropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13890 {source="MONDO:mim2gene_medgen"} ! ITCH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13890 {source="OMIM:613385"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10775/itch-e3-ubiquitin-ligase-deficiency" xsd:anyURI {source="GARD:0010775"} @@ -302778,7 +301320,6 @@ is_a: MONDO:0007600 {source="Orphanet:3337/btnt"} ! primary Fanconi syndrome is_a: MONDO:0100238 {source="MONDO:Redundant", source="OMIM:613388"} ! inherited Fanconi renotubular syndrome intersection_of: MONDO:0100238 ! inherited Fanconi renotubular syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11019 ! SLC34A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11019 {source="MONDO:mim2gene_medgen"} ! SLC34A1 [Term] id: MONDO:0013248 @@ -302808,7 +301349,6 @@ xref: UMLS:C3150653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019391 {source="DC-OMIM:613390", source="DOID:0111096", source="MONDO:Redundant", source="OMIM:613390"} ! Fanconi anemia intersection_of: MONDO:0019391 ! Fanconi anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9820 ! RAD51C -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9820 {source="MONDO:mim2gene_medgen"} ! RAD51C [Term] id: MONDO:0013249 @@ -302840,7 +301380,6 @@ xref: UMLS:C3150654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019588 {source="DC-OMIM:613391", source="DOID:0110529", source="MONDO:Redundant", source="OMIM:613391"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9679 ! PTPRQ -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9679 {source="MONDO:mim2gene_medgen"} ! PTPRQ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -302876,7 +301415,7 @@ xref: MEDGEN:462007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613393 {source="MONDO:equivalentTo"} xref: UMLS:C3150657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462007"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17935 {source="MONDO:mim2gene_medgen"} ! CD207 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17935 {source="OMIM:613393"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -302906,7 +301445,7 @@ xref: UMLS:C3150658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-6330-7526"} ! hereditary disease is_a: MONDO:0015161 {source="Orphanet:280558"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:280558", source="Orphanet:280558/inferred"} ! disorder of development or morphogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2736 {source="MONDO:mim2gene_medgen"} ! DDX11 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2736 {source="OMIM:613398"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6646" xsd:anyURI [Term] @@ -302934,7 +301473,6 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9820 ! RAD51C intersection_of: predisposes_towards MONDO:0003582 ! hereditary breast ovarian cancer syndrome relationship: excluded_subClassOf MONDO:0003582 {source="OMIM:613399", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary breast ovarian cancer syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9820 {source="MONDO:mim2gene_medgen"} ! RAD51C relationship: predisposes_towards MONDO:0003582 ! hereditary breast ovarian cancer syndrome [Term] @@ -302960,7 +301498,6 @@ xref: UMLS:C3150667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0001149 {source="https://orcid.org/0000-0001-6330-7526"} ! microcephaly is_a: MONDO:0100062 {source="DC-OMIM:613402", source="DOID:0080457", source="OMIM:613402"} ! developmental and epileptic encephalopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013254 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9154 {source="MONDO:mim2gene_medgen"} ! PNKP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1753" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10933/microcephaly-seizures-and-developmental-delay" xsd:anyURI {source="GARD:0010933"} @@ -302985,9 +301522,9 @@ xref: Orphanet:2697 {source="OMIM:613404"} xref: UMLS:C3150672 {source="MEDGEN:462022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017123 {source="DC-OMIM:613404", source="DOID:0111354", source="MONDO:Redundant", source="OMIM:613404", source="Orphanet:2697/btnt"} ! arthrogryposis-renal dysfunction-cholestasis syndrome intersection_of: MONDO:0017123 ! arthrogryposis-renal dysfunction-cholestasis syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20347 ! VIPAS39 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20347 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013255 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20347 {source="MONDO:mim2gene_medgen"} ! VIPAS39 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20347 {source="OMIM:613404"} [Term] id: MONDO:0013256 @@ -303023,7 +301560,7 @@ is_a: MONDO:0016913 {source="Orphanet:94065"} ! partial deletion of the long arm intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr15q24 ! 15q24 (Human) relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:94065", source="Orphanet:94065/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19353 {source="MONDO:mim2gene_medgen"} ! SIN3A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19353 {source="OMIM:613406"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -303058,9 +301595,9 @@ xref: Orphanet:106 {source="OMIM:613410"} xref: UMLS:C3150677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462027"} is_a: MONDO:0020836 {source="OMIM:613410"} ! autism, susceptiblity to intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20653 ! SLC9A9 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20653 intersection_of: predisposes_towards MONDO:0005260 ! autism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20653 {source="MONDO:mim2gene_medgen"} ! SLC9A9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20653 {source="OMIM:613410"} relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -303087,9 +301624,9 @@ xref: UMLS:C3150678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016293 {source="DC-OMIM:613411", source="DOID:0110713", source="OMIM:613411"} ! congenital stationary night blindness is_a: MONDO:0019152 {source="MONDO:Redundant", source="Orphanet:75382/btnt"} ! Oguchi disease intersection_of: MONDO:0019152 ! Oguchi disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10013 ! GRK1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10013 relationship: excluded_subClassOf MONDO:0004587 {source="DOID:0110713", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary night blindness -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10013 {source="MONDO:mim2gene_medgen"} ! GRK1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10013 {source="OMIM:613411"} [Term] id: MONDO:0013260 @@ -303128,7 +301665,6 @@ xref: OMIM:613424 {source="DOID:0110456", source="MONDO:equivalentTo"} xref: Orphanet:54260 {source="OMIM:613424"} xref: UMLS:C3150681 {source="MEDGEN:462031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018901 {source="DC-OMIM:613424", source="OMIM:613424"} ! left ventricular noncompaction -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/143 {source="MONDO:mim2gene_medgen"} ! ACTC1 [Term] id: MONDO:0013262 @@ -303154,7 +301690,6 @@ xref: OMIM:613426 {source="MONDO:equivalentTo", source="DOID:0110454"} xref: Orphanet:54260 {source="OMIM:613426"} xref: UMLS:C1834481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371831"} is_a: MONDO:0018901 {source="DC-OMIM:613426", source="OMIM:613426"} ! left ventricular noncompaction -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="MONDO:mim2gene_medgen"} ! MYH7 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12832/dilated-cardiomyopathy-1s" xsd:anyURI {source="GARD:0012832"} [Term] @@ -303178,9 +301713,9 @@ xref: UMLS:C3150691 {source="MEDGEN:462041", source="MONDO:equivalentTo", source is_a: MONDO:0019200 {source="DC-OMIM:613428", source="DOID:0110364", source="MONDO:Redundant", source="OMIM:613428"} ! retinitis pigmentosa is_a: MONDO:0800404 {source="https://clinicalgenome.org/affiliation/40072/"} ! PCARE-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34383 ! PCARE +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/34383 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34383 {source="MONDO:mim2gene_medgen"} ! PCARE +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/34383 {source="OMIM:613428"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -303207,7 +301742,6 @@ is_a: MONDO:0005144 {source="DOID:0060203", source="MONDO:Redundant", source="OM intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17142 ! OPTN relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013264 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17142 {source="MONDO:mim2gene_medgen"} ! OPTN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -303225,9 +301759,9 @@ xref: Orphanet:106 {source="OMIM:613436"} xref: UMLS:C3150693 {source="MEDGEN:462043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020836 {source="OMIM:613436"} ! autism, susceptiblity to intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14295 ! SHANK2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14295 intersection_of: predisposes_towards MONDO:0005260 ! autism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14295 {source="MONDO:mim2gene_medgen"} ! SHANK2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14295 {source="OMIM:613436"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -303262,7 +301796,6 @@ is_a: MONDO:0015802 {source="DC-OMIM:613443", source="DOID:0070050", source="MON intersection_of: MONDO:0015802 ! autosomal dominant non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6996 ! MEF2C relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6996 {source="MONDO:mim2gene_medgen"} ! MEF2C property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -303327,7 +301860,6 @@ xref: SCTID:725029001 {source="MONDO:equivalentTo"} xref: UMLS:C3150703 {source="MEDGEN:462053", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0016643 {source="DC-OMIM:613451", source="DOID:0081046", source="OMIM:613451", source="Orphanet:228390"} ! frontonasal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/450 {source="MONDO:mim2gene_medgen"} ! ALX4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12641/frontonasal-dysplasia-with-alopecia-and-genital-anomaly" xsd:anyURI {source="GARD:0012641"} @@ -303356,8 +301888,8 @@ xref: OMIM:613453 {source="DOID:0110536", source="MONDO:equivalentTo"} xref: UMLS:C3150704 {source="MEDGEN:462054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:613453", source="DOID:0110536", source="MONDO:Redundant", source="OMIM:613453"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8950 ! SERPINB6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8950 {source="MONDO:mim2gene_medgen"} ! SERPINB6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8950 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8950 {source="OMIM:613453"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -303376,7 +301908,7 @@ xref: Orphanet:3095 {source="OMIM:613454"} xref: UMLS:C3150705 {source="MEDGEN:462055", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017746 {source="Orphanet:3095/btnt"} ! atypical Rett syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3811 {source="MONDO:mim2gene_medgen"} ! FOXG1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3811 {source="OMIM:613454"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -303402,7 +301934,7 @@ xref: Orphanet:306542 {source="OMIM:613456", source="MONDO:equivalentTo"} xref: UMLS:C3150706 {source="MONDO:equivalentTo", source="MEDGEN:462056", source="MONDO:MEDGEN"} is_a: MONDO:0016643 {source="DC-OMIM:613456", source="DOID:0081047", source="OMIM:613456", source="Orphanet:306542"} ! frontonasal dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013271 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1494 {source="MONDO:mim2gene_medgen"} ! ALX1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1494 {source="OMIM:613456"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12640/frontonasal-dysplasia-severe-microphthalmia-severe-facial-clefting-syndrome" xsd:anyURI {source="GARD:0012640"} @@ -303494,7 +302026,6 @@ xref: MEDGEN:462065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613464 {source="MONDO:equivalentTo", source="DOID:0110398"} xref: UMLS:C3150715 {source="MEDGEN:462065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019200 {source="DC-OMIM:613464", source="DOID:0110398", source="MONDO:Redundant", source="OMIM:613464"} ! retinitis pigmentosa -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20087 {source="MONDO:mim2gene_medgen"} ! TTC8 [Term] id: MONDO:0013275 @@ -303518,7 +302049,7 @@ is_a: MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic is_a: MONDO:0006506 ! congenital nonspherocytic hemolytic anemia is_a: MONDO:0017688 {source="MONDO:Redundant", source="Orphanet:712", source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4458 {source="MONDO:mim2gene_medgen"} ! GPI +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4458 {source="OMIM:613470"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -303546,7 +302077,6 @@ xref: UMLS:C0748397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0007179 {source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:779", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6518 {source="MONDO:mim2gene_medgen"} ! LBR property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4697/reynolds-syndrome" xsd:anyURI {source="GARD:0004697"} [Term] @@ -303573,7 +302103,6 @@ is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000 is_a: MONDO:0100062 {source="DC-OMIM:613477", source="DOID:0080438", source="MONDO:Redundant", source="OMIM:613477"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11273 ! SPTAN1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11273 {source="MONDO:mim2gene_medgen"} ! SPTAN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -303598,7 +302127,6 @@ xref: UMLS:C4747646 {source="MEDGEN:1652857", source="MONDO:equivalentTo", sourc is_a: MONDO:0019313 {source="DOID:0070208", source="MONDO:Redundant", source="OMIM:613480", source="Orphanet:79452/btnt"} ! lymphatic malformation intersection_of: MONDO:0019313 ! lymphatic malformation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17494 ! GJC2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17494 {source="MONDO:mim2gene_medgen"} ! GJC2 [Term] id: MONDO:0013279 @@ -303625,7 +302153,6 @@ is_a: MONDO:0019171 {source="OMIM:613485", source="Orphanet:101016-prototype"} ! intersection_of: MONDO:0019171 ! familial long QT syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6266 ! KCNJ5 relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110654", source="OMIM:613485", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6266 {source="MONDO:mim2gene_medgen"} ! KCNJ5 [Term] id: MONDO:0013280 @@ -303658,7 +302185,6 @@ xref: UMLS:C0206634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005060 {source="DOID:5363", source="DOID:5709", source="EFO:0000613", source="MESH:D018208", source="MONDO:Redundant", source="NCIT:C27781"} ! liposarcoma is_a: MONDO:0020561 {source="Orphanet:99967/btnt"} ! myxoid/round cell liposarcoma relationship: disease_has_location UBERON:0001013 {source="EFO:0000784"} ! adipose tissue -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2726 {source="MONDO:mim2gene_medgen"} ! DDIT3 [Term] id: MONDO:0013281 @@ -303696,7 +302222,6 @@ is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenita is_a: MONDO:0017750 {source="Orphanet:263501"} ! defect in conserved oligomeric Golgi complex relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013281 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18620 {source="MONDO:mim2gene_medgen"} ! COG4 [Term] id: MONDO:0013282 @@ -303750,7 +302275,6 @@ is_a: MONDO:0005066 {source="Orphanet:60"} ! metabolic disease is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:60"} ! respiratory system disorder is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:60", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8941 {source="MONDO:mim2gene_medgen"} ! SERPINA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency" xsd:anyURI {source="GARD:0005784"} @@ -303773,7 +302297,7 @@ xref: Orphanet:1572 {source="OMIM:613493"} xref: UMLS:C3150738 {source="MEDGEN:462088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015517 {source="DC-OMIM:613493", source="DOID:0081146", source="OMIM:613493"} ! common variable immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013283 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1633 {source="MONDO:mim2gene_medgen"} ! CD19 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1633 {source="OMIM:613493"} [Term] id: MONDO:0013284 @@ -303795,7 +302319,7 @@ xref: Orphanet:1572 {source="OMIM:613494"} xref: UMLS:C3150739 {source="MONDO:equivalentTo", source="MEDGEN:462089", source="MONDO:MEDGEN"} is_a: MONDO:0015517 {source="DC-OMIM:613494", source="DOID:0081147", source="OMIM:613494"} ! common variable immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013284 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17755 {source="MONDO:mim2gene_medgen"} ! TNFRSF13C +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17755 {source="OMIM:613494"} [Term] id: MONDO:0013285 @@ -303819,9 +302343,9 @@ xref: Orphanet:1572 {source="OMIM:613495"} xref: UMLS:C3150740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462090"} is_a: MONDO:0015517 {source="DC-OMIM:613495", source="DOID:0081148", source="MONDO:Redundant", source="OMIM:613495"} ! common variable immunodeficiency intersection_of: MONDO:0015517 ! common variable immunodeficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7315 ! MS4A1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7315 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013285 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7315 {source="MONDO:mim2gene_medgen"} ! MS4A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7315 {source="OMIM:613495"} [Term] id: MONDO:0013286 @@ -303846,9 +302370,9 @@ xref: Orphanet:1572 {source="OMIM:613496"} xref: UMLS:C3150741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462091"} is_a: MONDO:0015517 {source="DC-OMIM:613496", source="DOID:0081149", source="MONDO:Redundant", source="OMIM:613496"} ! common variable immunodeficiency intersection_of: MONDO:0015517 ! common variable immunodeficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1701 ! CD81 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1701 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013286 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1701 {source="MONDO:mim2gene_medgen"} ! CD81 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1701 {source="OMIM:613496"} [Term] id: MONDO:0013287 @@ -303876,9 +302400,9 @@ is_a: MONDO:0002211 {source="DOID:0060024"} ! B cell deficiency is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:613500"} ! agammaglobulinemia intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5870 ! IGLL1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5870 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013287 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5870 {source="MONDO:mim2gene_medgen"} ! IGLL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5870 {source="OMIM:613500"} [Term] id: MONDO:0013288 @@ -303903,9 +302427,9 @@ xref: UMLS:C3150751 {source="MEDGEN:462101", source="MONDO:equivalentTo", source is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:613501"} ! agammaglobulinemia intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1698 ! CD79A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1698 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013288 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1698 {source="MONDO:mim2gene_medgen"} ! CD79A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1698 {source="OMIM:613501"} [Term] id: MONDO:0013289 @@ -303930,9 +302454,9 @@ xref: UMLS:C3150752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:613502"} ! agammaglobulinemia intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14211 ! BLNK +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14211 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013289 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14211 {source="MONDO:mim2gene_medgen"} ! BLNK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14211 {source="OMIM:613502"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -303958,8 +302482,8 @@ xref: UMLS:C3150753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:613506"} ! agammaglobulinemia intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19027 ! LRRC8A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19027 {source="MONDO:mim2gene_medgen"} ! LRRC8A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19027 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19027 {source="OMIM:613506"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -303998,7 +302522,6 @@ xref: SCTID:717821004 {source="MONDO:equivalentTo"} xref: UMLS:C3150754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462104"} is_a: MONDO:0002412 {source="DC-OMIM:613507", source="DOID:0050579", source="DOID:0050579/inferred", source="OMIM:613507", source="Orphanet:263297", source="PMID:33340416"} ! disorder of glycogen metabolism is_a: MONDO:0100314 {source="https://clinicalgenome.org/affiliation/40097/"} ! GYG1-related disorder of glycogen metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4699 {source="MONDO:mim2gene_medgen"} ! GYG1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6130" xsd:anyURI @@ -304057,8 +302580,8 @@ xref: UMLS:C3150757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000062 {source="DC-OMIM:613517", source="DOID:0060835", source="MONDO:Redundant", source="OMIM:613517"} ! isolated microphthalmia is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/39433 ! PRSS56 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/39433 {source="MONDO:mim2gene_medgen"} ! PRSS56 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/39433 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/39433 {source="OMIM:613517"} [Term] id: MONDO:0013294 @@ -304256,7 +302779,6 @@ xref: UMLS:C1960539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019852 {source="Orphanet:91"} ! inherited primary ovarian failure is_a: MONDO:0024575 {source="Orphanet:91"} ! pregnancy disorder relationship: excluded_subClassOf MONDO:0957024 {source="Orphanet:91", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary 46,XX disorder of sex development -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2594 {source="MONDO:mim2gene_medgen"} ! CYP19A1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/365/aromatase-deficiency" xsd:anyURI {source="GARD:0000365"} [Term] @@ -304282,7 +302804,6 @@ intersection_of: MONDO:0019005 ! nephronophthisis intersection_of: MONDO:0019394 ! Senior-Boichis syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28396 ! TMEM67 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613550"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28396 {source="MONDO:mim2gene_medgen"} ! TMEM67 [Term] id: MONDO:0013303 @@ -304299,9 +302820,9 @@ xref: MEDGEN:462147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613551 {source="MONDO:equivalentTo"} xref: UMLS:C3150797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462147"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18187 ! SIAE +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18187 intersection_of: predisposes_towards MONDO:0007179 ! autoimmune disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18187 {source="MONDO:mim2gene_medgen"} ! SIAE +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18187 {source="OMIM:613551"} [Term] id: MONDO:0013304 @@ -304342,7 +302863,6 @@ xref: Orphanet:903 {source="OMIM:613554"} xref: SCTID:128107007 {source="MONDO:equivalentTo"} xref: UMLS:C1264040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224736"} is_a: MONDO:0019565 {source="DC-OMIM:613554", source="DOID:0060574", source="Orphanet:166081"} ! hereditary von Willebrand disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12726 {source="MONDO:mim2gene_medgen"} ! VWF property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -304399,7 +302919,6 @@ xref: SCTID:763204003 {source="MONDO:equivalentTo"} xref: UMLS:C3150801 {source="MEDGEN:462151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DC-OMIM:613559", source="DOID:0111487", source="MONDO:Redundant", source="OMIM:613559"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26784 {source="MONDO:mim2gene_medgen"} ! MTRFR [Term] id: MONDO:0013307 @@ -304424,8 +302943,8 @@ xref: Orphanet:2598 {source="OMIM:613561"} xref: UMLS:C3150802 {source="MEDGEN:462152", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000863 {source="DOID:0111186", source="MONDO:Redundant", source="OMIM:613561", source="Orphanet:2598/btnt"} ! myopathy, lactic acidosis, and sideroblastic anemia intersection_of: MONDO:0000863 ! myopathy, lactic acidosis, and sideroblastic anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24249 ! YARS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24249 {source="MONDO:mim2gene_medgen"} ! YARS2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24249 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24249 {source="OMIM:613561"} [Term] id: MONDO:0013308 @@ -304457,7 +302976,6 @@ xref: Orphanet:363972 {source="OMIM:613563", source="MONDO:equivalentTo"} xref: UMLS:C3150803 {source="MEDGEN:462153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021060 {source="https://www.clinicalgenome.org/affiliation/40021/"} ! RASopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013308 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1541 {source="MONDO:mim2gene_medgen"} ! CBL [Term] id: MONDO:0013309 @@ -304511,7 +303029,6 @@ is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproduct is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0018479 {source="Orphanet:95699"} ! congenital adrenal hyperplasia relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9208 {source="MONDO:mim2gene_medgen"} ! POR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency" xsd:anyURI {source="GARD:0012664"} @@ -304561,7 +303078,6 @@ xref: MEDGEN:462158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613575 {source="DOID:0110370", source="MONDO:equivalentTo"} xref: UMLS:C3150808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462158"} is_a: MONDO:0019200 {source="DC-OMIM:613575", source="DOID:0110370", source="MONDO:Redundant", source="OMIM:613575"} ! retinitis pigmentosa -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13210 {source="MONDO:mim2gene_medgen"} ! ARL6 [Term] id: MONDO:0013313 @@ -304609,7 +303125,6 @@ is_a: MONDO:0700241 {source="https://clinicalgenome.org/working-groups/clinical- intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 ! IMPG2 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 {source="MONDO:mim2gene_medgen"} ! IMPG2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -304633,8 +303148,8 @@ xref: Orphanet:791 {source="OMIM:613582"} xref: UMLS:C3150821 {source="MEDGEN:462171", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019200 {source="DC-OMIM:613582", source="DOID:0110407", source="MONDO:Redundant", source="OMIM:613582"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8789 ! PDE6G -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8789 {source="MONDO:mim2gene_medgen"} ! PDE6G +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8789 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8789 {source="OMIM:613582"} [Term] id: MONDO:0013316 @@ -304663,7 +303178,6 @@ is_a: MONDO:0003004 {source="DOID:0050578", source="OMIM:613587"} ! macular dege is_a: MONDO:0020242 {source="Orphanet:247834"} ! hereditary macular dystrophy relationship: disease_has_feature HP:0000572 ! Visual loss relationship: disease_has_feature HP:0000608 ! Macular degeneration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15946 {source="MONDO:mim2gene_medgen"} ! RP1L1 [Term] id: MONDO:0013317 @@ -304772,6 +303286,7 @@ xref: Orphanet:86814 {source="OMIM:613608"} xref: UMLS:C3150860 {source="MONDO:equivalentTo", source="MEDGEN:462210", source="MONDO:MEDGEN"} is_a: MONDO:0000160 {source="DC-OMIM:613608", source="DOID:0111695", source="OMIM:613608"} ! epilepsy, familial adult myoclonic relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30550 {source="OMIM:613608"} [Term] id: MONDO:0013323 @@ -304799,7 +303314,6 @@ intersection_of: MONDO:0009032 ! cranioectodermal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29250 ! WDR35 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013323 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613610"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29250 {source="MONDO:mim2gene_medgen"} ! WDR35 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7166" xsd:anyURI [Term] @@ -304822,7 +303336,7 @@ xref: Orphanet:99141 {source="MONDO:equivalentTo"} xref: UMLS:C3150875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462225"} is_a: MONDO:0002013 {source="Orphanet:99141"} ! lymphangioma is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9647 {source="MONDO:mim2gene_medgen"} ! PTPN14 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9647 {source="OMIM:613611"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI [Term] @@ -304860,7 +303374,7 @@ is_a: MONDO:0005501 {source="DC-OMIM:613612", source="DOID:0070261", source="OMI is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0017750 {source="Orphanet:263487"} ! defect in conserved oligomeric Golgi complex relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14857 {source="MONDO:mim2gene_medgen"} ! COG5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14857 {source="OMIM:613612"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1173/cdg-syndrome-type-3" xsd:anyURI {source="GARD:0001173"} [Term] @@ -304885,7 +303399,6 @@ is_a: MONDO:0017842 {source="DC-OMIM:613615", source="MONDO:Redundant", source=" intersection_of: MONDO:0017842 ! Senior-Loken syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10671 ! SDCCAG8 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613615"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10671 {source="MONDO:mim2gene_medgen"} ! SDCCAG8 [Term] id: MONDO:0013327 @@ -304915,8 +303428,8 @@ xref: SCTID:734990008 {source="MONDO:equivalentTo"} xref: UMLS:C3150878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462228"} is_a: MONDO:0002474 {source="DC-OMIM:613616", source="DOID:0111672", source="MONDO:Redundant", source="NCIT:C123214", source="OMIM:613616", source="Orphanet:93600"} ! primary hyperoxaluria intersection_of: MONDO:0002474 ! primary hyperoxaluria -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25155 ! HOGA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25155 {source="MONDO:mim2gene_medgen"} ! HOGA1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25155 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25155 {source="OMIM:613616"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10738/primary-hyperoxaluria-type-3" xsd:anyURI {source="GARD:0010738"} [Term] @@ -304939,8 +303452,8 @@ xref: OMIM:613617 {source="MONDO:equivalentTo", source="DOID:0110362"} xref: UMLS:C3150879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462229"} is_a: MONDO:0019200 {source="DC-OMIM:613617", source="DOID:0110362", source="MONDO:Redundant", source="OMIM:613617"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26498 ! ZNF513 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26498 {source="MONDO:mim2gene_medgen"} ! ZNF513 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26498 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26498 {source="OMIM:613617"} [Term] id: MONDO:0013329 @@ -304998,9 +303511,9 @@ xref: Orphanet:35909 {source="OMIM:613625"} xref: UMLS:C3150889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462239"} is_a: MONDO:0018175 {source="DC-OMIM:613625", source="MONDO:Redundant"} ! combined deficiency of factor V and factor VIII intersection_of: MONDO:0018175 ! combined deficiency of factor V and factor VIII -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18451 ! MCFD2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18451 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013331 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18451 {source="MONDO:mim2gene_medgen"} ! MCFD2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18451 {source="OMIM:613625"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -305052,7 +303565,6 @@ xref: Orphanet:465824 {source="MONDO:equivalentTo"} xref: UMLS:C3150891 {source="MEDGEN:462241", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation is_a: MONDO:0021147 {source="Orphanet:465824", source="Orphanet:465824/inferred"} ! disorder of development or morphogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1974 {source="MONDO:mim2gene_medgen"} ! CHUK [Term] id: MONDO:0013335 @@ -305121,7 +303633,7 @@ xref: Orphanet:36386 {source="OMIM:613640"} xref: UMLS:C3150896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462246"} is_a: MONDO:0018213 {source="DOID:0070157", source="Orphanet:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013337 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11278 {source="MONDO:mim2gene_medgen"} ! SPTLC2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11278 {source="OMIM:613640"} [Term] id: MONDO:0013338 @@ -305156,7 +303668,6 @@ is_a: MONDO:0015626 {source="DOID:0110204/inferred", source="MONDO:Redundant", s is_a: MONDO:0017058 {source="Orphanet:254334"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6215 ! KARS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6215 {source="MONDO:mim2gene_medgen"} ! KARS1 [Term] id: MONDO:0013339 @@ -305178,7 +303689,6 @@ xref: MEDGEN:462248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613642 {source="DOID:0110435", source="MONDO:equivalentTo"} xref: UMLS:C3150898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462248"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613642"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10680 {source="MONDO:mim2gene_medgen"} ! SDHA [Term] id: MONDO:0013340 @@ -305199,7 +303709,6 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12513 ! UCHL1 intersection_of: predisposes_towards MONDO:0005180 ! Parkinson disease relationship: excluded_subClassOf MONDO:0017279 {source="Orphanet:2828/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! young-onset Parkinson disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12513 {source="MONDO:mim2gene_medgen"} ! UCHL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -305232,9 +303741,9 @@ xref: UMLS:C4749905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002012 {source="DC-OMIM:613646", source="DOID:0060741", source="MONDO:Entailed", source="MONDO:Redundant"} ! methylmalonic acidemia is_a: MONDO:0019220 {source="Orphanet:280183"} ! inborn disorder of cobalamin metabolism and transport intersection_of: MONDO:0002012 ! methylmalonic acidemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16692 ! CD320 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16692 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013341 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16692 {source="MONDO:mim2gene_medgen"} ! CD320 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16692 {source="OMIM:613646"} [Term] id: MONDO:0013342 @@ -305264,8 +303773,8 @@ xref: UMLS:C3150901 {source="MEDGEN:462251", source="MONDO:equivalentTo", source is_a: MONDO:0002561 {source="Orphanet:306511"} ! lysosomal storage disease is_a: MONDO:0019064 {source="DOID:0110800", source="MONDO:Redundant", source="OMIM:613647", source="Orphanet:306511/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22197 ! AP5Z1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22197 {source="MONDO:mim2gene_medgen"} ! AP5Z1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22197 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22197 {source="OMIM:613647"} [Term] id: MONDO:0013343 @@ -305308,9 +303817,9 @@ xref: OMIM:613656 {source="MONDO:equivalentTo"} xref: UMLS:C4225479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:900808"} is_a: MONDO:0100246 {source="DC-OMIM:613656", source="MONDO:Redundant", source="OMIM:613656", source="OMIM:613656/inferred"} ! migraine with or without aura, susceptibility to intersection_of: MONDO:0100246 ! migraine with or without aura, susceptibility to -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19439 ! KCNK18 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19439 intersection_of: predisposes_towards MONDO:0005277 ! migraine disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19439 {source="MONDO:mim2gene_medgen"} ! KCNK18 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19439 {source="OMIM:613656"} [Term] id: MONDO:0013345 @@ -305332,8 +303841,8 @@ xref: Orphanet:79315 {source="OMIM:613657"} xref: UMLS:C3150909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462259"} is_a: MONDO:0010924 {source="DOID:0111352", source="MONDO:Redundant", source="OMIM:613657", source="Orphanet:79315/btnt"} ! D-2-hydroxyglutaric aciduria intersection_of: MONDO:0010924 ! D-2-hydroxyglutaric aciduria -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5383 ! IDH2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5383 {source="MONDO:mim2gene_medgen"} ! IDH2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5383 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5383 {source="OMIM:613657"} [Term] id: MONDO:0013346 @@ -305372,7 +303881,6 @@ is_a: MONDO:0015993 {source="DC-OMIM:613660", source="DOID:0111021", source="MON is_a: MONDO:0019200 {source="DC-OMIM:613660", source="OMIM:613660"} ! retinitis pigmentosa intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14550 ! CDHR1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14550 {source="MONDO:mim2gene_medgen"} ! CDHR1 [Term] id: MONDO:0013349 @@ -305408,7 +303916,7 @@ is_a: MONDO:0015286 {source="MONDO:0013349/inferred", source="MONDO:Redundant", is_a: MONDO:0017740 {source="Orphanet:280071"} ! disorder of protein N-glycosylation relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013349 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32456 {source="MONDO:mim2gene_medgen"} ! ALG11 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32456 {source="OMIM:613661"} [Term] id: MONDO:0013350 @@ -305426,7 +303934,6 @@ xref: OMIM:613662 {source="DOID:0080123", source="MONDO:equivalentTo"} xref: Orphanet:298 {source="OMIM:613662", source="MONDO:relatedTo"} xref: UMLS:C3150914 {source="MEDGEN:462264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018158 {source="DC-OMIM:613662", source="DOID:0080123", source="OMIM:613662"} ! mitochondrial DNA depletion syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9179 {source="MONDO:mim2gene_medgen"} ! POLG [Term] id: MONDO:0013351 @@ -305449,7 +303956,7 @@ xref: OMIM:613668 {source="Orphanet:402364/e", source="MONDO:equivalentTo", sour xref: Orphanet:402364 {source="MONDO:equivalentTo", source="OMIM:613668"} xref: UMLS:C3150921 {source="MEDGEN:462271", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002602 {source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2375 {source="MONDO:mim2gene_medgen"} ! MED17 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2375 {source="OMIM:613668"} [Term] id: MONDO:0013352 @@ -305476,7 +303983,7 @@ xref: Orphanet:391372 {source="MONDO:equivalentTo", source="OMIM:613670"} xref: UMLS:C4013764 {source="MEDGEN:862201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000508 {source="DOID:0111331", source="Orphanet:391372", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013352 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3823 {source="MONDO:mim2gene_medgen"} ! FOXP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3823 {source="OMIM:613670"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome" xsd:anyURI {source="GARD:0012501"} @@ -305497,7 +304004,7 @@ xref: OMIM:613671 {source="MONDO:equivalentTo"} xref: Orphanet:562559 {source="MONDO:equivalentTo"} xref: UMLS:C3150924 {source="MEDGEN:462274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29256 {source="MONDO:mim2gene_medgen"} ! SOBP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29256 {source="OMIM:613671"} [Term] id: MONDO:0013354 @@ -305529,8 +304036,8 @@ is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0017845 {source="DOID:0050943", source="MONDO:Redundant", source="OMIM:613672", source="Orphanet:254343/inferred"} ! spastic ataxia is_a: MONDO:0017847 {source="MONDO:Redundant", source="Orphanet:254343"} ! autosomal recessive spastic ataxia intersection_of: MONDO:0017847 ! autosomal recessive spastic ataxia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25532 ! MTPAP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25532 {source="MONDO:mim2gene_medgen"} ! MTPAP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25532 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25532 {source="OMIM:613672"} [Term] id: MONDO:0013355 @@ -305564,7 +304071,6 @@ xref: SCTID:719453009 {source="MONDO:equivalentTo"} xref: UMLS:C3150926 {source="MONDO:equivalentTo", source="MEDGEN:462276", source="MONDO:MEDGEN"} is_a: MONDO:0019403 {source="DC-OMIM:613673", source="DOID:0111400", source="OMIM:613673", source="Orphanet:293825"} ! congenital dyserythropoietic anemia relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6345 {source="MONDO:mim2gene_medgen"} ! KLF1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -305587,8 +304093,8 @@ xref: Orphanet:289365 {source="OMIM:613674"} xref: UMLS:C3150927 {source="MEDGEN:462277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:613674", source="Orphanet:289365/btnt"} ! familial vesicoureteral reflux intersection_of: MONDO:0017329 ! familial vesicoureteral reflux -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18122 ! SOX17 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18122 {source="MONDO:mim2gene_medgen"} ! SOX17 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18122 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18122 {source="OMIM:613674"} [Term] id: MONDO:0013357 @@ -305660,7 +304166,6 @@ is_a: MONDO:0700054 {source="https://clinicalgenome.org/affiliation/40060"} ! mi intersection_of: MONDO:0019342 ! Seckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17272 ! CENPJ relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613676"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17272 {source="MONDO:mim2gene_medgen"} ! CENPJ [Term] id: MONDO:0013359 @@ -305688,7 +304193,6 @@ xref: Orphanet:251274 {source="OMIM:613677", source="MONDO:equivalentTo"} xref: SCTID:703234002 {source="MONDO:equivalentTo"} xref: UMLS:C3838758 {source="MEDGEN:824604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016525 {source="OMIM:613677", source="Orphanet:251274"} ! familial hyperaldosteronism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6266 {source="MONDO:mim2gene_medgen"} ! KCNJ5 [Term] id: MONDO:0013360 @@ -305754,7 +304258,6 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013361 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613679", source="Orphanet:325"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3535 {source="MONDO:mim2gene_medgen"} ! F2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2235/factor-2-deficiency" xsd:anyURI {source="GARD:0002235"} @@ -305781,7 +304284,7 @@ xref: Orphanet:363444 {source="MONDO:equivalentTo", source="OMIM:613680"} xref: UMLS:C3150939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462289"} is_a: MONDO:0015159 {source="Orphanet:363444"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:363444", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28369 {source="MONDO:mim2gene_medgen"} ! THOC6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28369 {source="OMIM:613680"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -305842,7 +304345,6 @@ intersection_of: MONDO:0019188 ! Rubinstein-Taybi syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3373 ! EP300 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013364 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613684"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3373 {source="MONDO:mim2gene_medgen"} ! EP300 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -305890,9 +304392,9 @@ xref: UMLS:C3150942 {source="MEDGEN:462292", source="MONDO:equivalentTo", source is_a: MONDO:0000359 {source="MONDO:Redundant", source="OMIM:613686"} ! spondylocostal dysostosis is_a: MONDO:0010180 {source="MONDO:Redundant", source="OMIM:613686", source="Orphanet:2311/btnt"} ! autosomal recessive spondylocostal dysostosis intersection_of: MONDO:0010180 ! autosomal recessive spondylocostal dysostosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15977 ! HES7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15977 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15977 {source="MONDO:mim2gene_medgen"} ! HES7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15977 {source="OMIM:613686"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -305923,7 +304425,7 @@ xref: Orphanet:768 {source="OMIM:613688"} xref: UMLS:C3150943 {source="MEDGEN:462293", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019171 {source="OMIM:613688", source="Orphanet:101016-prototype"} ! familial long QT syndrome relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110645", source="MESH:C563614", source="NCIT:C137957", source="OMIM:613688", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6251 {source="https://orcid.org/0000-0003-0148-9787"} ! KCNH2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31088 {source="OMIM:613688"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6236" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3285/long-qt-syndrome-2" xsd:anyURI {source="GARD:0003285"} @@ -305981,7 +304483,6 @@ is_a: MONDO:0005045 {source="DC-OMIM:613690", source="DOID:0110313", source="MON is_a: MONDO:0024573 {source="DOID:0110313", source="MONDO:OMIM", source="OMIM:613690"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11947 ! TNNI3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11947 {source="MONDO:mim2gene_medgen"} ! TNNI3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -306011,7 +304512,6 @@ is_a: MONDO:0019171 {source="OMIM:613693", source="Orphanet:101016-prototype"} ! intersection_of: MONDO:0019171 ! familial long QT syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6242 ! KCNE2 relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110648", source="MESH:C566333", source="OMIM:613693", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6242 {source="MONDO:mim2gene_medgen"} ! KCNE2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10434/long-qt-syndrome-6" xsd:anyURI {source="GARD:0010434"} [Term] @@ -306036,7 +304536,6 @@ xref: OMIM:613694 {source="MONDO:equivalentTo", source="DOID:0110455"} xref: Orphanet:154 {source="OMIM:613694"} xref: UMLS:C3160720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463620"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613694"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9508 {source="MONDO:mim2gene_medgen"} ! PSEN1 [Term] id: MONDO:0013372 @@ -306070,7 +304569,6 @@ intersection_of: MONDO:0019171 ! familial long QT syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6240 ! KCNE1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013372 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110647", source="MESH:C566766", source="OMIM:613695", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6240 {source="MONDO:mim2gene_medgen"} ! KCNE1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10433/long-qt-syndrome-5" xsd:anyURI {source="GARD:0010433"} [Term] @@ -306094,7 +304592,6 @@ xref: MESH:C566856 {source="MONDO:equivalentTo"} xref: OMIM:613697 {source="DOID:0110427", source="MONDO:equivalentTo"} xref: UMLS:C3150958 {source="MEDGEN:462308", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613697"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9509 {source="MONDO:mim2gene_medgen"} ! PSEN2 [Term] id: MONDO:0013374 @@ -306124,7 +304621,6 @@ xref: OMIM:613702 {source="MONDO:equivalentTo"} xref: Orphanet:2345 {source="OMIM:613702"} xref: UMLS:C3150967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462317"} is_a: MONDO:0001029 {source="DOID:0080591", source="MONDO:Redundant", source="OMIM:613702", source="OMIM:613702/inferred"} ! Klippel-Feil syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4218 {source="MONDO:mim2gene_medgen"} ! GDF3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -306169,7 +304665,6 @@ is_a: MONDO:0000062 {source="DC-OMIM:613704", source="DOID:0060838", source="MON is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4218 ! GDF3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4218 {source="MONDO:mim2gene_medgen"} ! GDF3 [Term] id: MONDO:0013378 @@ -306194,9 +304689,9 @@ xref: UMLS:C1866070 {source="MEDGEN:355621", source="MONDO:equivalentTo", source is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:613705"} ! orofacial cleft is_a: MONDO:0016044 {source="Orphanet:199306/btnt"} ! cleft lip/palate intersection_of: MONDO:0000358 ! orofacial cleft -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12502 ! SUMO1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12502 relationship: has_characteristic MONDO:0021128 ! has an isolated presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12502 {source="MONDO:mim2gene_medgen"} ! SUMO1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12502 {source="OMIM:613705"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -306221,7 +304716,6 @@ xref: UMLS:C3150970 {source="MONDO:equivalentTo", source="MEDGEN:462320", source is_a: MONDO:0018997 {source="DC-OMIM:613706", source="DOID:0060585", source="MONDO:Redundant", source="OMIM:613706"} ! Noonan syndrome intersection_of: MONDO:0018997 ! Noonan syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 ! BRAF -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 {source="MONDO:mim2gene_medgen"} ! BRAF [Term] id: MONDO:0013380 @@ -306246,7 +304740,6 @@ is_a: MONDO:0007893 {source="DOID:0080550", source="MONDO:Redundant", source="OM intersection_of: MONDO:0007893 ! Noonan syndrome with multiple lentigines intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 ! BRAF relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613707"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 {source="MONDO:mim2gene_medgen"} ! BRAF [Term] id: MONDO:0013381 @@ -306268,7 +304761,6 @@ xref: Orphanet:36386 {source="OMIM:613708"} xref: UMLS:C3150972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462322"} is_a: MONDO:0018213 {source="DOID:0070156", source="Orphanet:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013381 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11231 {source="MONDO:mim2gene_medgen"} ! ATL1 [Term] id: MONDO:0013382 @@ -306293,7 +304785,6 @@ xref: Orphanet:217396 {source="OMIM:613710", source="MONDO:equivalentTo"} xref: UMLS:C3150973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462323"} is_a: MONDO:0000152 {source="DC-OMIM:613710", source="OMIM:613710"} ! thiamine-responsive dysfunction syndrome is_a: MONDO:0020127 {source="Orphanet:217396"} ! hereditary peripheral neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14409 {source="MONDO:mim2gene_medgen"} ! SLC25A19 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -306315,8 +304806,8 @@ xref: Orphanet:388 {source="OMIM:613711"} xref: UMLS:C3150974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462324"} is_a: MONDO:0100179 {source="https://orcid.org/0000-0001-5208-3432"} ! Hirschsprung disease, susceptibility to intersection_of: MONDO:0100179 ! Hirschsprung disease, susceptibility to -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4232 ! GDNF -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4232 {source="MONDO:mim2gene_medgen"} ! GDNF +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4232 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4232 {source="OMIM:613711"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2699/hirschsprung-disease-type-3" xsd:anyURI {source="GARD:0002699"} [Term] @@ -306337,7 +304828,6 @@ xref: UMLS:C3150975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0100179 {source="https://orcid.org/0000-0001-5208-3432"} ! Hirschsprung disease, susceptibility to intersection_of: MONDO:0100179 ! Hirschsprung disease, susceptibility to intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3178 ! EDN3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3178 {source="MONDO:mim2gene_medgen"} ! EDN3 [Term] id: MONDO:0013385 @@ -306360,9 +304850,9 @@ xref: Orphanet:861 {source="OMIM:613717"} xref: UMLS:C3150983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462333"} is_a: MONDO:0002457 {source="DOID:0080790", source="MONDO:Redundant", source="OMIM:613717"} ! Treacher-Collins syndrome intersection_of: MONDO:0002457 ! Treacher-Collins syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20422 ! POLR1D +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20422 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613717"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20422 {source="MONDO:mim2gene_medgen"} ! POLR1D +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20422 {source="OMIM:613717"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -306389,8 +304879,8 @@ xref: Orphanet:90636 {source="OMIM:613718"} xref: UMLS:C2239351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:453237"} is_a: MONDO:0019588 {source="DC-OMIM:613718", source="DOID:0110523", source="MONDO:Redundant", source="OMIM:613718"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27375 ! MSRB3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27375 {source="MONDO:mim2gene_medgen"} ! MSRB3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27375 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27375 {source="OMIM:613718"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -306420,7 +304910,6 @@ xref: OMIM:613720 {source="Orphanet:439218", source="MONDO:equivalentTo", source xref: Orphanet:439218 {source="MONDO:equivalentTo"} xref: UMLS:C3150986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462336"} is_a: MONDO:0100062 {source="DC-OMIM:613720", source="DOID:0080462", source="OMIM:613720"} ! developmental and epileptic encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6296 {source="MONDO:mim2gene_medgen"} ! KCNQ2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -306445,7 +304934,6 @@ xref: UMLS:C3150987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0100062 {source="DC-OMIM:613721", source="DOID:0080421", source="MONDO:Redundant", source="OMIM:613721"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10588 ! SCN2A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10588 {source="MONDO:mim2gene_medgen"} ! SCN2A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -306476,8 +304964,8 @@ is_a: MONDO:0017385 {source="Orphanet:293181/btnt"} ! malignant migrating partia is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome is_a: MONDO:0100062 {source="DC-OMIM:613722", source="MONDO:Redundant", source="OMIM:613722"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15917 ! PLCB1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15917 {source="MONDO:mim2gene_medgen"} ! PLCB1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15917 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15917 {source="OMIM:613722"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12" xsd:anyURI {source="GARD:0013318"} @@ -306505,7 +304993,6 @@ xref: Orphanet:254361 {source="MONDO:equivalentTo", source="OMIM:613723", source xref: UMLS:C3150989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462339"} is_a: MONDO:0015152 {source="DOID:0110285", source="OMIM:613723", source="Orphanet:254361"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016198 {source="Orphanet:254361"} ! qualitative or quantitative defects of plectin -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="MONDO:mim2gene_medgen"} ! PLEC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -306535,7 +305022,7 @@ xref: UMLS:C3150990 {source="MEDGEN:462340", source="MONDO:equivalentTo", source is_a: MONDO:0019046 {source="Orphanet:163684"} ! leukodystrophy is_a: MONDO:0019233 {source="Orphanet:163684", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013391 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10606 {source="MONDO:mim2gene_medgen"} ! SCP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10606 {source="OMIM:613724"} [Term] id: MONDO:0013392 @@ -306563,8 +305050,8 @@ xref: Orphanet:284289 {source="MONDO:equivalentTo", source="OMIM:613728"} xref: UMLS:C3150998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462348"} is_a: MONDO:0015244 {source="DOID:0050999", source="MONDO:Redundant", source="OMIM:613728", source="Orphanet:284289"} ! autosomal recessive cerebellar ataxia intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25519 ! ANO10 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25519 {source="MONDO:mim2gene_medgen"} ! ANO10 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25519 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25519 {source="OMIM:613728"} [Term] id: MONDO:0013393 @@ -306614,7 +305101,7 @@ xref: OMIM:613730 {source="Orphanet:306547", source="MONDO:equivalentTo", source xref: Orphanet:306547 {source="OMIM:613730", source="MONDO:equivalentTo"} xref: UMLS:C3151000 {source="MEDGEN:462350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:306547", source="Orphanet:306547/inferred"} ! disorder of development or morphogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15532 {source="MONDO:mim2gene_medgen"} ! JAM3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15532 {source="OMIM:613730"} [Term] id: MONDO:0013395 @@ -306642,7 +305129,6 @@ xref: UMLS:C3151001 {source="MEDGEN:462351", source="MONDO:equivalentTo", source is_a: MONDO:0019200 {source="DC-OMIM:613731", source="DOID:0110372", source="MESH:C566706", source="MONDO:Redundant", source="OMIM:613731"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10012 ! RHO -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10012 {source="MONDO:mim2gene_medgen"} ! RHO property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10405/retinitis-pigmentosa-4" xsd:anyURI {source="GARD:0010405"} @@ -306678,7 +305164,6 @@ is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:401986", source= intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr1p32-p31 ! 1p32-p31 (Human) relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7784 {source="MONDO:mim2gene_medgen"} ! NFIA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI [Term] @@ -306697,8 +305182,8 @@ xref: Orphanet:387 {source="OMIM:613736"} xref: UMLS:C3151037 {source="MEDGEN:462387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0024516 {source="MONDO:Redundant", source="OMIM:613736"} ! familial acne inversa intersection_of: MONDO:0024516 ! familial acne inversa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30100 ! PSENEN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30100 {source="MONDO:mim2gene_medgen"} ! PSENEN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30100 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30100 {source="OMIM:613736"} [Term] id: MONDO:0013398 @@ -306716,7 +305201,6 @@ xref: UMLS:C3151038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0024516 {source="MONDO:Redundant", source="OMIM:613737"} ! familial acne inversa intersection_of: MONDO:0024516 ! familial acne inversa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9508 ! PSEN1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9508 {source="MONDO:mim2gene_medgen"} ! PSEN1 [Term] id: MONDO:0013399 @@ -306757,7 +305241,7 @@ is_a: MONDO:0005495 {source="DOID:0050546", source="MONDO:Entailed", source="Orp is_a: MONDO:0020040 {source="https://orcid.org/0000-0002-5002-8648"} ! 46,XY disorder of sex development is_a: MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0015129 {source="Orphanet:168558", source="https://orcid.org/0000-0001-5208-3432"} ! chronic primary adrenal insufficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2590 {source="MONDO:mim2gene_medgen"} ! CYP11A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2590 {source="OMIM:613743"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI @@ -306790,7 +305274,6 @@ xref: UMLS:C3151056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019064 {source="DOID:0110803", source="MONDO:Redundant", source="OMIM:613744"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/573 ! AP4E1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/573 {source="MONDO:mim2gene_medgen"} ! AP4E1 [Term] id: MONDO:0013402 @@ -306815,7 +305298,6 @@ xref: UMLS:C1834329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:613750", source="DOID:0110397", source="MESH:C563526", source="MONDO:Redundant", source="OMIM:613750"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8002 ! NRL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8002 {source="MONDO:mim2gene_medgen"} ! NRL [Term] id: MONDO:0013403 @@ -306835,8 +305317,8 @@ xref: UMLS:C3151057 {source="MEDGEN:462407", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018677 {source="DC-OMIM:613751", source="MONDO:Redundant", source="OMIM:613751"} ! visceral heterotaxy intersection_of: MONDO:0018677 ! visceral heterotaxy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/174 ! ACVR2B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/174 {source="MONDO:mim2gene_medgen"} ! ACVR2B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/174 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/174 {source="OMIM:613751"} [Term] id: MONDO:0013404 @@ -306865,7 +305347,7 @@ is_a: MONDO:0000351 {source="DC-OMIM:613752", source="DOID:0111039"} ! disorder is_a: MONDO:0019222 {source="Orphanet:88618"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013404 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:88618", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/343 {source="MONDO:mim2gene_medgen"} ! AHCY +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/343 {source="OMIM:613752"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -306889,9 +305371,9 @@ xref: UMLS:C3151059 {source="MEDGEN:462409", source="MONDO:equivalentTo", source is_a: MONDO:0019200 {source="DC-OMIM:613756", source="DOID:0110377", source="MONDO:Redundant", source="OMIM:613756"} ! retinitis pigmentosa is_a: MONDO:0800405 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGA1-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2148 ! CNGA1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2148 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2148 {source="MONDO:mim2gene_medgen"} ! CNGA1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2148 {source="OMIM:613756"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -306916,7 +305398,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005150 {source="DC-OMIM:613757", source="DOID:0110018", source="MONDO:Redundant", source="OMIM:613757"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18286 ! RAX2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18286 {source="MONDO:mim2gene_medgen"} ! RAX2 [Term] id: MONDO:0013407 @@ -306939,7 +305420,6 @@ xref: UMLS:C3151061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:613758", source="DOID:0110369", source="MONDO:Redundant", source="OMIM:613758"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10521 ! SAG -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10521 {source="MONDO:mim2gene_medgen"} ! SAG [Term] id: MONDO:0013408 @@ -306964,7 +305444,7 @@ xref: Orphanet:306550 {source="MONDO:equivalentTo", source="OMIM:613759"} xref: SCTID:723334006 {source="MONDO:equivalentTo"} xref: UMLS:C3151062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462412"} is_a: MONDO:0021094 {source="OMIM:613759", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3573 {source="MONDO:mim2gene_medgen"} ! FADD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3573 {source="OMIM:613759"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -306988,7 +305468,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0005150 ! age-related macular degeneration relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: excluded_subClassOf MONDO:0005150 {source="DC-OMIM:613761", source="DOID:0110028", source="MONDO:Redundant", source="OMIM:613761", source="https://orcid.org/0000-0001-5208-3432"} ! age-related macular degeneration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 {source="MONDO:mim2gene_medgen"} ! ERCC6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -307014,7 +305493,7 @@ xref: Orphanet:251510 {source="OMIM:613762"} xref: UMLS:C3151064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462414"} is_a: MONDO:0010765 {source="DOID:0111769", source="OMIM:613762", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6848 {source="MONDO:mim2gene_medgen"} ! MAP3K1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6848 {source="OMIM:613762"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -307048,7 +305527,6 @@ is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt"} ! e is_a: MONDO:0020379 {source="Orphanet:98995/btnt"} ! early-onset zonular cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2389 ! CRYAB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2389 {source="MONDO:mim2gene_medgen"} ! CRYAB [Term] id: MONDO:0013412 @@ -307075,7 +305553,6 @@ is_a: MONDO:0024573 {source="DOID:0110315", source="MESH:C566044", source="MONDO is_a: MONDO:0100494 {source="https://orcid.org/0000-0001-9310-0163"} ! autosomal dominant titinopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 ! TTN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 {source="MONDO:mim2gene_medgen"} ! TTN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7346" xsd:anyURI [Term] @@ -307099,9 +305576,9 @@ xref: UMLS:C3151066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:613767", source="DOID:0110402", source="MONDO:Redundant", source="OMIM:613767"} ! retinitis pigmentosa is_a: MONDO:0800403 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGB1-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2151 ! CNGB1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2151 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2151 {source="MONDO:mim2gene_medgen"} ! CNGB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2151 {source="OMIM:613767"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -307124,8 +305601,8 @@ xref: OMIM:613769 {source="MONDO:equivalentTo", source="DOID:0110394"} xref: UMLS:C3151068 {source="MEDGEN:462418", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019200 {source="DC-OMIM:613769", source="DOID:0110394", source="MONDO:Redundant", source="OMIM:613769"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9990 ! RGR -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9990 {source="MONDO:mim2gene_medgen"} ! RGR +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9990 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9990 {source="OMIM:613769"} [Term] id: MONDO:0013415 @@ -307167,8 +305644,8 @@ xref: UMLS:C3151070 {source="MEDGEN:462420", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:613778", source="DOID:0110020", source="MONDO:Redundant", source="OMIM:613778"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32685 ! ARMS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32685 {source="MONDO:mim2gene_medgen"} ! ARMS2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32685 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32685 {source="OMIM:613778"} [Term] id: MONDO:0013417 @@ -307200,7 +305677,6 @@ is_a: MONDO:0000015 {source="DC-OMIM:613779", source="MONDO:Redundant"} ! classi is_a: MONDO:0003832 {source="DOID:8354", source="MONDO:Redundant", source="NCIT:C9468", source="Orphanet:280133"} ! complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1318 ! C3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1318 {source="MONDO:mim2gene_medgen"} ! C3 [Term] id: MONDO:0013418 @@ -307220,7 +305696,6 @@ xref: UMLS:C3151077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:613780", source="Orphanet:91387/btnt"} ! familial thoracic aortic aneurysm and aortic dissection intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7590 ! MYLK -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7590 {source="MONDO:mim2gene_medgen"} ! MYLK [Term] id: MONDO:0013419 @@ -307241,7 +305716,6 @@ xref: Orphanet:169147 {source="OMIM:613783"} xref: UMLS:C3151078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462428"} is_a: MONDO:0000015 {source="DC-OMIM:613783"} ! classic complement early component deficiency is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1247 {source="MONDO:mim2gene_medgen"} ! C1S [Term] id: MONDO:0013420 @@ -307264,7 +305738,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005150 {source="DC-OMIM:613784", source="DOID:0110024", source="MONDO:Redundant", source="OMIM:613784"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2558 ! CX3CR1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2558 {source="MONDO:mim2gene_medgen"} ! CX3CR1 [Term] id: MONDO:0013421 @@ -307298,8 +305771,8 @@ xref: UMLS:C3151080 {source="MONDO:equivalentTo", source="MEDGEN:462430", source is_a: MONDO:0000015 {source="DC-OMIM:613789", source="MONDO:Redundant"} ! classic complement early component deficiency is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1353 ! C8B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1353 {source="MONDO:mim2gene_medgen"} ! C8B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1353 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1353 {source="OMIM:613789"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10625/complement-component-8-deficiency-type-2" xsd:anyURI {source="GARD:0010625"} @@ -307333,8 +305806,8 @@ xref: UMLS:C3151081 {source="MEDGEN:462431", source="MONDO:equivalentTo", source is_a: MONDO:0000015 {source="DC-OMIM:613790", source="MONDO:Redundant"} ! classic complement early component deficiency is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1352 ! C8A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1352 {source="MONDO:mim2gene_medgen"} ! C8A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1352 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1352 {source="OMIM:613790"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10626/complement-component-8-deficiency-type-1" xsd:anyURI {source="GARD:0010626"} @@ -307361,7 +305834,7 @@ xref: Orphanet:331187 {source="MONDO:equivalentTo", source="OMIM:613791"} xref: UMLS:C3151085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462435"} is_a: MONDO:0003832 {source="Orphanet:331187"} ! complement deficiency is_a: MONDO:0044209 {source="OMIM:613791"} ! disorder of lectin complement activation pathway -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6902 {source="MONDO:mim2gene_medgen"} ! MASP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6902 {source="OMIM:613791"} [Term] id: MONDO:0013424 @@ -307434,7 +305907,6 @@ xref: OMIM:613794 {source="MONDO:equivalentTo", source="DOID:0110353"} xref: UMLS:C3151086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462436"} is_a: MONDO:0019200 {source="DC-OMIM:613794", source="DOID:0110353", source="MESH:C566718", source="MONDO:Redundant", source="OMIM:613794"} ! retinitis pigmentosa is_a: MONDO:0100368 {source="https://clinicalgenome.org/affiliation/40072/"} ! RPE65-related recessive retinopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10294 {source="MONDO:mim2gene_medgen"} ! RPE65 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10404/retinitis-pigmentosa-20" xsd:anyURI {source="GARD:0010404"} [Term] @@ -307469,7 +305941,7 @@ is_a: MONDO:0017310 {source="MONDO:Redundant", source="Orphanet:284984"} ! Marfa is_a: MONDO:0018954 {source="DC-OMIM:613795", source="DOID:0070237", source="OMIM:613795"} ! Loeys-Dietz syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013426 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613795", source="Orphanet:284984"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6769 {source="MONDO:mim2gene_medgen"} ! SMAD3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6769 {source="OMIM:613795"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -307497,7 +305969,6 @@ xref: UMLS:C3151088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0006025 {source="DOID:0111944"} ! autosomal recessive disease is_a: MONDO:0021094 {source="OMIM:613796"} ! immunodeficiency disease relationship: has_characteristic HP:0000007 {source="OMIM:613796"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11362 {source="MONDO:mim2gene_medgen"} ! STAT1 [Term] id: MONDO:0013428 @@ -307521,10 +305992,10 @@ xref: Orphanet:2554 {source="OMIM:613800"} xref: UMLS:C3151097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462447"} is_a: MONDO:0016817 {source="DC-OMIM:613800", source="DOID:0080513", source="MONDO:Redundant", source="OMIM:613800"} ! Meier-Gorlin syndrome intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8490 ! ORC4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8490 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013428 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613800"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8490 {source="MONDO:mim2gene_medgen"} ! ORC4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8490 {source="OMIM:613800"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -307549,7 +306020,6 @@ xref: UMLS:C3151107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:613801", source="DOID:0110375", source="MONDO:Redundant", source="OMIM:613801"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8786 ! PDE6B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8786 {source="MONDO:mim2gene_medgen"} ! PDE6B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -307573,9 +306043,9 @@ xref: Orphanet:2554 {source="OMIM:613803"} xref: UMLS:C3151113 {source="MONDO:equivalentTo", source="MEDGEN:462463", source="MONDO:MEDGEN"} is_a: MONDO:0016817 {source="DC-OMIM:613803", source="DOID:0080514", source="MONDO:Redundant", source="OMIM:613803"} ! Meier-Gorlin syndrome intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17151 ! ORC6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17151 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613803"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17151 {source="MONDO:mim2gene_medgen"} ! ORC6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17151 {source="OMIM:613803"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -307600,10 +306070,10 @@ xref: Orphanet:2554 {source="OMIM:613804"} xref: UMLS:C3151120 {source="MEDGEN:462470", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016817 {source="DC-OMIM:613804", source="DOID:0080515", source="MONDO:Redundant", source="OMIM:613804"} ! Meier-Gorlin syndrome intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24576 ! CDT1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24576 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013431 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613804"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24576 {source="MONDO:mim2gene_medgen"} ! CDT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24576 {source="OMIM:613804"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -307627,9 +306097,9 @@ xref: Orphanet:2554 {source="OMIM:613805"} xref: UMLS:C3151126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462476"} is_a: MONDO:0016817 {source="DC-OMIM:613805", source="DOID:0080516", source="MONDO:Redundant", source="OMIM:613805"} ! Meier-Gorlin syndrome intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1744 ! CDC6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1744 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613805"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1744 {source="MONDO:mim2gene_medgen"} ! CDC6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1744 {source="OMIM:613805"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -307686,9 +306156,9 @@ xref: Orphanet:244 {source="OMIM:613807"} xref: UMLS:C3151136 {source="MEDGEN:462486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:613807", source="DOID:0110598", source="MONDO:Redundant", source="OMIM:613807"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25244 ! CCDC39 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25244 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013434 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25244 {source="MONDO:mim2gene_medgen"} ! CCDC39 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25244 {source="OMIM:613807"} [Term] id: MONDO:0013435 @@ -307717,9 +306187,9 @@ xref: Orphanet:244 {source="OMIM:613808"} xref: UMLS:C3151137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462487"} is_a: MONDO:0016575 {source="DC-OMIM:613808", source="DOID:0110623", source="MONDO:Redundant", source="OMIM:613808"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26090 ! CCDC40 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26090 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013435 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26090 {source="MONDO:mim2gene_medgen"} ! CCDC40 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26090 {source="OMIM:613808"} [Term] id: MONDO:0013436 @@ -307741,7 +306211,6 @@ xref: OMIM:613809 {source="MONDO:equivalentTo", source="DOID:0110360"} xref: Orphanet:791 {source="OMIM:613809"} xref: UMLS:C3151138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462488"} is_a: MONDO:0019200 {source="DC-OMIM:613809", source="DOID:0110360", source="MONDO:Redundant", source="OMIM:613809"} ! retinitis pigmentosa -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12601 {source="MONDO:mim2gene_medgen"} ! USH2A [Term] id: MONDO:0013437 @@ -307764,9 +306233,9 @@ xref: UMLS:C3151139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:613810", source="DOID:0110379", source="MONDO:Redundant", source="OMIM:613810"} ! retinitis pigmentosa is_a: MONDO:0700224 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! PDE6A-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8785 ! PDE6A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8785 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8785 {source="MONDO:mim2gene_medgen"} ! PDE6A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8785 {source="OMIM:613810"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -307793,8 +306262,8 @@ xref: UMLS:C3151140 {source="MEDGEN:462490", source="MONDO:equivalentTo", source is_a: MONDO:0016759 {source="DOID:0060270", source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 is_a: MONDO:0020135 {source="DOID:0060270", source="MONDO:Redundant", source="OMIM:613811"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30605 ! SEPSECS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30605 {source="MONDO:mim2gene_medgen"} ! SEPSECS +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30605 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30605 {source="OMIM:613811"} [Term] id: MONDO:0013439 @@ -307827,7 +306296,6 @@ is_a: MONDO:0018841 {source="DC-OMIM:613812", source="DOID:0111070", source="MON intersection_of: MONDO:0018841 ! congenital bile acid synthesis defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2652 ! CYP7B1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2652 {source="MONDO:mim2gene_medgen"} ! CYP7B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -307863,7 +306331,6 @@ is_a: MONDO:0015286 ! congenital disorder of glycosylation intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2666 ! DAG1 relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2666 {source="MONDO:mim2gene_medgen"} ! DAG1 [Term] id: MONDO:0013441 @@ -307885,7 +306352,6 @@ xref: OMIM:613819 {source="MONDO:equivalentTo", source="DOID:0110088"} xref: Orphanet:474 {source="OMIM:613819"} xref: UMLS:C3151185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462535"} is_a: MONDO:0018770 {source="DOID:0110088", source="OMIM:613819"} ! Jeune syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25660 {source="MONDO:mim2gene_medgen"} ! TTC21B [Term] id: MONDO:0013442 @@ -307911,7 +306377,6 @@ intersection_of: MONDO:0019005 ! nephronophthisis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25660 ! TTC21B relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013442 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613820"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25660 {source="MONDO:mim2gene_medgen"} ! TTC21B [Term] id: MONDO:0013443 @@ -307936,7 +306401,6 @@ is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender b intersection_of: MONDO:0019342 ! Seckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29298 ! CEP152 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613823"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29298 {source="MONDO:mim2gene_medgen"} ! CEP152 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -307960,7 +306424,6 @@ is_a: MONDO:0019005 {source="DC-OMIM:613824", source="DOID:0111120", source="MON intersection_of: MONDO:0019005 ! nephronophthisis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13387 ! NEK8 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613824"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13387 {source="MONDO:mim2gene_medgen"} ! NEK8 [Term] id: MONDO:0013445 @@ -307986,7 +306449,6 @@ is_a: MONDO:0000015 {source="DC-OMIM:613825", source="MONDO:Redundant"} ! classi is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1358 ! C9 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1358 {source="MONDO:mim2gene_medgen"} ! C9 [Term] id: MONDO:0013446 @@ -308011,7 +306473,6 @@ xref: UMLS:C1854260 {source="MEDGEN:344245", source="MONDO:equivalentTo", source is_a: MONDO:0018998 {source="DC-OMIM:613826", source="DOID:0110329", source="MESH:C565327", source="MONDO:Redundant", source="OMIM:613826"} ! Leber congenital amaurosis intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13436 ! RPGRIP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13436 {source="MONDO:mim2gene_medgen"} ! RPGRIP1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10490/leber-congenital-amaurosis-6" xsd:anyURI {source="GARD:0010490"} [Term] @@ -308034,8 +306495,8 @@ xref: OMIM:613827 {source="MONDO:equivalentTo", source="DOID:0110382"} xref: UMLS:C3151190 {source="MONDO:equivalentTo", source="MEDGEN:462540", source="MONDO:MEDGEN"} is_a: MONDO:0019200 {source="DC-OMIM:613827", source="DOID:0110382", source="MONDO:Redundant", source="OMIM:613827"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4679 ! GUCA1B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4679 {source="MONDO:mim2gene_medgen"} ! GUCA1B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4679 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4679 {source="OMIM:613827"} [Term] id: MONDO:0013448 @@ -308075,7 +306536,6 @@ xref: UMLS:C3151192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018998 {source="DC-OMIM:613829", source="DOID:0110333", source="MONDO:Redundant", source="OMIM:613829"} ! Leber congenital amaurosis intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2383 ! CRX -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2383 {source="MONDO:mim2gene_medgen"} ! CRX property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10880/leber-congenital-amaurosis-7" xsd:anyURI {source="GARD:0010880"} [Term] @@ -308100,9 +306560,9 @@ xref: OMIM:613830 {source="DOID:0110868", source="MONDO:equivalentTo"} xref: UMLS:C3151193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462543"} is_a: MONDO:0016293 {source="DC-OMIM:613830", source="DOID:0110868", source="MONDO:Redundant", source="OMIM:613830"} ! congenital stationary night blindness intersection_of: MONDO:0016293 ! congenital stationary night blindness -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10975 ! SLC24A1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10975 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10975 {source="MONDO:mim2gene_medgen"} ! SLC24A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10975 {source="OMIM:613830"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -308135,7 +306595,6 @@ xref: Orphanet:404463 {source="MONDO:equivalentTo", source="OMIM:613834"} xref: UMLS:C3151201 {source="MONDO:equivalentTo", source="MEDGEN:462551", source="MONDO:MEDGEN"} is_a: MONDO:0005385 ! vascular disorder is_a: MONDO:0021189 {source="Orphanet:404463"} ! intestinal motility disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/130 {source="MONDO:mim2gene_medgen"} ! ACTA2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome" xsd:anyURI {source="GARD:0012811"} [Term] @@ -308160,7 +306619,6 @@ is_a: MONDO:0018998 {source="DC-OMIM:613835", source="DOID:0110079", source="MON intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2343 ! CRB1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2343 {source="MONDO:mim2gene_medgen"} ! CRB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10881/leber-congenital-amaurosis-8" xsd:anyURI {source="GARD:0010881"} @@ -308189,7 +306647,6 @@ is_a: MONDO:0018998 {source="DC-OMIM:613837", source="DOID:0110216", source="MES intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6052 ! IMPDH1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6052 {source="MONDO:mim2gene_medgen"} ! IMPDH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10488/leber-congenital-amaurosis-11" xsd:anyURI {source="GARD:0010488"} @@ -308216,8 +306673,8 @@ xref: UMLS:C3151204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005045 {source="DC-OMIM:613838", source="DOID:0110322", source="MONDO:Redundant", source="OMIM:613838"} ! hypertrophic cardiomyopathy is_a: MONDO:0024573 {source="DOID:0110322", source="MONDO:OMIM", source="OMIM:613838"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1330 ! MYOZ2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1330 {source="MONDO:mim2gene_medgen"} ! MYOZ2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1330 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1330 {source="OMIM:613838"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -308244,7 +306701,7 @@ xref: UMLS:C3151205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0001700 {source="DC-OMIM:613839", source="MONDO:indirect"} ! megaloblastic anemia is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0017313 {source="Orphanet:319651"} ! disorder of folate metabolism and transport -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2861 {source="MONDO:mim2gene_medgen"} ! DHFR +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2861 {source="OMIM:613839"} [Term] id: MONDO:0013457 @@ -308268,7 +306725,6 @@ xref: UMLS:C3151206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018998 {source="DC-OMIM:613843", source="DOID:0110189", source="MONDO:Redundant", source="OMIM:613843"} ! Leber congenital amaurosis intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12423 ! TULP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12423 {source="MONDO:mim2gene_medgen"} ! TULP1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10884/leber-congenital-amaurosis-15" xsd:anyURI {source="GARD:0010884"} [Term] @@ -308295,7 +306751,7 @@ is_a: MONDO:0005149 {source="MONDO:0017159-obsoleted"} ! pulmonary hypertension is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder is_a: MONDO:0015962 {source="Orphanet:363694"} ! inherited renal tubular disease is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17697 {source="MONDO:mim2gene_medgen"} ! SARS2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17697 {source="OMIM:613845"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -308325,7 +306781,6 @@ is_a: MONDO:0019019 {source="DC-OMIM:613848", source="DOID:0110346", source="MON is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0019019 ! osteogenesis imperfecta intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1546 ! SERPINH1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1546 {source="MONDO:mim2gene_medgen"} ! SERPINH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -308352,8 +306807,8 @@ xref: UMLS:C3151433 {source="MEDGEN:462783", source="MONDO:equivalentTo", source is_a: MONDO:0019019 {source="DC-OMIM:613849", source="DOID:0110348", source="MONDO:Redundant", source="OMIM:613849"} ! osteogenesis imperfecta is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0019019 ! osteogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17321 ! SP7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17321 {source="MONDO:mim2gene_medgen"} ! SP7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17321 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17321 {source="OMIM:613849"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -308372,7 +306827,6 @@ xref: Orphanet:319684 {source="OMIM:613850", source="MONDO:equivalentObsolete"} xref: SCTID:238011005 {source="MONDO:equivalentTo"} xref: UMLS:C0342800 {source="MEDGEN:452450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="MESH:C564127/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6176 {source="MONDO:mim2gene_medgen"} ! ITPA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -308384,7 +306838,7 @@ xref: MEDGEN:462569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613852 {source="MONDO:equivalentTo"} xref: UMLS:C3151219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462569"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4017 {source="MONDO:mim2gene_medgen"} ! FUT6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4017 {source="OMIM:613852"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -308414,7 +306868,6 @@ is_a: MONDO:0000119 {source="https://orcid.org/0000-0001-5493-2602"} ! congenita intersection_of: MONDO:0019443 ! dextro-looped transposition of the great arteries intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4214 ! GDF1 relationship: excluded_subClassOf MONDO:0019443 {source="DOID:0060772", source="OMIM:613854", source="https://orcid.org/0000-0001-5208-3432"} ! dextro-looped transposition of the great arteries -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4214 {source="MONDO:mim2gene_medgen"} ! GDF1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5348" xsd:anyURI [Term] @@ -308443,7 +306896,6 @@ xref: UMLS:C1866039 {source="MEDGEN:356142", source="MONDO:equivalentTo", source is_a: MONDO:0016227 {source="DOID:0050993", source="MONDO:Redundant", source="OMIM:613855", source="Orphanet:211067"} ! hereditary episodic ataxia intersection_of: MONDO:0016227 ! hereditary episodic ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1404 ! CACNB4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1404 {source="MONDO:mim2gene_medgen"} ! CACNB4 [Term] id: MONDO:0013465 @@ -308466,9 +306918,9 @@ xref: UMLS:C1841721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018852 {source="DC-OMIM:613856", source="DOID:0110010", source="MONDO:Redundant"} ! achromatopsia is_a: MONDO:0800392 {source="https://clinicalgenome.org/affiliation/40072/"} ! GNAT2-related retinopathy intersection_of: MONDO:0018852 ! achromatopsia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4394 ! GNAT2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4394 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4394 {source="MONDO:mim2gene_medgen"} ! GNAT2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4394 {source="OMIM:613856"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -308507,7 +306959,7 @@ xref: SCTID:766705006 {source="MONDO:equivalentTo"} xref: UMLS:C3151226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462576"} is_a: MONDO:0003832 {source="Orphanet:331190"} ! complement deficiency is_a: MONDO:0044209 {source="OMIM:613860"} ! disorder of lectin complement activation pathway -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3625 {source="MONDO:mim2gene_medgen"} ! FCN3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3625 {source="OMIM:613860"} [Term] id: MONDO:0013468 @@ -308532,7 +306984,6 @@ xref: UMLS:C3151227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:613861", source="DOID:0110352", source="MONDO:Redundant", source="OMIM:613861"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20603 ! DHDDS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20603 {source="MONDO:mim2gene_medgen"} ! DHDDS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -308557,9 +307008,9 @@ xref: UMLS:C3151228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:613862", source="DOID:0110367", source="MONDO:Redundant", source="OMIM:613862"} ! retinitis pigmentosa is_a: MONDO:0800394 {source="https://clinicalgenome.org/affiliation/40072/"} ! MERTK-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7027 ! MERTK +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7027 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7027 {source="MONDO:mim2gene_medgen"} ! MERTK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7027 {source="OMIM:613862"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -308586,7 +307037,6 @@ xref: UMLS:C2751778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018214 {source="DC-OMIM:613863", source="DOID:0111295", source="MONDO:Redundant", source="OMIM:613863"} ! generalized epilepsy with febrile seizures plus intersection_of: MONDO:0018214 ! generalized epilepsy with febrile seizures plus intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10597 ! SCN9A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10597 {source="MONDO:mim2gene_medgen"} ! SCN9A [Term] id: MONDO:0013471 @@ -308611,8 +307061,8 @@ xref: OMIM:613865 {source="DOID:0110513", source="MONDO:equivalentTo"} xref: UMLS:C3151230 {source="MEDGEN:462580", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:613865", source="DOID:0110513", source="MONDO:Redundant", source="OMIM:613865"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9359 ! SLC26A5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9359 {source="MONDO:mim2gene_medgen"} ! SLC26A5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9359 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9359 {source="OMIM:613865"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -308639,7 +307089,6 @@ xref: Orphanet:280553 {source="MONDO:equivalentTo", source="OMIM:613869"} xref: UMLS:C5190691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684001"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0018943 {source="DOID:0080309", source="OMIM:613869", source="PMID:3672701", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0009-0001-6494-4831"} ! myofibrillar myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2389 {source="MONDO:mim2gene_medgen"} ! CRYAB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -308655,7 +307104,6 @@ xref: MESH:C563939 {source="MONDO:equivalentTo"} xref: OMIM:613870 {source="MONDO:equivalentTo"} xref: UMLS:C3151237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462587"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3146 {source="MONDO:mim2gene_medgen"} ! ECE1 [Term] id: MONDO:0013474 @@ -308682,7 +307130,6 @@ is_a: MONDO:0005045 {source="DC-OMIM:613873", source="DOID:0110323", source="MON is_a: MONDO:0024573 {source="DOID:0110323", source="MONDO:OMIM", source="OMIM:613873"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14202 ! JPH2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14202 {source="MONDO:mim2gene_medgen"} ! JPH2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -308709,7 +307156,6 @@ is_a: MONDO:0005045 {source="DC-OMIM:613874", source="DOID:0110324", source="MON is_a: MONDO:0024573 {source="DOID:0110324", source="MONDO:OMIM", source="OMIM:613874"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9080 ! PLN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9080 {source="MONDO:mim2gene_medgen"} ! PLN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -308733,7 +307179,6 @@ is_a: MONDO:0005045 {source="DC-OMIM:613875", source="DOID:0110325", source="MON is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613875"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20407 ! CALR3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20407 {source="MONDO:mim2gene_medgen"} ! CALR3 [Term] id: MONDO:0013477 @@ -308760,7 +307205,6 @@ is_a: MONDO:0005045 {source="DC-OMIM:613876", source="DOID:0110326", source="MON is_a: MONDO:0024573 {source="DOID:0110326", source="MONDO:OMIM", source="OMIM:613876"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29557 ! NEXN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29557 {source="MONDO:mim2gene_medgen"} ! NEXN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -308788,7 +307232,7 @@ xref: Orphanet:280356 {source="MONDO:equivalentTo", source="OMIM:613877"} xref: UMLS:C5191005 {source="MEDGEN:1675945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020088 {source="DC-OMIM:613877", source="DOID:0070205", source="OMIM:613877", source="Orphanet:280356"} ! familial partial lipodystrophy relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9076 {source="MONDO:mim2gene_medgen"} ! PLIN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9076 {source="OMIM:613877"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI [Term] @@ -308812,7 +307256,6 @@ xref: OMIM:613881 {source="DOID:0110448", source="MONDO:equivalentTo"} xref: Orphanet:154 {source="OMIM:613881"} xref: UMLS:C3151293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462643"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613881"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/939 {source="MONDO:mim2gene_medgen"} ! BAG3 [Term] id: MONDO:0013480 @@ -308833,7 +307276,6 @@ xref: Orphanet:34527 {source="OMIM:613882", source="DOID:0060884"} xref: UMLS:C3151295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462645"} is_a: MONDO:0018100 {source="DOID:0060884", source="MONDO:Redundant", source="OMIM:613882"} ! familial primary hypomagnesemia is_a: MONDO:0018101 {source="Orphanet:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/103 {source="MONDO:mim2gene_medgen"} ! CNNM2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12155/renal-hypomagnesemia-6" xsd:anyURI {source="GARD:0012155"} [Term] @@ -308898,7 +307340,6 @@ xref: UMLS:C3836857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018921 {source="DC-OMIM:613885", source="DOID:0070122", source="MONDO:Redundant", source="OMIM:613885"} ! Meckel syndrome intersection_of: MONDO:0018921 ! Meckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25774 ! TCTN2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25774 {source="MONDO:mim2gene_medgen"} ! TCTN2 [Term] id: MONDO:0013483 @@ -308911,7 +307352,6 @@ xref: MESH:C563938 {source="MONDO:equivalentTo"} xref: OMIM:613886 {source="MONDO:equivalentTo"} xref: UMLS:C3151303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462653"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8032 {source="MONDO:mim2gene_medgen"} ! NTRK2 [Term] id: MONDO:0013484 @@ -308932,8 +307372,8 @@ xref: UMLS:C3151304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005129 {source="DC-OMIM:613887", source="DOID:0110247", source="OMIM:613887"} ! cataract intersection_of: MONDO:0005129 ! cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30831 ! TDRD7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30831 {source="MONDO:mim2gene_medgen"} ! TDRD7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30831 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30831 {source="OMIM:613887"} [Term] id: MONDO:0013485 @@ -308958,7 +307398,7 @@ xref: Orphanet:276193 {source="OMIM:613908", source="MONDO:equivalentTo"} xref: SCTID:719300001 {source="MONDO:equivalentTo"} xref: UMLS:C3888031 {source="MEDGEN:854733", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019792 {source="Orphanet:276193"} ! autosomal dominant cerebellar ataxia type I -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16255 {source="MONDO:mim2gene_medgen"} ! TGM6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16255 {source="OMIM:613908"} [Term] id: MONDO:0013486 @@ -309008,7 +307448,7 @@ xref: Orphanet:169467 {source="MONDO:equivalentTo", source="OMIM:613912"} xref: SCTID:234607008 {source="MONDO:equivalentTo"} xref: UMLS:C0398764 {source="MEDGEN:97989", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003832 {source="https://orcid.org/0000-0001-5208-3432"} ! complement deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2771 {source="MONDO:mim2gene_medgen"} ! CFD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2771 {source="OMIM:613912"} [Term] id: MONDO:0013488 @@ -309047,7 +307487,6 @@ xref: UMLS:C3151351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019588 {source="DC-OMIM:613916", source="DOID:0110534", source="MONDO:Redundant", source="OMIM:613916"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6215 ! KARS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6215 {source="MONDO:mim2gene_medgen"} ! KARS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -309070,7 +307509,6 @@ xref: UMLS:C3151355 {source="MEDGEN:462705", source="MONDO:equivalentTo", source is_a: MONDO:0000137 {source="MONDO:Redundant", source="OMIM:613925"} ! leukoencephalopathy, megalencephalic is_a: MONDO:0011391 {source="DOID:0080318", source="Orphanet:2478/btnt"} ! megalencephalic leukoencephalopathy with subcortical cysts relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013490 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26361 {source="MONDO:mim2gene_medgen"} ! HEPACAM [Term] id: MONDO:0013491 @@ -309091,7 +307529,6 @@ xref: UMLS:C3151356 {source="MEDGEN:462706", source="MONDO:equivalentTo", source is_a: MONDO:0000137 {source="MONDO:Redundant", source="OMIM:613926"} ! leukoencephalopathy, megalencephalic is_a: MONDO:0011391 {source="DOID:0080317", source="Orphanet:2478/btnt"} ! megalencephalic leukoencephalopathy with subcortical cysts relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013491 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26361 {source="MONDO:mim2gene_medgen"} ! HEPACAM [Term] id: MONDO:0013492 @@ -309122,7 +307559,7 @@ xref: MESH:C562678 {source="MONDO:equivalentTo"} xref: OMIM:613933 {source="MONDO:equivalentTo"} xref: UMLS:C0268603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124338"} is_a: MONDO:0003847 {source="MESH:C562678/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/84 {source="MONDO:mim2gene_medgen"} ! ACACA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/84 {source="OMIM:613933"} [Term] id: MONDO:0013494 @@ -309158,9 +307595,9 @@ xref: UMLS:C3553029 {source="MEDGEN:765943", source="MONDO:equivalentTo", source is_a: MONDO:0017265 {source="DOID:0060717", source="MONDO:Redundant", source="OMIM:613943"} ! autosomal recessive congenital ichthyosis is_a: MONDO:0017778 {source="Orphanet:313/btnt"} ! lamellar ichthyosis intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23452 ! LIPN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23452 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23452 {source="MONDO:mim2gene_medgen"} ! LIPN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23452 {source="OMIM:613943"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -309189,7 +307626,6 @@ xref: MEDGEN:462729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613949 {source="MONDO:equivalentTo"} xref: UMLS:C3151379 {source="MEDGEN:462729", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1678 {source="MONDO:mim2gene_medgen"} ! CD4 [Term] id: MONDO:0013498 @@ -309207,7 +307643,6 @@ xref: UMLS:C3151380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005090 {source="DC-OMIM:613950", source="DOID:0070091", source="MONDO:Redundant"} ! schizophrenia intersection_of: MONDO:0005090 ! schizophrenia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14294 ! SHANK3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14294 {source="MONDO:mim2gene_medgen"} ! SHANK3 [Term] id: MONDO:0013499 @@ -309237,8 +307672,8 @@ xref: OMIM:613951 {source="DOID:0111092", source="MONDO:equivalentTo"} xref: UMLS:C3469542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854020"} is_a: MONDO:0019391 {source="DC-OMIM:613951", source="DOID:0111092", source="MONDO:Redundant", source="OMIM:613951"} ! Fanconi anemia intersection_of: MONDO:0019391 ! Fanconi anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23845 ! SLX4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23845 {source="MONDO:mim2gene_medgen"} ! SLX4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23845 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23845 {source="OMIM:613951"} [Term] id: MONDO:0013500 @@ -309261,8 +307696,8 @@ xref: OMIM:613953 {source="MONDO:equivalentTo"} xref: Orphanet:1334 {source="MONDO:relatedTo", source="OMIM:613953"} xref: UMLS:C4310803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934770"} intersection_of: MONDO:0015279 ! chronic mucocutaneous candidiasis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5985 ! IL17RA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5985 {source="MONDO:mim2gene_medgen"} ! IL17RA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5985 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5985 {source="OMIM:613953"} [Term] id: MONDO:0013501 @@ -309289,7 +307724,6 @@ is_a: MONDO:0017161 {source="OMIM:613954", source="Orphanet:275872/btnt"} ! fron is_a: MONDO:0030923 {source="OMIM:613954"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12666 ! VCP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12666 {source="MONDO:mim2gene_medgen"} ! VCP [Term] id: MONDO:0013502 @@ -309308,8 +307742,8 @@ xref: Orphanet:353220 {source="OMIM:613955"} xref: UMLS:C3151404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462754"} is_a: MONDO:0007101 {source="MONDO:Redundant", source="OMIM:613955", source="Orphanet:353220/btnt"} ! familial primary localized cutaneous amyloidosis intersection_of: MONDO:0007101 ! familial primary localized cutaneous amyloidosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18969 ! IL31RA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18969 {source="MONDO:mim2gene_medgen"} ! IL31RA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18969 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18969 {source="OMIM:613955"} [Term] id: MONDO:0013503 @@ -309331,8 +307765,8 @@ xref: OMIM:613956 {source="MONDO:equivalentTo"} xref: UMLS:C3151405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462755"} is_a: MONDO:0015279 {source="MONDO:Redundant", source="OMIM:613956"} ! chronic mucocutaneous candidiasis intersection_of: MONDO:0015279 ! chronic mucocutaneous candidiasis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16404 ! IL17F -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16404 {source="MONDO:mim2gene_medgen"} ! IL17F +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16404 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16404 {source="OMIM:613956"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -309357,7 +307791,6 @@ intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7983 ! NR5A1 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7983 ! NR5A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7983 {source="MONDO:mim2gene_medgen"} ! NR5A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7983 {source="MONDO:mim2gene_medgen"} ! NR5A1 [Term] id: MONDO:0013505 @@ -309384,9 +307817,9 @@ is_a: MONDO:0004983 {source="DC-OMIM:613958", source="MONDO:Redundant", source=" is_a: MONDO:0015746 {source="DOID:0111156", source="Orphanet:171709/btnt"} ! male infertility due to globozoospermia intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19414 ! DPY19L2 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19414 ! DPY19L2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19414 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19414 {source="MONDO:mim2gene_medgen"} ! DPY19L2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19414 {source="MONDO:mim2gene_medgen"} ! DPY19L2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19414 {source="OMIM:613958"} [Term] id: MONDO:0013506 @@ -309424,7 +307857,7 @@ xref: OMIM:613960 {source="MONDO:equivalentTo"} xref: Orphanet:379 {source="OMIM:613960"} xref: UMLS:C3151409 {source="MEDGEN:462759", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018305 {source="DC-OMIM:613960", source="DOID:0070194", source="OMIM:613960"} ! chronic granulomatous disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7662 {source="MONDO:mim2gene_medgen"} ! NCF4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7662 {source="OMIM:613960"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -309466,7 +307899,6 @@ is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:613970"} ! intellect intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4586 ! GRIN2B relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4586 {source="MONDO:mim2gene_medgen"} ! GRIN2B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -309490,7 +307922,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial melanoma relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:613972", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12830 {source="MONDO:mim2gene_medgen"} ! XRCC3 relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -309506,7 +307937,6 @@ xref: OMIM:613977 {source="MONDO:equivalentTo"} xref: Orphanet:280615 {source="OMIM:613977"} xref: UMLS:C3151421 {source="MONDO:equivalentTo", source="MEDGEN:462771", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4832 {source="MONDO:mim2gene_medgen"} ! HBG2 [Term] id: MONDO:0013512 @@ -309574,7 +308004,6 @@ xref: UMLS:C3151431 {source="MEDGEN:462781", source="MONDO:equivalentTo", source is_a: MONDO:0018054 {source="DC-OMIM:613980", source="MONDO:Redundant", source="OMIM:613980"} ! familial atrial fibrillation intersection_of: MONDO:0018054 ! familial atrial fibrillation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6263 ! KCNJ2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6263 {source="MONDO:mim2gene_medgen"} ! KCNJ2 [Term] id: MONDO:0013514 @@ -309600,7 +308029,6 @@ is_a: MONDO:0003037 {source="DOID:0110700", source="MONDO:Redundant", source="OM is_a: MONDO:0019575 {source="Orphanet:90368/btnt"} ! hypotrichosis simplex of the scalp intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28929 ! KRT74 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28929 {source="MONDO:mim2gene_medgen"} ! KRT74 [Term] id: MONDO:0013515 @@ -309631,8 +308059,8 @@ xref: UMLS:C3279564 {source="MEDGEN:481194", source="MONDO:equivalentTo", source is_a: MONDO:0019019 {source="DC-OMIM:613982", source="DOID:0110350", source="MESH:C536047", source="MONDO:Redundant", source="OMIM:613982"} ! osteogenesis imperfecta is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0019019 ! osteogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8824 ! SERPINF1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8824 {source="MONDO:mim2gene_medgen"} ! SERPINF1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8824 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8824 {source="OMIM:613982"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -309655,8 +308083,8 @@ xref: OMIM:613983 {source="MONDO:equivalentTo", source="DOID:0110411"} xref: UMLS:C3151434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462784"} is_a: MONDO:0019200 {source="DC-OMIM:613983", source="DOID:0110411", source="MONDO:Redundant", source="OMIM:613983"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15860 ! PRPF6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15860 {source="MONDO:mim2gene_medgen"} ! PRPF6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15860 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15860 {source="OMIM:613983"} [Term] id: MONDO:0013517 @@ -309678,7 +308106,6 @@ xref: Orphanet:848 {source="OMIM:613985"} xref: SCDO:0000251 {source="MONDO:equivalentTo"} is_a: MONDO:0019402 {source="DC-OMIM:613985"} ! beta thalassemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013517 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4827 {source="MONDO:mim2gene_medgen"} ! HBB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -309701,7 +308128,6 @@ xref: UMLS:C3151440 {source="MEDGEN:462790", source="MONDO:equivalentTo", source is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:613986", source="Orphanet:95494/btnt"} ! combined pituitary hormone deficiencies, genetic form intersection_of: MONDO:0013099 ! combined pituitary hormone deficiencies, genetic form intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8522 ! OTX2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8522 {source="MONDO:mim2gene_medgen"} ! OTX2 [Term] id: MONDO:0013519 @@ -309725,8 +308151,8 @@ is_a: MONDO:0006025 {source="DOID:0070017"} ! autosomal recessive disease is_a: MONDO:0015780 {source="DC-OMIM:613987", source="DOID:0070017", source="MONDO:Redundant", source="OMIM:613987"} ! dyskeratosis congenita intersection_of: MONDO:0015780 ! dyskeratosis congenita intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14377 ! NHP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14377 {source="MONDO:mim2gene_medgen"} ! NHP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14377 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14377 {source="OMIM:613987"} [Term] id: MONDO:0013520 @@ -309750,8 +308176,8 @@ is_a: MONDO:0006025 {source="DOID:0070019"} ! autosomal recessive disease is_a: MONDO:0015780 {source="DC-OMIM:613988", source="DOID:0070019", source="MONDO:Redundant", source="OMIM:613988"} ! dyskeratosis congenita intersection_of: MONDO:0015780 ! dyskeratosis congenita intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25522 ! WRAP53 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25522 {source="MONDO:mim2gene_medgen"} ! WRAP53 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25522 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25522 {source="OMIM:613988"} [Term] id: MONDO:0013521 @@ -309781,7 +308207,6 @@ intersection_of: MONDO:0015780 ! dyskeratosis congenita intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11730 ! TERT relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013521 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11730 {source="MONDO:mim2gene_medgen"} ! TERT [Term] id: MONDO:0013522 @@ -309808,7 +308233,6 @@ is_a: MONDO:0015780 {source="DOID:0070018", source="MONDO:Redundant", source="OM intersection_of: MONDO:0015780 ! dyskeratosis congenita intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11824 ! TINF2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11824 {source="MONDO:mim2gene_medgen"} ! TINF2 [Term] id: MONDO:0013523 @@ -309837,7 +308261,7 @@ is_a: MONDO:0019303 {source="MONDO:Redundant", source="Orphanet:280576"} ! prema is_a: MONDO:0019707 {source="MONDO:Redundant", source="Orphanet:280576"} ! primary osteolysis is_a: MONDO:0020732 {source="MONDO:OMIMPS", source="OMIM:614008"} ! progeria relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614008", source="Orphanet:280576"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17397 {source="MONDO:mim2gene_medgen"} ! BANF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17397 {source="OMIM:614008"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11008/nestor-guillermo-progeria-syndrome" xsd:anyURI {source="GARD:0011008"} [Term] @@ -309873,8 +308297,8 @@ xref: OMIM:614017 {source="DOID:0110613", source="MONDO:equivalentTo"} xref: UMLS:C3151460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462810"} is_a: MONDO:0016575 {source="DC-OMIM:614017", source="DOID:0110613", source="MONDO:Redundant", source="OMIM:614017"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23247 ! DNAL1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23247 {source="MONDO:mim2gene_medgen"} ! DNAL1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23247 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23247 {source="OMIM:614017"} [Term] id: MONDO:0013526 @@ -309907,7 +308331,6 @@ xref: UMLS:C5190805 {source="MEDGEN:1681379", source="MONDO:equivalentTo", sourc is_a: MONDO:0020074 {source="DC-OMIM:614018", source="DOID:0111449", source="MONDO:Redundant", source="OMIM:614018", source="Orphanet:280620"} ! progressive myoclonus epilepsy intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4431 ! GOSR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4431 {source="MONDO:mim2gene_medgen"} ! GOSR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -309935,7 +308358,6 @@ is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:614019"} ! lissencep is_a: MONDO:0700116 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! microcephaly with lissencephaly and/or hydranencephaly intersection_of: MONDO:0018838 ! lissencephaly spectrum disorders intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17619 ! NDE1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17619 {source="MONDO:mim2gene_medgen"} ! NDE1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -309959,8 +308381,8 @@ xref: OMIM:614020 {source="MONDO:equivalentTo"} xref: UMLS:C3151462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462812"} is_a: MONDO:0019502 {source="DC-OMIM:614020", source="DOID:0081188", source="MONDO:Redundant", source="OMIM:614020"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4551 ! TECR -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4551 {source="MONDO:mim2gene_medgen"} ! TECR +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4551 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4551 {source="OMIM:614020"} [Term] id: MONDO:0013529 @@ -309985,8 +308407,8 @@ xref: Orphanet:3286 {source="OMIM:614021"} xref: UMLS:C3151463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462813"} is_a: MONDO:0017990 {source="DC-OMIM:614021", source="DOID:0060677", source="MONDO:Redundant", source="OMIM:614021"} ! catecholaminergic polymorphic ventricular tachycardia intersection_of: MONDO:0017990 ! catecholaminergic polymorphic ventricular tachycardia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27365 ! TECRL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27365 {source="MONDO:mim2gene_medgen"} ! TECRL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27365 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27365 {source="OMIM:614021"} [Term] id: MONDO:0013530 @@ -310008,7 +308430,6 @@ xref: UMLS:C3151464 {source="MEDGEN:462814", source="MONDO:equivalentTo", source is_a: MONDO:0018054 {source="DC-OMIM:614022", source="MONDO:Redundant", source="OMIM:614022"} ! familial atrial fibrillation intersection_of: MONDO:0018054 ! familial atrial fibrillation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 ! SCN5A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 {source="MONDO:mim2gene_medgen"} ! SCN5A [Term] id: MONDO:0013531 @@ -310034,7 +308455,7 @@ xref: SCTID:124432005 {source="MONDO:equivalentTo"} xref: UMLS:C1291463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452940"} is_a: MONDO:0018162 {source="Orphanet:79350"} ! neurometabolic disorder due to serine deficiency relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:79350", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9577 {source="MONDO:mim2gene_medgen"} ! PSPH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9577 {source="OMIM:614023"} [Term] id: MONDO:0013532 @@ -310046,7 +308467,7 @@ xref: MEDGEN:462815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614024 {source="MONDO:equivalentTo"} xref: UMLS:C3151465 {source="MEDGEN:462815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9460 {source="MONDO:mim2gene_medgen"} ! PROZ +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9460 {source="OMIM:614024"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -310074,7 +308495,6 @@ xref: Orphanet:140905 {source="OMIM:614025", source="MONDO:equivalentTo"} xref: SCTID:720940008 {source="MONDO:equivalentTo"} xref: UMLS:C3151466 {source="MEDGEN:462816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015903 {source="Orphanet:140905"} ! hyperalphalipoproteinemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6619 {source="MONDO:mim2gene_medgen"} ! LIPC [Term] id: MONDO:0013534 @@ -310091,7 +308511,7 @@ xref: OMIM:614028 {source="MONDO:equivalentTo"} xref: Orphanet:79506 {source="OMIM:614028"} xref: UMLS:C3151467 {source="MEDGEN:462817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019052 {source="https://orcid.org/0000-0002-6601-2165"} ! inborn errors of metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/610 {source="MONDO:mim2gene_medgen"} ! APOC3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/610 {source="OMIM:614028"} [Term] id: MONDO:0013535 @@ -310104,7 +308524,6 @@ xref: MESH:C564215 {source="MONDO:equivalentTo"} xref: OMIM:614033 {source="MONDO:equivalentTo"} xref: UMLS:C3279657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481287"} is_a: MONDO:0003847 {source="MESH:C564215/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4805 {source="MONDO:mim2gene_medgen"} ! HAGH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -310127,7 +308546,6 @@ xref: Orphanet:562509 {source="MONDO:equivalentTo"} xref: UMLS:C1841651 {source="MEDGEN:333882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0017754 {source="Orphanet:562509"} ! inborn disorder of porphyrin metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5013 {source="MONDO:mim2gene_medgen"} ! HMOX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -310155,8 +308573,8 @@ xref: Orphanet:90636 {source="OMIM:614035"} xref: UMLS:C3279660 {source="MEDGEN:481290", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:614035", source="DOID:0110487", source="MONDO:Redundant", source="OMIM:614035"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2035 ! CLDN14 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2035 {source="MONDO:mim2gene_medgen"} ! CLDN14 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2035 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2035 {source="OMIM:614035"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -310192,7 +308610,6 @@ xref: Orphanet:79507 {source="OMIM:614037", source="MONDO:equivalentTo"} xref: SCTID:717185008 {source="MONDO:equivalentTo"} xref: UMLS:C3279662 {source="MEDGEN:481292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6719 {source="MONDO:mim2gene_medgen"} ! LTC4S [Term] id: MONDO:0013540 @@ -310217,7 +308634,6 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0042982 {source="https://github.com/monarch-initiative/mondo/issues/261"} ! GATA2 deficiency with susceptibility to MDS/AML -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4171 {source="MONDO:mim2gene_medgen"} ! GATA2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13030/deafness-lymphedema-leukemia-syndrome" xsd:anyURI {source="GARD:0013030"} @@ -310249,7 +308665,6 @@ xref: UMLS:C3808397 {source="MONDO:equivalentTo", source="MEDGEN:814727", source is_a: MONDO:0000904 {source="DOID:0090137", source="MONDO:Redundant", source="OMIM:614039"} ! complex cortical dysplasia with other brain malformations intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20772 ! TUBB3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20772 {source="MONDO:mim2gene_medgen"} ! TUBB3 [Term] id: MONDO:0013542 @@ -310271,7 +308686,6 @@ xref: UMLS:C3279690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016820 {source="DC-OMIM:614042", source="MONDO:Redundant", source="OMIM:614042"} ! Moyamoya disease intersection_of: MONDO:0016820 ! Moyamoya disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/130 ! ACTA2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/130 {source="MONDO:mim2gene_medgen"} ! ACTA2 [Term] id: MONDO:0013543 @@ -310284,7 +308698,6 @@ xref: OMIM:614044 {source="MONDO:equivalentTo"} xref: SCTID:190953007 {source="MONDO:equivalentTo"} xref: UMLS:C0268417 {source="MEDGEN:450540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9475 {source="MONDO:mim2gene_medgen"} ! PRSS1 [Term] id: MONDO:0013544 @@ -310305,7 +308718,6 @@ xref: UMLS:C3279693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018054 {source="DC-OMIM:614049", source="MONDO:Redundant", source="OMIM:614049"} ! familial atrial fibrillation intersection_of: MONDO:0018054 ! familial atrial fibrillation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4279 ! GJA5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4279 {source="MONDO:mim2gene_medgen"} ! GJA5 [Term] id: MONDO:0013545 @@ -310326,7 +308738,6 @@ xref: UMLS:C3279695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018054 {source="DC-OMIM:614050", source="MONDO:Redundant", source="OMIM:614050"} ! familial atrial fibrillation intersection_of: MONDO:0018054 ! familial atrial fibrillation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/60 ! ABCC9 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/60 {source="MONDO:mim2gene_medgen"} ! ABCC9 [Term] id: MONDO:0013546 @@ -310361,7 +308772,7 @@ xref: SCTID:718212006 {source="MONDO:equivalentTo"} xref: UMLS:C3279699 {source="MEDGEN:481329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000066 {source="DC-OMIM:614052"} ! mitochondrial complex deficiency is_a: MONDO:0044970 ! mitochondrial disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26050 {source="MONDO:mim2gene_medgen"} ! TMEM70 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26050 {source="OMIM:614052"} [Term] id: MONDO:0013547 @@ -310385,8 +308796,8 @@ xref: UMLS:C3279708 {source="MEDGEN:481338", source="MONDO:equivalentTo", source is_a: MONDO:0000066 {source="DC-OMIM:614053"} ! mitochondrial complex deficiency is_a: MONDO:0014471 {source="DOID:0060332", source="OMIM:614053", source="Orphanet:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/838 ! ATP5F1E -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/838 {source="MONDO:mim2gene_medgen"} ! ATP5F1E +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/838 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/838 {source="OMIM:614053"} [Term] id: MONDO:0013548 @@ -310408,7 +308819,6 @@ xref: OMIM:614055 {source="MONDO:equivalentTo"} xref: UMLS:C0342735 {source="MEDGEN:90995", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="MESH:C536005/inferred"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013548 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/94 {source="MONDO:mim2gene_medgen"} ! ACAT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9154/acetyl-coa-acetyltransferase-2-deficiency" xsd:anyURI {source="GARD:0009154"} @@ -310426,7 +308836,7 @@ xref: OMIM:614063 {source="MONDO:equivalentTo"} xref: UMLS:C3279716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481346"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013549 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26742 {source="MONDO:mim2gene_medgen"} ! NAT8L +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26742 {source="OMIM:614063"} [Term] id: MONDO:0013550 @@ -310453,7 +308863,6 @@ xref: SCTID:733489002 {source="MONDO:equivalentTo"} xref: UMLS:C3279722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481352"} is_a: MONDO:0016108 {source="Orphanet:63273"} ! autosomal dominant distal myopathy is_a: MONDO:0018949 {source="DC-OMIM:614065", source="MONDO:Redundant", source="Orphanet:63273/inferred"} ! distal myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3756 {source="MONDO:mim2gene_medgen"} ! FLNC [Term] id: MONDO:0013551 @@ -310485,8 +308894,8 @@ xref: Orphanet:280763 {source="DOID:0110799", source="OMIM:614066"} xref: UMLS:C3279738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481368"} is_a: MONDO:0019064 {source="DOID:0110799", source="MONDO:Redundant", source="OMIM:614066"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/572 ! AP4B1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/572 {source="MONDO:mim2gene_medgen"} ! AP4B1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/572 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/572 {source="OMIM:614066"} [Term] id: MONDO:0013552 @@ -310517,8 +308926,8 @@ xref: Orphanet:280763 {source="DOID:0110804", source="OMIM:614067"} xref: UMLS:C3279743 {source="MEDGEN:481373", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019064 {source="DOID:0110804", source="MONDO:Redundant", source="OMIM:614067"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/575 ! AP4S1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/575 {source="MONDO:mim2gene_medgen"} ! AP4S1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/575 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/575 {source="OMIM:614067"} [Term] id: MONDO:0013553 @@ -310543,9 +308952,9 @@ xref: Orphanet:2268 {source="OMIM:614069"} xref: UMLS:C3279748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481378"} is_a: MONDO:0000133 {source="DC-OMIM:614069", source="DOID:0090009", source="MONDO:Redundant", source="OMIM:614069"} ! immunodeficiency-centromeric instability-facial anomalies syndrome intersection_of: MONDO:0000133 ! immunodeficiency-centromeric instability-facial anomalies syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21143 ! ZBTB24 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21143 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614069"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21143 {source="MONDO:mim2gene_medgen"} ! ZBTB24 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21143 {source="OMIM:614069"} [Term] id: MONDO:0013554 @@ -310566,7 +308975,6 @@ is_a: MONDO:0100171 {source="OMIM:614070"} ! psoriasis, susceptibility to intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1343 ! TRAF3IP2 intersection_of: predisposes_towards MONDO:0005083 ! psoriasis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1343 {source="MONDO:mim2gene_medgen"} ! TRAF3IP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -310593,9 +309001,9 @@ xref: UMLS:C3888001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016502 {source="Orphanet:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis is_a: MONDO:0019312 {source="DOID:0060541", source="MONDO:Redundant", source="OMIM:614072"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15597 ! HPS3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15597 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013555 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15597 {source="MONDO:mim2gene_medgen"} ! HPS3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15597 {source="OMIM:614072"} [Term] id: MONDO:0013556 @@ -310620,9 +309028,9 @@ xref: UMLS:C3484357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016501 {source="Orphanet:231500/btnt"} ! Hermansky-Pudlak syndrome with pulmonary fibrosis is_a: MONDO:0019312 {source="DOID:0060542", source="MONDO:Redundant", source="OMIM:614073"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15844 ! HPS4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15844 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013556 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15844 {source="MONDO:mim2gene_medgen"} ! HPS4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15844 {source="OMIM:614073"} [Term] id: MONDO:0013557 @@ -310647,9 +309055,9 @@ xref: UMLS:C3888004 {source="MEDGEN:854711", source="MONDO:equivalentTo", source is_a: MONDO:0016502 {source="Orphanet:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis is_a: MONDO:0019312 {source="DOID:0060543", source="MONDO:Redundant", source="OMIM:614074"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17022 ! HPS5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17022 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013557 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17022 {source="MONDO:mim2gene_medgen"} ! HPS5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17022 {source="OMIM:614074"} [Term] id: MONDO:0013558 @@ -310675,9 +309083,9 @@ xref: UMLS:C3888007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016502 {source="Orphanet:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis is_a: MONDO:0019312 {source="DOID:0060544", source="MONDO:Redundant", source="NCIT:C150369", source="OMIM:614075"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18817 ! HPS6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18817 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013558 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18817 {source="MONDO:mim2gene_medgen"} ! HPS6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18817 {source="OMIM:614075"} [Term] id: MONDO:0013559 @@ -310704,9 +309112,9 @@ xref: Orphanet:79430 {source="OMIM:614076"} xref: UMLS:C3279756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481386"} is_a: MONDO:0019312 {source="DC-OMIM:614076", source="DOID:0060545", source="MONDO:Redundant", source="OMIM:614076", source="Orphanet:231531"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17328 ! DTNBP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17328 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013559 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17328 {source="MONDO:mim2gene_medgen"} ! DTNBP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17328 {source="OMIM:614076"} [Term] id: MONDO:0013560 @@ -310732,9 +309140,9 @@ xref: Orphanet:79430 {source="OMIM:614077"} xref: UMLS:C3888026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854728"} is_a: MONDO:0019312 {source="DC-OMIM:614077", source="DOID:0060546", source="MONDO:Redundant", source="OMIM:614077", source="Orphanet:231537"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20914 ! BLOC1S3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20914 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013560 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20914 {source="MONDO:mim2gene_medgen"} ! BLOC1S3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20914 {source="OMIM:614077"} [Term] id: MONDO:0013561 @@ -310758,7 +309166,7 @@ is_a: MONDO:0000226 {source="PMID:33340416", source="https://orcid.org/0000-0002 is_a: MONDO:0002081 {source="GARD:0011009"} ! musculoskeletal system disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:280586", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26019 {source="MONDO:mim2gene_medgen"} ! BPNT2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26019 {source="OMIM:614078"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6759" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -310775,7 +309183,7 @@ xref: Orphanet:1163 {source="OMIM:614079"} xref: UMLS:C3279774 {source="MEDGEN:481404", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0005657 ! aspergillosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14558 {source="MONDO:mim2gene_medgen"} ! CLEC7A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24355 {source="OMIM:614079"} [Term] id: MONDO:0013563 @@ -310814,10 +309222,10 @@ is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017748 {source="Orphanet:280633"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation is_a: MONDO:0100247 {source="DOID:0080138", source="MONDO:Redundant", source="OMIM:614080", source="Orphanet:280633"} ! multiple congenital anomalies-hypotonia-seizures syndrome intersection_of: MONDO:0100247 ! multiple congenital anomalies-hypotonia-seizures syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8967 ! PIGN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8967 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013563 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8967 {source="MONDO:mim2gene_medgen"} ! PIGN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8967 {source="OMIM:614080"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4804" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5965" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5996" xsd:anyURI @@ -310835,7 +309243,6 @@ xref: MEDGEN:481416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614081 {source="MONDO:equivalentTo"} xref: UMLS:C3279786 {source="MEDGEN:481416", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5141 {source="MONDO:mim2gene_medgen"} ! HP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -310860,7 +309267,7 @@ xref: OMIM:614082 {source="MONDO:equivalentTo", source="DOID:0111086"} xref: UMLS:C3469527 {source="MEDGEN:854017", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019391 {source="DC-OMIM:614082", source="DOID:0111086", source="EFO:0009046", source="NCIT:C125708", source="OMIM:614082"} ! Fanconi anemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013565 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3588 {source="MONDO:mim2gene_medgen"} ! FANCG +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3588 {source="OMIM:614082"} [Term] id: MONDO:0013566 @@ -310889,9 +309296,9 @@ xref: OMIM:614083 {source="DOID:0111082", source="MONDO:equivalentTo"} xref: UMLS:C3469528 {source="MEDGEN:854018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019391 {source="DC-OMIM:614083", source="DOID:0111082", source="MONDO:Redundant", source="OMIM:614083"} ! Fanconi anemia intersection_of: MONDO:0019391 ! Fanconi anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20748 ! FANCL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20748 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013566 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20748 {source="MONDO:mim2gene_medgen"} ! FANCL +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20748 {source="OMIM:614083"} [Term] id: MONDO:0013567 @@ -310917,7 +309324,6 @@ xref: UMLS:C3279790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0006664 {source="DC-OMIM:614089", source="DOID:0110108", source="MESH:C563540", source="MONDO:Redundant", source="OMIM:614089"} ! atrial septal defect intersection_of: MONDO:0006664 ! atrial septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 ! MYH6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 {source="MONDO:mim2gene_medgen"} ! MYH6 [Term] id: MONDO:0013568 @@ -310937,7 +309343,6 @@ xref: UMLS:C3279791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 ! MYH6 intersection_of: predisposes_towards MONDO:0001823 ! sick sinus syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 {source="MONDO:mim2gene_medgen"} ! MYH6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -310970,7 +309375,6 @@ is_a: MONDO:0018770 {source="DOID:0110090", source="OMIM:614091"} ! Jeune syndro is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013569 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0013127 {source="Orphanet:93271/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! asphyxiating thoracic dystrophy 3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29250 {source="MONDO:mim2gene_medgen"} ! WDR35 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -311000,7 +309404,6 @@ is_a: MONDO:0000732 {source="DC-OMIM:614096", source="DOID:0111479", source="MON is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21022 ! AARS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21022 {source="MONDO:mim2gene_medgen"} ! AARS2 [Term] id: MONDO:0013571 @@ -311036,7 +309439,7 @@ xref: UMLS:C0268419 {source="MEDGEN:75679", source="MONDO:equivalentTo", source= is_a: MONDO:0100306 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of defective peroxisome oxidative status relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013571 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0017753 {source="Orphanet:926", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1516 {source="MONDO:mim2gene_medgen"} ! CAT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1516 {source="OMIM:614097"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -311061,7 +309464,7 @@ xref: OMIM:614098 {source="MONDO:equivalentTo", source="Orphanet:435628", source xref: Orphanet:435628 {source="MONDO:equivalentTo"} xref: UMLS:C3279800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481430"} is_a: MONDO:0020087 {source="Orphanet:435628"} ! hereditary lipodystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6267 {source="MONDO:mim2gene_medgen"} ! KCNJ6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6267 {source="OMIM:614098"} [Term] id: MONDO:0013573 @@ -311086,7 +309489,6 @@ is_a: MONDO:0009032 {source="DOID:0080805", source="MONDO:Redundant", source="OM intersection_of: MONDO:0009032 ! cranioectodermal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29669 ! IFT43 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614099"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29669 {source="MONDO:mim2gene_medgen"} ! IFT43 [Term] id: MONDO:0013574 @@ -311118,7 +309520,6 @@ xref: MEDGEN:436433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614101 {source="MONDO:equivalentTo"} xref: UMLS:C2675436 {source="MEDGEN:436433", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3778 {source="MONDO:mim2gene_medgen"} ! FN1 [Term] id: MONDO:0013576 @@ -311151,7 +309552,7 @@ is_a: MONDO:0003778 {source="PMID:11941303", source="https://orcid.org/0000-0001 is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013576 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5716 {source="MONDO:mim2gene_medgen"} ! IGKC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5716 {source="OMIM:614102"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -311205,7 +309606,7 @@ is_a: MONDO:0015159 {source="Orphanet:464306"} ! multiple congenital anomalies/d is_a: MONDO:0100172 {source="OMIM:614104"} ! intellectual disability, autosomal dominant relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070037", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3091 {source="MONDO:mim2gene_medgen"} ! DYRK1A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3091 {source="OMIM:614104"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -311235,7 +309636,7 @@ xref: UMLS:C3279840 {source="MEDGEN:481470", source="MONDO:equivalentTo", source is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria is_a: MONDO:0019242 {source="Orphanet:289307"} ! inborn disorder of branched-chain amino acid metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013579 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7179 {source="MONDO:mim2gene_medgen"} ! ALDH6A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7179 {source="OMIM:614105"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -311260,7 +309661,7 @@ xref: Orphanet:255138 {source="MONDO:equivalentTo", source="OMIM:614111"} xref: Orphanet:765 {source="OMIM:614111"} xref: UMLS:C3279841 {source="MONDO:equivalentTo", source="MEDGEN:481471", source="MONDO:MEDGEN"} is_a: MONDO:0019169 {source="DC-OMIM:614111", source="OMIM:614111", source="Orphanet:255138"} ! pyruvate dehydrogenase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8808 {source="MONDO:mim2gene_medgen"} ! PDHB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8808 {source="OMIM:614111"} [Term] id: MONDO:0013581 @@ -311287,7 +309688,6 @@ is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614113"} ! intellect intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19191 ! DOCK8 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19191 {source="MONDO:mim2gene_medgen"} ! DOCK8 [Term] id: MONDO:0013582 @@ -311314,10 +309714,10 @@ xref: UMLS:C3279843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000141 {source="DOID:0080142", source="MONDO:Redundant", source="OMIM:614114"} ! mosaic variegated aneuploidy syndrome is_a: MONDO:0019040 {source="MONDO:Redundant", source="Orphanet:1052"} ! chromosomal disorder intersection_of: MONDO:0000141 ! mosaic variegated aneuploidy syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30794 ! CEP57 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30794 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013582 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30794 {source="MONDO:mim2gene_medgen"} ! CEP57 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30794 {source="OMIM:614114"} [Term] id: MONDO:0013583 @@ -311340,7 +309740,7 @@ xref: OMIM:614115 {source="Orphanet:280640/e", source="MONDO:equivalentTo", sour xref: Orphanet:280640 {source="OMIM:614115", source="MONDO:equivalentTo"} xref: UMLS:C3279875 {source="MEDGEN:481505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6494 {source="MONDO:mim2gene_medgen"} ! LAMC3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6494 {source="OMIM:614115"} [Term] id: MONDO:0013584 @@ -311380,7 +309780,6 @@ is_a: MONDO:0015364 {source="DOID:0070158", source="MESH:C580162", source="OMIM: is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:456318", source="Orphanet:456318/inferred"} ! hereditary dementia is_a: MONDO:0018213 {source="https://orcid.org/0000-0002-6601-2165"} ! hereditary sensory and autonomic neuropathy type 1 is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:456318", source="Orphanet:456318/inferred"} ! inherited neurodegenerative disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2976 {source="MONDO:mim2gene_medgen"} ! DNMT1 [Term] id: MONDO:0013585 @@ -311406,7 +309805,6 @@ is_a: MONDO:0800463 {source="PMID:21552264", source="PMID:230301500", source="ht intersection_of: MONDO:0006037 ! hydrolethalus syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30497 ! KIF7 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614120"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30497 {source="MONDO:mim2gene_medgen"} ! KIF7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI [Term] @@ -311418,6 +309816,7 @@ synonym: "CHITOTRIOSIDASE deficiency" RELATED [OMIM:614122] synonym: "Chitotriosidase deficiency" EXACT [MONDO:Lexical, OMIM:614122] synonym: "chitotriosidase deficiency" EXACT [OMIM:614122, OMIM:genemap2] xref: OMIM:614122 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1936 {source="OMIM:614122"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -311451,7 +309850,7 @@ xref: UMLS:C3279904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016527 {source="Orphanet:284435"} ! glycogen storage disease due to lactate dehydrogenase deficiency is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6541 {source="MONDO:mim2gene_medgen"} ! LDHB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6541 {source="OMIM:614128"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3161/lactate-dehydrogenase-b-deficiency" xsd:anyURI {source="GARD:0003161"} @@ -311479,10 +309878,10 @@ xref: Orphanet:2855 {source="OMIM:614129"} xref: UMLS:C3808414 {source="MEDGEN:814744", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017312 {source="DC-OMIM:614129", source="MONDO:Redundant", source="OMIM:614129"} ! Perrault syndrome intersection_of: MONDO:0017312 ! Perrault syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2084 ! CLPP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2084 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013588 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614129"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2084 {source="MONDO:mim2gene_medgen"} ! CLPP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2084 {source="OMIM:614129"} [Term] id: MONDO:0013589 @@ -311506,8 +309905,8 @@ xref: Orphanet:656 {source="MONDO:relatedTo", source="OMIM:614131"} xref: UMLS:C3279905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481535"} is_a: MONDO:0005363 {source="DC-OMIM:614131", source="DOID:0111131", source="MONDO:Redundant", source="OMIM:614131"} ! inherited focal segmental glomerulosclerosis intersection_of: MONDO:0005363 ! inherited focal segmental glomerulosclerosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7599 ! MYO1E -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7599 {source="MONDO:mim2gene_medgen"} ! MYO1E +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7599 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7599 {source="OMIM:614131"} [Term] id: MONDO:0013590 @@ -311527,7 +309926,6 @@ xref: Orphanet:250984 {source="OMIM:614134"} xref: Orphanet:828 {source="OMIM:614134"} xref: UMLS:C3279941 {source="MEDGEN:481571", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019354 {source="MONDO:Redundant", source="OMIM:614134"} ! Stickler syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2217 {source="MONDO:mim2gene_medgen"} ! COL9A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -311553,7 +309951,6 @@ is_a: MONDO:0015627 {source="DOID:0070301", source="Orphanet:166002/btnt"} ! mul is_a: MONDO:0016648 {source="MONDO:Redundant", source="OMIM:614135"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2217 ! COL9A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2217 {source="MONDO:mim2gene_medgen"} ! COL9A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13376/multiple-epiphyseal-dysplasia-6" xsd:anyURI {source="GARD:0013376"} @@ -311606,8 +310003,8 @@ xref: OMIM:614152 {source="MONDO:equivalentTo", source="DOID:0110585"} xref: UMLS:C3279948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481578"} is_a: MONDO:0019587 {source="DC-OMIM:614152", source="DOID:0110585", source="MONDO:Redundant", source="OMIM:614152"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21528 ! DIABLO -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21528 {source="MONDO:mim2gene_medgen"} ! DIABLO +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21528 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21528 {source="OMIM:614152"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -311637,7 +310034,7 @@ xref: Orphanet:276198 {source="MONDO:equivalentTo", source="OMIM:614153"} xref: SCTID:711158005 {source="MONDO:equivalentTo"} xref: UMLS:C3472711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483339"} is_a: MONDO:0019792 {source="Orphanet:276198"} ! autosomal dominant cerebellar ataxia type I -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15911 {source="MONDO:mim2gene_medgen"} ! NOP56 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15911 {source="OMIM:614153"} [Term] id: MONDO:0013595 @@ -311659,7 +310056,7 @@ xref: OMIM:614156 {source="Orphanet:276405/e", source="MONDO:equivalentTo", sour xref: Orphanet:276405 {source="OMIM:614156", source="MONDO:equivalentTo"} xref: UMLS:C3279964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481594"} is_a: MONDO:0005154 {source="Orphanet:276405"} ! liver disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1062 {source="MONDO:mim2gene_medgen"} ! BLVRA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1062 {source="OMIM:614156"} [Term] id: MONDO:0013596 @@ -311693,7 +310090,6 @@ is_a: MONDO:0001531 {source="DOID:0111047", source="MONDO:Redundant"} ! blood co is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11609 ! TBXAS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11609 {source="MONDO:mim2gene_medgen"} ! TBXAS1 [Term] id: MONDO:0013598 @@ -311713,7 +310109,7 @@ xref: SCTID:699185005 {source="MONDO:equivalentTo"} xref: UMLS:C2931112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:418994"} is_a: MONDO:0003847 {source="Orphanet:275534"} ! hereditary disease is_a: MONDO:0003939 {source="DOID:0111072"} ! muscle tissue disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4223 {source="MONDO:mim2gene_medgen"} ! MSTN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4223 {source="OMIM:614160"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy" xsd:anyURI {source="GARD:0010238"} [Term] @@ -311749,7 +310145,6 @@ is_a: MONDO:0015279 {source="OMIM:614162"} ! chronic mucocutaneous candidiasis is_a: MONDO:0019787 {source="Orphanet:391487"} ! autoimmune enteropathy intersection_of: MONDO:0015279 ! chronic mucocutaneous candidiasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11362 ! STAT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11362 {source="MONDO:mim2gene_medgen"} ! STAT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -311796,7 +310191,6 @@ xref: UMLS:C0398747 {source="MEDGEN:473098", source="MONDO:equivalentTo", source is_a: MONDO:0019052 ! inborn errors of metabolism is_a: MONDO:0024626 ! defective phagocytic cell engulfment relationship: disease_has_basis_in_disruption_of GO:0004602 ! glutathione peroxidase activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4553 {source="MONDO:mim2gene_medgen"} ! GPX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -311821,7 +310215,6 @@ is_a: MONDO:0006295 {source="MONDO:Redundant"} ! malignant urinary system neopla is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma intersection_of: MONDO:0000448 ! paraganglioma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10680 ! SDHA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10680 {source="MONDO:mim2gene_medgen"} ! SDHA [Term] id: MONDO:0013603 @@ -311848,8 +310241,8 @@ xref: UMLS:C3279997 {source="MEDGEN:481627", source="MONDO:equivalentTo", source is_a: MONDO:0001384 {source="DC-OMIM:614167", source="MONDO:Redundant", source="OMIM:614167"} ! myopia is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0001384 ! myopia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29222 ! ZNF644 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29222 {source="MONDO:mim2gene_medgen"} ! ZNF644 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29222 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29222 {source="OMIM:614167"} [Term] id: MONDO:0013605 @@ -311871,9 +310264,9 @@ xref: Orphanet:90354 {source="OMIM:614170"} xref: UMLS:C3280011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481641"} is_a: MONDO:0009242 {source="MONDO:Redundant", source="OMIM:614170", source="Orphanet:90354/btnt"} ! brittle cornea syndrome intersection_of: MONDO:0009242 ! brittle cornea syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9349 ! PRDM5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9349 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614170"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9349 {source="MONDO:mim2gene_medgen"} ! PRDM5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9349 {source="OMIM:614170"} [Term] id: MONDO:0013606 @@ -311900,9 +310293,9 @@ xref: UMLS:C3280026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis is_a: MONDO:0019312 {source="DC-OMIM:614171", source="DOID:0060547", source="MONDO:Redundant", source="OMIM:614171", source="Orphanet:280663"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8549 ! BLOC1S6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8549 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013606 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8549 {source="MONDO:mim2gene_medgen"} ! BLOC1S6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8549 {source="OMIM:614171"} [Term] id: MONDO:0013607 @@ -311937,7 +310330,6 @@ xref: OMIM:614172 {source="Orphanet:228423/e", source="MONDO:equivalentTo", sour xref: Orphanet:228423 {source="MONDO:equivalentTo", source="OMIM:614172"} xref: UMLS:C3280030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481660"} is_a: MONDO:0042982 {source="https://github.com/monarch-initiative/mondo/issues/261"} ! GATA2 deficiency with susceptibility to MDS/AML -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4171 {source="MONDO:mim2gene_medgen"} ! GATA2 [Term] id: MONDO:0013608 @@ -311959,8 +310351,8 @@ xref: Orphanet:475 {source="OMIM:614173"} xref: UMLS:C3280031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481661"} is_a: MONDO:0018772 {source="DC-OMIM:614173", source="DOID:0110982", source="MONDO:Redundant", source="OMIM:614173"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26113 ! TCTN1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26113 {source="MONDO:mim2gene_medgen"} ! TCTN1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26113 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26113 {source="OMIM:614173"} [Term] id: MONDO:0013609 @@ -311984,7 +310376,6 @@ xref: UMLS:C3280036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018921 {source="DC-OMIM:614175", source="MONDO:Redundant", source="OMIM:614175"} ! Meckel syndrome intersection_of: MONDO:0018921 ! Meckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28636 ! B9D2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28636 {source="MONDO:mim2gene_medgen"} ! B9D2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -312006,7 +310397,6 @@ xref: MEDGEN:481671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614180 {source="MONDO:equivalentTo", source="DOID:0110373"} xref: UMLS:C3280041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481671"} is_a: MONDO:0019200 {source="DC-OMIM:614180", source="DOID:0110373", source="MONDO:Redundant", source="OMIM:614180"} ! retinitis pigmentosa -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12605 {source="MONDO:mim2gene_medgen"} ! CLRN1 [Term] id: MONDO:0013611 @@ -312029,9 +310419,9 @@ xref: UMLS:C3280042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:614181", source="DOID:0110380", source="MONDO:Redundant", source="OMIM:614181"} ! retinitis pigmentosa is_a: MONDO:0700229 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! MAK-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6816 ! MAK +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6816 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6816 {source="MONDO:mim2gene_medgen"} ! MAK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6816 {source="OMIM:614181"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -312057,7 +310447,6 @@ is_a: MONDO:0000127 {source="DC-OMIM:614185", source="DOID:0111726", source="MON is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia intersection_of: MONDO:0000127 ! geleophysic dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 ! FBN1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -312082,7 +310471,6 @@ xref: UMLS:C3280062 {source="MEDGEN:481692", source="MONDO:equivalentTo", source is_a: MONDO:0018998 {source="DC-OMIM:614186", source="DOID:0110118", source="MONDO:Redundant", source="OMIM:614186"} ! Leber congenital amaurosis intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6259 ! KCNJ13 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6259 {source="MONDO:mim2gene_medgen"} ! KCNJ13 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10885/leber-congenital-amaurosis-16" xsd:anyURI {source="GARD:0010885"} [Term] @@ -312126,7 +310514,7 @@ xref: Orphanet:284149 {source="MONDO:equivalentTo", source="OMIM:614188"} xref: UMLS:C3280073 {source="MEDGEN:481703", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015338 {source="Orphanet:284149"} ! syndromic craniosynostosis is_a: MONDO:0015469 {source="PMID:30811827", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5967 {source="MONDO:mim2gene_medgen"} ! IL11RA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5967 {source="OMIM:614188"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI [Term] @@ -312150,7 +310538,6 @@ xref: UMLS:C3280094 {source="MEDGEN:481724", source="MONDO:equivalentTo", source is_a: MONDO:0015999 {source="DC-OMIM:614190", source="MONDO:Redundant", source="OMIM:614190"} ! primary pigmented nodular adrenocortical disease intersection_of: MONDO:0015999 ! primary pigmented nodular adrenocortical disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8794 ! PDE8B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8794 {source="MONDO:mim2gene_medgen"} ! PDE8B [Term] id: MONDO:0013617 @@ -312171,7 +310558,6 @@ xref: MEDGEN:481729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614195 {source="MONDO:equivalentTo"} xref: UMLS:C3280099 {source="MONDO:equivalentTo", source="MEDGEN:481729", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12723 {source="MONDO:mim2gene_medgen"} ! VSX1 [Term] id: MONDO:0013619 @@ -312192,8 +310578,8 @@ is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:614196"} ! familial is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:614196"} ! nephrotic syndrome is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9678 ! PTPRO -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9678 {source="MONDO:mim2gene_medgen"} ! PTPRO +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9678 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9678 {source="OMIM:614196"} [Term] id: MONDO:0013620 @@ -312223,7 +310609,6 @@ is_a: MONDO:0100121 {source="https://www.clinicalgenome.org/affiliation/40061/"} intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10591 ! SCN4A relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10591 {source="MONDO:mim2gene_medgen"} ! SCN4A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -312247,7 +310632,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005377 {source="DC-OMIM:614199", source="MONDO:0019987-obsoleted", source="MONDO:Redundant", source="OMIM:614199"} ! nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6487 ! LAMB2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6487 {source="MONDO:mim2gene_medgen"} ! LAMB2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7329" xsd:anyURI [Term] @@ -312280,7 +310664,6 @@ xref: UMLS:C3280114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000009 {source="DC-OMIM:614200", source="DOID:0111045", source="MONDO:Redundant", source="OMIM:614200"} ! inherited bleeding disorder, platelet-type intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6137 ! ITGA2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6137 {source="MONDO:mim2gene_medgen"} ! ITGA2 [Term] id: MONDO:0013623 @@ -312316,9 +310699,9 @@ xref: SCTID:765977002 {source="MONDO:equivalentTo"} xref: UMLS:C3280120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481750"} is_a: MONDO:0000009 {source="DC-OMIM:614201", source="DOID:0111057", source="MONDO:Redundant", source="OMIM:614201"} ! inherited bleeding disorder, platelet-type intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14388 ! GP6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14388 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013623 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14388 {source="MONDO:mim2gene_medgen"} ! GP6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14388 {source="OMIM:614201"} [Term] id: MONDO:0013624 @@ -312344,8 +310727,8 @@ xref: SCTID:154978008 {source="DOID:1059"} xref: UMLS:C3280127 {source="MEDGEN:481757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DC-OMIM:614202", source="DOID:0081097", source="MONDO:Redundant", source="OMIM:614202"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6823 ! MAN1B1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6823 {source="MONDO:mim2gene_medgen"} ! MAN1B1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6823 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6823 {source="OMIM:614202"} [Term] id: MONDO:0013625 @@ -312370,9 +310753,9 @@ xref: UMLS:C3280133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005180 {source="DOID:0060897/inferred", source="MONDO:Redundant", source="OMIM:614203"} ! Parkinson disease is_a: MONDO:0008199 {source="DOID:0060897", source="Orphanet:411602"} ! late-onset Parkinson disease intersection_of: MONDO:0005180 ! Parkinson disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13487 ! VPS35 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13487 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13487 {source="MONDO:mim2gene_medgen"} ! VPS35 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13487 {source="OMIM:614203"} [Term] id: MONDO:0013626 @@ -312422,9 +310805,9 @@ is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119057", source="Orphanet:404546/inferred", source="PMID:23827249"} ! autoinflammatory syndrome intersection_of: MONDO:0005083 ! psoriasis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15561 ! IL36RN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15561 relationship: excluded_subClassOf MONDO:0019299 {source="Orphanet:163931", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete unclassified genetic skin disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15561 {source="MONDO:mim2gene_medgen"} ! IL36RN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15561 {source="OMIM:614204"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2829" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4496" xsd:anyURI @@ -312450,9 +310833,9 @@ xref: UMLS:C3280146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0007477 {source="DC-OMIM:614205", source="MONDO:Redundant", source="OMIM:614205"} ! 3-M syndrome is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder intersection_of: MONDO:0007477 ! 3-M syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25367 ! CCDC8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25367 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614205"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25367 {source="MONDO:mim2gene_medgen"} ! CCDC8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25367 {source="OMIM:614205"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -312483,8 +310866,8 @@ xref: Orphanet:247262 {source="OMIM:614207"} xref: UMLS:C3280153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481783"} is_a: MONDO:0016596 {source="DOID:0070435", source="MONDO:Redundant", source="OMIM:614207", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17893 ! PGAP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17893 {source="MONDO:mim2gene_medgen"} ! PGAP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17893 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17893 {source="OMIM:614207"} [Term] id: MONDO:0013629 @@ -312521,7 +310904,6 @@ xref: UMLS:C3280155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018921 {source="DC-OMIM:614209", source="MONDO:Redundant", source="OMIM:614209"} ! Meckel syndrome intersection_of: MONDO:0018921 ! Meckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24123 ! B9D1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24123 {source="MONDO:mim2gene_medgen"} ! B9D1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -312583,7 +310965,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0000166 ! encephalopathy, acute, infection-induced relationship: excluded_subClassOf MONDO:0016991 {source="Orphanet:263524/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! acute necrotizing encephalopathy of childhood relationship: has_characteristic PATO:0000389 ! acute -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2330 {source="MONDO:mim2gene_medgen"} ! CPT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -312610,7 +310991,6 @@ is_a: MONDO:0019941 {source="DOID:0070147", source="MONDO:Redundant", source="Or is_a: MONDO:0700055 {source="https://orcid.org/0000-0002-8134-1207"} ! KIF1A related neurological disorder intersection_of: MONDO:0019941 ! hereditary sensory and autonomic neuropathy type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/888 ! KIF1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/888 {source="MONDO:mim2gene_medgen"} ! KIF1A [Term] id: MONDO:0013635 @@ -312632,8 +311012,8 @@ xref: UMLS:C3280182 {source="MEDGEN:481812", source="MONDO:equivalentTo", source is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:614219", source="Orphanet:974/btnt"} ! Adams-Oliver syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0007034 ! Adams-Oliver syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19189 ! DOCK6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19189 {source="MONDO:mim2gene_medgen"} ! DOCK6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19189 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19189 {source="OMIM:614219"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -312691,9 +311071,9 @@ xref: Orphanet:2510 {source="OMIM:614222"} xref: UMLS:C3280203 {source="MEDGEN:481833", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016649 {source="DC-OMIM:614222", source="DOID:0110718", source="MONDO:Redundant", source="OMIM:614222"} ! Warburg micro syndrome intersection_of: MONDO:0016649 ! Warburg micro syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14244 ! RAB18 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14244 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614222"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14244 {source="MONDO:mim2gene_medgen"} ! RAB18 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14244 {source="OMIM:614222"} [Term] id: MONDO:0013639 @@ -312736,7 +311116,7 @@ is_a: MONDO:0002311 {source="https://orcid.org/0000-0002-4142-7153"} ! retinal v is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0005328 {source="https://orcid.org/0000-0002-4142-7153"} ! eye disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5476 {source="MONDO:mim2gene_medgen"} ! IGFBP7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5476 {source="OMIM:614224"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -312766,7 +311146,6 @@ is_a: MONDO:0016649 {source="DC-OMIM:614225", source="DOID:0110717", source="MON intersection_of: MONDO:0016649 ! Warburg micro syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17168 ! RAB3GAP2 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614225"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17168 {source="MONDO:mim2gene_medgen"} ! RAB3GAP2 [Term] id: MONDO:0013642 @@ -312787,8 +311166,8 @@ xref: Orphanet:2162 {source="OMIM:614226"} xref: UMLS:C3280215 {source="MEDGEN:481845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016296 {source="DC-OMIM:614226", source="DOID:0110877", source="MONDO:Redundant", source="OMIM:614226"} ! holoprosencephaly intersection_of: MONDO:0016296 ! holoprosencephaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17104 ! CDON -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17104 {source="MONDO:mim2gene_medgen"} ! CDON +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17104 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17104 {source="OMIM:614226"} [Term] id: MONDO:0013643 @@ -312834,7 +311213,6 @@ is_a: MONDO:0018993 {source="DOID:0110175", source="Orphanet:284232"} ! Charcot- is_a: MONDO:1040031 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/40063/"} ! dyneinopathy intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 ! DYNC1H1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 {source="MONDO:mim2gene_medgen"} ! DYNC1H1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -312864,8 +311242,8 @@ xref: Orphanet:284271 {source="MONDO:equivalentTo", source="OMIM:614229"} xref: UMLS:C5190803 {source="MEDGEN:1681191", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020047 {source="MONDO:Redundant", source="Orphanet:284271"} ! autosomal recessive syndromic cerebellar ataxia intersection_of: MONDO:0020047 ! autosomal recessive syndromic cerebellar ataxia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23143 ! SYT14 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23143 {source="MONDO:mim2gene_medgen"} ! SYT14 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23143 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23143 {source="OMIM:614229"} [Term] id: MONDO:0013646 @@ -313001,8 +311379,8 @@ xref: OMIM:614249 {source="MONDO:equivalentTo"} xref: UMLS:C3280265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481895"} is_a: MONDO:0019502 {source="DC-OMIM:614249", source="DOID:0081190", source="MONDO:Redundant", source="OMIM:614249"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2372 ! MED23 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2372 {source="MONDO:mim2gene_medgen"} ! MED23 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2372 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2372 {source="OMIM:614249"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -313025,8 +311403,8 @@ xref: UMLS:C3280266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016158 {source="Orphanet:2073/btnt"} ! narcolepsy-cataplexy syndrome is_a: MONDO:0100554 {source="MONDO:Redundant", source="OMIM:614250"} ! hereditary narcolepsy intersection_of: MONDO:0021107 ! narcolepsy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7197 ! MOG -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7197 {source="MONDO:mim2gene_medgen"} ! MOG +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7197 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7197 {source="OMIM:614250"} [Term] id: MONDO:0013653 @@ -313045,9 +311423,9 @@ xref: Orphanet:411602 {source="OMIM:614251"} xref: UMLS:C3280271 {source="MEDGEN:481901", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:614251"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3296 ! EIF4G1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3296 intersection_of: predisposes_towards MONDO:0005180 ! Parkinson disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3296 {source="MONDO:mim2gene_medgen"} ! EIF4G1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3296 {source="OMIM:614251"} relationship: predisposes_towards MONDO:0008199 {source="MONDO:Redundant", source="Orphanet:411602/btnt"} ! late-onset Parkinson disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -313098,7 +311476,6 @@ is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614254"} ! intellect intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4584 ! GRIN1 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4584 {source="MONDO:mim2gene_medgen"} ! GRIN1 [Term] id: MONDO:0013656 @@ -313133,7 +311510,6 @@ is_a: MONDO:0700055 {source="https://orcid.org/0000-0002-8134-1207"} ! KIF1A rel intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/888 ! KIF1A relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/888 {source="MONDO:mim2gene_medgen"} ! KIF1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -313159,9 +311535,9 @@ xref: OMIM:614256 {source="MONDO:equivalentTo", source="DOID:0070040"} xref: UMLS:C3280284 {source="MEDGEN:481914", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614256"} ! intellectual disability, autosomal dominant intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1406 ! CACNG2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1406 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1406 {source="MONDO:mim2gene_medgen"} ! CACNG2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1406 {source="OMIM:614256"} [Term] id: MONDO:0013658 @@ -313187,9 +311563,9 @@ xref: OMIM:614257 {source="MONDO:equivalentTo", source="DOID:0070041"} xref: UMLS:C3280285 {source="MEDGEN:481915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614257"} ! intellectual disability, autosomal dominant intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3378 ! EPB41L1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3378 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3378 {source="MONDO:mim2gene_medgen"} ! EPB41L1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3378 {source="OMIM:614257"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -313218,7 +311594,7 @@ xref: UMLS:C3280296 {source="MEDGEN:481926", source="MONDO:equivalentTo", source is_a: MONDO:0002254 {source="Orphanet:294016"} ! syndromic disease relationship: disease_has_feature MONDO:0016231 ! capillary malformation relationship: excluded_subClassOf MONDO:0018719 {source="Orphanet:294016", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete obsolete rare capillary malformation with associated anomalies -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16950 {source="MONDO:mim2gene_medgen"} ! STAMBP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16950 {source="OMIM:614261"} [Term] id: MONDO:0013660 @@ -313230,7 +311606,6 @@ xref: MEDGEN:481939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614262 {source="MONDO:equivalentTo"} xref: UMLS:C3280309 {source="MEDGEN:481939", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18591 {source="MONDO:mim2gene_medgen"} ! NEK9 [Term] id: MONDO:0013661 @@ -313258,7 +311633,7 @@ xref: UMLS:C3280314 {source="MEDGEN:481944", source="MONDO:equivalentTo", source is_a: MONDO:0002012 {source="https://orcid.org/0000-0002-6601-2165"} ! methylmalonic acidemia is_a: MONDO:0019215 {source="Orphanet:289504"} ! classic organic aciduria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013661 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27288 {source="MONDO:mim2gene_medgen"} ! ACSF3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27288 {source="OMIM:614265"} [Term] id: MONDO:0013662 @@ -313319,7 +311694,7 @@ xref: MESH:C566640 {source="MONDO:equivalentTo"} xref: OMIM:614278 {source="MONDO:equivalentTo"} xref: UMLS:C3280315 {source="MEDGEN:481945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9040 {source="MONDO:mim2gene_medgen"} ! PLA2G7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9040 {source="OMIM:614278"} property_value: IAO:0000589 "platelet-activating factor acetylhydrolase deficiency (disease)" xsd:string [Term] @@ -313385,7 +311760,6 @@ xref: Orphanet:250984 {source="OMIM:614284"} xref: Orphanet:828 {source="OMIM:614284"} xref: UMLS:C3280342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481972"} is_a: MONDO:0019354 {source="MONDO:Redundant", source="OMIM:614284"} ! Stickler syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2218 {source="MONDO:mim2gene_medgen"} ! COL9A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -313443,10 +311817,10 @@ xref: Orphanet:145 {source="OMIM:614291"} xref: UMLS:C3280345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481975"} is_a: MONDO:0100526 {source="OMIM:614291"} ! breast-ovarian cancer, familial, susceptibility to intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9823 ! RAD51D +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9823 intersection_of: predisposes_towards MONDO:0003582 ! hereditary breast ovarian cancer syndrome relationship: excluded_subClassOf MONDO:0003582 {source="OMIM:614291", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary breast ovarian cancer syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9823 {source="MONDO:mim2gene_medgen"} ! RAD51D +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9823 {source="OMIM:614291"} [Term] id: MONDO:0013670 @@ -313462,7 +311836,7 @@ xref: OMIM:614292 {source="MONDO:equivalentTo"} xref: Orphanet:98619 {source="OMIM:614292"} xref: UMLS:C3280346 {source="MEDGEN:481976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001384 {source="Orphanet:98619/btnt"} ! myopia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19317 {source="MONDO:mim2gene_medgen"} ! P3H2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19317 {source="OMIM:614292"} [Term] id: MONDO:0013671 @@ -313486,9 +311860,9 @@ xref: UMLS:C3280352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016785 {source="MONDO:Redundant", source="Orphanet:254688/btnt"} ! complete hydatidiform mole is_a: MONDO:0018944 {source="DC-OMIM:614293"} ! gestational trophoblastic neoplasm intersection_of: MONDO:0016785 ! complete hydatidiform mole -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33699 ! KHDC3L +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33699 relationship: excluded_subClassOf MONDO:0005010 {source="https://orcid.org/0000-0001-5208-3432"} ! coronary artery disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33699 {source="MONDO:mim2gene_medgen"} ! KHDC3L +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33699 {source="OMIM:614293"} [Term] id: MONDO:0013672 @@ -313533,7 +311907,6 @@ xref: UMLS:C3280358 {source="MEDGEN:481988", source="MONDO:equivalentTo", source is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-5208-3432"} ! endocrine system disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013673 {source="MONDO:CLINGEN"} relationship: disease_has_feature MONDO:0005147 ! type 1 diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12762 {source="MONDO:mim2gene_medgen"} ! WFS1 [Term] id: MONDO:0013674 @@ -313569,7 +311942,6 @@ xref: UMLS:C3280371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018307 {source="DC-OMIM:614298", source="DOID:0110738", source="MONDO:Redundant", source="OMIM:614298", source="Orphanet:289560"} ! neurodegeneration with brain iron accumulation intersection_of: MONDO:0018307 ! neurodegeneration with brain iron accumulation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25443 ! C19orf12 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25443 {source="MONDO:mim2gene_medgen"} ! C19orf12 [Term] id: MONDO:0013675 @@ -313598,8 +311970,8 @@ xref: Orphanet:401874 {source="OMIM:614299", source="MONDO:equivalentTo"} xref: UMLS:C3280378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482008"} is_a: MONDO:0017338 {source="DOID:0080134", source="MONDO:Redundant", source="OMIM:614299", source="Orphanet:401874"} ! fatal multiple mitochondrial dysfunctions syndrome intersection_of: MONDO:0017338 ! fatal multiple mitochondrial dysfunctions syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24415 ! BOLA3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24415 {source="MONDO:mim2gene_medgen"} ! BOLA3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24415 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24415 {source="OMIM:614299"} [Term] id: MONDO:0013676 @@ -313633,7 +312005,6 @@ is_a: MONDO:0016830 {source="MONDO:Redundant", source="OMIM:614302"} ! Emery-Dre is_a: MONDO:0020336 {source="MONDO:Redundant", source="Orphanet:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy intersection_of: MONDO:0020336 ! autosomal dominant Emery-Dreifuss muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28472 ! TMEM43 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28472 {source="MONDO:mim2gene_medgen"} ! TMEM43 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -313663,7 +312034,7 @@ xref: SCTID:722439009 {source="MONDO:equivalentTo"} xref: UMLS:C3280392 {source="MEDGEN:482022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31555 {source="MONDO:mim2gene_medgen"} ! MIR184 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31555 {source="OMIM:614303"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -313689,7 +312060,6 @@ xref: UMLS:C3280402 {source="MONDO:equivalentTo", source="MEDGEN:482032", source is_a: MONDO:0017838 {source="DC-OMIM:614305", source="DOID:0060757", source="MONDO:Redundant", source="OMIM:614305"} ! sclerosteosis intersection_of: MONDO:0017838 ! sclerosteosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6696 ! LRP4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6696 {source="MONDO:mim2gene_medgen"} ! LRP4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -313702,7 +312072,6 @@ xref: MEDGEN:482045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614306 {source="MONDO:equivalentTo"} xref: UMLS:C3280415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482045"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 {source="MONDO:mim2gene_medgen"} ! SCN8A [Term] id: MONDO:0013681 @@ -313729,7 +312098,6 @@ xref: SCTID:700463002 {source="MONDO:equivalentTo"} xref: UMLS:C3280428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482058"} is_a: MONDO:0019233 {source="https://github.com/monarch-initiative/mondo/issues/1196", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013681 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/451 {source="MONDO:mim2gene_medgen"} ! AMACR [Term] id: MONDO:0013682 @@ -313798,7 +312166,6 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1100 ! BRCA1 intersection_of: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm relationship: excluded_subClassOf MONDO:0015278 {source="MONDO:Redundant", source="Orphanet:1333/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial pancreatic carcinoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1100 {source="MONDO:mim2gene_medgen", source="OMIM:614320"} ! BRCA1 [Term] id: MONDO:0013686 @@ -313820,7 +312187,6 @@ xref: SCTID:711265009 {source="MONDO:equivalentTo"} xref: UMLS:C3280443 {source="MEDGEN:482073", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016108 {source="Orphanet:488650"} ! autosomal dominant distal myopathy is_a: MONDO:0018949 {source="DC-OMIM:614321", source="MONDO:Redundant", source="Orphanet:488650/inferred"} ! distal myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 {source="MONDO:mim2gene_medgen"} ! CAV3 [Term] id: MONDO:0013687 @@ -313854,7 +312220,6 @@ xref: UMLS:C3280452 {source="MEDGEN:482082", source="MONDO:equivalentTo", source is_a: MONDO:0018446 {source="MONDO:Redundant", source="Orphanet:284282"} ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome intersection_of: MONDO:0018446 ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12799 ! WWOX -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12799 {source="MONDO:mim2gene_medgen"} ! WWOX [Term] id: MONDO:0013688 @@ -313914,8 +312279,8 @@ xref: Orphanet:243 {source="OMIM:614324"} xref: UMLS:C3280471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482101"} is_a: MONDO:0009299 {source="DOID:0080495", source="MONDO:Redundant", source="OMIM:614324", source="Orphanet:243/btnt"} ! 46 XX gonadal dysgenesis intersection_of: MONDO:0009299 ! 46 XX gonadal dysgenesis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17928 ! PSMC3IP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17928 {source="MONDO:mim2gene_medgen"} ! PSMC3IP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17928 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17928 {source="OMIM:614324"} [Term] id: MONDO:0013690 @@ -313937,7 +312302,6 @@ xref: UMLS:C3280479 {source="MEDGEN:482109", source="MONDO:equivalentTo", source is_a: MONDO:0016377 {source="MONDO:Redundant", source="Orphanet:221150/btnt"} ! Pitt-Hopkins-like syndrome intersection_of: MONDO:0016377 ! Pitt-Hopkins-like syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8008 ! NRXN1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8008 {source="MONDO:mim2gene_medgen"} ! NRXN1 [Term] id: MONDO:0013691 @@ -313969,7 +312333,6 @@ is_a: MONDO:0015267 {source="DC-OMIM:614326", source="MONDO:Redundant", source=" intersection_of: MONDO:0015267 ! Feingold syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23564 ! MIR17HG relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614326", source="Orphanet:391646"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23564 {source="MONDO:mim2gene_medgen"} ! MIR17HG [Term] id: MONDO:0013692 @@ -313998,7 +312361,6 @@ xref: SCTID:765057007 {source="MONDO:equivalentTo"} xref: UMLS:C3280492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482122"} is_a: MONDO:0015356 {source="Orphanet:289539"} ! hereditary neoplastic syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013692 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/950 {source="MONDO:mim2gene_medgen"} ! BAP1 [Term] id: MONDO:0013693 @@ -314019,8 +312381,8 @@ xref: Orphanet:294023 {source="OMIM:614328"} xref: UMLS:C3280501 {source="MONDO:equivalentTo", source="MEDGEN:482131", source="MONDO:MEDGEN"} is_a: MONDO:0017411 {source="DC-OMIM:614328", source="MONDO:Redundant", source="OMIM:614328", source="Orphanet:294023/btnt"} ! neonatal inflammatory skin and bowel disease intersection_of: MONDO:0017411 ! neonatal inflammatory skin and bowel disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/195 ! ADAM17 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/195 {source="MONDO:mim2gene_medgen"} ! ADAM17 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/195 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/195 {source="OMIM:614328"} [Term] id: MONDO:0013694 @@ -314062,7 +312424,6 @@ intersection_of: MONDO:0018630 ! hereditary nonpolyposis colon cancer intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11773 ! TGFBR2 relationship: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:614331", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614331"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11773 {source="MONDO:mim2gene_medgen"} ! TGFBR2 [Term] id: MONDO:0013696 @@ -314081,7 +312442,6 @@ is_a: MONDO:0005090 ! schizophrenia is_a: MONDO:0016884 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the short arm of chromosome 2 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr2p16.3 ! 2p16.3 (Human) -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8008 {source="MONDO:mim2gene_medgen"} ! NRXN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -314117,7 +312477,6 @@ xref: Orphanet:1146 {source="OMIM:614335"} xref: UMLS:C3280526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482156"} is_a: MONDO:0015240 {source="DOID:0111598", source="Orphanet:1146/btnt"} ! digitotalar dysmorphism is_a: MONDO:0019942 ! distal arthrogryposis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7549 {source="MONDO:mim2gene_medgen"} ! MYBPC1 [Term] id: MONDO:0013699 @@ -314142,7 +312501,6 @@ intersection_of: MONDO:0018630 ! hereditary nonpolyposis colon cancer intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9122 ! PMS2 relationship: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:614337", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614337"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9122 {source="MONDO:mim2gene_medgen"} ! PMS2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5666" xsd:anyURI [Term] @@ -314184,7 +312542,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditar is_a: MONDO:0005066 {source="https://orcid.org/0000-0001-9310-0163"} ! metabolic disease relationship: excluded_subClassOf MONDO:0002356 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0000-0002-5002-8648"} ! pancreas disorder relationship: excluded_subClassOf MONDO:0002525 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited lipid metabolism disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9155 {source="MONDO:mim2gene_medgen"} ! PNLIP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9155 {source="OMIM:614338"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6757" xsd:anyURI @@ -314223,8 +312581,8 @@ xref: Orphanet:88616 {source="OMIM:614340"} xref: UMLS:C3280538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482168"} is_a: MONDO:0019502 {source="DC-OMIM:614340", source="DOID:0081193", source="MONDO:Redundant", source="OMIM:614340"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30922 ! LINS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30922 {source="MONDO:mim2gene_medgen"} ! LINS1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30922 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30922 {source="OMIM:614340"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -314364,7 +312722,6 @@ intersection_of: MONDO:0018630 ! hereditary nonpolyposis colon cancer intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7329 ! MSH6 relationship: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:614350", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614350"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7329 {source="MONDO:mim2gene_medgen"} ! MSH6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5666" xsd:anyURI [Term] @@ -314387,7 +312744,6 @@ xref: Orphanet:397744 {source="OMIM:614369", source="MONDO:equivalentTo"} xref: UMLS:C3280556 {source="MONDO:equivalentTo", source="MEDGEN:482186", source="MONDO:MEDGEN"} is_a: MONDO:0015362 {source="Orphanet:397744"} ! neuronopathy, distal hereditary motor, autosomal dominant is_a: MONDO:0016108 {source="Orphanet:397744"} ! autosomal dominant distal myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23212 {source="MONDO:mim2gene_medgen"} ! MYH14 [Term] id: MONDO:0013712 @@ -314411,8 +312767,8 @@ xref: Orphanet:264675 {source="OMIM:614370"} xref: UMLS:C3280574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482204"} is_a: MONDO:0012580 {source="MONDO:Redundant", source="OMIM:614370", source="Orphanet:264675/btnt"} ! hereditary pulmonary alveolar proteinosis intersection_of: MONDO:0012580 ! hereditary pulmonary alveolar proteinosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2436 ! CSF2RB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2436 {source="MONDO:mim2gene_medgen"} ! CSF2RB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2436 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2436 {source="OMIM:614370"} [Term] id: MONDO:0013713 @@ -314430,7 +312786,6 @@ xref: Orphanet:99828 {source="MONDO:relatedTo", source="OMIM:614371"} xref: UMLS:C3280582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482212"} intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0005502 ! dengue disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1641 {source="MONDO:mim2gene_medgen"} ! CD209 [Term] id: MONDO:0013714 @@ -314455,7 +312810,7 @@ xref: SCTID:703538003 {source="MONDO:equivalentTo"} xref: UMLS:C3280586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482216"} is_a: MONDO:0003847 {source="MESH:C563602/inferred"} ! hereditary disease is_a: MONDO:0044209 {source="OMIM:614372"} ! disorder of lectin complement activation pathway -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6922 {source="MONDO:mim2gene_medgen"} ! MBL2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6922 {source="OMIM:614372"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -314481,7 +312836,6 @@ is_a: MONDO:0017593 {source="Orphanet:300605/btnt"} ! juvenile amyotrophic later is_a: MONDO:0024237 {source="MONDO:Redundant", source="MONDO:indirect"} ! inherited neurodegenerative disorder intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8157 ! SIGMAR1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8157 {source="MONDO:mim2gene_medgen"} ! SIGMAR1 [Term] id: MONDO:0013716 @@ -314522,7 +312876,6 @@ xref: UMLS:C3280598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018770 {source="DOID:0110089", source="MONDO:Redundant", source="OMIM:614376"} ! Jeune syndrome intersection_of: MONDO:0018770 ! Jeune syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18340 ! WDR19 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18340 {source="MONDO:mim2gene_medgen"} ! WDR19 [Term] id: MONDO:0013718 @@ -314559,7 +312912,6 @@ xref: Orphanet:1515 {source="OMIM:614378"} xref: UMLS:C3280616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482246"} is_a: MONDO:0009032 {source="DOID:0080806", source="OMIM:614378", source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614378"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18340 {source="MONDO:mim2gene_medgen"} ! WDR19 [Term] id: MONDO:0013720 @@ -314583,8 +312935,8 @@ xref: UMLS:C3280641 {source="MEDGEN:482271", source="MONDO:equivalentTo", source is_a: MONDO:0000015 {source="DC-OMIM:614379", source="MONDO:Redundant"} ! classic complement early component deficiency is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1324 ! C4B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1324 {source="MONDO:mim2gene_medgen"} ! C4B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1324 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1324 {source="OMIM:614379"} [Term] id: MONDO:0013721 @@ -314610,7 +312962,6 @@ is_a: MONDO:0000015 {source="DC-OMIM:614380", source="MONDO:Redundant"} ! classi is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1323 ! C4A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1323 {source="MONDO:mim2gene_medgen"} ! C4A [Term] id: MONDO:0013722 @@ -314652,7 +313003,6 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30 relationship: disease_has_feature HP:0011001 {source="Orphanet:85186"} ! Increased bone mineral density relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:85186", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30348 {source="MONDO:mim2gene_medgen"} ! POLR3B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4516" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI @@ -314677,7 +313027,6 @@ xref: UMLS:C3280645 {source="MEDGEN:482275", source="MONDO:equivalentTo", source is_a: MONDO:0000108 {source="DC-OMIM:614382", source="MONDO:Redundant"} ! bacteremia, susceptibility intersection_of: MONDO:0000108 ! bacteremia, susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17192 ! TIRAP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17192 {source="MONDO:mim2gene_medgen"} ! TIRAP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -314697,7 +313046,6 @@ xref: UMLS:C3280647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000108 {source="DC-OMIM:614383", source="MONDO:Redundant"} ! bacteremia, susceptibility intersection_of: MONDO:0000108 ! bacteremia, susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1984 ! CISH -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1984 {source="MONDO:mim2gene_medgen"} ! CISH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -314725,7 +313073,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013725 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:614385", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614385"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7128 {source="MONDO:mim2gene_medgen"} ! MLH3 [Term] id: MONDO:0013726 @@ -314752,7 +313099,6 @@ xref: UMLS:C3280660 {source="MEDGEN:482290", source="MONDO:equivalentTo", source is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0054865 {source="OMIM:614388", source="Orphanet:330050", source="https://www.clinicalgenome.org/affiliation/40049/"} ! encephalopathy due to mitochondrial and peroxisomal fission defect is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2973 {source="MONDO:mim2gene_medgen"} ! DNM1L property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI @@ -314780,7 +313126,6 @@ xref: UMLS:C3280670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000144 {source="DC-OMIM:614389", source="MONDO:Redundant"} ! pregnancy loss, recurrent, susceptibility intersection_of: MONDO:0000144 ! pregnancy loss, recurrent, susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3542 ! F5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3542 {source="MONDO:mim2gene_medgen"} ! F5 [Term] id: MONDO:0013728 @@ -314798,7 +313143,6 @@ xref: UMLS:C3280672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000144 {source="DC-OMIM:614390", source="MONDO:Redundant"} ! pregnancy loss, recurrent, susceptibility intersection_of: MONDO:0000144 ! pregnancy loss, recurrent, susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3535 ! F2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3535 {source="MONDO:mim2gene_medgen"} ! F2 [Term] id: MONDO:0013729 @@ -314815,8 +313159,8 @@ xref: OMIM:614391 {source="MONDO:equivalentTo"} xref: UMLS:C3280674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482304"} is_a: MONDO:0000144 {source="DC-OMIM:614391", source="MONDO:Redundant"} ! pregnancy loss, recurrent, susceptibility intersection_of: MONDO:0000144 ! pregnancy loss, recurrent, susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/543 ! ANXA5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/543 {source="MONDO:mim2gene_medgen"} ! ANXA5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/543 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/543 {source="OMIM:614391"} [Term] id: MONDO:0013730 @@ -314896,7 +313240,6 @@ xref: Orphanet:98920 {source="OMIM:614399"} xref: UMLS:C3280679 {source="MEDGEN:482309", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019952 {source="DOID:0111333", source="OMIM:614399", source="Orphanet:439212"} ! congenital myopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013731 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29634 {source="MONDO:mim2gene_medgen"} ! MEGF10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1112" xsd:anyURI [Term] @@ -314908,7 +313251,7 @@ xref: MEDGEN:482319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614400 {source="MONDO:equivalentTo"} xref: UMLS:C3280689 {source="MEDGEN:482319", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18713 {source="MONDO:mim2gene_medgen"} ! GLCCI1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18713 {source="OMIM:614400"} [Term] id: MONDO:0013733 @@ -314940,8 +313283,8 @@ xref: OMIM:614402 {source="MONDO:equivalentTo"} xref: UMLS:C3553077 {source="MEDGEN:765991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016073 {source="DC-OMIM:614402", source="DOID:0111804", source="MONDO:Redundant", source="OMIM:614402"} ! syndromic microphthalmia intersection_of: MONDO:0016073 ! syndromic microphthalmia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12660 ! VAX1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12660 {source="MONDO:mim2gene_medgen"} ! VAX1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12660 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12660 {source="OMIM:614402"} [Term] id: MONDO:0013735 @@ -315002,7 +313345,7 @@ xref: SCTID:723822009 {source="MONDO:equivalentTo"} xref: UMLS:C2828721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473687"} is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110798", source="MONDO:Redundant", source="OMIM:614409", source="Orphanet:320391/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18986 {source="MONDO:mim2gene_medgen"} ! GBA2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18986 {source="OMIM:614409"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -315049,7 +313392,6 @@ is_a: MONDO:0019557 {source="DC-OMIM:614415", source="OMIM:614415"} ! chilblain is_a: MONDO:0700260 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! SAMHD1-related type 1 interferonopathy intersection_of: MONDO:0019557 ! chilblain lupus intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15925 ! SAMHD1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15925 {source="MONDO:mim2gene_medgen"} ! SAMHD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI [Term] @@ -315074,7 +313416,7 @@ xref: Orphanet:293925 {source="MONDO:equivalentTo", source="OMIM:614416"} xref: UMLS:C3280729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482359"} is_a: MONDO:0015338 {source="Orphanet:293925"} ! syndromic craniosynostosis is_a: MONDO:0015469 {source="PMID:17389183", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20581 {source="MONDO:mim2gene_medgen"} ! CYP26B1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20581 {source="OMIM:614416"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -315097,7 +313439,6 @@ xref: Orphanet:163717 {source="DOID:0060752"} xref: Orphanet:165805 {source="OMIM:614417"} xref: UMLS:C3280730 {source="MEDGEN:482360", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005115 {source="DOID:0060752", source="OMIM:614417"} ! temporal lobe epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17245 {source="MONDO:mim2gene_medgen"} ! CPA6 [Term] id: MONDO:0013742 @@ -315140,7 +313481,8 @@ xref: UMLS:C3280742 {source="MEDGEN:482372", source="MONDO:equivalentTo", source is_a: MONDO:0007915 {source="DC-OMIM:614420", source="MONDO:Redundant"} ! systemic lupus erythematosus intersection_of: MONDO:0007915 {source="MONDO:mim2gene_medgen"} ! systemic lupus erythematosus intersection_of: has_characteristic MONDO:0021152 {source="MONDO:mim2gene_medgen"} ! inherited -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2959 {source="MONDO:mim2gene_medgen"} ! DNASE1L3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2959 {source="MONDO:mim2gene_medgen"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2959 {source="OMIM:614420"} [Term] id: MONDO:0013744 @@ -315196,9 +313538,9 @@ is_a: MONDO:0009480 {source="Orphanet:2318/btnt"} ! Joubert syndrome with oculor is_a: MONDO:0016364 {source="Orphanet:220493/btnt"} ! Joubert syndrome with ocular defect is_a: MONDO:0018772 {source="DOID:0110983", source="MONDO:Redundant", source="OMIM:614424", source="Orphanet:475/btnt"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14432 ! TMEM237 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14432 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013745 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14432 {source="MONDO:mim2gene_medgen"} ! TMEM237 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14432 {source="OMIM:614424"} [Term] id: MONDO:0013746 @@ -315218,7 +313560,6 @@ is_a: MONDO:0002070 {source="DC-OMIM:614429", source="MONDO:Redundant", source=" is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0002070 ! ventricular septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 ! GATA4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 {source="MONDO:mim2gene_medgen"} ! GATA4 [Term] id: MONDO:0013747 @@ -315241,7 +313582,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0020290 {source="DC-OMIM:614430", source="MONDO:Redundant", source="OMIM:614430"} ! familial atrioventricular septal defect intersection_of: MONDO:0020290 ! familial atrioventricular septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 ! GATA4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 {source="MONDO:mim2gene_medgen"} ! GATA4 [Term] id: MONDO:0013748 @@ -315261,7 +313601,6 @@ is_a: MONDO:0002070 {source="DC-OMIM:614431", source="MONDO:Redundant", source=" is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0002070 ! ventricular septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1987 ! CITED2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1987 {source="MONDO:mim2gene_medgen"} ! CITED2 [Term] id: MONDO:0013749 @@ -315281,7 +313620,6 @@ is_a: MONDO:0002070 {source="DC-OMIM:614432", source="MONDO:Redundant", source=" is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0002070 ! ventricular septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 ! NKX2-5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 {source="MONDO:mim2gene_medgen"} ! NKX2-5 [Term] id: MONDO:0013750 @@ -315305,7 +313643,6 @@ xref: UMLS:C3280790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0006664 {source="DC-OMIM:614433", source="DOID:0110113", source="MONDO:Redundant", source="OMIM:614433"} ! atrial septal defect intersection_of: MONDO:0006664 ! atrial septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1987 ! CITED2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1987 {source="MONDO:mim2gene_medgen"} ! CITED2 [Term] id: MONDO:0013751 @@ -315331,7 +313668,6 @@ is_a: MONDO:0100237 {source="MONDO:Redundant", source="OMIM:614434"} ! inherited intersection_of: MONDO:0019571 ! autosomal dominant cutis laxa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3602 ! FBLN5 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614434"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3602 {source="MONDO:mim2gene_medgen"} ! FBLN5 [Term] id: MONDO:0013752 @@ -315356,7 +313692,6 @@ xref: UMLS:C3280795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004933 {source="MONDO:Redundant", source="OMIM:614435"} ! hypoplastic left heart syndrome intersection_of: MONDO:0004933 ! hypoplastic left heart syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 ! NKX2-5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 {source="MONDO:mim2gene_medgen"} ! NKX2-5 [Term] id: MONDO:0013753 @@ -315400,9 +313735,9 @@ xref: UMLS:C3280797 {source="MEDGEN:482427", source="MONDO:equivalentTo", source is_a: MONDO:0015626 {source="DOID:0110169/inferred", source="MONDO:Redundant", source="OMIM:614436", source="Orphanet:300319/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018993 {source="DOID:0110169", source="Orphanet:300319", source="Orphanet:99941"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25135 ! LRSAM1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25135 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013753 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25135 {source="MONDO:mim2gene_medgen"} ! LRSAM1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25135 {source="OMIM:614436"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12435/charcot-marie-tooth-disease-type-2p" xsd:anyURI {source="GARD:0012435"} [Term] @@ -315426,8 +313761,8 @@ is_a: MONDO:0019572 {source="DOID:0070133", source="Orphanet:90349/btnt"} ! auto is_a: MONDO:0100237 {source="DOID:0070133/inferred", source="MONDO:Redundant", source="OMIM:614437"} ! inherited cutis laxa intersection_of: MONDO:0100237 ! inherited cutis laxa intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3219 ! EFEMP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3219 {source="MONDO:mim2gene_medgen"} ! EFEMP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3219 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3219 {source="OMIM:614437"} [Term] id: MONDO:0013755 @@ -315461,7 +313796,6 @@ is_a: MONDO:0017569 {source="DOID:0070138", source="MONDO:Redundant", source="Or is_a: MONDO:0100237 {source="DOID:0070138/inferred", source="MONDO:Redundant", source="OMIM:614438", source="Orphanet:293633/inferred"} ! inherited cutis laxa intersection_of: MONDO:0017569 ! de Barsy syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9721 ! PYCR1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9721 {source="MONDO:mim2gene_medgen"} ! PYCR1 [Term] id: MONDO:0013756 @@ -315486,7 +313820,6 @@ xref: UMLS:C3280800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016620 {source="MONDO:0013756/inferred", source="MONDO:Redundant", source="OMIM:614441", source="Orphanet:2796/btnt"} ! primary hypertrophic osteoarthropathy intersection_of: MONDO:0016620 ! primary hypertrophic osteoarthropathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10955 ! SLCO2A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10955 {source="MONDO:mim2gene_medgen"} ! SLCO2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -315513,9 +313846,9 @@ is_a: MONDO:0000045 {source="DC-OMIM:614450", source="MONDO:Redundant", source=" is_a: MONDO:0018612 {source="DOID:0070128", source="MONDO:indirect"} ! congenital hypothyroidism is_a: MONDO:0019995 {source="Orphanet:97927/btnt"} ! peripheral resistance to thyroid hormones intersection_of: MONDO:0000045 ! hypothyroidism, congenital, nongoitrous -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11796 ! THRA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11796 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11796 {source="MONDO:mim2gene_medgen"} ! THRA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11796 {source="OMIM:614450"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -315549,7 +313882,6 @@ xref: SCTID:722294004 {source="MONDO:equivalentTo"} xref: UMLS:C4302667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928336"} is_a: MONDO:0019548 {source="Orphanet:93114", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013758 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23791 {source="MONDO:mim2gene_medgen"} ! INF2 [Term] id: MONDO:0013759 @@ -315576,7 +313908,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma relationship: excluded_subClassOf MONDO:0015356 {source="Orphanet:293822", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:614456", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 {source="MONDO:mim2gene_medgen"} ! MITF relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma [Term] @@ -315622,7 +313953,7 @@ xref: OMIM:614458 {source="Orphanet:293955/e", source="MONDO:equivalentTo", sour xref: Orphanet:293955 {source="OMIM:614458", source="MONDO:equivalentTo"} xref: UMLS:C3280866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482496"} is_a: MONDO:0000152 {source="DC-OMIM:614458", source="OMIM:614458"} ! thiamine-responsive dysfunction syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17358 {source="MONDO:mim2gene_medgen"} ! TPK1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17358 {source="OMIM:614458"} [Term] id: MONDO:0013762 @@ -315647,7 +313978,7 @@ xref: UMLS:C3280887 {source="MEDGEN:482517", source="MONDO:equivalentTo", source is_a: MONDO:0018424 {source="MONDO:Redundant", source="Orphanet:401859"} ! inherited lipoic acid biosynthesis defect is_a: MONDO:0019169 {source="DC-OMIM:614462", source="OMIM:614462"} ! pyruvate dehydrogenase deficiency relationship: disease_has_basis_in_disruption_of GO:0009107 ! lipoate biosynthetic process -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16429 {source="MONDO:mim2gene_medgen"} ! LIAS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16429 {source="OMIM:614462"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency" xsd:anyURI {source="GARD:0012678"} [Term] @@ -315674,8 +314005,8 @@ xref: UMLS:C3280897 {source="MEDGEN:482527", source="MONDO:equivalentTo", source is_a: MONDO:0016364 {source="Orphanet:Inferred"} ! Joubert syndrome with ocular defect is_a: MONDO:0018772 {source="DC-OMIM:614464", source="DOID:0110984", source="MONDO:Redundant", source="OMIM:614464"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12370 ! CEP41 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12370 {source="MONDO:mim2gene_medgen"} ! CEP41 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12370 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12370 {source="OMIM:614464"} [Term] id: MONDO:0013764 @@ -315698,8 +314029,8 @@ xref: UMLS:C3280906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0009480 {source="Orphanet:Inferred"} ! Joubert syndrome with oculorenal defect is_a: MONDO:0018772 {source="DC-OMIM:614465", source="DOID:0110985", source="MONDO:Redundant", source="OMIM:614465"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26944 ! TMEM138 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26944 {source="MONDO:mim2gene_medgen"} ! TMEM138 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26944 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26944 {source="OMIM:614465"} [Term] id: MONDO:0013765 @@ -315716,9 +314047,9 @@ xref: MEDGEN:482543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614466 {source="MONDO:equivalentTo"} xref: UMLS:C3280913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482543"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7173 ! MMP3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7173 intersection_of: predisposes_towards MONDO:0005010 ! coronary artery disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7173 {source="MONDO:mim2gene_medgen"} ! MMP3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7173 {source="OMIM:614466"} [Term] id: MONDO:0013766 @@ -315752,7 +314083,6 @@ is_a: MONDO:0018768 {source="DC-OMIM:614468", source="DOID:0090064", source="MON intersection_of: MONDO:0018768 ! familial cold autoinflammatory syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9066 ! PLCG2 relationship: excluded_subClassOf MONDO:0005492 {source="Orphanet:300359", source="https://orcid.org/0000-0001-5208-3432"} ! urticaria -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9066 {source="MONDO:mim2gene_medgen"} ! PLCG2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI [Term] @@ -315788,7 +314118,6 @@ xref: UMLS:C2674723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017979 {source="DC-OMIM:614470", source="DOID:0110117", source="MONDO:Redundant"} ! autoimmune lymphoproliferative syndrome intersection_of: MONDO:0017979 ! autoimmune lymphoproliferative syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7989 ! NRAS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7989 {source="MONDO:mim2gene_medgen"} ! NRAS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -315811,7 +314140,6 @@ is_a: MONDO:0018870 {source="DC-OMIM:614473", source="MONDO:Redundant", source=" intersection_of: MONDO:0018870 ! arterial calcification of infancy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/57 ! ABCC6 relationship: excluded_subClassOf MONDO:0018910 {source="https://orcid.org/0000-0001-5208-3432"} ! oculocutaneous albinism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/57 {source="MONDO:mim2gene_medgen"} ! ABCC6 [Term] id: MONDO:0013769 @@ -315834,7 +314162,6 @@ is_a: MONDO:0020290 {source="DC-OMIM:614474", source="MONDO:Redundant", source=" is_a: MONDO:0100540 {source="https://clinicalgenome.org/affiliation/40130/"} ! GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes intersection_of: MONDO:0020290 ! familial atrioventricular septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4174 ! GATA6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4174 {source="MONDO:mim2gene_medgen"} ! GATA6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7218" xsd:anyURI [Term] @@ -315860,7 +314187,6 @@ is_a: MONDO:0006664 {source="DC-OMIM:614475", source="DOID:0110114", source="MON is_a: MONDO:0100540 {source="https://clinicalgenome.org/affiliation/40130/"} ! GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes intersection_of: MONDO:0006664 ! atrial septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4174 ! GATA6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4174 {source="MONDO:mim2gene_medgen"} ! GATA6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7218" xsd:anyURI [Term] @@ -315883,7 +314209,7 @@ xref: Orphanet:300293 {source="MONDO:equivalentTo", source="OMIM:614480"} xref: UMLS:C3280953 {source="MEDGEN:482583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005154 {source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0000-0002-5002-8648"} ! liver disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4455 {source="MONDO:mim2gene_medgen"} ! GPD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4455 {source="OMIM:614480"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -315910,7 +314236,6 @@ xref: Orphanet:300313 {source="MONDO:equivalentTo", source="OMIM:614482"} xref: UMLS:C4751114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1659966"} is_a: MONDO:0003847 {source="OMIM:614482"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/95 {source="MONDO:mim2gene_medgen"} ! SLC33A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6765#issuecomment-1797800311" xsd:anyURI @@ -315937,7 +314262,6 @@ xref: UMLS:C3280970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020496 {source="DOID:0112314", source="OMIM:614483", source="Orphanet:99810/btnt"} ! familial porencephaly intersection_of: MONDO:0020496 ! familial porencephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2203 ! COL4A2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2203 {source="MONDO:mim2gene_medgen"} ! COL4A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -315962,7 +314286,6 @@ is_a: MONDO:0000156 {source="MONDO:Redundant", source="OMIM:614485"} ! trigonoce is_a: MONDO:0018065 {source="MONDO:Redundant", source="OMIM:614485", source="Orphanet:3366/btnt"} ! isolated trigonocephaly intersection_of: MONDO:0018065 ! isolated trigonocephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23399 ! FREM1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23399 {source="MONDO:mim2gene_medgen"} ! FREM1 [Term] id: MONDO:0013775 @@ -315992,7 +314315,6 @@ is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein dis is_a: MONDO:0002243 ! hemorrhagic disease is_a: MONDO:0100240 {source="DC-OMIM:614486", source="MESH:C566057", source="OMIM:614486"} ! inherited thrombophilia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013775 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11784 {source="MONDO:mim2gene_medgen"} ! THBD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -316026,7 +314348,6 @@ is_a: MONDO:0017847 {source="MONDO:Redundant", source="Orphanet:313772"} ! autos is_a: MONDO:0018158 {source="Orphanet:313772"} ! mitochondrial DNA depletion syndrome intersection_of: MONDO:0017847 ! autosomal recessive spastic ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/315 ! AFG3L2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/315 {source="MONDO:mim2gene_medgen"} ! AFG3L2 [Term] id: MONDO:0013777 @@ -316054,8 +314375,8 @@ xref: Orphanet:88939 {source="MONDO:equivalentTo", source="OMIM:614491"} xref: UMLS:C1840390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374457"} is_a: MONDO:0019162 {source="MONDO:Redundant", source="OMIM:614491", source="Orphanet:88939"} ! pseudohypoaldosteronism type 2 intersection_of: MONDO:0019162 ! pseudohypoaldosteronism type 2 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14544 ! WNK4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14544 {source="MONDO:mim2gene_medgen"} ! WNK4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14544 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14544 {source="OMIM:614491"} [Term] id: MONDO:0013778 @@ -316084,7 +314405,6 @@ xref: UMLS:C1840391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019162 {source="MONDO:Redundant", source="OMIM:614492", source="Orphanet:88940"} ! pseudohypoaldosteronism type 2 intersection_of: MONDO:0019162 ! pseudohypoaldosteronism type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14540 ! WNK1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14540 {source="MONDO:mim2gene_medgen"} ! WNK1 [Term] id: MONDO:0013779 @@ -316108,7 +314428,7 @@ xref: Orphanet:906 {source="OMIM:614493"} xref: UMLS:C3281001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482631"} is_a: MONDO:0021094 {source="MONDO:Redundant", source="Orphanet:906/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013779 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12736 {source="MONDO:mim2gene_medgen", source="OMIM:614493"} ! WIPF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12736 {source="OMIM:614493"} [Term] id: MONDO:0013780 @@ -316155,8 +314475,8 @@ xref: Orphanet:757 {source="OMIM:614495"} xref: UMLS:C3469605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483335"} is_a: MONDO:0019162 {source="MONDO:Redundant", source="OMIM:614495", source="Orphanet:300525"} ! pseudohypoaldosteronism type 2 intersection_of: MONDO:0019162 ! pseudohypoaldosteronism type 2 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6354 ! KLHL3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6354 {source="MONDO:mim2gene_medgen"} ! KLHL3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6354 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6354 {source="OMIM:614495"} [Term] id: MONDO:0013782 @@ -316188,7 +314508,6 @@ is_a: MONDO:0019162 {source="MONDO:Redundant", source="OMIM:614496", source="Orp intersection_of: MONDO:0019162 ! pseudohypoaldosteronism type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2553 ! CUL3 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013782 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2553 {source="MONDO:mim2gene_medgen"} ! CUL3 [Term] id: MONDO:0013783 @@ -316210,7 +314529,6 @@ xref: UMLS:C3281027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:614497", source="Orphanet:98938/btnt"} ! microphthalmia, isolated, with coloboma intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/47 ! ABCB6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/47 {source="MONDO:mim2gene_medgen"} ! ABCB6 [Term] id: MONDO:0013784 @@ -316237,7 +314555,6 @@ xref: UMLS:C3281029 {source="MEDGEN:482659", source="MONDO:equivalentTo", source is_a: MONDO:0015653 {source="EFO:0009144", source="Orphanet:435845"} ! monogenic epilepsy is_a: MONDO:0100062 {source="https://orcid.org/0000-0001-5751-2224"} ! developmental and epileptic encephalopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013784 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21701 {source="MONDO:mim2gene_medgen"} ! BRAT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5125" xsd:anyURI [Term] @@ -316265,8 +314582,8 @@ xref: OMIM:614499 {source="MONDO:equivalentTo"} xref: UMLS:C3281044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482674"} is_a: MONDO:0019502 {source="DC-OMIM:614499", source="DOID:0081200", source="MONDO:Redundant", source="OMIM:614499"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2340 ! CRADD -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2340 {source="MONDO:mim2gene_medgen"} ! CRADD +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2340 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2340 {source="OMIM:614499"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -316292,7 +314609,6 @@ is_a: MONDO:0015993 {source="DC-OMIM:614500", source="DOID:0111022", source="MON is_a: MONDO:0019200 {source="DC-OMIM:614500", source="OMIM:614500"} ! retinitis pigmentosa intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27232 ! CFAP418 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27232 {source="MONDO:mim2gene_medgen"} ! CFAP418 [Term] id: MONDO:0013787 @@ -316304,7 +314620,7 @@ xref: MEDGEN:482685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614501 {source="MONDO:equivalentTo"} xref: UMLS:C3281055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482685"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30587 {source="MONDO:mim2gene_medgen"} ! SNIP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30587 {source="OMIM:614501"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -316333,7 +314649,6 @@ is_a: MONDO:0019501 {source="DOID:0110842/inferred", source="MONDO:Redundant", s intersection_of: MONDO:0019501 ! Usher syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4816 ! HARS1 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614504"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4816 {source="MONDO:mim2gene_medgen"} ! HARS1 [Term] id: MONDO:0013789 @@ -316369,7 +314684,7 @@ is_a: MONDO:0005500 {source="DC-OMIM:614507", source="DOID:0080569", source="OMI is_a: MONDO:0015286 {source="MONDO:0013789/inferred", source="MONDO:Redundant", source="OMIM:614507", source="Orphanet:300536/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:300536"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2728 {source="MONDO:mim2gene_medgen"} ! DDOST +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2728 {source="OMIM:614507"} [Term] id: MONDO:0013790 @@ -316391,7 +314706,6 @@ xref: UMLS:C3281089 {source="MONDO:equivalentTo", source="MEDGEN:482719", source is_a: MONDO:0016558 {source="DC-OMIM:614508", source="MONDO:Redundant", source="OMIM:614508", source="Orphanet:238722/btnt"} ! familial congenital mirror movements intersection_of: MONDO:0016558 ! familial congenital mirror movements intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9817 ! RAD51 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9817 {source="MONDO:mim2gene_medgen"} ! RAD51 [Term] id: MONDO:0013791 @@ -316410,7 +314724,6 @@ xref: Orphanet:743 {source="OMIM:614514"} xref: UMLS:C3281092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482722"} is_a: MONDO:0019144 {source="Orphanet:743/btnt"} ! hereditary thrombophilia due to congenital protein S deficiency is_a: MONDO:0100240 {source="MONDO:Redundant", source="OMIM:614514"} ! inherited thrombophilia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9456 {source="MONDO:mim2gene_medgen"} ! PROS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -316461,7 +314774,6 @@ xref: UMLS:C3281125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002249 {source="DC-OMIM:614521"} ! thrombocytosis disease is_a: MONDO:0019111 {source="OMIM:614521", source="OMIMPS:187950"} ! familial thrombocytosis relationship: excluded_subClassOf MONDO:0005029 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! essential thrombocythemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6192 {source="MONDO:mim2gene_medgen"} ! JAK2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/230" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -316486,7 +314798,6 @@ xref: UMLS:C3281128 {source="MEDGEN:482758", source="MONDO:equivalentTo", source is_a: MONDO:0016068 {source="DC-OMIM:614524", source="DOID:0080673", source="MONDO:Redundant", source="OMIM:614524"} ! fibrochondrogenesis intersection_of: MONDO:0016068 ! fibrochondrogenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 ! COL11A2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 {source="MONDO:mim2gene_medgen"} ! COL11A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -316613,7 +314924,7 @@ xref: Orphanet:300179 {source="OMIM:614557", source="MONDO:equivalentTo"} xref: SCTID:720859009 {source="MONDO:equivalentTo"} xref: UMLS:C3281160 {source="MEDGEN:482790", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020066 {source="OMIM:614557", source="Orphanet:300179"} ! Ehlers-Danlos syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18625 {source="MONDO:mim2gene_medgen"} ! FKBP14 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18625 {source="OMIM:614557"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4220" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7527" xsd:anyURI @@ -316645,7 +314956,6 @@ is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset e is_a: MONDO:0100062 {source="DC-OMIM:614558", source="MONDO:Redundant", source="OMIM:614558"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 ! SCN8A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 {source="MONDO:mim2gene_medgen"} ! SCN8A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -316671,7 +314981,6 @@ xref: UMLS:C3281192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016790 {source="Orphanet:313850"} ! tricarboxylic acid cycle disorder is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:313850"} ! inherited retinal dystrophy is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:313850"} ! inherited neurodegenerative disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/118 {source="MONDO:mim2gene_medgen"} ! ACO2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration" xsd:anyURI {source="GARD:0013264"} [Term] @@ -316693,7 +315002,7 @@ xref: Orphanet:542310 {source="MONDO:equivalentTo"} xref: UMLS:C3281200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482830"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic HP:0000007 {source="Orphanet:542310"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32952 {source="MONDO:mim2gene_medgen", source="Orphanet:542310"} ! SNORD118 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32952 {source="OMIM:614561"} [Term] id: MONDO:0013804 @@ -316735,7 +315044,6 @@ is_a: MONDO:1040031 {source="https://clinicalgenome.org/affiliation/40006/", sou intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 ! DYNC1H1 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 {source="MONDO:mim2gene_medgen"} ! DYNC1H1 [Term] id: MONDO:0013806 @@ -316758,7 +315066,6 @@ xref: Orphanet:313846 {source="OMIM:614564", source="MONDO:equivalentTo"} xref: UMLS:C3281203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482833"} is_a: MONDO:0015356 {source="Orphanet:313846"} ! hereditary neoplastic syndrome is_a: MONDO:0019293 {source="Orphanet:313846"} ! skin vascular disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/882 {source="MONDO:mim2gene_medgen"} ! ATR [Term] id: MONDO:0013807 @@ -316783,9 +315090,9 @@ xref: UMLS:C3281215 {source="MEDGEN:482845", source="MONDO:equivalentTo", source is_a: MONDO:0016293 {source="DC-OMIM:614565", source="DOID:0110869", source="MONDO:Redundant", source="OMIM:614565"} ! congenital stationary night blindness is_a: MONDO:0800396 {source="https://clinicalgenome.org/affiliation/40072/"} ! GPR179-related retinopathy intersection_of: MONDO:0016293 ! congenital stationary night blindness -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31371 ! GPR179 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31371 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31371 {source="MONDO:mim2gene_medgen"} ! GPR179 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31371 {source="OMIM:614565"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI @@ -316872,7 +315179,6 @@ is_a: MONDO:0005501 {source="DC-OMIM:614576", source="DOID:0070264", source="OMI is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0017750 {source="Orphanet:464443"} ! defect in conserved oligomeric Golgi complex relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18621 {source="MONDO:mim2gene_medgen"} ! COG6 [Term] id: MONDO:0013811 @@ -316899,8 +315205,8 @@ xref: UMLS:C4706315 {source="MEDGEN:1634481", source="MONDO:equivalentTo", sourc is_a: MONDO:0000732 {source="DC-OMIM:614582", source="DOID:0111472", source="MONDO:Redundant", source="OMIM:614582"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10379 ! MRPL3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10379 {source="MONDO:mim2gene_medgen"} ! MRPL3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10379 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10379 {source="OMIM:614582"} [Term] id: MONDO:0013812 @@ -316926,7 +315232,6 @@ is_a: MONDO:0017579 {source="DC-OMIM:614583", source="DOID:0081113", source="MON intersection_of: MONDO:0017579 ! Baraitser-Winter cerebrofrontofacial syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/144 ! ACTG1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013812 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/144 {source="MONDO:mim2gene_medgen"} ! ACTG1 [Term] id: MONDO:0013813 @@ -316989,7 +315294,6 @@ xref: Orphanet:313855 {source="MONDO:equivalentTo", source="OMIM:614592"} xref: UMLS:C3281247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482877"} is_a: MONDO:0031615 {source="OMIM:614592", source="PMID:31633310"} ! familial bent bone dysplasia syndrome relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 {source="MONDO:mim2gene_medgen"} ! FGFR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -317023,7 +315327,6 @@ xref: UMLS:C3281288 {source="MEDGEN:482918", source="MONDO:equivalentTo", source is_a: MONDO:0005081 {source="DC-OMIM:614595", source="MONDO:Redundant", source="OMIM:614595"} ! preeclampsia intersection_of: MONDO:0005081 ! preeclampsia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19012 ! CORIN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19012 {source="MONDO:mim2gene_medgen"} ! CORIN [Term] id: MONDO:0013818 @@ -317047,7 +315350,6 @@ xref: UMLS:C3281289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0009105 {source="DOID:0111416", source="MONDO:Redundant", source="OMIM:614602", source="Orphanet:84064/btnt"} ! trichohepatoenteric syndrome intersection_of: MONDO:0009105 ! trichohepatoenteric syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10898 ! SKIC2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10898 {source="MONDO:mim2gene_medgen"} ! SKIC2 [Term] id: MONDO:0013819 @@ -317078,10 +315380,10 @@ xref: UMLS:C3553247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015452 {source="DC-OMIM:614607", source="DOID:0070044", source="MONDO:Redundant", source="OMIM:614607", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy intersection_of: MONDO:0015452 ! Coffin-Siris syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11110 ! ARID1A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11110 relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070044", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11110 {source="MONDO:mim2gene_medgen"} ! ARID1A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11110 {source="OMIM:614607"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI [Term] @@ -317115,7 +315417,6 @@ intersection_of: MONDO:0015452 ! Coffin-Siris syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11103 ! SMARCB1 relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070045", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11103 {source="MONDO:mim2gene_medgen"} ! SMARCB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -317150,7 +315451,6 @@ intersection_of: MONDO:0015452 ! Coffin-Siris syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11100 ! SMARCA4 relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070046", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11100 {source="MONDO:mim2gene_medgen"} ! SMARCA4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -317175,8 +315475,8 @@ xref: UMLS:C3553250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia is_a: MONDO:0019797 {source="DC-OMIM:614613", source="MONDO:Redundant", source="OMIM:614613"} ! acrodysostosis intersection_of: MONDO:0019797 ! acrodysostosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8783 ! PDE4D -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8783 {source="MONDO:mim2gene_medgen"} ! PDE4D +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8783 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8783 {source="OMIM:614613"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -317205,7 +315505,6 @@ xref: UMLS:C3281297 {source="MEDGEN:482927", source="MONDO:equivalentTo", source is_a: MONDO:0019587 {source="DC-OMIM:614614", source="DOID:0110574", source="MONDO:Redundant", source="OMIM:614614"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31948 ! CEACAM16 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31948 {source="MONDO:mim2gene_medgen"} ! CEACAM16 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -317234,7 +315533,6 @@ is_a: MONDO:0018772 {source="DC-OMIM:614615", source="DOID:0110986", source="MON intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25801 ! CPLANE1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013824 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25801 {source="MONDO:mim2gene_medgen"} ! CPLANE1 [Term] id: MONDO:0013825 @@ -317271,7 +315569,6 @@ is_a: MONDO:0021189 {source="Orphanet:314373"} ! intestinal motility disease intersection_of: MONDO:0000824 ! congenital diarrhea intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4688 ! GUCY2C relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4688 {source="MONDO:mim2gene_medgen"} ! GUCY2C property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -317299,7 +315596,6 @@ xref: UMLS:C2829265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019588 {source="DC-OMIM:614617", source="DOID:0110532", source="MONDO:Redundant", source="OMIM:614617"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29203 ! TBC1D24 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29203 {source="MONDO:mim2gene_medgen"} ! TBC1D24 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -317324,8 +315620,8 @@ xref: Orphanet:3197 {source="DOID:0060698", source="OMIM:614618"} xref: UMLS:C3553288 {source="MEDGEN:766202", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021022 {source="DOID:0060698", source="MONDO:Redundant", source="OMIM:614618", source="Orphanet:3197/btnt"} ! hereditary hyperekplexia intersection_of: MONDO:0021022 ! hereditary hyperekplexia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11051 ! SLC6A5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11051 {source="MONDO:mim2gene_medgen"} ! SLC6A5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11051 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11051 {source="OMIM:614618"} [Term] id: MONDO:0013828 @@ -317348,8 +315644,8 @@ xref: Orphanet:3197 {source="DOID:0060697", source="OMIM:614619"} xref: UMLS:C3553291 {source="MEDGEN:766205", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021022 {source="DOID:0060697", source="MONDO:Redundant", source="OMIM:614619", source="Orphanet:3197/btnt"} ! hereditary hyperekplexia intersection_of: MONDO:0021022 ! hereditary hyperekplexia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4329 ! GLRB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4329 {source="MONDO:mim2gene_medgen"} ! GLRB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4329 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4329 {source="OMIM:614619"} [Term] id: MONDO:0013829 @@ -317373,7 +315669,6 @@ is_a: MONDO:0015797 {source="DC-OMIM:614621", source="MONDO:Redundant", source=" intersection_of: MONDO:0015797 ! UV-sensitive syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3439 ! ERCC8 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614621"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3439 {source="MONDO:mim2gene_medgen"} ! ERCC8 [Term] id: MONDO:0013830 @@ -317447,9 +315742,9 @@ xref: Orphanet:178338 {source="OMIM:614640"} xref: UMLS:C3553328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766242"} is_a: MONDO:0015797 {source="DC-OMIM:614640", source="MONDO:Redundant", source="OMIM:614640"} ! UV-sensitive syndrome intersection_of: MONDO:0015797 ! UV-sensitive syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29304 ! UVSSA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29304 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614640"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29304 {source="MONDO:mim2gene_medgen"} ! UVSSA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29304 {source="OMIM:614640"} [Term] id: MONDO:0013835 @@ -317473,7 +315768,6 @@ xref: UMLS:C3553330 {source="MEDGEN:766244", source="MONDO:equivalentTo", source is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:614643", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37276 ! CRPPA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37276 {source="MONDO:mim2gene_medgen"} ! CRPPA [Term] id: MONDO:0013836 @@ -317496,7 +315790,7 @@ xref: Orphanet:280406 {source="MONDO:equivalentTo", source="OMIM:614650"} xref: UMLS:C3553349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766263"} is_a: MONDO:0018151 {source="DC-OMIM:614650", source="DOID:0070243", source="OMIM:614650", source="Orphanet:280406"} ! coenzyme Q10 deficiency is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20233 {source="MONDO:mim2gene_medgen"} ! COQ6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20233 {source="OMIM:614650"} [Term] id: MONDO:0013837 @@ -317520,7 +315814,7 @@ xref: OMIM:614651 {source="MONDO:equivalentTo", source="Orphanet:254898", source xref: Orphanet:254898 {source="OMIM:614651", source="MONDO:equivalentTo"} xref: UMLS:C3553354 {source="MEDGEN:766268", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018151 {source="DC-OMIM:614651", source="DOID:0070239", source="OMIM:614651", source="Orphanet:254898"} ! coenzyme Q10 deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17759 {source="MONDO:mim2gene_medgen"} ! PDSS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17759 {source="OMIM:614651"} [Term] id: MONDO:0013838 @@ -317542,8 +315836,8 @@ xref: Orphanet:255249 {source="OMIM:614652"} xref: UMLS:C3553358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766272"} is_a: MONDO:0018151 {source="DOID:0070240", source="MONDO:Redundant", source="OMIM:614652"} ! coenzyme Q10 deficiency intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23041 ! PDSS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23041 {source="MONDO:mim2gene_medgen"} ! PDSS2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23041 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23041 {source="OMIM:614652"} [Term] id: MONDO:0013839 @@ -317575,7 +315869,6 @@ is_a: MONDO:0015364 {source="DOID:0070151", source="OMIM:614653", source="Orphan intersection_of: MONDO:0015364 ! hereditary sensory and autonomic neuropathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1090 ! DST relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013839 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1090 {source="MONDO:mim2gene_medgen"} ! DST [Term] id: MONDO:0013840 @@ -317598,7 +315891,7 @@ xref: OMIM:614654 {source="Orphanet:319678/e", source="MONDO:equivalentTo", sour xref: Orphanet:319678 {source="OMIM:614654", source="MONDO:equivalentTo"} xref: UMLS:C3553374 {source="MEDGEN:766288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018151 {source="DC-OMIM:614654", source="DOID:0070242", source="OMIM:614654", source="Orphanet:319678"} ! coenzyme Q10 deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25302 {source="MONDO:mim2gene_medgen"} ! COQ9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25302 {source="OMIM:614654"} [Term] id: MONDO:0013841 @@ -317633,9 +315926,9 @@ xref: Orphanet:168588 {source="OMIM:614662"} xref: UMLS:C3553382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766296"} is_a: MONDO:0000193 {source="DC-OMIM:614662", source="DOID:0090140", source="MONDO:Redundant", source="OMIM:614662", source="Orphanet:168588/btnt"} ! cortisone reductase deficiency intersection_of: MONDO:0000193 ! cortisone reductase deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5208 ! HSD11B1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5208 relationship: disease_has_basis_in_disruption_of GO:0003845 ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)+] activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5208 {source="MONDO:mim2gene_medgen"} ! HSD11B1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5208 {source="OMIM:614662"} [Term] id: MONDO:0013843 @@ -317662,7 +315955,6 @@ xref: UMLS:C4518781 {source="MEDGEN:1390359", source="MONDO:equivalentTo", sourc is_a: MONDO:0021189 {source="Orphanet:314376"} ! intestinal motility disease intersection_of: MONDO:0054868 ! meconium ileus intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4688 ! GUCY2C -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4688 {source="MONDO:mim2gene_medgen"} ! GUCY2C property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -317696,7 +315988,6 @@ xref: UMLS:C3553404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000107 {source="DC-OMIM:614669", source="MONDO:Redundant", source="OMIM:614669"} ! auriculocondylar syndrome intersection_of: MONDO:0000107 ! auriculocondylar syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9059 ! PLCB4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9059 {source="MONDO:mim2gene_medgen"} ! PLCB4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -317771,7 +316062,7 @@ xref: OMIM:614672 {source="MONDO:equivalentTo", source="DOID:0110441"} xref: Orphanet:154 {source="OMIM:614672"} xref: UMLS:C3553409 {source="MEDGEN:766323", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:614672"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29941 {source="MONDO:mim2gene_medgen"} ! GATAD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29941 {source="OMIM:614672"} [Term] id: MONDO:0013849 @@ -317792,8 +316083,8 @@ xref: Orphanet:2512 {source="OMIM:614673"} xref: UMLS:C3553414 {source="MEDGEN:766328", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016660 {source="DC-OMIM:614673", source="DOID:0070282", source="MONDO:Redundant", source="OMIM:614673"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29086 ! CEP135 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29086 {source="MONDO:mim2gene_medgen"} ! CEP135 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29086 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29086 {source="OMIM:614673"} [Term] id: MONDO:0013850 @@ -317826,7 +316117,7 @@ xref: Orphanet:314399 {source="OMIM:614675", source="MONDO:equivalentTo"} xref: UMLS:C3808553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:814883"} is_a: MONDO:0000159 {source="DC-OMIM:614675", source="OMIM:614675"} ! bone marrow failure syndrome is_a: MONDO:0001713 {source="Orphanet:314399"} ! inherited aplastic anemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11303 {source="MONDO:mim2gene_medgen"} ! SRP72 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11303 {source="OMIM:614675"} [Term] id: MONDO:0013852 @@ -317870,8 +316161,8 @@ xref: UMLS:C3553449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016396 {source="DOID:0060266", source="Orphanet:2254/btnt"} ! pontocerebellar hypoplasia type 1 is_a: MONDO:0020135 {source="DOID:0060266", source="MONDO:Redundant", source="OMIM:614678"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17944 ! EXOSC3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17944 {source="MONDO:mim2gene_medgen"} ! EXOSC3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17944 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17944 {source="OMIM:614678"} [Term] id: MONDO:0013854 @@ -317898,9 +316189,9 @@ xref: OMIM:614679 {source="DOID:0110621", source="MONDO:equivalentTo"} xref: UMLS:C3542550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762261"} is_a: MONDO:0016575 {source="DC-OMIM:614679", source="DOID:0110621", source="MONDO:Redundant", source="OMIM:614679"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32700 ! CCDC103 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32700 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013854 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32700 {source="MONDO:mim2gene_medgen"} ! CCDC103 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32700 {source="OMIM:614679"} [Term] id: MONDO:0013855 @@ -317912,7 +316203,7 @@ xref: MEDGEN:766376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614680 {source="MONDO:equivalentTo"} xref: UMLS:C3553462 {source="MEDGEN:766376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:614680"} ! inherited disease susceptibility -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5414 {source="MONDO:mim2gene_medgen"} ! IFITM3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5414 {source="OMIM:614680"} relationship: predisposes_towards MONDO:0005812 ! influenza [Term] @@ -317985,7 +316276,6 @@ is_a: MONDO:0005129 {source="DOID:0110245", source="MONDO:DOID", source="MONDO:R is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21869 ! AGK -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21869 {source="MONDO:mim2gene_medgen"} ! AGK property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -318017,7 +316307,6 @@ xref: SCTID:722119002 {source="MONDO:equivalentTo"} xref: UMLS:C0086445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39226"} is_a: MONDO:0005376 {source="NCIT:C123060"} ! membranous glomerulonephritis relationship: has_characteristic MONDO:0700005 ! idiopathic -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7154 {source="MONDO:mim2gene_medgen"} ! MME [Term] id: MONDO:0013861 @@ -318047,7 +316336,6 @@ xref: Orphanet:1572 {source="OMIM:614699"} xref: UMLS:C3542922 {source="MEDGEN:762276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015517 {source="DC-OMIM:614699", source="DOID:0081150", source="OMIM:614699"} ! common variable immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013862 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2336 {source="MONDO:mim2gene_medgen"} ! CR2 [Term] id: MONDO:0013863 @@ -318080,7 +316368,7 @@ relationship: excluded_subClassOf MONDO:0015126 {source="Orphanet:445018", sourc relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:445018", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency relationship: excluded_subClassOf MONDO:0019126 {source="Orphanet:445018", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete intractable diarrhea of infancy relationship: excluded_subClassOf MONDO:0019787 {source="Orphanet:445018", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune enteropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1742 {source="MONDO:mim2gene_medgen"} ! LRBA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1742 {source="OMIM:614700"} [Term] id: MONDO:0013864 @@ -318105,7 +316393,6 @@ is_a: MONDO:0016033 {source="DC-OMIM:614701", source="DOID:0080508", source="MON is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0016033 ! Cornelia de Lange syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9811 ! RAD21 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9811 {source="MONDO:mim2gene_medgen"} ! RAD21 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -318136,8 +316423,8 @@ xref: UMLS:C4749921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000732 {source="DC-OMIM:614702", source="DOID:0111480", source="MONDO:Redundant", source="OMIM:614702"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0044970 {source="Orphanet:314637", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19261 {source="MONDO:mim2gene_medgen"} ! MTO1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19261 {source="MONDO:mim2gene_medgen"} ! MTO1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19261 {source="MONDO:mim2gene_medgen"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19261 {source="OMIM:614702"} [Term] id: MONDO:0013866 @@ -318171,7 +316458,6 @@ is_a: MONDO:0016295 {source="DOID:0110732", source="MONDO:Redundant", source="OM is_a: MONDO:0019260 {source="Orphanet:314629"} ! adult neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4601 ! GRN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4601 {source="MONDO:mim2gene_medgen"} ! GRN [Term] id: MONDO:0013867 @@ -318198,9 +316484,9 @@ xref: Orphanet:97229 {source="OMIM:614707"} xref: UMLS:C3553538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766452"} is_a: MONDO:0008891 {source="DOID:0080786", source="OMIM:614707", source="Orphanet:572550", source="Orphanet:97229/btnt"} ! riboflavin transporter deficiency intersection_of: MONDO:0008891 ! riboflavin transporter deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30224 ! SLC52A2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30224 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013867 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30224 {source="MONDO:mim2gene_medgen"} ! SLC52A2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30224 {source="OMIM:614707"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12861/brown-vialetto-van-laere-syndrome-2" xsd:anyURI {source="GARD:0012861"} [Term] @@ -318219,7 +316505,7 @@ xref: Orphanet:79152 {source="OMIM:614714"} xref: UMLS:C3553549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766463"} is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:614714"} ! porokeratosis is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7529 {source="MONDO:mim2gene_medgen"} ! MVD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7529 {source="OMIM:614714"} [Term] id: MONDO:0013869 @@ -318256,7 +316542,7 @@ xref: UMLS:C0268120 {source="MEDGEN:82772", source="MONDO:equivalentTo", source= is_a: MONDO:0004736 {source="DOID:0060350"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019236 {source="Orphanet:976"} ! inborn disorder of purine metabolism relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:976", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/626 {source="MONDO:mim2gene_medgen"} ! APRT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/626 {source="OMIM:614723"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria" xsd:anyURI {source="GARD:0010666"} [Term] @@ -318296,7 +316582,7 @@ is_a: MONDO:0017740 {source="Orphanet:314667"} ! disorder of protein N-glycosyla relationship: disease_has_feature HP:0004349 {source="Orphanet:314667"} ! Reduced bone mineral density relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:314667", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30760 {source="MONDO:mim2gene_medgen"} ! TMEM165 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30760 {source="OMIM:614727"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -318317,9 +316603,9 @@ xref: OMIM:614728 {source="MONDO:equivalentTo", source="DOID:0070006"} xref: UMLS:C3553582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766496"} is_a: MONDO:0019342 {source="DC-OMIM:614728", source="DOID:0070006", source="MONDO:Redundant", source="OMIM:614728"} ! Seckel syndrome intersection_of: MONDO:0019342 ! Seckel syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25815 ! CEP63 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25815 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614728"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25815 {source="MONDO:mim2gene_medgen"} ! CEP63 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25815 {source="OMIM:614728"} [Term] id: MONDO:0013872 @@ -318340,7 +316626,6 @@ xref: UMLS:C3539120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0008315 {source="DC-OMIM:614731", source="MONDO:0013872/inferred", source="MONDO:Redundant"} ! prostate cancer intersection_of: MONDO:0700275 ! prostate cancer, hereditary intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14198 ! ELAC2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14198 {source="MONDO:mim2gene_medgen"} ! ELAC2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -318377,7 +316662,6 @@ relationship: excluded_subClassOf MONDO:0005495 {source="Orphanet:85173", source relationship: excluded_subClassOf MONDO:0015129 {source="Orphanet:85173", source="https://orcid.org/0000-0001-5208-3432"} ! chronic primary adrenal insufficiency relationship: excluded_subClassOf MONDO:0015620 {source="Orphanet:85173", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic urogenital tract malformation relationship: excluded_subClassOf MONDO:0019699 {source="Orphanet:85173", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete slender bone dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1786 {source="MONDO:mim2gene_medgen"} ! CDKN1C property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12312/image-syndrome" xsd:anyURI {source="GARD:0012312"} @@ -318403,8 +316687,8 @@ xref: Orphanet:361 {source="OMIM:614736"} xref: UMLS:C3553587 {source="MEDGEN:766501", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008733 {source="MONDO:Redundant", source="OMIM:614736", source="Orphanet:361/btnt"} ! familial glucocorticoid deficiency intersection_of: MONDO:0008733 ! familial glucocorticoid deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7863 ! NNT -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7863 {source="MONDO:mim2gene_medgen"} ! NNT +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7863 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7863 {source="OMIM:614736"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -318445,9 +316729,9 @@ is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids b is_a: MONDO:0044970 ! mitochondrial disease is_a: MONDO:0100548 {source="https://orcid.org/0000-0002-9698-992X"} ! SERAC1-related neurological disorder intersection_of: MONDO:0017359 ! 3-methylglutaconic aciduria -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21061 ! SERAC1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21061 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21061 {source="MONDO:mim2gene_medgen"} ! SERAC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21061 {source="OMIM:614739"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7274" xsd:anyURI [Term] @@ -318471,7 +316755,6 @@ is_a: MONDO:0100047 {source="https://orcid.org/0000-0001-5208-3432"} ! basal cel intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11998 ! TP53 intersection_of: predisposes_towards MONDO:0005341 ! skin basal cell carcinoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11998 {source="MONDO:mim2gene_medgen"} ! TP53 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -318498,7 +316781,7 @@ is_a: MONDO:0004069 {source="DOID:0080363", source="https://github.com/monarch-i is_a: MONDO:0006025 {source="DOID:0080363"} ! autosomal recessive disease is_a: MONDO:0016789 {source="Orphanet:447784"} ! pyruvate metabolism disorder relationship: has_characteristic HP:0000007 {source="PMID:22628558"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21606 {source="MONDO:mim2gene_medgen"} ! MPC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21606 {source="OMIM:614741"} [Term] id: MONDO:0013878 @@ -318523,7 +316806,6 @@ is_a: MONDO:0000148 {source="DC-OMIM:614742", source="MONDO:Redundant", source=" intersection_of: MONDO:0000148 ! pulmonary fibrosis and/or bone marrow failure, telomere-related intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11730 ! TERT relationship: excluded_subClassOf MONDO:0008345 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete idiopathic pulmonary fibrosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11730 {source="MONDO:mim2gene_medgen"} ! TERT [Term] id: MONDO:0013879 @@ -318546,7 +316828,6 @@ is_a: MONDO:0000148 {source="DC-OMIM:614743", source="MONDO:Redundant", source=" is_a: MONDO:0100137 {source="https://github.com/monarch-initiative/mondo/issues/1631#issuecomment-641087429"} ! telomere syndrome intersection_of: MONDO:0000148 ! pulmonary fibrosis and/or bone marrow failure, telomere-related intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11727 ! TERC -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11727 {source="MONDO:mim2gene_medgen"} ! TERC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -318568,9 +316849,9 @@ xref: Orphanet:306530 {source="OMIM:614744"} xref: UMLS:C3553625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766539"} is_a: MONDO:0017627 {source="MONDO:Redundant", source="Orphanet:306530/btnt"} ! congenital hereditary facial paralysis-variable hearing loss syndrome intersection_of: MONDO:0017627 ! congenital hereditary facial paralysis-variable hearing loss syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5111 ! HOXB1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5111 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5111 {source="MONDO:mim2gene_medgen"} ! HOXB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5111 {source="OMIM:614744"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -318604,7 +316885,7 @@ relationship: excluded_subClassOf MONDO:0005087 {source="MONDO:Redundant", sourc relationship: excluded_subClassOf MONDO:0017015 {source="Orphanet:306504", source="https://orcid.org/0000-0001-5208-3432"} ! primary interstitial lung disease specific to childhood relationship: excluded_subClassOf MONDO:0019723 {source="Orphanet:306504", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disease of glomerular basement membrane relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6139 {source="MONDO:mim2gene_medgen"} ! ITGA3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6139 {source="OMIM:614748"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -318630,8 +316911,8 @@ xref: Orphanet:247262 {source="OMIM:614749"} xref: UMLS:C3553637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766551"} is_a: MONDO:0016596 {source="DOID:0070434", source="MONDO:Redundant", source="OMIM:614749", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23215 ! PIGO -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23215 {source="MONDO:mim2gene_medgen"} ! PIGO +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23215 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23215 {source="OMIM:614749"} [Term] id: MONDO:0013883 @@ -318660,7 +316941,6 @@ xref: Orphanet:590 {source="OMIM:614750"} xref: UMLS:C3553645 {source="MEDGEN:766559", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000182 {source="DC-OMIM:614750", source="OMIM:614750"} ! congenital myasthenic syndrome with tubular aggregates relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2995 {source="MONDO:mim2gene_medgen"} ! DPAGT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -318688,7 +316968,6 @@ is_a: MONDO:0100350 {source="DC-OMIM:614751", source="MONDO:Redundant"} ! neuron intersection_of: MONDO:0100350 ! neuronopathy, distal hereditary motor, type 5 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25786 ! REEP1 relationship: excluded_subClassOf MONDO:0015353 {source="Orphanet:139536/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! neuronopathy, distal hereditary motor, type 5A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25786 {source="MONDO:mim2gene_medgen"} ! REEP1 [Term] id: MONDO:0013885 @@ -318719,7 +316998,6 @@ is_a: MONDO:0015160 {source="Orphanet:420179"} ! multiple congenital anomalies/d is_a: MONDO:0019716 {source="Orphanet:420179", source="https://orcid.org/0000-0001-5208-3432"} ! overgrowth syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013885 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0019349 {source="OMIM:614753", source="https://orcid.org/0000-0001-5208-3432"} ! Sotos syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7788 {source="MONDO:mim2gene_medgen"} ! NFIX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6321" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -318754,7 +317032,7 @@ xref: SCTID:723441001 {source="MONDO:equivalentTo"} xref: UMLS:C3553661 {source="MEDGEN:766575", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019792 {source="Orphanet:314647"} ! autosomal dominant cerebellar ataxia type I relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013886 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18806 {source="MONDO:mim2gene_medgen"} ! CAMTA1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18806 {source="OMIM:614756"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6163" xsd:anyURI @@ -318773,7 +317051,7 @@ xref: Orphanet:450 {source="OMIM:614779"} xref: UMLS:C3553676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766590"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018677 {source="DC-OMIM:614779", source="OMIM:614779"} ! visceral heterotaxy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26530 {source="MONDO:mim2gene_medgen"} ! CFAP53 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26530 {source="OMIM:614779"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -318795,7 +317073,6 @@ is_a: MONDO:0003233 {source="DC-OMIM:614782", source="DOID:0111431", source="MON is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003233 ! essential tremor intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4010 ! FUS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4010 {source="MONDO:mim2gene_medgen"} ! FUS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -318822,7 +317099,6 @@ xref: Orphanet:391677 {source="MONDO:equivalentTo", source="OMIM:614800"} xref: UMLS:C3541319 {source="MEDGEN:762020", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:391677", source="Orphanet:391677/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15625 {source="MONDO:mim2gene_medgen"} ! NBAS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -318849,7 +317125,7 @@ xref: Orphanet:319160 {source="MONDO:equivalentTo", source="OMIM:614807"} xref: SCTID:764945007 {source="MONDO:equivalentTo"} xref: UMLS:C4707232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642424"} is_a: MONDO:0018947 {source="DC-OMIM:614807", source="OMIM:614807", source="Orphanet:319160"} ! centronuclear myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14153 {source="MONDO:mim2gene_medgen"} ! CCDC78 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14153 {source="OMIM:614807"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -318874,9 +317150,9 @@ xref: Orphanet:803 {source="OMIM:614808"} xref: UMLS:C3553719 {source="MEDGEN:766633", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005144 {source="DOID:0060209", source="MONDO:Redundant", source="OMIM:614808"} ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8881 ! PFN1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8881 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013891 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8881 {source="MONDO:mim2gene_medgen"} ! PFN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8881 {source="OMIM:614808"} [Term] id: MONDO:0013892 @@ -318902,7 +317178,7 @@ xref: Orphanet:54370 {source="OMIM:614809"} xref: UMLS:C4055342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:884569"} is_a: MONDO:0002462 {source="MONDO:Redundant", source="NCIT:C123043"} ! glomerulonephritis is_a: MONDO:0018013 {source="Orphanet:329931"} ! non-immunoglobulin-mediated membranoproliferative glomerulonephritis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24668 {source="MONDO:mim2gene_medgen"} ! CFHR5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24668 {source="OMIM:614809"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -318924,7 +317200,6 @@ is_a: MONDO:0007462 {source="MONDO:Redundant", source="OMIM:614810"} ! multiple is_a: MONDO:0020573 {source="OMIM:614810"} ! inherited disease susceptibility intersection_of: MONDO:0007462 ! multiple sclerosis, susceptibility to intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11916 ! TNFRSF1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11916 {source="MONDO:mim2gene_medgen"} ! TNFRSF1A relationship: predisposes_towards MONDO:0005301 ! multiple sclerosis [Term] @@ -318950,7 +317225,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0018230 {source="PMID:26791357", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia is_a: MONDO:0800063 {source="PMID:26791357", source="https://orcid.org/0009-0001-6494-4831"} ! primordial dwarfism and slender bone disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24488 {source="MONDO:mim2gene_medgen"} ! POC1A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24488 {source="OMIM:614813"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -318974,8 +317249,8 @@ xref: UMLS:C3553748 {source="MEDGEN:766662", source="MONDO:equivalentTo", source is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:614814", source="Orphanet:974/btnt"} ! Adams-Oliver syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0007034 ! Adams-Oliver syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5724 ! RBPJ -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5724 {source="MONDO:mim2gene_medgen"} ! RBPJ +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5724 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5724 {source="OMIM:614814"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -318999,7 +317274,6 @@ xref: UMLS:C3553758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018772 {source="DOID:0110987", source="MONDO:Redundant", source="OMIM:614815"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24519 ! TCTN3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24519 {source="MONDO:mim2gene_medgen"} ! TCTN3 [Term] id: MONDO:0013897 @@ -319022,9 +317296,9 @@ xref: Orphanet:91387 {source="OMIM:614816"} xref: UMLS:C3553762 {source="MEDGEN:766676", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018954 {source="DOID:0070233", source="MONDO:Redundant", source="OMIM:614816"} ! Loeys-Dietz syndrome intersection_of: MONDO:0018954 ! Loeys-Dietz syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11768 ! TGFB2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11768 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614816"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11768 {source="MONDO:mim2gene_medgen"} ! TGFB2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11768 {source="OMIM:614816"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -319055,9 +317329,9 @@ xref: UMLS:C3553774 {source="MEDGEN:766688", source="MONDO:equivalentTo", source is_a: MONDO:0001085 {source="DOID:0060911", source="MONDO:Redundant"} ! interstitial nephritis is_a: MONDO:0005334 {source="https://orcid.org/0000-0001-6330-7526"} ! hereditary nephritis intersection_of: MONDO:0001085 ! interstitial nephritis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29170 ! FAN1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29170 relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:401996", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29170 {source="MONDO:mim2gene_medgen"} ! FAN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29170 {source="OMIM:614817"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6646" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11003/karyomegalic-interstitial-nephritis" xsd:anyURI {source="GARD:0011003"} @@ -319084,7 +317358,6 @@ is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia is_a: MONDO:0100236 {source="https://clinicalgenome.org/affiliation/40077/"} ! LTBP2-related ocular dysgenesis intersection_of: MONDO:0018096 ! Weill-Marchesani syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6715 ! LTBP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6715 {source="MONDO:mim2gene_medgen"} ! LTBP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5787" xsd:anyURI @@ -319108,7 +317381,6 @@ xref: UMLS:C3553788 {source="MEDGEN:766702", source="MONDO:equivalentTo", source is_a: MONDO:0016241 {source="DC-OMIM:614820", source="MONDO:Redundant", source="OMIM:614820"} ! alternating hemiplegia of childhood intersection_of: MONDO:0016241 ! alternating hemiplegia of childhood intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/801 ! ATP1A3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/801 {source="MONDO:mim2gene_medgen"} ! ATP1A3 [Term] id: MONDO:0013901 @@ -319131,9 +317403,9 @@ xref: UMLS:C3553793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004983 {source="DC-OMIM:614822", source="DOID:0070178", source="MONDO:Redundant", source="OMIM:614822"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26348 ! SEPTIN12 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26348 ! SEPTIN12 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26348 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26348 {source="MONDO:mim2gene_medgen"} ! SEPTIN12 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26348 {source="MONDO:mim2gene_medgen"} ! SEPTIN12 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26348 {source="OMIM:614822"} [Term] id: MONDO:0013902 @@ -319159,7 +317431,6 @@ is_a: MONDO:0003803 {source="MONDO:Redundant", source="OMIM:614823"} ! aortic va is_a: MONDO:0007194 {source="DOID:0080334", source="OMIM:614823", source="Orphanet:402075/btnt"} ! familial bicuspid aortic valve intersection_of: MONDO:0003803 ! aortic valve disorder intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6772 ! SMAD6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6772 {source="MONDO:mim2gene_medgen"} ! SMAD6 [Term] id: MONDO:0013903 @@ -319199,7 +317470,6 @@ is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:614830", source="Orp is_a: MONDO:0700069 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT2 intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25902 ! POMGNT2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25902 {source="MONDO:mim2gene_medgen"} ! POMGNT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -319233,7 +317503,6 @@ xref: UMLS:C3553816 {source="MEDGEN:766730", source="MONDO:equivalentTo", source is_a: MONDO:0018189 {source="MONDO:Redundant", source="Orphanet:324262"} ! autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome intersection_of: MONDO:0018189 ! autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4593 ! GRM1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4593 {source="MONDO:mim2gene_medgen"} ! GRM1 [Term] id: MONDO:0013906 @@ -319260,8 +317529,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110062", source="MONDO:Redundant", source="OMIM:614832"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26300 ! ODAPH -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26300 {source="MONDO:mim2gene_medgen"} ! ODAPH +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26300 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26300 {source="OMIM:614832"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -319288,7 +317557,6 @@ xref: Orphanet:268940 {source="OMIM:614833"} xref: UMLS:C5139324 {source="MEDGEN:1684616", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017091 {source="Orphanet:208447"} ! bilateral polymicrogyria is_a: MONDO:0018764 ! microcephalic primordial dwarfism due to RTTN deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18654 {source="MONDO:mim2gene_medgen"} ! RTTN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria" xsd:anyURI {source="GARD:0010786"} @@ -319342,7 +317610,6 @@ is_a: MONDO:0018555 {source="DOID:0090074", source="MONDO:Redundant", source="OM is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4510 ! KISS1R -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4510 {source="MONDO:mim2gene_medgen"} ! KISS1R [Term] id: MONDO:0013911 @@ -319363,8 +317630,8 @@ xref: UMLS:C3553842 {source="MONDO:equivalentTo", source="MEDGEN:766756", source is_a: MONDO:0018555 {source="DOID:0090085", source="MONDO:Redundant", source="OMIM:614838"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29843 ! NSMF -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29843 {source="MONDO:mim2gene_medgen"} ! NSMF +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29843 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29843 {source="OMIM:614838"} [Term] id: MONDO:0013912 @@ -319384,8 +317651,8 @@ xref: OMIM:614839 {source="DOID:0090089", source="MONDO:equivalentTo"} xref: UMLS:C3553843 {source="MEDGEN:766757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018555 {source="DOID:0090089", source="MONDO:Redundant", source="OMIM:614839"} ! hypogonadotropic hypogonadism intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11521 ! TAC3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11521 {source="MONDO:mim2gene_medgen"} ! TAC3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11521 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11521 {source="OMIM:614839"} [Term] id: MONDO:0013913 @@ -319406,8 +317673,8 @@ xref: UMLS:C3553844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018555 {source="DOID:0090071", source="MONDO:Redundant", source="OMIM:614840"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11528 ! TACR3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11528 {source="MONDO:mim2gene_medgen"} ! TACR3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11528 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11528 {source="OMIM:614840"} [Term] id: MONDO:0013914 @@ -319435,6 +317702,7 @@ xref: OMIM:614841 {source="MONDO:equivalentTo", source="DOID:0090072"} xref: Orphanet:1958 {source="GARD:0000276"} xref: UMLS:C1856897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347328"} is_a: MONDO:0018555 {source="DOID:0090072", source="OMIM:614841"} ! hypogonadotropic hypogonadism +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4419 {source="OMIM:614841"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/276/eunuchoidism-familial-hypogonadotropic" xsd:anyURI {source="GARD:0000276"} [Term] @@ -319455,8 +317723,8 @@ xref: OMIM:614842 {source="DOID:0090073", source="MONDO:equivalentTo"} xref: UMLS:C3541462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762090"} is_a: MONDO:0018555 {source="DOID:0090073", source="MONDO:Redundant", source="OMIM:614842"} ! hypogonadotropic hypogonadism intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6341 ! KISS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6341 {source="MONDO:mim2gene_medgen"} ! KISS1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6341 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6341 {source="OMIM:614842"} [Term] id: MONDO:0013916 @@ -319480,7 +317748,6 @@ is_a: MONDO:0019005 {source="DC-OMIM:614844", source="DOID:0111122", source="MON intersection_of: MONDO:0019005 ! nephronophthisis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16762 ! ZNF423 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614844"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16762 {source="MONDO:mim2gene_medgen"} ! ZNF423 [Term] id: MONDO:0013917 @@ -319503,9 +317770,9 @@ xref: UMLS:C3541853 {source="MEDGEN:762112", source="MONDO:equivalentTo", source is_a: MONDO:0017842 {source="Orphanet:3156/btnt"} ! Senior-Loken syndrome is_a: MONDO:0019005 {source="DC-OMIM:614845", source="DOID:0111123", source="MONDO:Redundant", source="OMIM:614845"} ! nephronophthisis intersection_of: MONDO:0019005 ! nephronophthisis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29182 ! CEP164 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29182 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614845"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29182 {source="MONDO:mim2gene_medgen"} ! CEP164 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29182 {source="OMIM:614845"} [Term] id: MONDO:0013918 @@ -319568,11 +317835,11 @@ xref: OMIM:614849 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="OMIM:614849"} xref: UMLS:C3553868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766782"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12033 ! TRAF3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12033 intersection_of: predisposes_towards MONDO:0100198 ! Mendelian encephalopathy relationship: excluded_subClassOf MONDO:0000166 {source="OMIM:614849", source="https://orcid.org/0000-0001-5208-3432"} ! encephalopathy, acute, infection-induced relationship: excluded_subClassOf MONDO:0012521 {source="Orphanet:1930", source="https://orcid.org/0000-0001-5208-3432"} ! herpes simplex encephalitis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12033 {source="MONDO:mim2gene_medgen"} ! TRAF3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12033 {source="OMIM:614849"} relationship: predisposes_towards MONDO:0100198 {source="OMIM:614849"} ! Mendelian encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -319594,11 +317861,11 @@ xref: OMIM:614850 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="OMIM:614850"} xref: UMLS:C3553869 {source="MEDGEN:766783", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18348 ! TICAM1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18348 intersection_of: predisposes_towards MONDO:0100198 ! Mendelian encephalopathy relationship: excluded_subClassOf MONDO:0000166 {source="OMIM:614850", source="https://orcid.org/0000-0001-5208-3432"} ! encephalopathy, acute, infection-induced relationship: excluded_subClassOf MONDO:0012521 {source="Orphanet:1930/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! herpes simplex encephalitis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18348 {source="MONDO:mim2gene_medgen"} ! TICAM1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18348 {source="OMIM:614850"} relationship: predisposes_towards MONDO:0100198 {source="OMIM:614850"} ! Mendelian encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI @@ -319630,9 +317897,9 @@ xref: Orphanet:319675 {source="OMIM:614851", source="MONDO:equivalentTo"} xref: UMLS:C3553870 {source="MEDGEN:766784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019342 {source="DC-OMIM:614851", source="DOID:0070011", source="MONDO:Redundant", source="OMIM:614851"} ! Seckel syndrome intersection_of: MONDO:0019342 ! Seckel syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14906 ! NIN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14906 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614851"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14906 {source="MONDO:mim2gene_medgen"} ! NIN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14906 {source="OMIM:614851"} [Term] id: MONDO:0013923 @@ -319653,7 +317920,6 @@ xref: UMLS:C3553886 {source="MONDO:equivalentTo", source="MEDGEN:766800", source is_a: MONDO:0016660 {source="DC-OMIM:614852", source="DOID:0070292", source="MONDO:Redundant", source="OMIM:614852"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29298 ! CEP152 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29298 {source="MONDO:mim2gene_medgen"} ! CEP152 [Term] id: MONDO:0013924 @@ -319677,8 +317943,8 @@ xref: Orphanet:216812 {source="OMIM:614856", source="MONDO:directSiblingOf"} xref: UMLS:C3553887 {source="MEDGEN:766801", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019019 {source="DC-OMIM:614856", source="DOID:0110342", source="MONDO:Redundant", source="OMIM:614856"} ! osteogenesis imperfecta intersection_of: MONDO:0019019 ! osteogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1067 ! BMP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1067 {source="MONDO:mim2gene_medgen"} ! BMP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1067 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1067 {source="OMIM:614856"} [Term] id: MONDO:0013925 @@ -319703,7 +317969,7 @@ xref: Orphanet:26 {source="OMIM:614857"} xref: Orphanet:369955 {source="MONDO:equivalentTo", source="OMIM:614857"} xref: UMLS:C3553915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766829"} is_a: MONDO:0016826 {source="DC-OMIM:614857", source="OMIM:614857", source="Orphanet:369955"} ! methylmalonic aciduria and homocystinuria -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/68 {source="MONDO:mim2gene_medgen"} ! ABCD4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/68 {source="OMIM:614857"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj" xsd:anyURI {source="GARD:0012621"} [Term] @@ -319727,7 +317993,6 @@ is_a: MONDO:0018555 {source="DOID:0090087", source="MONDO:Redundant", source="OM is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13831 ! WDR11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13831 {source="MONDO:mim2gene_medgen"} ! WDR11 [Term] id: MONDO:0013927 @@ -319750,7 +318015,6 @@ xref: UMLS:C3553929 {source="MEDGEN:766843", source="MONDO:equivalentTo", source is_a: MONDO:0100266 {source="DC-OMIM:614859", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX12 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013927/inferred", source="MONDO:Redundant", source="OMIM:614859", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8854 {source="MONDO:mim2gene_medgen"} ! PEX12 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -319781,7 +318045,6 @@ is_a: MONDO:0015990 {source="Orphanet:420492"} ! focal, segmental or multifocal is_a: MONDO:0044807 {source="DOID:0090051/inferred", source="MONDO:Redundant", source="OMIM:614860"} ! inherited dystonia intersection_of: MONDO:0044807 ! inherited dystonia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1389 ! CACNA1B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1389 {source="MONDO:mim2gene_medgen"} ! CACNA1B [Term] id: MONDO:0013929 @@ -319808,7 +318071,6 @@ xref: UMLS:C3553932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019588 {source="DC-OMIM:614861", source="DOID:0110540", source="MONDO:Redundant", source="OMIM:614861"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1268 ! TSPEAR -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1268 {source="MONDO:mim2gene_medgen"} ! TSPEAR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -319836,7 +318098,6 @@ is_a: MONDO:0100263 {source="DC-OMIM:614862", source="MONDO:ORDO-Gene", source=" relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013930/inferred", source="MONDO:Redundant", source="OMIM:614862", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic HP:0012828 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Severe relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8859 {source="MONDO:mim2gene_medgen"} ! PEX6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -319862,7 +318123,6 @@ is_a: MONDO:0100263 {source="https://www.clinicalgenome.org/affiliation/40049/"} relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614863", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic HP:0012826 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Moderate relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8859 {source="MONDO:mim2gene_medgen"} ! PEX6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -319886,7 +318146,6 @@ xref: UMLS:C3553940 {source="MEDGEN:766854", source="MONDO:equivalentTo", source is_a: MONDO:0100260 {source="DC-OMIM:614866", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX2 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013932/inferred", source="MONDO:Redundant", source="OMIM:614866", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9717 {source="MONDO:mim2gene_medgen"} ! PEX2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -319909,7 +318168,6 @@ xref: UMLS:C3542026 {source="MONDO:equivalentTo", source="MEDGEN:762202", source is_a: MONDO:0100260 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX2 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614867", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9717 {source="MONDO:mim2gene_medgen"} ! PEX2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -319938,7 +318196,7 @@ xref: UMLS:C3553943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015131 {source="https://orcid.org/0000-0001-5208-3432"} ! combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013934 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:314689", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11408 {source="MONDO:mim2gene_medgen"} ! STK4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11408 {source="OMIM:614868"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -319967,7 +318225,6 @@ is_a: MONDO:0019501 {source="DOID:0110836/inferred", source="MONDO:Redundant", s intersection_of: MONDO:0019501 ! Usher syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24579 ! CIB2 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614869"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24579 {source="MONDO:mim2gene_medgen"} ! CIB2 [Term] id: MONDO:0013936 @@ -319991,7 +318248,6 @@ xref: UMLS:C3553947 {source="MEDGEN:766861", source="MONDO:equivalentTo", source is_a: MONDO:0100264 {source="DC-OMIM:614870", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX10 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013936/inferred", source="MONDO:Redundant", source="OMIM:614870", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8851 {source="MONDO:mim2gene_medgen"} ! PEX10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -320015,7 +318271,6 @@ xref: UMLS:C3553948 {source="MEDGEN:766862", source="MONDO:equivalentTo", source is_a: MONDO:0100264 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX10 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614871", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8851 {source="MONDO:mim2gene_medgen"} ! PEX10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -320038,7 +318293,6 @@ is_a: MONDO:0100271 {source="DC-OMIM:614872", source="MONDO:ORDO-Gene", source=" relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013938/inferred", source="MONDO:Redundant", source="OMIM:614872", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22965 {source="MONDO:mim2gene_medgen"} ! PEX26 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -320060,7 +318314,6 @@ xref: Orphanet:772 {source="OMIM:614873"} xref: UMLS:C3553951 {source="MEDGEN:766865", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100271 {source="MONDO:Redundant", source="OMIM:614873"} ! peroxisome biogenesis disorder due to PEX26 defect relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22965 {source="MONDO:mim2gene_medgen"} ! PEX26 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -320086,8 +318339,8 @@ xref: OMIM:614874 {source="DOID:0110604", source="MONDO:equivalentTo"} xref: UMLS:C3543825 {source="MEDGEN:762331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:614874", source="DOID:0110604", source="MONDO:Redundant", source="OMIM:614874"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26013 ! DNAAF5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26013 {source="MONDO:mim2gene_medgen"} ! DNAAF5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26013 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26013 {source="OMIM:614874"} [Term] id: MONDO:0013941 @@ -320134,7 +318387,6 @@ xref: UMLS:C3553959 {source="MEDGEN:766873", source="MONDO:equivalentTo", source is_a: MONDO:0100269 {source="DC-OMIM:614876", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX16 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013942/inferred", source="MONDO:Redundant", source="OMIM:614876", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8857 {source="MONDO:mim2gene_medgen"} ! PEX16 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -320157,7 +318409,6 @@ xref: UMLS:C3553960 {source="MEDGEN:766874", source="MONDO:equivalentTo", source is_a: MONDO:0100269 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX16 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614877", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8857 {source="MONDO:mim2gene_medgen"} ! PEX16 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -320180,7 +318431,6 @@ xref: OMIM:614878 {source="Orphanet:324530/e", source="MONDO:equivalentTo", sour xref: Orphanet:324530 {source="MONDO:equivalentTo", source="OMIM:614878"} xref: UMLS:C3553961 {source="MEDGEN:766875", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019751 {source="Orphanet:324530"} ! autoinflammatory syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9066 {source="MONDO:mim2gene_medgen"} ! PLCG2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -320206,7 +318456,6 @@ is_a: MONDO:0019609 {source="DC-OMIM:614879"} ! Zellweger spectrum disorders relationship: excluded_subClassOf MONDO:0009958 {source="Orphanet:773/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! adult Refsum disease relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013945/inferred", source="MONDO:Redundant", source="OMIM:614879", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8860 {source="MONDO:mim2gene_medgen"} ! PEX7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -320228,8 +318477,8 @@ xref: UMLS:C3553977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018555 {source="DOID:0090075", source="MONDO:Redundant", source="OMIM:614880"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5201 ! HS6ST1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5201 {source="MONDO:mim2gene_medgen"} ! HS6ST1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5201 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5201 {source="OMIM:614880"} [Term] id: MONDO:0013947 @@ -320257,7 +318506,7 @@ xref: Orphanet:314485 {source="MONDO:equivalentTo", source="OMIM:614881"} xref: UMLS:C4749918 {source="MEDGEN:1667915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001516 {source="DC-OMIM:614881"} ! spinal muscular atrophy is_a: MONDO:0015363 {source="DOID:0111214", source="OMIM:614881", source="Orphanet:314485"} ! neuronopathy, distal hereditary motor, autosomal recessive -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5228 {source="MONDO:mim2gene_medgen"} ! DNAJB2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5228 {source="OMIM:614881"} [Term] id: MONDO:0013948 @@ -320279,7 +318528,6 @@ xref: UMLS:C3553999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0100261 {source="DC-OMIM:614882", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX3 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013948/inferred", source="MONDO:Redundant", source="OMIM:614882", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8858 {source="MONDO:mim2gene_medgen"} ! PEX3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -320301,7 +318549,6 @@ xref: UMLS:C3554000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0100267 {source="DC-OMIM:614883", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX13 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013949/inferred", source="MONDO:Redundant", source="OMIM:614883", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8855 {source="MONDO:mim2gene_medgen"} ! PEX13 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -320324,7 +318571,6 @@ xref: UMLS:C3554001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0100267 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX13 defect relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614885", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8855 {source="MONDO:mim2gene_medgen"} ! PEX13 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -320349,7 +318595,7 @@ is_a: MONDO:0100270 {source="DC-OMIM:614886", source="MONDO:ORDO-Gene", source=" relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013951/inferred", source="MONDO:Redundant", source="OMIM:614886", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9713 {source="MONDO:mim2gene_medgen"} ! PEX19 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9713 {source="OMIM:614886"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -320372,7 +318618,7 @@ is_a: MONDO:0100268 {source="DC-OMIM:614887", source="MONDO:ORDO-Gene", source=" relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013952/inferred", source="MONDO:Redundant", source="OMIM:614887", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8856 {source="MONDO:mim2gene_medgen"} ! PEX14 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8856 {source="OMIM:614887"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -320397,8 +318643,8 @@ xref: UMLS:C4013947 {source="MEDGEN:862384", source="MONDO:equivalentTo", source is_a: MONDO:0003778 {source="DC-OMIM:614889", source="DOID:0111995", source="MONDO:Redundant"} ! inborn error of immunity is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003778 ! inborn error of immunity -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5440 ! IFNGR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5440 {source="MONDO:mim2gene_medgen"} ! IFNGR2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5440 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5440 {source="OMIM:614889"} [Term] id: MONDO:0013954 @@ -320426,7 +318672,7 @@ xref: OMIM:614890 {source="Orphanet:319558/e", source="MONDO:equivalentTo", sour xref: Orphanet:319558 {source="MONDO:equivalentTo", source="OMIM:614890"} xref: UMLS:C4013948 {source="MEDGEN:862385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5970 {source="MONDO:mim2gene_medgen"} ! IL12B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5970 {source="OMIM:614890"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -320456,7 +318702,7 @@ xref: OMIM:614891 {source="MONDO:equivalentTo", source="Orphanet:319552", source xref: Orphanet:319552 {source="MONDO:equivalentTo", source="OMIM:614891"} xref: UMLS:C4013949 {source="MEDGEN:862386", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5971 {source="MONDO:mim2gene_medgen"} ! IL12RB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5971 {source="OMIM:614891"} [Term] id: MONDO:0013956 @@ -320485,7 +318731,6 @@ xref: Orphanet:319595 {source="MONDO:equivalentTo", source="OMIM:614892"} xref: UMLS:C4013950 {source="MEDGEN:862387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases relationship: has_characteristic HP:0000006 {source="OMIM:614892"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11362 {source="MONDO:mim2gene_medgen"} ! STAT1 [Term] id: MONDO:0013957 @@ -320514,7 +318759,6 @@ xref: OMIM:614893 {source="Orphanet:319600/e", source="MONDO:equivalentTo", sour xref: Orphanet:319600 {source="OMIM:614893", source="MONDO:equivalentTo"} xref: UMLS:C3808589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:814919"} is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5358 {source="MONDO:mim2gene_medgen"} ! IRF8 [Term] id: MONDO:0013958 @@ -320554,7 +318798,6 @@ is_a: MONDO:0015626 {source="DOID:0110193/inferred", source="MONDO:Redundant", s is_a: MONDO:0018995 {source="DOID:0110193", source="MONDO:Redundant", source="Orphanet:99952"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13797 ! PRX -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13797 {source="MONDO:mim2gene_medgen"} ! PRX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12441/charcot-marie-tooth-disease-type-4f" xsd:anyURI {source="GARD:0012441"} @@ -320579,7 +318822,6 @@ xref: UMLS:C3554018 {source="MONDO:equivalentTo", source="MEDGEN:766932", source is_a: MONDO:0007263 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiac rhythm disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013960 {source="MONDO:CLINGEN"} relationship: disease_has_feature MONDO:0000469 ! sinoatrial node disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1391 {source="MONDO:mim2gene_medgen"} ! CACNA1D [Term] id: MONDO:0013961 @@ -320600,8 +318842,8 @@ xref: UMLS:C3554021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018555 {source="DOID:0090080", source="MONDO:Redundant", source="OMIM:614897"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10723 ! SEMA3A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10723 {source="MONDO:mim2gene_medgen"} ! SEMA3A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10723 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10723 {source="OMIM:614897"} [Term] id: MONDO:0013962 @@ -320631,7 +318873,7 @@ xref: SCTID:723823004 {source="MONDO:equivalentTo"} xref: UMLS:C3539494 {source="MEDGEN:761340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110805", source="MONDO:Redundant", source="OMIM:614898", source="Orphanet:319199/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24928 {source="MONDO:mim2gene_medgen"} ! VPS37A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24928 {source="OMIM:614898"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -320658,8 +318900,8 @@ xref: OMIM:614899 {source="DOID:0110537", source="MONDO:equivalentTo"} xref: UMLS:C3888355 {source="MEDGEN:854875", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:614899", source="DOID:0110537", source="MONDO:Redundant", source="OMIM:614899"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1385 ! CABP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1385 {source="MONDO:mim2gene_medgen"} ! CABP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1385 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1385 {source="OMIM:614899"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -320686,8 +318928,8 @@ xref: OMIM:614900 {source="MONDO:equivalentTo"} xref: UMLS:C3554042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766956"} is_a: MONDO:0015253 {source="DC-OMIM:614900", source="DOID:0111892", source="MONDO:Redundant", source="OMIM:614900"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10327 ! RPL26 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10327 {source="MONDO:mim2gene_medgen"} ! RPL26 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10327 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10327 {source="OMIM:614900"} [Term] id: MONDO:0013965 @@ -320710,7 +318952,6 @@ xref: UMLS:C3554046 {source="MEDGEN:766960", source="MONDO:equivalentTo", source is_a: MONDO:0017436 {source="DC-OMIM:614915", source="DOID:0060654", source="MONDO:Redundant", source="OMIM:614915"} ! lethal congenital contracture syndrome intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7549 ! MYBPC1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7549 {source="MONDO:mim2gene_medgen"} ! MYBPC1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12645/lethal-congenital-contracture-syndrome-4" xsd:anyURI {source="GARD:0012645"} [Term] @@ -320737,7 +318978,6 @@ xref: UMLS:C3554047 {source="MEDGEN:766961", source="MONDO:equivalentTo", source is_a: MONDO:0017990 {source="DC-OMIM:614916", source="DOID:0060678", source="MONDO:Redundant", source="OMIM:614916"} ! catecholaminergic polymorphic ventricular tachycardia intersection_of: MONDO:0017990 ! catecholaminergic polymorphic ventricular tachycardia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1442 ! CALM1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1442 {source="MONDO:mim2gene_medgen"} ! CALM1 [Term] id: MONDO:0013967 @@ -320761,7 +319001,7 @@ is_a: MONDO:0100279 {source="https://www.clinicalgenome.org/affiliation/40049/"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614920", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8853 {source="MONDO:mim2gene_medgen"} ! PEX11B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8853 {source="OMIM:614920"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI [Term] @@ -320807,6 +319047,7 @@ is_a: MONDO:0015286 {source="MONDO:0013968/inferred", source="MONDO:Redundant", is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0017740 {source="Orphanet:319646"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8905 {source="OMIM:614921"} [Term] id: MONDO:0013969 @@ -320835,8 +319076,8 @@ xref: UMLS:C5190991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000732 {source="DC-OMIM:614922", source="DOID:0111481", source="MONDO:Redundant", source="OMIM:614922"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21176 ! RMND1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21176 {source="MONDO:mim2gene_medgen"} ! RMND1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21176 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21176 {source="OMIM:614922"} [Term] id: MONDO:0013970 @@ -320866,7 +319107,7 @@ is_a: MONDO:0006025 {source="DOID:0090126", source="MONDO:Redundant"} ! autosoma is_a: MONDO:0019242 {source="Orphanet:308410", source="PMID:33340416"} ! inborn disorder of branched-chain amino acid metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013970 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="Orphanet:308410"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16902 {source="MONDO:mim2gene_medgen"} ! BCKDK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16902 {source="OMIM:614923"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -320899,8 +319140,8 @@ is_a: MONDO:0000732 {source="DC-OMIM:614924", source="DOID:0111493", source="MON is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0019046 {source="Orphanet:314051"} ! leukodystrophy intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29419 {source="MONDO:mim2gene_medgen"} ! EARS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29419 {source="MONDO:mim2gene_medgen"} ! EARS2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29419 {source="MONDO:mim2gene_medgen"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29419 {source="OMIM:614924"} [Term] id: MONDO:0013972 @@ -320925,10 +319166,10 @@ xref: Orphanet:642976 {source="MONDO:equivalentTo"} xref: UMLS:C3554105 {source="MEDGEN:767019", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017312 {source="DC-OMIM:614926", source="MONDO:Redundant", source="OMIM:614926", source="Orphanet:642976"} ! Perrault syndrome intersection_of: MONDO:0017312 ! Perrault syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4817 ! HARS2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4817 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013972 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614926"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4817 {source="MONDO:mim2gene_medgen"} ! HARS2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4817 {source="OMIM:614926"} [Term] id: MONDO:0013973 @@ -320983,7 +319224,6 @@ is_a: MONDO:0019071 {source="DOID:0111660", source="MONDO:Redundant", source="Or is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614929"} ! ectodermal dysplasia syndrome intersection_of: MONDO:0019071 ! pure hair and nail ectodermal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28929 ! KRT74 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28929 {source="MONDO:mim2gene_medgen"} ! KRT74 [Term] id: MONDO:0013976 @@ -321005,8 +319245,8 @@ xref: UMLS:C3554127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019071 {source="DOID:0111656", source="MONDO:Redundant", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614931"} ! ectodermal dysplasia syndrome intersection_of: MONDO:0019071 ! pure hair and nail ectodermal dysplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5125 ! HOXC13 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5125 {source="MONDO:mim2gene_medgen"} ! HOXC13 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5125 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5125 {source="OMIM:614931"} [Term] id: MONDO:0013977 @@ -321035,7 +319275,6 @@ is_a: MONDO:0000732 {source="DC-OMIM:614932", source="DOID:0111467", source="MON is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23166 ! PNPT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23166 {source="MONDO:mim2gene_medgen"} ! PNPT1 [Term] id: MONDO:0013978 @@ -321061,7 +319300,6 @@ xref: UMLS:C1824925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019588 {source="DC-OMIM:614934", source="DOID:0110521", source="MONDO:Redundant", source="OMIM:614934"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23166 ! PNPT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23166 {source="MONDO:mim2gene_medgen"} ! PNPT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -321090,9 +319328,9 @@ xref: OMIM:614935 {source="MONDO:equivalentTo", source="DOID:0110608"} xref: UMLS:C3543826 {source="MEDGEN:762332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:614935", source="DOID:0110608", source="MONDO:Redundant", source="OMIM:614935"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16725 ! DNAAF11 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16725 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013979 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16725 {source="MONDO:mim2gene_medgen"} ! DNAAF11 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16725 {source="OMIM:614935"} [Term] id: MONDO:0013980 @@ -321152,7 +319390,6 @@ xref: Orphanet:238468 {source="OMIM:614940"} xref: UMLS:C3541517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762105"} is_a: MONDO:0015884 {source="Orphanet:1810/btnt"} ! autosomal dominant hypohidrotic ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614940"} ! ectodermal dysplasia syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14341 {source="MONDO:mim2gene_medgen"} ! EDARADD [Term] id: MONDO:0013983 @@ -321173,7 +319410,6 @@ xref: Orphanet:248 {source="OMIM:614941"} xref: UMLS:C3539920 {source="MEDGEN:761671", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016619 {source="Orphanet:248/btnt"} ! autosomal recessive hypohidrotic ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614941"} ! ectodermal dysplasia syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14341 {source="MONDO:mim2gene_medgen"} ! EDARADD [Term] id: MONDO:0013984 @@ -321200,8 +319436,8 @@ xref: OMIM:614944 {source="MONDO:equivalentTo", source="DOID:0110530"} xref: UMLS:C3554159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767073"} is_a: MONDO:0019588 {source="DC-OMIM:614944", source="DOID:0110530", source="MONDO:Redundant", source="OMIM:614944"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26901 ! OTOGL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26901 {source="MONDO:mim2gene_medgen"} ! OTOGL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26901 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26901 {source="OMIM:614944"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -321230,8 +319466,8 @@ xref: OMIM:614945 {source="MONDO:equivalentTo", source="DOID:0110474"} xref: UMLS:C3554163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767077"} is_a: MONDO:0019588 {source="DC-OMIM:614945", source="DOID:0110474", source="MONDO:Redundant", source="OMIM:614945"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8516 ! OTOG -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8516 {source="MONDO:mim2gene_medgen"} ! OTOG +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8516 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8516 {source="OMIM:614945"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -321261,7 +319497,6 @@ is_a: MONDO:0000732 {source="DC-OMIM:614946", source="DOID:0111477", source="MON is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21062 ! FARS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21062 {source="MONDO:mim2gene_medgen"} ! FARS2 [Term] id: MONDO:0013987 @@ -321291,7 +319526,6 @@ is_a: MONDO:0000732 {source="DC-OMIM:614947", source="DOID:0111491", source="MON is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29666 ! MTFMT -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29666 {source="MONDO:mim2gene_medgen"} ! MTFMT [Term] id: MONDO:0013988 @@ -321331,7 +319565,6 @@ xref: UMLS:C3554195 {source="MEDGEN:767109", source="MONDO:equivalentTo", source is_a: MONDO:0100062 {source="DC-OMIM:614959", source="DOID:0080439", source="MONDO:Redundant", source="OMIM:614959"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18865 ! KCNT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18865 {source="MONDO:mim2gene_medgen"} ! KCNT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -321361,8 +319594,8 @@ xref: SCTID:718611007 {source="MONDO:equivalentTo"} xref: UMLS:C3554209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767123"} is_a: MONDO:0020135 {source="DC-OMIM:614961", source="DOID:0060277", source="MONDO:Redundant", source="OMIM:614961", source="Orphanet:324569"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8740 ! CHMP1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8740 {source="MONDO:mim2gene_medgen"} ! CHMP1A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8740 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8740 {source="OMIM:614961"} [Term] id: MONDO:0013991 @@ -321391,7 +319624,7 @@ is_a: MONDO:0011122 {source="https://orcid.org/0000-0001-5208-3432"} ! obesity d is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6553 {source="MONDO:mim2gene_medgen"} ! LEP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6553 {source="OMIM:614962"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13015/obesity-due-to-congenital-leptin-deficiency" xsd:anyURI {source="GARD:0013015"} @@ -321421,7 +319654,7 @@ is_a: MONDO:0011122 {source="https://orcid.org/0000-0001-5208-3432"} ! obesity d is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6554 {source="MONDO:mim2gene_medgen"} ! LEPR +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6554 {source="OMIM:614963"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -321450,8 +319683,8 @@ xref: SCTID:718605009 {source="MONDO:equivalentTo"} xref: UMLS:C3554226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767140"} is_a: MONDO:0020135 {source="DC-OMIM:614969", source="DOID:0060276", source="MONDO:Redundant", source="OMIM:614969", source="Orphanet:284339"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15954 ! TOE1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15954 {source="MONDO:mim2gene_medgen"} ! TOE1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15954 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15954 {source="OMIM:614969"} [Term] id: MONDO:0013994 @@ -321476,7 +319709,6 @@ is_a: MONDO:0016364 {source="Orphanet:Inferred"} ! Joubert syndrome with ocular is_a: MONDO:0018772 {source="DC-OMIM:614970", source="DOID:0110989", source="MONDO:Redundant", source="OMIM:614970"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37234 ! TMEM231 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37234 {source="MONDO:mim2gene_medgen"} ! TMEM231 [Term] id: MONDO:0013995 @@ -321495,7 +319727,6 @@ xref: Orphanet:69665 {source="OMIM:614972"} xref: UMLS:C3554241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767155"} is_a: MONDO:0100429 {source="DOID:0070229", source="https://orcid.org/0000-0001-5493-2602"} ! intrahepatic cholestasis of pregnancy relationship: excluded_subClassOf MONDO:0019072 {source="Orphanet:69665/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! intrahepatic cholestasis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/45 {source="MONDO:mim2gene_medgen"} ! ABCB4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3897" xsd:anyURI [Term] @@ -321545,7 +319776,7 @@ xref: Orphanet:398166 {source="OMIM:614974"} xref: Orphanet:398189 {source="OMIM:614974", source="MONDO:equivalentTo"} xref: UMLS:C3554246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767160"} is_a: MONDO:0018363 {source="DC-OMIM:614974", source="OMIM:614974", source="Orphanet:398189"} ! focal facial dermal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20577 {source="MONDO:mim2gene_medgen"} ! CYP26C1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20577 {source="OMIM:614974"} [Term] id: MONDO:0013998 @@ -321569,9 +319800,9 @@ xref: UMLS:C3554247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015338 {source="PMID:31633310"} ! syndromic craniosynostosis is_a: MONDO:0019012 {source="DC-OMIM:614976", source="MONDO:Redundant", source="OMIM:614976"} ! Carpenter syndrome intersection_of: MONDO:0019012 ! Carpenter syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3233 ! MEGF8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3233 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013998 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3233 {source="MONDO:mim2gene_medgen"} ! MEGF8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3233 {source="OMIM:614976"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -321595,6 +319826,7 @@ xref: OMIM:614979 {source="Orphanet:313800", source="MONDO:equivalentTo", source xref: Orphanet:313800 {source="MONDO:equivalentTo", source="OMIM:614979"} xref: UMLS:C4749914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1662266"} is_a: MONDO:0020249 {source="Orphanet:313800"} ! hereditary optic neuropathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20917 {source="OMIM:614979"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6870" xsd:anyURI @@ -321616,9 +319848,9 @@ xref: UMLS:C3554279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000119 {source="DC-OMIM:614980"} ! congenital heart defects, multiple types is_a: MONDO:0019512 {source="MONDO:Redundant"} ! congenital heart malformation intersection_of: MONDO:0019512 ! congenital heart malformation -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17075 ! TAB2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17075 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17075 {source="MONDO:mim2gene_medgen"} ! TAB2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17075 {source="OMIM:614980"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -321670,7 +319902,6 @@ is_a: MONDO:0000030 {source="DC-OMIM:615005", source="OMIM:615005"} ! sleep-rela is_a: MONDO:0020300 {source="DOID:0060686", source="MONDO:Redundant"} ! autosomal dominant nocturnal frontal lobe epilepsy intersection_of: MONDO:0020300 ! autosomal dominant nocturnal frontal lobe epilepsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18865 ! KCNT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18865 {source="MONDO:mim2gene_medgen"} ! KCNT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -321709,7 +319940,6 @@ xref: Orphanet:1980 {source="OMIM:615007"} xref: UMLS:C3554321 {source="MEDGEN:767235", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:615007", source="Orphanet:1980/btnt"} ! bilateral striopallidodentate calcinosis relationship: has_characteristic MONDO:0700005 ! idiopathic -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8804 {source="MONDO:mim2gene_medgen"} ! PDGFRB [Term] id: MONDO:0014005 @@ -321748,7 +319978,6 @@ is_a: MONDO:0002350 {source="OMIM:615008"} ! familial nephrotic syndrome is_a: MONDO:0005377 {source="DC-OMIM:615008", source="MONDO:Redundant", source="MONDO:indirect"} ! nephrotic syndrome is_a: MONDO:0018904 {source="NCIT:C123055", source="Orphanet:329903"} ! primary membranoproliferative glomerulonephritis relationship: excluded_subClassOf MONDO:0016244 {source="Orphanet:2134/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! atypical hemolytic-uremic syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2852 {source="MONDO:mim2gene_medgen"} ! DGKE [Term] id: MONDO:0014006 @@ -321787,7 +320016,7 @@ is_a: MONDO:0100172 {source="OMIM:615009"} ! intellectual disability, autosomal relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014006 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070047", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30032 {source="MONDO:mim2gene_medgen"} ! PACS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30032 {source="OMIM:615009"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -321815,7 +320044,6 @@ is_a: MONDO:0700261 {source="https://clinicalgenome.org/affiliation/40060/", sou intersection_of: MONDO:0018866 ! Aicardi-Goutieres syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/225 ! ADAR relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615010"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/225 {source="MONDO:mim2gene_medgen"} ! ADAR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI [Term] @@ -321832,7 +320060,7 @@ xref: OMIM:615011 {source="MONDO:equivalentTo"} xref: UMLS:C3554344 {source="MEDGEN:767258", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014008 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28249 {source="MONDO:mim2gene_medgen"} ! PHYKPL +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28249 {source="OMIM:615011"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -321878,10 +320106,10 @@ xref: UMLS:C3554349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:615023"} ! autosomal recessive congenital ichthyosis is_a: MONDO:0019306 {source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23752 ! CERS3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23752 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615023"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23752 {source="MONDO:mim2gene_medgen"} ! CERS3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23752 {source="OMIM:615023"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -321905,10 +320133,10 @@ xref: UMLS:C3554355 {source="MEDGEN:767269", source="MONDO:equivalentTo", source is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:615024"} ! autosomal recessive congenital ichthyosis is_a: MONDO:0019306 {source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21246 ! PNPLA1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21246 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615024"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21246 {source="MONDO:mim2gene_medgen"} ! PNPLA1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21246 {source="OMIM:615024"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -321942,7 +320170,6 @@ is_a: MONDO:0015626 {source="DOID:0110170/inferred", source="MONDO:Redundant", s is_a: MONDO:0018993 {source="DOID:0110170", source="Orphanet:329258"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23537 ! DHTKD1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23537 {source="MONDO:mim2gene_medgen"} ! DHTKD1 [Term] id: MONDO:0014013 @@ -321990,8 +320217,8 @@ xref: Orphanet:412189 {source="OMIM:615028", source="MONDO:equivalentTo"} xref: UMLS:C3554367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767281"} is_a: MONDO:0017610 {source="OMIM:615028", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex intersection_of: MONDO:0017610 ! epidermolysis bullosa simplex -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30578 ! EXPH5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30578 {source="MONDO:mim2gene_medgen"} ! EXPH5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30578 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30578 {source="OMIM:615028"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -322021,8 +320248,8 @@ xref: Orphanet:320411 {source="MONDO:equivalentTo", source="DOID:0110808", sourc xref: UMLS:C3539507 {source="MEDGEN:761343", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019064 {source="DOID:0110808", source="MONDO:Redundant", source="OMIM:615030", source="Orphanet:320411/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20582 ! CYP2U1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20582 {source="MONDO:mim2gene_medgen"} ! CYP2U1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20582 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20582 {source="OMIM:615030"} [Term] id: MONDO:0014016 @@ -322053,8 +320280,8 @@ xref: UMLS:C3542549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110801", source="MONDO:Redundant", source="OMIM:615031", source="Orphanet:320385/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19957 ! TECPR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19957 {source="MONDO:mim2gene_medgen"} ! TECPR2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19957 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19957 {source="OMIM:615031"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -322078,9 +320305,9 @@ xref: Orphanet:642675 {source="MONDO:equivalentTo"} xref: UMLS:C3554373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767287"} is_a: MONDO:0020836 {source="OMIM:615032"} ! autism, susceptiblity to intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20153 ! CHD8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20153 intersection_of: predisposes_towards MONDO:0005260 ! autism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20153 {source="MONDO:mim2gene_medgen"} ! CHD8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20153 {source="OMIM:615032"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6823" xsd:anyURI [Term] @@ -322110,7 +320337,7 @@ xref: SCTID:723824005 {source="MONDO:equivalentTo"} xref: UMLS:C3539495 {source="MEDGEN:761341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110806", source="MONDO:Redundant", source="OMIM:615033", source="Orphanet:320380/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29106 {source="MONDO:mim2gene_medgen"} ! DDHD2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29106 {source="OMIM:615033"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -322140,8 +320367,8 @@ xref: UMLS:C3554374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015990 {source="EFO:0009040", source="Orphanet:420485"} ! focal, segmental or multifocal dystonia is_a: MONDO:0044807 {source="DOID:0090052/inferred", source="MONDO:Redundant", source="OMIM:615034"} ! inherited dystonia intersection_of: MONDO:0044807 ! inherited dystonia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14004 ! ANO3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14004 {source="MONDO:mim2gene_medgen"} ! ANO3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14004 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14004 {source="OMIM:615034"} [Term] id: MONDO:0014020 @@ -322170,7 +320397,6 @@ is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0019064 {source="DOID:0110807", source="MONDO:Redundant", source="OMIM:615035", source="Orphanet:320375/inferred", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26784 ! MTRFR -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26784 {source="MONDO:mim2gene_medgen"} ! MTRFR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -322194,7 +320420,7 @@ xref: Orphanet:391384 {source="OMIM:615040"} xref: Orphanet:391389 {source="MONDO:equivalentTo", source="OMIM:615040"} xref: UMLS:C3808667 {source="MEDGEN:814997", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018319 {source="DOID:0111729", source="OMIM:615040", source="Orphanet:391389"} ! familial episodic pain syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/497 {source="MONDO:mim2gene_medgen"} ! TRPA1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/497 {source="OMIM:615040"} [Term] id: MONDO:0014022 @@ -322219,8 +320445,8 @@ xref: UMLS:C3554381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615041", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! muscle-eye-brain disease intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13530 ! RXYLT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13530 {source="MONDO:mim2gene_medgen"} ! RXYLT1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13530 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13530 {source="OMIM:615041"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6272" xsd:anyURI [Term] @@ -322255,7 +320481,7 @@ is_a: MONDO:0015286 {source="MONDO:0014023/inferred", source="MONDO:Redundant", is_a: MONDO:0017749 {source="Orphanet:329178"} ! disorder of multiple glycosylation is_a: MONDO:0018276 {source="Orphanet:329178"} ! muscular dystrophy-dystroglycanopathy relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3006 {source="MONDO:mim2gene_medgen"} ! DPM2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3006 {source="OMIM:615042"} [Term] id: MONDO:0014024 @@ -322284,7 +320510,6 @@ xref: SCTID:764736001 {source="MONDO:equivalentTo"} xref: UMLS:C2680446 {source="MEDGEN:760531", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110795", source="MONDO:Redundant", source="OMIM:615043", source="Orphanet:320370/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25443 {source="MONDO:mim2gene_medgen"} ! C19orf12 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -322308,7 +320533,6 @@ xref: Orphanet:276435 {source="OMIM:615048", source="MONDO:equivalentTo"} xref: UMLS:C3554398 {source="MEDGEN:767312", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001516 {source="DC-OMIM:615048"} ! spinal muscular atrophy is_a: MONDO:0019079 {source="https://orcid.org/0000-0002-5002-8648"} ! proximal spinal muscular atrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15559 {source="MONDO:mim2gene_medgen"} ! CHCHD10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI [Term] @@ -322332,8 +320556,8 @@ xref: Orphanet:215 {source="OMIM:615058"} xref: UMLS:C3554399 {source="MEDGEN:767313", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016293 {source="DC-OMIM:615058", source="DOID:0110864", source="MONDO:Redundant", source="OMIM:615058"} ! congenital stationary night blindness intersection_of: MONDO:0016293 ! congenital stationary night blindness -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24783 ! LRIT3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24783 {source="MONDO:mim2gene_medgen"} ! LRIT3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24783 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24783 {source="OMIM:615058"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -322358,8 +320582,8 @@ xref: UMLS:C3554409 {source="MEDGEN:767323", source="MONDO:equivalentTo", source is_a: MONDO:0003037 {source="DOID:0110708", source="MONDO:Redundant", source="OMIM:615059"} ! hypotrichosis is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11161 ! SNRPE -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11161 {source="MONDO:mim2gene_medgen"} ! SNRPE +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11161 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11161 {source="OMIM:615059"} [Term] id: MONDO:0014028 @@ -322386,8 +320610,8 @@ xref: Orphanet:329457 {source="MONDO:equivalentTo", source="OMIM:615065"} xref: UMLS:C3554415 {source="MEDGEN:767329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019942 {source="DC-OMIM:615065", source="DOID:0111594", source="MONDO:Redundant", source="OMIM:615065", source="Orphanet:329457"} ! distal arthrogryposis intersection_of: MONDO:0019942 ! distal arthrogryposis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3147 ! ECEL1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3147 {source="MONDO:mim2gene_medgen"} ! ECEL1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3147 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3147 {source="OMIM:615065"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13059/distal-arthrogryposis-type-5d" xsd:anyURI {source="GARD:0013059"} [Term] @@ -322415,8 +320639,8 @@ xref: UMLS:C3554428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019019 {source="DC-OMIM:615066", source="DOID:0110343", source="MONDO:Redundant", source="OMIM:615066"} ! osteogenesis imperfecta is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0019019 ! osteogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25535 ! TMEM38B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25535 {source="MONDO:mim2gene_medgen"} ! TMEM38B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25535 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25535 {source="OMIM:615066"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -322444,9 +320668,9 @@ xref: Orphanet:244 {source="OMIM:615067"} xref: UMLS:C3540844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761920"} is_a: MONDO:0016575 {source="DC-OMIM:615067", source="DOID:0110625", source="MONDO:Redundant", source="OMIM:615067"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26560 ! ODAD1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26560 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014030 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26560 {source="MONDO:mim2gene_medgen"} ! ODAD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26560 {source="OMIM:615067"} [Term] id: MONDO:0014031 @@ -322472,7 +320696,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0018230 {source="PMID:37529055", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia is_a: MONDO:0800063 {source="PMID:37529055", source="https://orcid.org/0009-0001-6494-4831"} ! primordial dwarfism and slender bone disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24912 {source="MONDO:mim2gene_medgen"} ! LARP7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24912 {source="OMIM:615071"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -322495,7 +320719,6 @@ xref: Orphanet:93388 {source="OMIM:615072"} xref: UMLS:C3554446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767360"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly relationship: excluded_subClassOf MONDO:0007215 {source="DOID:0110977", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly type A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5 [Term] id: MONDO:0014033 @@ -322524,8 +320747,8 @@ is_a: MONDO:0000478 {source="DOID:0090055"} ! multifocal dystonia is_a: MONDO:0015990 {source="Orphanet:329466"} ! focal, segmental or multifocal dystonia is_a: MONDO:0044807 {source="DOID:0090055/inferred", source="MONDO:Redundant", source="OMIM:615073"} ! inherited dystonia intersection_of: MONDO:0044807 ! inherited dystonia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4388 ! GNAL -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4388 {source="MONDO:mim2gene_medgen"} ! GNAL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4388 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4388 {source="OMIM:615073"} [Term] id: MONDO:0014034 @@ -322562,7 +320785,7 @@ is_a: MONDO:0100172 {source="OMIM:615074"} ! intellectual disability, autosomal relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014034 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070048", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30778 {source="MONDO:mim2gene_medgen"} ! GATAD2B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30778 {source="OMIM:615074"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -322602,7 +320825,6 @@ is_a: MONDO:0100571 {source="https://clinicalgenome.org/affiliation/40006/"} ! C relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014035 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070049", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2514 {source="MONDO:mim2gene_medgen"} ! CTNNB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7572" xsd:anyURI @@ -322645,9 +320867,9 @@ xref: UMLS:C3554453 {source="MEDGEN:767367", source="MONDO:equivalentTo", source is_a: MONDO:0004983 {source="DC-OMIM:615081", source="DOID:0070180", source="MONDO:Redundant", source="OMIM:615081"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18829 ! KLHL10 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18829 ! KLHL10 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18829 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18829 {source="MONDO:mim2gene_medgen"} ! KLHL10 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18829 {source="MONDO:mim2gene_medgen"} ! KLHL10 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18829 {source="OMIM:615081"} [Term] id: MONDO:0014038 @@ -322669,7 +320891,6 @@ xref: UMLS:C3554460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9177 ! POLE intersection_of: predisposes_towards MONDO:0005575 ! colorectal cancer -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9177 {source="MONDO:mim2gene_medgen"} ! POLE [Term] id: MONDO:0014039 @@ -322699,8 +320920,8 @@ xref: Orphanet:352447 {source="MONDO:equivalentTo", source="OMIM:615084"} xref: UMLS:C3554462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767376"} is_a: MONDO:0018158 {source="DC-OMIM:615084", source="DOID:0080129", source="MONDO:Redundant", source="OMIM:615084"} ! mitochondrial DNA depletion syndrome intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16205 ! MGME1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16205 {source="MONDO:mim2gene_medgen"} ! MGME1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16205 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16205 {source="OMIM:615084"} [Term] id: MONDO:0014040 @@ -322727,9 +320948,9 @@ xref: UMLS:C3554478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017198 {source="DOID:0110940", source="MONDO:Redundant", source="NCIT:C150556/inferred", source="OMIM:615085", source="PMID:31633310"} ! osteopetrosis is_a: MONDO:0019026 {source="MONDO:Redundant", source="OMIM:615085", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14974 ! SNX10 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14974 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14974 {source="MONDO:mim2gene_medgen"} ! SNX10 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14974 {source="OMIM:615085"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -322747,9 +320968,9 @@ xref: Orphanet:106 {source="OMIM:615091"} xref: UMLS:C3554495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767409"} is_a: MONDO:0020836 {source="OMIM:615091"} ! autism, susceptiblity to intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3287 ! EIF4E +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3287 intersection_of: predisposes_towards MONDO:0005260 ! autism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3287 {source="MONDO:mim2gene_medgen"} ! EIF4E +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3287 {source="OMIM:615091"} [Term] id: MONDO:0014042 @@ -322771,8 +320992,8 @@ xref: Orphanet:54260 {source="OMIM:615092"} xref: UMLS:C3554496 {source="MEDGEN:767410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018901 {source="DC-OMIM:615092", source="MONDO:Redundant", source="OMIM:615092"} ! left ventricular noncompaction intersection_of: MONDO:0018901 ! left ventricular noncompaction -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21086 ! MIB1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21086 {source="MONDO:mim2gene_medgen"} ! MIB1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21086 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21086 {source="OMIM:615092"} [Term] id: MONDO:0014043 @@ -322800,7 +321021,7 @@ xref: UMLS:C3554499 {source="MEDGEN:767413", source="MONDO:equivalentTo", source is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder is_a: MONDO:0016660 {source="DC-OMIM:615095", source="DOID:0070294", source="OMIM:615095"} ! autosomal recessive primary microcephaly is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15807 {source="MONDO:mim2gene_medgen"} ! ZNF335 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15807 {source="OMIM:615095"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI [Term] @@ -322841,7 +321062,6 @@ xref: Orphanet:201 {source="OMIM:615106"} is_a: MONDO:0016063 {source="DC-OMIM:615106", source="MONDO:Redundant", source="OMIM:615106"} ! Cowden disease intersection_of: MONDO:0016063 ! Cowden disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10683 ! SDHD -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10683 {source="MONDO:mim2gene_medgen"} ! SDHD [Term] id: MONDO:0014046 @@ -322862,8 +321082,8 @@ xref: Orphanet:201 {source="OMIM:615107"} xref: UMLS:C3554517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767431"} is_a: MONDO:0016063 {source="DC-OMIM:615107", source="DOID:0081000", source="MONDO:Redundant", source="OMIM:615107"} ! Cowden disease intersection_of: MONDO:0016063 ! Cowden disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37212 ! KLLN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37212 {source="MONDO:mim2gene_medgen"} ! KLLN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/37212 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/37212 {source="OMIM:615107"} [Term] id: MONDO:0014047 @@ -322887,7 +321107,6 @@ is_a: MONDO:1040002 {source="PMID:23592320", source="PMID:25557259", source="htt intersection_of: MONDO:0016063 ! Cowden disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8975 ! PIK3CA relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615108"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8975 {source="MONDO:mim2gene_medgen"} ! PIK3CA [Term] id: MONDO:0014048 @@ -322910,7 +321129,6 @@ is_a: MONDO:0016063 {source="DC-OMIM:615109", source="DOID:0081002", source="MON intersection_of: MONDO:0016063 ! Cowden disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/391 ! AKT1 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615109"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/391 {source="MONDO:mim2gene_medgen"} ! AKT1 [Term] id: MONDO:0014049 @@ -322929,9 +321147,9 @@ xref: OMIM:615112 {source="MONDO:equivalentTo"} xref: UMLS:C3554520 {source="MEDGEN:767434", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000463 {source="DC-OMIM:615112", source="MONDO:Redundant", source="OMIM:615112"} ! Ochoa syndrome intersection_of: MONDO:0000463 ! Ochoa syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20889 ! LRIG2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20889 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615112"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20889 {source="MONDO:mim2gene_medgen"} ! LRIG2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20889 {source="OMIM:615112"} [Term] id: MONDO:0014050 @@ -322956,8 +321174,8 @@ xref: UMLS:C3554524 {source="MONDO:equivalentTo", source="MEDGEN:767438", source is_a: MONDO:0000062 {source="DC-OMIM:615113", source="DOID:0060841", source="MONDO:Redundant", source="OMIM:615113"} ! isolated microphthalmia is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/409 ! ALDH1A3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/409 {source="MONDO:mim2gene_medgen"} ! ALDH1A3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/409 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/409 {source="OMIM:615113"} [Term] id: MONDO:0014051 @@ -322980,8 +321198,8 @@ xref: Orphanet:1561 {source="OMIM:615119"} xref: UMLS:C3554534 {source="MEDGEN:767448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015487 {source="DC-OMIM:615119", source="DOID:0080358", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy intersection_of: MONDO:0015487 ! fatal infantile encephalocardiomyopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2263 ! COX15 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2263 {source="MONDO:mim2gene_medgen"} ! COX15 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2263 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2263 {source="OMIM:615119"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -323014,8 +321232,8 @@ xref: UMLS:C3808739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018940 {source="DOID:0110657", source="MONDO:Redundant", source="OMIM:615120"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/329 ! AGRN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/329 {source="MONDO:mim2gene_medgen"} ! AGRN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/329 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/329 {source="OMIM:615120"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -323049,9 +321267,9 @@ xref: Orphanet:238505 {source="OMIM:615122"} xref: UMLS:C3554540 {source="MEDGEN:767454", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016537 {source="DOID:0060708", source="MONDO:Redundant", source="OMIM:615122"} ! lymphoproliferative syndrome intersection_of: MONDO:0016537 ! lymphoproliferative syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11922 ! CD27 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11922 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11922 {source="MONDO:mim2gene_medgen"} ! CD27 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11922 {source="OMIM:615122"} [Term] id: MONDO:0014055 @@ -323071,6 +321289,7 @@ xref: Orphanet:86814 {source="OMIM:615127"} xref: UMLS:C3554560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767474"} is_a: MONDO:0000160 {source="DC-OMIM:615127", source="DOID:0111693", source="OMIM:615127"} ! epilepsy, familial adult myoclonic relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25489 {source="OMIM:615127"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -323094,7 +321313,6 @@ is_a: MONDO:0100242 {source="OMIM:615134"} ! glioma susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11730 ! TERT intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11730 {source="MONDO:mim2gene_medgen"} ! TERT property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -323114,7 +321332,7 @@ xref: UMLS:C3554575 {source="MEDGEN:767489", source="MONDO:equivalentTo", source is_a: MONDO:0009563 {source="MONDO:Redundant", source="OMIM:615135", source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014057 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0017052 {source="Orphanet:268162/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! intermediate maple syrup urine disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25415 {source="MONDO:mim2gene_medgen"} ! PPM1K +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25415 {source="OMIM:615135"} [Term] id: MONDO:0014058 @@ -323136,7 +321354,6 @@ xref: OMIM:615139 {source="Orphanet:352712/e", source="MONDO:equivalentTo", sour xref: Orphanet:352712 {source="OMIM:615139", source="MONDO:equivalentTo"} xref: UMLS:C3554576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767490"} is_a: MONDO:0003847 {source="OMIM:615139"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9177 {source="MONDO:mim2gene_medgen"} ! POLE [Term] id: MONDO:0014059 @@ -323159,7 +321376,6 @@ xref: UMLS:C3554592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:615145", source="Orphanet:98938/btnt"} ! microphthalmia, isolated, with coloboma intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29944 ! TENM3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29944 {source="MONDO:mim2gene_medgen"} ! TENM3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -323182,7 +321398,6 @@ xref: OMIM:615147 {source="Orphanet:352718", source="MONDO:equivalentTo", source xref: Orphanet:352718 {source="OMIM:615147", source="MONDO:equivalentTo"} xref: UMLS:C3554593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767507"} is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:352718"} ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9922 {source="MONDO:mim2gene_medgen"} ! RBP4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI [Term] @@ -323209,7 +321424,7 @@ is_a: MONDO:0005381 {source="Orphanet:438117", source="https://orcid.org/0000-00 is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia relationship: disease_has_feature HP:0004348 {source="Orphanet:438117"} ! Abnormality of bone mineral density relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:438117", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22986 {source="MONDO:mim2gene_medgen"} ! COL27A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22986 {source="OMIM:615155"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -323237,7 +321452,6 @@ xref: Orphanet:352470 {source="MONDO:equivalentTo", source="OMIM:615156"} xref: UMLS:C3554599 {source="MEDGEN:767513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000090 {source="DC-OMIM:615156", source="OMIM:615156"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions is_a: MONDO:0018158 {source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2939 {source="MONDO:mim2gene_medgen"} ! DNA2 [Term] id: MONDO:0014063 @@ -323261,8 +321475,8 @@ is_a: MONDO:0000066 {source="DC-OMIM:615157", source="MONDO:indirect"} ! mitocho is_a: MONDO:0015448 {source="DOID:0060351", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="OMIM:615157", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26006 ! TTC19 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26006 {source="MONDO:mim2gene_medgen"} ! TTC19 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26006 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26006 {source="OMIM:615157"} [Term] id: MONDO:0014064 @@ -323285,8 +321499,8 @@ is_a: MONDO:0000066 {source="DC-OMIM:615158", source="MONDO:indirect"} ! mitocho is_a: MONDO:0015448 {source="DOID:0080112", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="OMIM:615158", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12582 ! UQCRB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12582 {source="MONDO:mim2gene_medgen"} ! UQCRB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12582 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12582 {source="OMIM:615158"} [Term] id: MONDO:0014065 @@ -323309,8 +321523,8 @@ is_a: MONDO:0000066 {source="DC-OMIM:615159", source="MONDO:indirect"} ! mitocho is_a: MONDO:0015448 {source="DOID:0080113", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="OMIM:615159", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29594 ! UQCRQ -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29594 {source="MONDO:mim2gene_medgen"} ! UQCRQ +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29594 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29594 {source="OMIM:615159"} [Term] id: MONDO:0014066 @@ -323333,8 +321547,8 @@ is_a: MONDO:0000066 {source="DC-OMIM:615160", source="MONDO:indirect"} ! mitocho is_a: MONDO:0015448 {source="DOID:0080114", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="OMIM:615160", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12586 ! UQCRC2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12586 {source="MONDO:mim2gene_medgen"} ! UQCRC2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12586 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12586 {source="OMIM:615160"} [Term] id: MONDO:0014067 @@ -323425,8 +321639,8 @@ xref: SCTID:722059002 {source="MONDO:equivalentTo"} xref: UMLS:C3808786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815116"} is_a: MONDO:0018910 {source="DC-OMIM:615179", source="DOID:0070100", source="MONDO:Redundant", source="OMIM:615179", source="Orphanet:352745"} ! oculocutaneous albinism intersection_of: MONDO:0018910 ! oculocutaneous albinism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23405 ! LRMDA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23405 {source="MONDO:mim2gene_medgen"} ! LRMDA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23405 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23405 {source="OMIM:615179"} [Term] id: MONDO:0014071 @@ -323453,8 +321667,8 @@ xref: UMLS:C3554638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615181", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 ! muscle-eye-brain disease intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28596 ! B3GALNT2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28596 {source="MONDO:mim2gene_medgen"} ! B3GALNT2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28596 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28596 {source="OMIM:615181"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -323484,7 +321698,6 @@ xref: Orphanet:356978 {source="MONDO:equivalentTo", source="OMIM:615182"} xref: SCTID:713401006 {source="MONDO:equivalentTo"} xref: UMLS:C5574940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802316"} is_a: MONDO:0016001 {source="DOID:0111619", source="Orphanet:356978"} ! 2-hydroxyglutaric aciduria -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10979 {source="MONDO:mim2gene_medgen"} ! SLC25A1 [Term] id: MONDO:0014073 @@ -323506,7 +321719,6 @@ xref: MEDGEN:767563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615184 {source="MONDO:equivalentTo", source="DOID:0110450"} xref: UMLS:C3554649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767563"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:615184"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2389 {source="MONDO:mim2gene_medgen"} ! CRYAB [Term] id: MONDO:0014074 @@ -323534,7 +321746,7 @@ xref: OMIM:615185 {source="Orphanet:352670", source="DOID:0110206", source="MOND xref: Orphanet:352670 {source="DOID:0110206", source="MONDO:equivalentTo", source="OMIM:615185"} xref: UMLS:C4749463 {source="MEDGEN:1666273", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019548 {source="Orphanet:352670", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20731 {source="MONDO:mim2gene_medgen"} ! GNB4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20731 {source="OMIM:615185"} [Term] id: MONDO:0014075 @@ -323561,8 +321773,8 @@ xref: UMLS:C3808800 {source="MEDGEN:815130", source="MONDO:equivalentTo", source is_a: MONDO:0005129 {source="DOID:0110236", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:615188"} ! cataract is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2409 ! CRYGB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2409 {source="MONDO:mim2gene_medgen"} ! CRYGB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2409 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2409 {source="OMIM:615188"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -323593,7 +321805,6 @@ is_a: MONDO:0800467 {source="PMID:20301779", source="https://clinicalgenome.org/ intersection_of: MONDO:0015780 ! dyskeratosis congenita intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15888 ! RTEL1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15888 {source="MONDO:mim2gene_medgen"} ! RTEL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI [Term] @@ -323624,7 +321835,7 @@ xref: UMLS:C3554657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:615191", source="Orphanet:352682/inferred"} ! lissencephaly spectrum disorders is_a: MONDO:0018869 {source="Orphanet:352682"} ! cobblestone lissencephaly relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014077 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6486 {source="MONDO:mim2gene_medgen"} ! LAMB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6486 {source="OMIM:615191"} [Term] id: MONDO:0014078 @@ -323652,9 +321863,9 @@ xref: UMLS:C3554663 {source="MEDGEN:767577", source="MONDO:equivalentTo", source is_a: MONDO:0000009 {source="DOID:0111053", source="MONDO:Redundant", source="OMIM:615193"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0015372 {source="Orphanet:140957/btnt"} ! autosomal dominant macrothrombocytopenia intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/163 ! ACTN1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/163 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014078 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/163 {source="MONDO:mim2gene_medgen"} ! ACTN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/163 {source="OMIM:615193"} [Term] id: MONDO:0014079 @@ -323692,6 +321903,7 @@ xref: Orphanet:500548 {source="MONDO:equivalentTo"} xref: UMLS:C3554665 {source="MEDGEN:767579", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0017198 {source="Orphanet:500548", source="PMID:31633310"} ! osteopetrosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18608 {source="OMIM:615198"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -323721,7 +321933,6 @@ xref: Orphanet:357237 {source="OMIM:615206", source="MONDO:equivalentTo"} xref: UMLS:C3554686 {source="MEDGEN:767600", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0044201 {source="Orphanet:357237"} ! T+ B+ severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014081 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16393 {source="MONDO:mim2gene_medgen"} ! CARD11 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -323746,7 +321957,7 @@ xref: Orphanet:357329 {source="MONDO:equivalentTo", source="OMIM:615207"} xref: UMLS:C3554687 {source="MEDGEN:767601", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:615207"} ! immunodeficiency disease relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:357329", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6006 {source="MONDO:mim2gene_medgen"} ! IL21R +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6006 {source="OMIM:615207"} [Term] id: MONDO:0014083 @@ -323773,7 +321984,6 @@ is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:615214"} ! agammaglo intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8979 ! PIK3R1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014083 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8979 {source="MONDO:mim2gene_medgen"} ! PIK3R1 [Term] id: MONDO:0014084 @@ -323792,7 +322002,7 @@ xref: OMIM:615217 {source="MONDO:equivalentTo", source="DOID:0060557"} xref: UMLS:C3554690 {source="MEDGEN:767604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015244 {source="DOID:0050950", source="DOID:0060557", source="https://github.com/monarch-initiative/mondo/issues/48"} ! autosomal recessive cerebellar ataxia relationship: excluded_subClassOf MONDO:0018996 {source="Orphanet:64753/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30035 {source="MONDO:mim2gene_medgen"} ! PIK3R5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30035 {source="OMIM:615217"} [Term] id: MONDO:0014085 @@ -323813,8 +322023,8 @@ xref: Orphanet:2185 {source="OMIM:615219"} xref: UMLS:C3554691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767605"} is_a: MONDO:0016349 {source="MONDO:Redundant", source="OMIM:615219", source="Orphanet:2185/btnt"} ! congenital hydrocephalus intersection_of: MONDO:0016349 ! congenital hydrocephalus -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7208 ! MPDZ -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7208 {source="MONDO:mim2gene_medgen"} ! MPDZ +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7208 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7208 {source="OMIM:615219"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -323844,7 +322054,6 @@ is_a: MONDO:0019019 {source="DC-OMIM:615220", source="DOID:0110347", source="MON is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0019019 ! osteogenesis imperfecta intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12774 ! WNT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12774 {source="MONDO:mim2gene_medgen"} ! WNT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -323869,8 +322078,8 @@ xref: UMLS:C3714896 {source="MEDGEN:811489", source="MONDO:equivalentTo", source is_a: MONDO:0015799 {source="DC-OMIM:615222", source="DOID:0081271", source="MONDO:Redundant", source="OMIM:615222"} ! Smith-McCort dysplasia is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia intersection_of: MONDO:0015799 ! Smith-McCort dysplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16075 ! RAB33B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16075 {source="MONDO:mim2gene_medgen"} ! RAB33B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16075 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16075 {source="OMIM:615222"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -323896,8 +322105,8 @@ xref: Orphanet:164736 {source="OMIM:615224"} xref: UMLS:C3808874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815204"} is_a: MONDO:0015609 {source="DC-OMIM:615224", source="DOID:0110012", source="MONDO:Redundant", source="OMIM:615224"} ! advanced sleep phase syndrome intersection_of: MONDO:0015609 ! advanced sleep phase syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2452 ! CSNK1D -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2452 {source="MONDO:mim2gene_medgen"} ! CSNK1D +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2452 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2452 {source="OMIM:615224"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -323925,7 +322134,6 @@ xref: UMLS:C3808876 {source="MEDGEN:815206", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0020212 {source="Orphanet:352662"} ! superficial corneal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14374 {source="MONDO:mim2gene_medgen"} ! NLRP1 [Term] id: MONDO:0014090 @@ -323941,7 +322149,7 @@ xref: OMIM:615226 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="OMIM:615226"} xref: UMLS:C3808889 {source="MEDGEN:815219", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12926 {source="MONDO:mim2gene_medgen"} ! ZNF141 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12926 {source="OMIM:615226"} [Term] id: MONDO:0014091 @@ -323966,7 +322174,6 @@ is_a: MONDO:0000066 {source="DC-OMIM:615228", source="MONDO:Redundant"} ! mitoch is_a: MONDO:0014471 {source="DOID:0060333", source="Orphanet:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: MONDO:0000066 ! mitochondrial complex deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/823 ! ATP5F1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/823 {source="MONDO:mim2gene_medgen"} ! ATP5F1A [Term] id: MONDO:0014092 @@ -323987,7 +322194,6 @@ is_a: MONDO:0100182 {source="OMIM:615232", source="https://orcid.org/0000-0001-5 intersection_of: MONDO:0100182 ! schizophrenia, susceptibility to intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10939 ! SLC1A1 relationship: excluded_subClassOf MONDO:0005090 {source="DOID:0070093", source="OMIM:615232", source="https://orcid.org/0000-0001-5208-3432"} ! schizophrenia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10939 {source="MONDO:mim2gene_medgen"} ! SLC1A1 relationship: predisposes_towards MONDO:0005090 {source="OMIM:615232"} ! schizophrenia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -324013,8 +322219,8 @@ xref: Orphanet:791 {source="OMIM:615233"} xref: UMLS:C3715216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811638"} is_a: MONDO:0019200 {source="DC-OMIM:615233", source="DOID:0110393", source="MONDO:Redundant", source="OMIM:615233"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9921 ! RBP3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9921 {source="MONDO:mim2gene_medgen"} ! RBP3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9921 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9921 {source="OMIM:615233"} [Term] id: MONDO:0014094 @@ -324043,7 +322249,7 @@ is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0020099 {source="Orphanet:300298"} ! inherited sideroblastic anemia relationship: disease_arises_from_feature HP:0011031 ! Abnormality of iron homeostasis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24592 {source="MONDO:mim2gene_medgen"} ! STEAP3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24592 {source="OMIM:615234"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -324066,7 +322272,7 @@ xref: MEDGEN:815265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615235 {source="DOID:0110438", source="MONDO:equivalentTo"} xref: UMLS:C3808935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815265"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:615235"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6484 {source="MONDO:mim2gene_medgen"} ! LAMA4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6484 {source="OMIM:615235"} [Term] id: MONDO:0014096 @@ -324136,7 +322342,7 @@ xref: OMIM:615238 {source="Orphanet:435651/e", source="MONDO:equivalentTo", sour xref: Orphanet:435651 {source="MONDO:equivalentTo"} xref: UMLS:C3808940 {source="MEDGEN:815270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020088 {source="DC-OMIM:615238", source="DOID:0070203", source="OMIM:615238", source="Orphanet:435651"} ! familial partial lipodystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24229 {source="MONDO:mim2gene_medgen"} ! CIDEC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24229 {source="OMIM:615238"} [Term] id: MONDO:0014099 @@ -324158,8 +322364,8 @@ is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:615244"} ! familial is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:615244"} ! nephrotic syndrome is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/678 ! ARHGDIA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/678 {source="MONDO:mim2gene_medgen"} ! ARHGDIA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/678 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/678 {source="OMIM:615244"} [Term] id: MONDO:0014100 @@ -324194,7 +322400,6 @@ is_a: MONDO:0016340 {source="OMIM:615248"} ! familial restrictive cardiomyopathy is_a: MONDO:0024573 {source="OMIM:615248"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005021 ! dilated cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23246 ! MYPN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23246 {source="MONDO:mim2gene_medgen"} ! MYPN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -324221,7 +322426,6 @@ is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615249", source="Orp intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26267 ! POMK relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26267 {source="MONDO:mim2gene_medgen"} ! POMK property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -324245,8 +322449,8 @@ xref: UMLS:C3808971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018555 {source="DOID:0090079", source="MONDO:Redundant", source="OMIM:615266"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15533 ! SPRY4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15533 {source="MONDO:mim2gene_medgen"} ! SPRY4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15533 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15533 {source="OMIM:615266"} [Term] id: MONDO:0014103 @@ -324270,8 +322474,8 @@ xref: UMLS:C3808975 {source="MEDGEN:815305", source="MONDO:equivalentTo", source is_a: MONDO:0018555 {source="DOID:0090076", source="MONDO:Redundant", source="OMIM:615267"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17616 ! IL17RD -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17616 {source="MONDO:mim2gene_medgen"} ! IL17RD +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17616 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17616 {source="OMIM:615267"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -324297,8 +322501,8 @@ xref: Orphanet:1766 {source="OMIM:615268"} xref: UMLS:C3808977 {source="MEDGEN:815307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:615268", source="Orphanet:1766/btnt"} ! cerebellar ataxia, intellectual disability, and dysequilibrium intersection_of: MONDO:0009133 ! cerebellar ataxia, intellectual disability, and dysequilibrium -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13533 ! ATP8A2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13533 {source="MONDO:mim2gene_medgen"} ! ATP8A2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13533 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13533 {source="OMIM:615268"} [Term] id: MONDO:0014105 @@ -324320,8 +322524,8 @@ xref: UMLS:C3808981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018555 {source="DOID:0090090", source="MONDO:Redundant", source="OMIM:615269"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3072 ! DUSP6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3072 {source="MONDO:mim2gene_medgen"} ! DUSP6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3072 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3072 {source="OMIM:615269"} [Term] id: MONDO:0014106 @@ -324343,8 +322547,8 @@ xref: UMLS:C3808983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018555 {source="DOID:0090082", source="MONDO:Redundant", source="OMIM:615270"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3673 ! FGF17 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3673 {source="MONDO:mim2gene_medgen"} ! FGF17 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3673 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3673 {source="OMIM:615270"} [Term] id: MONDO:0014107 @@ -324368,8 +322572,8 @@ xref: UMLS:C3808986 {source="MEDGEN:815316", source="MONDO:equivalentTo", source is_a: MONDO:0018555 {source="DOID:0090093", source="MONDO:Redundant", source="OMIM:615271"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3762 ! FLRT3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3762 {source="MONDO:mim2gene_medgen"} ! FLRT3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3762 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3762 {source="OMIM:615271"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -324396,7 +322600,6 @@ xref: UMLS:C3808988 {source="MEDGEN:815318", source="MONDO:equivalentTo", source is_a: MONDO:0019391 {source="DC-OMIM:615272", source="DOID:0111093", source="MONDO:Redundant", source="OMIM:615272"} ! Fanconi anemia intersection_of: MONDO:0019391 ! Fanconi anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3436 ! ERCC4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3436 {source="MONDO:mim2gene_medgen"} ! ERCC4 [Term] id: MONDO:0014109 @@ -324432,8 +322635,8 @@ xref: UMLS:C3809001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005129 {source="DOID:0110251", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:615274"} ! cataract is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7103 ! MIP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7103 {source="MONDO:mim2gene_medgen"} ! MIP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7103 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7103 {source="OMIM:615274"} [Term] id: MONDO:0014111 @@ -324458,8 +322661,8 @@ xref: UMLS:C3809004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005129 {source="DOID:0110263", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:615277"} ! cataract is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6610 ! LIM2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6610 {source="MONDO:mim2gene_medgen"} ! LIM2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6610 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6610 {source="OMIM:615277"} [Term] id: MONDO:0014112 @@ -324484,7 +322687,6 @@ xref: UMLS:C3809005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015280 {source="DC-OMIM:615278", source="DOID:0111461", source="MONDO:Redundant", source="OMIM:615278"} ! cardiofaciocutaneous syndrome intersection_of: MONDO:0015280 ! cardiofaciocutaneous syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6407 ! KRAS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6407 {source="MONDO:mim2gene_medgen"} ! KRAS [Term] id: MONDO:0014113 @@ -324507,7 +322709,6 @@ xref: UMLS:C3809006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015280 {source="DC-OMIM:615279", source="DOID:0111462", source="MONDO:Redundant", source="OMIM:615279"} ! cardiofaciocutaneous syndrome intersection_of: MONDO:0015280 ! cardiofaciocutaneous syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6840 ! MAP2K1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6840 {source="MONDO:mim2gene_medgen"} ! MAP2K1 [Term] id: MONDO:0014114 @@ -324529,8 +322730,8 @@ xref: Orphanet:1340 {source="OMIM:615280"} xref: UMLS:C3809007 {source="MEDGEN:815337", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015280 {source="DC-OMIM:615280", source="DOID:0111463", source="MONDO:Redundant", source="OMIM:615280"} ! cardiofaciocutaneous syndrome intersection_of: MONDO:0015280 ! cardiofaciocutaneous syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6842 ! MAP2K2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6842 {source="MONDO:mim2gene_medgen"} ! MAP2K2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6842 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6842 {source="OMIM:615280"} [Term] id: MONDO:0014115 @@ -324551,7 +322752,7 @@ xref: OMIM:615281 {source="MONDO:equivalentTo", source="Orphanet:363412", source xref: Orphanet:363412 {source="MONDO:equivalentTo", source="OMIM:615281"} xref: UMLS:C4755254 {source="MEDGEN:1667792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019046 {source="Orphanet:363412"} ! leukodystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2678 {source="MONDO:mim2gene_medgen"} ! DARS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2678 {source="OMIM:615281"} [Term] id: MONDO:0014116 @@ -324571,9 +322772,9 @@ xref: UMLS:C3809013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000904 {source="DOID:0090133", source="MONDO:Redundant", source="OMIM:615282"} ! complex cortical dysplasia with other brain malformations is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6325 ! KIF5C +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6325 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014116 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6325 {source="MONDO:mim2gene_medgen"} ! KIF5C +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6325 {source="OMIM:615282"} [Term] id: MONDO:0014117 @@ -324602,9 +322803,9 @@ xref: UMLS:C3695063 {source="MEDGEN:811329", source="MONDO:equivalentTo", source is_a: MONDO:0015626 {source="DOID:0110194/inferred", source="MONDO:Redundant", source="OMIM:615284", source="Orphanet:363981/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018995 {source="DOID:0110194", source="MONDO:Redundant", source="Orphanet:363981"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10542 ! SBF1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10542 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014117 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10542 {source="MONDO:mim2gene_medgen"} ! SBF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10542 {source="OMIM:615284"} [Term] id: MONDO:0014118 @@ -324630,10 +322831,10 @@ is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.co is_a: MONDO:0018542 {source="DC-OMIM:615285", source="OMIM:615285"} ! severe congenital neutropenia intersection_of: MONDO:0018542 ! severe congenital neutropenia intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14579 ! VPS45 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14579 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14579 {source="MONDO:mim2gene_medgen"} ! VPS45 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14579 {source="OMIM:615285"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -324662,7 +322863,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system relationship: disease_has_feature HP:0000486 ! Strabismus relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:363528", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25151 {source="MONDO:mim2gene_medgen"} ! ADAT3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25151 {source="OMIM:615286"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -324688,7 +322889,7 @@ xref: UMLS:C3809042 {source="MEDGEN:815372", source="MONDO:equivalentTo", source is_a: MONDO:0000171 {source="OMIM:615287", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014120 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15685 {source="MONDO:mim2gene_medgen"} ! B4GAT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15685 {source="OMIM:615287"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -324715,7 +322916,6 @@ xref: Orphanet:363454 {source="MONDO:equivalentTo", source="OMIM:615290"} xref: UMLS:C4747715 {source="MEDGEN:1669929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001516 {source="DC-OMIM:615290"} ! spinal muscular atrophy is_a: MONDO:0018190 {source="DOID:0070349", source="OMIM:615290", source="Orphanet:363454"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17208 {source="MONDO:mim2gene_medgen"} ! BICD2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -324739,7 +322939,6 @@ xref: UMLS:C3809084 {source="MEDGEN:815414", source="MONDO:equivalentTo", source is_a: MONDO:0016824 {source="DC-OMIM:615293", source="MONDO:Redundant", source="OMIM:615293"} ! infantile myofibromatosis intersection_of: MONDO:0016824 ! infantile myofibromatosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7883 ! NOTCH3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7883 {source="MONDO:mim2gene_medgen"} ! NOTCH3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -324766,7 +322965,6 @@ xref: UMLS:C3809087 {source="MEDGEN:815417", source="MONDO:equivalentTo", source is_a: MONDO:0016575 {source="DC-OMIM:615294", source="DOID:0110596", source="MONDO:Redundant", source="OMIM:615294"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24245 ! DRC1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24245 {source="MONDO:mim2gene_medgen"} ! DRC1 [Term] id: MONDO:0014124 @@ -324788,8 +322986,8 @@ xref: UMLS:C3809092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:615297", source="Orphanet:974/btnt"} ! Adams-Oliver syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0007034 ! Adams-Oliver syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28526 ! EOGT -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28526 {source="MONDO:mim2gene_medgen"} ! EOGT +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28526 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28526 {source="OMIM:615297"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -324813,7 +323011,6 @@ xref: UMLS:C3809104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0008511 {source="DOID:0080788", source="MONDO:Redundant", source="OMIM:615298", source="Orphanet:3250/btnt"} ! proximal symphalangism intersection_of: MONDO:0008511 ! proximal symphalangism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 ! GDF5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5 [Term] id: MONDO:0014126 @@ -324836,7 +323033,6 @@ is_a: MONDO:0017312 {source="DC-OMIM:615300", source="MONDO:Redundant", source=" intersection_of: MONDO:0017312 ! Perrault syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17095 ! LARS2 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615300"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17095 {source="MONDO:mim2gene_medgen"} ! LARS2 [Term] id: MONDO:0014127 @@ -324889,7 +323085,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014128 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018113 {source="Orphanet:35098/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete isolated plagiocephaly relationship: excluded_subClassOf MONDO:0018114 {source="Orphanet:35099/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete isolated brachycephaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11623 {source="MONDO:mim2gene_medgen"} ! TCF12 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2657" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -324921,8 +323116,8 @@ xref: UMLS:C3809147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000118 {source="MONDO:Redundant", source="OMIM:615327"} ! reticulate pigment disorder is_a: MONDO:0008371 {source="MONDO:Redundant", source="Orphanet:79145/btnt"} ! Dowling-Degos disease intersection_of: MONDO:0008371 ! Dowling-Degos disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14988 ! POFUT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14988 {source="MONDO:mim2gene_medgen"} ! POFUT1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14988 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14988 {source="OMIM:615327"} [Term] id: MONDO:0014131 @@ -324944,7 +323139,6 @@ xref: UMLS:C3809160 {source="MEDGEN:815490", source="MONDO:equivalentTo", source is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:363523", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615328", source="Orphanet:363523"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18621 {source="MONDO:mim2gene_medgen"} ! COG6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -324974,7 +323168,6 @@ xref: UMLS:C3809165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017338 {source="DOID:0080135", source="MONDO:Redundant", source="OMIM:615330", source="Orphanet:363424"} ! fatal multiple mitochondrial dysfunctions syndrome intersection_of: MONDO:0017338 ! fatal multiple mitochondrial dysfunctions syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27302 ! IBA57 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27302 {source="MONDO:mim2gene_medgen"} ! IBA57 [Term] id: MONDO:0014133 @@ -325017,8 +323210,8 @@ xref: Orphanet:422 {source="OMIM:615342"} xref: UMLS:C3888002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854709"} is_a: MONDO:0017148 {source="MONDO:Redundant", source="OMIM:615342"} ! heritable pulmonary arterial hypertension intersection_of: MONDO:0017148 ! heritable pulmonary arterial hypertension -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6774 ! SMAD9 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6774 {source="MONDO:mim2gene_medgen"} ! SMAD9 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6774 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6774 {source="OMIM:615342"} [Term] id: MONDO:0014135 @@ -325039,7 +323232,6 @@ xref: UMLS:C3809192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017148 {source="MONDO:Redundant", source="OMIM:615343"} ! heritable pulmonary arterial hypertension intersection_of: MONDO:0017148 ! heritable pulmonary arterial hypertension intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1527 ! CAV1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1527 {source="MONDO:mim2gene_medgen"} ! CAV1 [Term] id: MONDO:0014136 @@ -325059,8 +323251,8 @@ xref: Orphanet:422 {source="OMIM:615344"} xref: UMLS:C3809198 {source="MEDGEN:815528", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017148 {source="MONDO:Redundant", source="OMIM:615344"} ! heritable pulmonary arterial hypertension intersection_of: MONDO:0017148 ! heritable pulmonary arterial hypertension -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6278 ! KCNK3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6278 {source="MONDO:mim2gene_medgen"} ! KCNK3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6278 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6278 {source="OMIM:615344"} [Term] id: MONDO:0014137 @@ -325081,8 +323273,8 @@ xref: Orphanet:759 {source="OMIM:615346"} xref: UMLS:C3809199 {source="MEDGEN:815529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019165 {source="DOID:0112309", source="MONDO:Redundant", source="OMIM:615346", source="Orphanet:759/btnt"} ! central precocious puberty intersection_of: MONDO:0019165 ! central precocious puberty -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7114 ! MKRN3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7114 {source="MONDO:mim2gene_medgen"} ! MKRN3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7114 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7114 {source="OMIM:615346"} [Term] id: MONDO:0014138 @@ -325109,9 +323301,9 @@ is_a: MONDO:0005336 {source="DOID:0110930/inferred", source="MONDO:Redundant", s is_a: MONDO:0015735 {source="Orphanet:171430/btnt"} ! severe congenital nemaline myopathy is_a: MONDO:0018958 {source="DOID:0110930", source="MONDO:Redundant", source="OMIM:615348"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30372 ! KLHL40 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30372 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014138 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30372 {source="MONDO:mim2gene_medgen"} ! KLHL40 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30372 {source="OMIM:615348"} [Term] id: MONDO:0014139 @@ -325143,7 +323335,6 @@ xref: UMLS:C3809210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0007526 {source="MONDO:Redundant", source="Orphanet:75496/btnt"} ! Ehlers-Danlos syndrome, spondylodysplastic type intersection_of: MONDO:0007526 ! Ehlers-Danlos syndrome, spondylodysplastic type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17978 ! B3GALT6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17978 {source="MONDO:mim2gene_medgen"} ! B3GALT6 [Term] id: MONDO:0014140 @@ -325166,7 +323357,6 @@ is_a: MONDO:0000171 {source="OMIM:615350"} ! muscular dystrophy-dystroglycanopat is_a: MONDO:0018939 ! muscle-eye-brain disease is_a: MONDO:0700084 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in GMPPB relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22932 {source="MONDO:mim2gene_medgen"} ! GMPPB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -325189,7 +323379,6 @@ xref: UMLS:C3809221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000172 {source="DC-OMIM:615351", source="DOID:0112377", source="OMIM:615351"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0700084 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in GMPPB relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22932 {source="MONDO:mim2gene_medgen"} ! GMPPB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -325229,7 +323418,6 @@ is_a: MONDO:0700084 {source="https://clinicalgenome.org/affiliation/50061/"} ! m intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22932 ! GMPPB relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22932 {source="MONDO:mim2gene_medgen"} ! GMPPB [Term] id: MONDO:0014143 @@ -325252,8 +323440,8 @@ xref: Orphanet:648 {source="OMIM:615355"} xref: UMLS:C3809233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815563"} is_a: MONDO:0018997 {source="DC-OMIM:615355", source="DOID:0060586", source="MONDO:Redundant", source="OMIM:615355"} ! Noonan syndrome intersection_of: MONDO:0018997 ! Noonan syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10023 ! RIT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10023 {source="MONDO:mim2gene_medgen"} ! RIT1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10023 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10023 {source="OMIM:615355"} [Term] id: MONDO:0014144 @@ -325283,8 +323471,8 @@ xref: UMLS:C4517996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015152 {source="DOID:0110287", source="MONDO:Redundant", source="OMIM:615356", source="Orphanet:369840"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0018243 ! intellectual disability-hyperkinetic movement-truncal ataxia syndrome intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25751 ! TRAPPC11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25751 {source="MONDO:mim2gene_medgen"} ! TRAPPC11 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25751 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25751 {source="OMIM:615356"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -325309,7 +323497,6 @@ is_a: MONDO:0018998 {source="DC-OMIM:615360", source="DOID:0110217", source="MON intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4221 ! GDF6 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4221 {source="MONDO:mim2gene_medgen"} ! GDF6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -325363,8 +323550,8 @@ xref: UMLS:C3715049 {source="MEDGEN:811566", source="MONDO:equivalentTo", source is_a: MONDO:0016295 {source="DOID:0110727", source="MONDO:Redundant", source="OMIM:615362", source="Orphanet:352709/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0019260 {source="Orphanet:352709"} ! adult neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2531 ! CTSF -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2531 {source="MONDO:mim2gene_medgen"} ! CTSF +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2531 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2531 {source="OMIM:615362"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -325392,7 +323579,6 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder is_a: MONDO:0005151 {source="Orphanet:785"} ! endocrine system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3467 {source="MONDO:mim2gene_medgen"} ! ESR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -325419,7 +323605,6 @@ xref: SCTID:763346009 {source="MONDO:equivalentTo"} xref: UMLS:C4706410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631944"} is_a: MONDO:0017436 {source="DC-OMIM:615368", source="OMIM:615368"} ! lethal congenital contracture syndrome is_a: MONDO:0019952 {source="Orphanet:363409"} ! congenital myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2974 {source="MONDO:mim2gene_medgen"} ! DNM2 [Term] id: MONDO:0014150 @@ -325447,7 +323632,7 @@ is_a: MONDO:0005579 {source="DOID:0060475"} ! epilepsy, idiopathic generalized is_a: MONDO:0016025 {source="Orphanet:1942/btnt"} ! myoclonic-astatic epilepsy is_a: MONDO:0016532 {source="Orphanet:2382/btnt"} ! Lennox-Gastaut syndrome is_a: MONDO:0100062 {source="OMIM:615369"} ! developmental and epileptic encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1917 {source="MONDO:mim2gene_medgen"} ! CHD2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1917 {source="OMIM:615369"} [Term] id: MONDO:0014151 @@ -325460,7 +323645,6 @@ xref: MEDGEN:811528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615371 {source="MONDO:equivalentTo"} xref: UMLS:C3714958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811528"} is_a: MONDO:0020573 {source="OMIM:615371"} ! inherited disease susceptibility -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2323 {source="MONDO:mim2gene_medgen"} ! CPS1 relationship: predisposes_towards MONDO:0100159 {source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary hypertension, neonatal property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5530" xsd:anyURI @@ -325485,7 +323669,6 @@ xref: OMIM:615373 {source="MONDO:equivalentTo"} xref: Orphanet:54260 {source="OMIM:615373"} xref: UMLS:C3809288 {source="MONDO:equivalentTo", source="MEDGEN:815618", source="MONDO:MEDGEN"} is_a: MONDO:0018901 {source="DC-OMIM:615373", source="OMIM:615373"} ! left ventricular noncompaction -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14000 {source="MONDO:mim2gene_medgen"} ! PRDM16 [Term] id: MONDO:0014153 @@ -325508,9 +323691,9 @@ xref: UMLS:C3809299 {source="MONDO:equivalentTo", source="MEDGEN:815629", source is_a: MONDO:0015993 {source="DC-OMIM:615374", source="DOID:0111024", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:615374"} ! cone-rod dystrophy is_a: MONDO:0100448 {source="https://clinicalgenome.org/affiliation/40072/"} ! RAB28-related retinopathy intersection_of: MONDO:0015993 ! cone-rod dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9768 ! RAB28 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9768 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9768 {source="MONDO:mim2gene_medgen"} ! RAB28 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9768 {source="OMIM:615374"} [Term] id: MONDO:0014154 @@ -325543,7 +323726,6 @@ is_a: MONDO:0015626 {source="DOID:0110198/inferred", source="MONDO:Redundant", s is_a: MONDO:0017058 {source="Orphanet:369867"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29105 ! PLEKHG5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29105 {source="MONDO:mim2gene_medgen"} ! PLEKHG5 [Term] id: MONDO:0014155 @@ -325564,7 +323746,6 @@ xref: UMLS:C3809311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018054 {source="DC-OMIM:615377", source="MONDO:Redundant", source="OMIM:615377"} ! familial atrial fibrillation intersection_of: MONDO:0018054 ! familial atrial fibrillation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10586 ! SCN1B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10586 {source="MONDO:mim2gene_medgen"} ! SCN1B [Term] id: MONDO:0014156 @@ -325584,8 +323765,8 @@ xref: Orphanet:334 {source="OMIM:615378"} xref: UMLS:C3809312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815642"} is_a: MONDO:0018054 {source="DC-OMIM:615378", source="MONDO:Redundant", source="OMIM:615378"} ! familial atrial fibrillation intersection_of: MONDO:0018054 ! familial atrial fibrillation -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10589 ! SCN2B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10589 {source="MONDO:mim2gene_medgen"} ! SCN2B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10589 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10589 {source="OMIM:615378"} [Term] id: MONDO:0014157 @@ -325609,7 +323790,6 @@ xref: Orphanet:363649 {source="MONDO:equivalentTo", source="OMIM:615381"} xref: UMLS:C3715192 {source="MEDGEN:811623", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019303 {source="Orphanet:363649"} ! premature aging syndrome relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:363649", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9175 {source="MONDO:mim2gene_medgen"} ! POLD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI [Term] @@ -325640,10 +323820,10 @@ xref: SCTID:444558002 {source="MONDO:equivalentTo"} xref: UMLS:C3809320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815650"} is_a: MONDO:0019005 {source="DOID:0111124", source="MONDO:Redundant", source="OMIM:615382", source="Orphanet:93591"} ! nephronophthisis intersection_of: MONDO:0019005 ! nephronophthisis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26724 ! ANKS6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26724 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014158 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615382", source="Orphanet:93591"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26724 {source="MONDO:mim2gene_medgen"} ! ANKS6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26724 {source="OMIM:615382"} [Term] id: MONDO:0014159 @@ -325680,7 +323860,6 @@ xref: UMLS:C4706415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015244 {source="DOID:0080058", source="MONDO:Redundant", source="OMIM:615386", source="Orphanet:352403"} ! autosomal recessive cerebellar ataxia intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11276 ! SPTBN2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11276 {source="MONDO:mim2gene_medgen"} ! SPTBN2 [Term] id: MONDO:0014160 @@ -325708,7 +323887,7 @@ xref: Orphanet:397959 {source="MONDO:equivalentTo", source="OMIM:615387"} xref: UMLS:C3809332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815662"} is_a: MONDO:0018814 {source="Orphanet:397959", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014160 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12029 {source="MONDO:mim2gene_medgen"} ! TRAC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12029 {source="OMIM:615387"} [Term] id: MONDO:0014161 @@ -325751,8 +323930,8 @@ xref: UMLS:C3809339 {source="MEDGEN:815669", source="MONDO:equivalentTo", source is_a: MONDO:0000732 {source="DC-OMIM:615395", source="DOID:0111469", source="MONDO:Redundant", source="OMIM:615395"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16650 {source="MONDO:mim2gene_medgen"} ! MRPL44 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16650 {source="MONDO:mim2gene_medgen"} ! MRPL44 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16650 {source="MONDO:mim2gene_medgen"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16650 {source="OMIM:615395"} [Term] id: MONDO:0014163 @@ -325776,7 +323955,6 @@ xref: UMLS:C3715165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018901 {source="DC-OMIM:615396", source="MONDO:Redundant", source="OMIM:615396"} ! left ventricular noncompaction intersection_of: MONDO:0018901 ! left ventricular noncompaction intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7551 ! MYBPC3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7551 {source="MONDO:mim2gene_medgen"} ! MYBPC3 [Term] id: MONDO:0014164 @@ -325797,7 +323975,6 @@ xref: UMLS:C3809352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018921 {source="DC-OMIM:615397", source="MONDO:Redundant", source="OMIM:615397"} ! Meckel syndrome intersection_of: MONDO:0018921 ! Meckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37234 ! TMEM231 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37234 {source="MONDO:mim2gene_medgen"} ! TMEM231 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -325841,7 +324018,6 @@ intersection_of: MONDO:0100247 ! multiple congenital anomalies-hypotonia-seizure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14938 ! PIGT relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:369837", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0019699 {source="Orphanet:369837", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete slender bone dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14938 {source="MONDO:mim2gene_medgen"} ! PIGT property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6289" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -325894,9 +324070,9 @@ xref: Orphanet:86814 {source="OMIM:615400"} xref: UMLS:C3809374 {source="MEDGEN:815704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000160 {source="DC-OMIM:615400", source="DOID:0111691", source="MONDO:Redundant", source="OMIM:615400"} ! epilepsy, familial adult myoclonic intersection_of: MONDO:0000160 ! epilepsy, familial adult myoclonic -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2172 ! CNTN2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2172 relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2172 {source="MONDO:mim2gene_medgen"} ! CNTN2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2172 {source="OMIM:615400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -325928,7 +324104,7 @@ xref: UMLS:C3809383 {source="MEDGEN:815713", source="MONDO:equivalentTo", source is_a: MONDO:0015974 {source="DOID:0060019", source="Orphanet:228003/inferred"} ! severe combined immunodeficiency is_a: MONDO:0044200 {source="Orphanet:228003", source="PMID:31953710"} ! T-B+ severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014168 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2252 {source="MONDO:mim2gene_medgen"} ! CORO1A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2252 {source="OMIM:615401"} [Term] id: MONDO:0014169 @@ -325949,7 +324125,6 @@ xref: UMLS:C3809394 {source="MEDGEN:815724", source="MONDO:equivalentTo", source is_a: MONDO:0000736 {source="MONDO:Redundant", source="OMIM:615402", source="Orphanet:241/btnt"} ! dyschromatosis universalis hereditaria intersection_of: MONDO:0000736 ! dyschromatosis universalis hereditaria intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/47 ! ABCB6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/47 {source="MONDO:mim2gene_medgen"} ! ABCB6 [Term] id: MONDO:0014170 @@ -325968,8 +324143,8 @@ xref: UMLS:C3809414 {source="MEDGEN:815744", source="MONDO:equivalentTo", source is_a: MONDO:0000904 {source="DOID:0090134", source="MONDO:Redundant", source="OMIM:615411"} ! complex cortical dysplasia with other brain malformations is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6318 ! KIF2A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6318 {source="MONDO:mim2gene_medgen"} ! KIF2A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6318 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6318 {source="OMIM:615411"} [Term] id: MONDO:0014171 @@ -325988,8 +324163,8 @@ xref: UMLS:C3809420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000904 {source="DOID:0090138", source="MONDO:Redundant", source="OMIM:615412"} ! complex cortical dysplasia with other brain malformations is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12417 ! TUBG1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12417 {source="MONDO:mim2gene_medgen"} ! TUBG1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12417 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12417 {source="OMIM:615412"} [Term] id: MONDO:0014172 @@ -326013,9 +324188,9 @@ is_a: MONDO:0004983 {source="DC-OMIM:615413", source="DOID:0070171", source="MON is_a: MONDO:0018394 {source="Orphanet:399808/btnt"} ! male infertility with teratozoospermia due to single gene mutation intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23044 ! NANOS1 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23044 ! NANOS1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23044 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23044 {source="MONDO:mim2gene_medgen"} ! NANOS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23044 {source="MONDO:mim2gene_medgen"} ! NANOS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23044 {source="OMIM:615413"} [Term] id: MONDO:0014173 @@ -326034,8 +324209,8 @@ xref: OMIM:615414 {source="MONDO:equivalentTo"} xref: UMLS:C3809431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815761"} is_a: MONDO:0016660 {source="DC-OMIM:615414", source="DOID:0070287", source="MONDO:Redundant", source="OMIM:615414"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3182 ! PHC1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3182 {source="MONDO:mim2gene_medgen"} ! PHC1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3182 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3182 {source="OMIM:615414"} [Term] id: MONDO:0014174 @@ -326058,7 +324233,6 @@ is_a: MONDO:0017417 {source="DC-OMIM:615415", source="MONDO:Redundant", source=" intersection_of: MONDO:0017417 ! renal-hepatic-pancreatic dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13387 ! NEK8 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014174 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13387 {source="MONDO:mim2gene_medgen"} ! NEK8 [Term] id: MONDO:0014175 @@ -326087,7 +324261,6 @@ xref: UMLS:C3809443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004069 {source="DOID:0080335"} ! inborn mitochondrial metabolism disorder is_a: MONDO:0018158 {source="DC-OMIM:615418", source="DOID:0080335", source="MONDO:Redundant", source="OMIM:615418"} ! mitochondrial DNA depletion syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014175 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10990 {source="MONDO:mim2gene_medgen"} ! SLC25A4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -326129,7 +324302,7 @@ xref: OMIM:615420 {source="MONDO:equivalentTo"} xref: UMLS:C3809464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815794"} is_a: MONDO:0001384 {source="DC-OMIM:615420", source="OMIM:615420"} ! myopia is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26575 {source="MONDO:mim2gene_medgen"} ! PRIMPOL +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26575 {source="OMIM:615420"} [Term] id: MONDO:0014178 @@ -326152,7 +324325,6 @@ xref: UMLS:C3809468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000507 {source="DOID:0111384", source="MONDO:Redundant", source="OMIM:615422", source="Orphanet:52430", source="https://orcid.org/0000-0002-6601-2165"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia intersection_of: MONDO:0000507 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5033 ! HNRNPA2B1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5033 {source="MONDO:mim2gene_medgen"} ! HNRNPA2B1 [Term] id: MONDO:0014179 @@ -326176,7 +324348,6 @@ xref: UMLS:C3809469 {source="MEDGEN:815799", source="MONDO:equivalentTo", source is_a: MONDO:0000507 {source="DOID:0111386", source="MONDO:Redundant", source="OMIM:615424", source="Orphanet:52430", source="https://orcid.org/0000-0002-6601-2165"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia intersection_of: MONDO:0000507 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5031 ! HNRNPA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5031 {source="MONDO:mim2gene_medgen"} ! HNRNPA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -326203,7 +324374,6 @@ xref: OMIM:615425 {source="MONDO:equivalentTo", source="Orphanet:412181", source xref: Orphanet:412181 {source="OMIM:615425", source="MONDO:equivalentTo"} xref: UMLS:C3809470 {source="MEDGEN:815800", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017610 {source="OMIM:615425", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1090 {source="MONDO:mim2gene_medgen"} ! DST property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -326228,7 +324398,6 @@ xref: UMLS:C3715156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005144 {source="DOID:0060211", source="MONDO:Redundant", source="OMIM:615426"} ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5031 ! HNRNPA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5031 {source="MONDO:mim2gene_medgen"} ! HNRNPA1 [Term] id: MONDO:0014182 @@ -326254,7 +324423,6 @@ xref: UMLS:C2829267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019588 {source="DC-OMIM:615429", source="DOID:0110533", source="MONDO:Redundant", source="OMIM:615429"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26158 ! ELMOD3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26158 {source="MONDO:mim2gene_medgen"} ! ELMOD3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -326272,7 +324440,7 @@ xref: OMIM:615431 {source="MONDO:equivalentTo"} xref: Orphanet:98619 {source="OMIM:615431"} xref: UMLS:C3809482 {source="MEDGEN:815812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001384 {source="DC-OMIM:615431", source="MONDO:Redundant", source="OMIM:615431", source="Orphanet:98619/btnt"} ! myopia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6701 {source="MONDO:mim2gene_medgen"} ! LRPAP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6701 {source="OMIM:615431"} [Term] id: MONDO:0014184 @@ -326288,7 +324456,7 @@ xref: OMIM:615432 {source="EFO:0005425", source="MONDO:equivalentTo"} xref: UMLS:C3809483 {source="MEDGEN:815813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000724 {source="DC-OMIM:615432", source="OMIM:615432"} ! specific language impairment is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26230 {source="MONDO:mim2gene_medgen"} ! TM4SF20 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26230 {source="OMIM:615432"} [Term] id: MONDO:0014185 @@ -326339,9 +324507,9 @@ xref: OMIM:615434 {source="DOID:0110419", source="MONDO:equivalentTo"} xref: UMLS:C4747737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1658130"} is_a: MONDO:0019200 {source="DC-OMIM:615434", source="DOID:0110419", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:615434"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17146 ! ARL2BP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17146 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014186 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17146 {source="MONDO:mim2gene_medgen"} ! ARL2BP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17146 {source="OMIM:615434"} [Term] id: MONDO:0014187 @@ -326362,8 +324530,8 @@ xref: Orphanet:91387 {source="OMIM:615436"} xref: UMLS:C3809513 {source="MEDGEN:815843", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:615436", source="Orphanet:91387/btnt"} ! familial thoracic aortic aneurysm and aortic dissection intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9414 ! PRKG1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9414 {source="MONDO:mim2gene_medgen"} ! PRKG1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9414 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9414 {source="OMIM:615436"} [Term] id: MONDO:0014188 @@ -326393,7 +324561,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0005150 ! age-related macular degeneration relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: excluded_subClassOf MONDO:0005150 {source="DC-OMIM:615439", source="DOID:0110025", source="OMIM:615439", source="https://orcid.org/0000-0001-5208-3432"} ! age-related macular degeneration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5394 {source="MONDO:mim2gene_medgen"} ! CFI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -326422,7 +324589,6 @@ is_a: MONDO:0000732 {source="DC-OMIM:615440", source="DOID:0111496", source="MON is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14198 ! ELAC2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14198 {source="MONDO:mim2gene_medgen"} ! ELAC2 [Term] id: MONDO:0014191 @@ -326448,8 +324614,8 @@ xref: Orphanet:3286 {source="OMIM:615441"} xref: UMLS:C3809536 {source="MEDGEN:815866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017990 {source="DC-OMIM:615441", source="DOID:0060679", source="MONDO:Redundant", source="OMIM:615441"} ! catecholaminergic polymorphic ventricular tachycardia intersection_of: MONDO:0017990 ! catecholaminergic polymorphic ventricular tachycardia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12261 ! TRDN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12261 {source="MONDO:mim2gene_medgen"} ! TRDN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12261 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12261 {source="OMIM:615441"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -326476,9 +324642,9 @@ xref: OMIM:615444 {source="MONDO:equivalentTo", source="DOID:0110597"} xref: UMLS:C3809543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815873"} is_a: MONDO:0016575 {source="DC-OMIM:615444", source="DOID:0110597", source="MONDO:Redundant", source="OMIM:615444"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19412 ! ZMYND10 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19412 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014192 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19412 {source="MONDO:mim2gene_medgen"} ! ZMYND10 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19412 {source="OMIM:615444"} [Term] id: MONDO:0014193 @@ -326505,9 +324671,9 @@ xref: Orphanet:244 {source="OMIM:615451"} xref: UMLS:C3809548 {source="MEDGEN:815878", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:615451", source="DOID:0110609", source="MONDO:Redundant", source="OMIM:615451"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25583 ! ODAD2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25583 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014193 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25583 {source="MONDO:mim2gene_medgen"} ! ODAD2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25583 {source="OMIM:615451"} [Term] id: MONDO:0014194 @@ -326530,8 +324696,8 @@ is_a: MONDO:0000066 {source="DC-OMIM:615453", source="MONDO:indirect"} ! mitocho is_a: MONDO:0015448 {source="DOID:0080115", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="OMIM:615453", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2579 ! CYC1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2579 {source="MONDO:mim2gene_medgen"} ! CYC1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2579 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2579 {source="OMIM:615453"} [Term] id: MONDO:0014195 @@ -326556,7 +324722,7 @@ xref: Orphanet:369970 {source="OMIM:615458", source="MONDO:equivalentTo"} xref: UMLS:C3809567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815897"} is_a: MONDO:0019118 {source="Orphanet:369970"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014195 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17110 {source="MONDO:mim2gene_medgen"} ! ADAMTS18 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17110 {source="OMIM:615458"} [Term] id: MONDO:0014196 @@ -326588,7 +324754,6 @@ is_a: MONDO:0015159 {source="Orphanet:2117"} ! multiple congenital anomalies/dys is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014196 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2117", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 {source="MONDO:mim2gene_medgen"} ! FGFR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -326620,7 +324785,7 @@ is_a: MONDO:0015131 {source="DOID:0111988", source="https://orcid.org/0000-0002- is_a: MONDO:0021094 {source="OMIM:615468"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014197 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:397964", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6819 {source="MONDO:mim2gene_medgen"} ! MALT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6819 {source="OMIM:615468"} [Term] id: MONDO:0014198 @@ -326655,8 +324820,8 @@ xref: UMLS:C3809592 {source="MEDGEN:815922", source="MONDO:equivalentTo", source is_a: MONDO:0016796 {source="Orphanet:369897"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form is_a: MONDO:0018158 {source="MONDO:Redundant", source="OMIM:615471", source="Orphanet:369897/inferred"} ! mitochondrial DNA depletion syndrome intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13601 ! FBXL4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13601 {source="MONDO:mim2gene_medgen"} ! FBXL4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13601 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13601 {source="OMIM:615471"} [Term] id: MONDO:0014199 @@ -326682,7 +324847,6 @@ xref: UMLS:C3809606 {source="MEDGEN:815936", source="MONDO:equivalentTo", source is_a: MONDO:0100062 {source="DC-OMIM:615473", source="DOID:0080450", source="MONDO:Redundant", source="OMIM:615473"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4389 ! GNAO1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4389 {source="MONDO:mim2gene_medgen"} ! GNAO1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -326712,7 +324876,6 @@ xref: Orphanet:85142 {source="MONDO:relatedTo"} xref: UMLS:C3809609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815939"} is_a: MONDO:0001422 {source="MONDO:0016507-obsoleted"} ! primary aldosteronism is_a: MONDO:0016525 {source="Orphanet:369929"} ! familial hyperaldosteronism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1391 {source="MONDO:mim2gene_medgen"} ! CACNA1D [Term] id: MONDO:0014201 @@ -326737,7 +324900,7 @@ xref: UMLS:C3809624 {source="MEDGEN:815954", source="MONDO:equivalentTo", source is_a: MONDO:0015159 {source="Orphanet:369894"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020071 {source="Orphanet:369894"} ! infantile epilepsy syndrome is_a: MONDO:0100062 {source="DC-OMIM:615476", source="DOID:0080413", source="OMIM:615476"} ! developmental and epileptic encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29040 {source="MONDO:mim2gene_medgen"} ! SZT2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29040 {source="OMIM:615476"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -326765,9 +324928,9 @@ xref: OMIM:615481 {source="DOID:0110628", source="MONDO:equivalentTo"} xref: UMLS:C3809634 {source="MEDGEN:815964", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:615481", source="DOID:0110628", source="MONDO:Redundant", source="OMIM:615481"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12371 ! RSPH1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12371 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014202 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12371 {source="MONDO:mim2gene_medgen"} ! RSPH1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12371 {source="OMIM:615481"} [Term] id: MONDO:0014203 @@ -326793,7 +324956,6 @@ xref: UMLS:C3809641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016575 {source="DC-OMIM:615482", source="DOID:0110615", source="MONDO:Redundant", source="OMIM:615482"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21493 ! DNAAF4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21493 {source="MONDO:mim2gene_medgen"} ! DNAAF4 [Term] id: MONDO:0014204 @@ -326810,7 +324972,6 @@ xref: Orphanet:1980 {source="OMIM:615483"} xref: UMLS:C3809645 {source="MEDGEN:815975", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:615483", source="Orphanet:1980/btnt"} ! bilateral striopallidodentate calcinosis relationship: has_characteristic MONDO:0700005 ! idiopathic -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8800 {source="MONDO:mim2gene_medgen"} ! PDGFB [Term] id: MONDO:0014205 @@ -326836,7 +324997,7 @@ xref: Orphanet:352577 {source="MONDO:equivalentTo", source="OMIM:615485"} xref: UMLS:C4750837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1656239"} is_a: MONDO:0015159 {source="Orphanet:352577"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:352577", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29357 {source="MONDO:mim2gene_medgen"} ! ASXL3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29357 {source="OMIM:615485"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -326864,7 +325025,6 @@ xref: Orphanet:370088 {source="MONDO:relatedTo", source="OMIM:615486"} xref: Orphanet:440427 {source="MONDO:equivalentTo"} xref: UMLS:C4225400 {source="MEDGEN:895551", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001437 {source="https://orcid.org/0000-0002-6601-2165"} ! pulmonary alveolar proteinosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6898 {source="MONDO:mim2gene_medgen"} ! MARS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2420" xsd:anyURI [Term] @@ -326918,8 +325078,8 @@ xref: UMLS:C3809655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015626 {source="DOID:0110161/inferred", source="MONDO:Redundant", source="OMIM:615490", source="Orphanet:397968/inferred"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018993 {source="DOID:0110161", source="MONDO:Entailed", source="MONDO:Redundant"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15974 ! TRIM2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15974 {source="MONDO:mim2gene_medgen"} ! TRIM2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15974 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15974 {source="OMIM:615490"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12451/charcot-marie-tooth-disease-type-2r" xsd:anyURI {source="GARD:0012451"} @@ -326946,7 +325106,6 @@ xref: Orphanet:352654 {source="MONDO:equivalentTo", source="OMIM:615491"} xref: UMLS:C3809665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815995"} is_a: MONDO:0019064 {source="DOID:0112344", source="MONDO:Redundant", source="OMIM:615491"} ! hereditary spastic paraplegia is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:352654"} ! inherited neurodegenerative disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12513 {source="MONDO:mim2gene_medgen"} ! UCHL1 [Term] id: MONDO:0014210 @@ -326971,7 +325130,7 @@ xref: OMIM:615493 {source="Orphanet:356996", source="MONDO:equivalentTo", source xref: Orphanet:356996 {source="MONDO:equivalentTo", source="OMIM:615493"} xref: UMLS:C3809672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816002"} is_a: MONDO:0000508 {source="Orphanet:356996", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/494 {source="MONDO:mim2gene_medgen"} ! ANK3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/494 {source="OMIM:615493"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -326999,9 +325158,9 @@ xref: OMIM:615500 {source="MONDO:equivalentTo", source="DOID:0110627"} xref: UMLS:C3809684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816014"} is_a: MONDO:0016575 {source="DC-OMIM:615500", source="DOID:0110627", source="MONDO:Redundant", source="OMIM:615500"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1301 ! CFAP298 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1301 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014211 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1301 {source="MONDO:mim2gene_medgen"} ! CFAP298 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1301 {source="OMIM:615500"} [Term] id: MONDO:0014212 @@ -327035,7 +325194,7 @@ xref: PMID:11095995 {source="DOID:0111166"} xref: UMLS:C1854990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340761"} is_a: MONDO:0020480 {source="DOID:0111166", source="OMIM:615501", source="Orphanet:308400"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014212 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15465 {source="MONDO:mim2gene_medgen"} ! GPHN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15465 {source="OMIM:615501"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -327067,7 +325226,7 @@ is_a: MONDO:0015159 {source="Orphanet:363611"} ! multiple congenital anomalies/d is_a: MONDO:0100172 {source="OMIM:615502"} ! intellectual disability, autosomal dominant relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070051", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13723 {source="MONDO:mim2gene_medgen"} ! CTCF +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13723 {source="OMIM:615502"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -327091,7 +325250,7 @@ xref: Orphanet:93271 {source="OMIM:615503"} xref: UMLS:C3809691 {source="MEDGEN:816021", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018770 {source="DOID:0110094", source="OMIM:615503"} ! Jeune syndrome relationship: excluded_subClassOf MONDO:0013127 {source="Orphanet:93271/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! asphyxiating thoracic dystrophy 3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21862 {source="MONDO:mim2gene_medgen"} ! DYNC2I1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21862 {source="OMIM:615503"} [Term] id: MONDO:0014215 @@ -327116,8 +325275,8 @@ xref: OMIM:615504 {source="DOID:0110611", source="MONDO:equivalentTo"} xref: UMLS:C3809701 {source="MONDO:equivalentTo", source="MEDGEN:816031", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:615504", source="DOID:0110611", source="MONDO:Redundant", source="OMIM:615504"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29937 ! CCDC65 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29937 {source="MONDO:mim2gene_medgen"} ! CCDC65 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29937 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29937 {source="OMIM:615504"} [Term] id: MONDO:0014216 @@ -327143,9 +325302,9 @@ xref: OMIM:615505 {source="MONDO:equivalentTo", source="DOID:0110607"} xref: UMLS:C3809706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816036"} is_a: MONDO:0016575 {source="DC-OMIM:615505", source="DOID:0110607", source="MONDO:Redundant", source="OMIM:615505"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11212 ! SPAG1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11212 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014216 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11212 {source="MONDO:mim2gene_medgen"} ! SPAG1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11212 {source="OMIM:615505"} [Term] id: MONDO:0014217 @@ -327167,10 +325326,10 @@ xref: Orphanet:774 {source="OMIM:615506"} xref: UMLS:C3809710 {source="MEDGEN:816040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019180 {source="DC-OMIM:615506", source="MONDO:Redundant", source="OMIM:615506"} ! hereditary hemorrhagic telangiectasia intersection_of: MONDO:0019180 ! hereditary hemorrhagic telangiectasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4217 ! GDF2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4217 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014217 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615506"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4217 {source="MONDO:mim2gene_medgen"} ! GDF2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4217 {source="OMIM:615506"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6195" xsd:anyURI [Term] @@ -327200,7 +325359,6 @@ relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0019275-obsoleted relationship: excluded_subClassOf MONDO:0005271 {source="Orphanet:369992", source="https://orcid.org/0000-0001-5208-3432"} ! allergic disease relationship: excluded_subClassOf MONDO:0018037 {source="Orphanet:369992", source="https://orcid.org/0000-0001-5208-3432"} ! hyper-IgE syndrome relationship: excluded_subClassOf MONDO:0019268 {source="MONDO:0019274-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epidermal disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3048 {source="MONDO:mim2gene_medgen"} ! DSG1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5914" xsd:anyURI @@ -327224,7 +325382,7 @@ xref: UMLS:C4706563 {source="MEDGEN:1640947", source="MONDO:equivalentTo", sourc is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0112321"} ! autosomal recessive disease relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615510"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22923 {source="MONDO:mim2gene_medgen"} ! GMPPA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22923 {source="OMIM:615510"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI [Term] @@ -327251,7 +325409,7 @@ xref: Orphanet:45 {source="OMIM:615511", source="GARD:0000547"} xref: UMLS:C3714933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811508"} is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy relationship: excluded_subClassOf MONDO:0013028 {source="Orphanet:45/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! adenosine monophosphate deaminase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/468 {source="MONDO:mim2gene_medgen"} ! AMPD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/468 {source="OMIM:615511"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency" xsd:anyURI {source="GARD:0000547"} [Term] @@ -327287,7 +325445,7 @@ is_a: MONDO:0003664 ! hemolytic anemia is_a: MONDO:0017688 {source="MONDO:Redundant", source="Orphanet:868", source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0019052 {source="MESH:C566029/inferred", source="MONDO:Redundant", source="NCIT:C131652", source="Orphanet:868/inferred"} ! inborn errors of metabolism is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12009 {source="MONDO:mim2gene_medgen"} ! TPI1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12009 {source="OMIM:615512"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5287/triosephosphate-isomerase-deficiency" xsd:anyURI {source="GARD:0005287"} @@ -327315,7 +325473,6 @@ xref: Orphanet:397596 {source="OMIM:615513"} xref: UMLS:C3714976 {source="MEDGEN:811535", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018338 {source="Orphanet:397596/btnt"} ! activated PI3K-delta syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014222 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8977 {source="MONDO:mim2gene_medgen"} ! PIK3CD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -327339,9 +325496,9 @@ xref: Orphanet:803 {source="OMIM:615515"} xref: UMLS:C3715155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811607"} is_a: MONDO:0005144 {source="DOID:0060210", source="MONDO:Redundant", source="OMIM:615515"} ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3432 ! ERBB4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3432 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014223 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3432 {source="MONDO:mim2gene_medgen"} ! ERBB4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3432 {source="OMIM:615515"} [Term] id: MONDO:0014224 @@ -327370,7 +325527,6 @@ is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodeve relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0019502 {source="OMIM:615516", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive non-syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4868 {source="MONDO:mim2gene_medgen"} ! HERC2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -327405,7 +325561,6 @@ xref: UMLS:C1851316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0006507 {source="DOID:0111031", source="MONDO:Redundant", source="OMIM:615517", source="Orphanet:447792"} ! hereditary hemochromatosis intersection_of: MONDO:0006507 ! hereditary hemochromatosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3976 ! FTH1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3976 {source="MONDO:mim2gene_medgen"} ! FTH1 [Term] id: MONDO:0014226 @@ -327435,7 +325590,6 @@ xref: UMLS:C3809768 {source="MEDGEN:816098", source="MONDO:equivalentTo", source is_a: MONDO:0021094 {source="OMIM:615518"} ! immunodeficiency disease relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:228000", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency relationship: has_characteristic MONDO:0700005 ! idiopathic -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12565 {source="MONDO:mim2gene_medgen"} ! UNC119 [Term] id: MONDO:0014227 @@ -327464,7 +325618,6 @@ xref: SCTID:711154007 {source="MONDO:equivalentTo"} xref: UMLS:C3809781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816111"} is_a: MONDO:0000426 {source="https://github.com/monarch-initiative/mondo/pull/2317"} ! autosomal dominant disease relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615522", source="Orphanet:324561"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3356 {source="MONDO:mim2gene_medgen"} ! ENPP1 [Term] id: MONDO:0014228 @@ -327485,8 +325638,8 @@ xref: Orphanet:98974 {source="OMIM:615523"} xref: UMLS:C3809798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816128"} is_a: MONDO:0005321 {source="DC-OMIM:615523", source="MONDO:Redundant", source="OMIM:615523"} ! Fuchs' endothelial dystrophy intersection_of: MONDO:0005321 ! Fuchs' endothelial dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26504 ! AGBL1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26504 {source="MONDO:mim2gene_medgen"} ! AGBL1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26504 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26504 {source="OMIM:615523"} [Term] id: MONDO:0014229 @@ -327510,8 +325663,8 @@ xref: Orphanet:2470 {source="OMIM:615524"} xref: UMLS:C3809803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816133"} is_a: MONDO:0016073 {source="DOID:0111800", source="MONDO:Redundant", source="OMIM:615524"} ! syndromic microphthalmia intersection_of: MONDO:0016073 ! syndromic microphthalmia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9865 ! RARB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9865 {source="MONDO:mim2gene_medgen"} ! RARB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9865 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9865 {source="OMIM:615524"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13235/syndromic-microphthalmia-12" xsd:anyURI {source="GARD:0013235"} [Term] @@ -327534,7 +325687,6 @@ xref: UMLS:C3714992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015279 {source="OMIM:615527"} ! chronic mucocutaneous candidiasis intersection_of: MONDO:0015279 ! chronic mucocutaneous candidiasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1343 ! TRAF3IP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1343 {source="MONDO:mim2gene_medgen"} ! TRAF3IP2 [Term] id: MONDO:0014231 @@ -327565,7 +325717,6 @@ is_a: MONDO:0005180 {source="DOID:0060891/inferred", source="MONDO:Redundant", s is_a: MONDO:0018321 {source="Orphanet:391411/btnt"} ! atypical juvenile parkinsonism intersection_of: MONDO:0005180 ! Parkinson disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15469 ! DNAJC6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15469 {source="MONDO:mim2gene_medgen"} ! DNAJC6 [Term] id: MONDO:0014232 @@ -327584,7 +325735,6 @@ xref: UMLS:C3809819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/450 ! ALX4 intersection_of: predisposes_towards MONDO:0015469 ! craniosynostosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/450 {source="MONDO:mim2gene_medgen"} ! ALX4 [Term] id: MONDO:0014233 @@ -327608,7 +325758,6 @@ is_a: MONDO:0005180 {source="DOID:0060898/inferred", source="MONDO:Redundant", s is_a: MONDO:0017279 {source="DOID:0060898"} ! young-onset Parkinson disease intersection_of: MONDO:0005180 ! Parkinson disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11503 ! SYNJ1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11503 {source="MONDO:mim2gene_medgen"} ! SYNJ1 [Term] id: MONDO:0014234 @@ -327638,7 +325787,6 @@ xref: SCTID:239133004 {source="MONDO:equivalentTo", source="DOID:0060258"} xref: UMLS:C0406811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98363"} is_a: MONDO:0000118 {source="DC-OMIM:615537", source="OMIM:615537"} ! reticulate pigment disorder is_a: MONDO:0019289 {source="Orphanet:178307"} ! hyperpigmentation of the skin -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/188 {source="MONDO:mim2gene_medgen"} ! ADAM10 [Term] id: MONDO:0014235 @@ -327680,8 +325828,8 @@ xref: Orphanet:2953 {source="OMIM:615539"} xref: UMLS:C3809845 {source="MEDGEN:816175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011142 {source="MONDO:Redundant", source="Orphanet:2953/btnt"} ! Ehlers-Danlos syndrome, musculocontractural type intersection_of: MONDO:0011142 ! Ehlers-Danlos syndrome, musculocontractural type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21144 ! DSE -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21144 {source="MONDO:mim2gene_medgen"} ! DSE +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21144 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21144 {source="OMIM:615539"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -327709,8 +325857,8 @@ xref: Orphanet:90636 {source="OMIM:615540"} xref: UMLS:C3147083 {source="MEDGEN:811137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:615540", source="DOID:0110524", source="MONDO:Redundant", source="OMIM:615540"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26703 ! SYNE4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26703 {source="MONDO:mim2gene_medgen"} ! SYNE4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26703 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26703 {source="OMIM:615540"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -327738,7 +325886,7 @@ xref: Orphanet:391307 {source="MONDO:equivalentTo", source="OMIM:615541"} xref: UMLS:C3809853 {source="MEDGEN:816183", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015159 {source="Orphanet:391307"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:391307", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26262 {source="MONDO:mim2gene_medgen"} ! TTI2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26262 {source="OMIM:615541"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -327755,7 +325903,6 @@ xref: OMIM:615542 {source="MONDO:equivalentTo"} xref: Orphanet:251510 {source="OMIM:615542"} xref: UMLS:C3809858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816188"} is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 {source="MONDO:mim2gene_medgen"} ! GATA4 [Term] id: MONDO:0014240 @@ -327777,8 +325924,8 @@ xref: Orphanet:98892 {source="OMIM:615544"} xref: UMLS:C3809872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816202"} is_a: MONDO:0020341 {source="DC-OMIM:615544", source="MONDO:Redundant", source="OMIM:615544"} ! periventricular nodular heterotopia intersection_of: MONDO:0020341 ! periventricular nodular heterotopia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21056 ! ERMARD -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21056 {source="MONDO:mim2gene_medgen"} ! ERMARD +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21056 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21056 {source="OMIM:615544"} [Term] id: MONDO:0014241 @@ -327802,10 +325949,10 @@ xref: Orphanet:99860 {source="OMIM:615545"} xref: UMLS:C3809874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816204"} is_a: MONDO:0020573 {source="OMIM:615545"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8619 ! PAX5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8619 intersection_of: predisposes_towards MONDO:0004967 ! acute lymphoblastic leukemia relationship: excluded_subClassOf MONDO:0020511 {source="Orphanet:99860/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! precursor B-cell acute lymphoblastic leukemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8619 {source="MONDO:mim2gene_medgen"} ! PAX5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8619 {source="OMIM:615545"} relationship: predisposes_towards MONDO:0004967 ! acute lymphoblastic leukemia [Term] @@ -327830,7 +325977,6 @@ xref: UMLS:C3809875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017813 {source="DC-OMIM:615546", source="DOID:0080586", source="MONDO:Redundant", source="OMIM:615546"} ! van Maldergem syndrome intersection_of: MONDO:0017813 ! van Maldergem syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23109 ! FAT4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23109 {source="MONDO:mim2gene_medgen"} ! FAT4 [Term] id: MONDO:0014243 @@ -327868,7 +326014,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0008300 {source="Orphanet:398069"} ! Prader-Willi syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014243 {source="MONDO:CLINGEN"} relationship: has_characteristic SO:1000008 ! point_mutation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6814 {source="MONDO:mim2gene_medgen"} ! MAGEL2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6814 {source="OMIM:615547"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3338" xsd:anyURI [Term] @@ -327903,7 +326049,6 @@ xref: OMIM:615548 {source="MONDO:equivalentTo", source="DOID:0070149", source="O xref: Orphanet:391397 {source="MONDO:equivalentTo", source="OMIM:615548", source="DOID:0070149"} xref: UMLS:C3809882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816212"} is_a: MONDO:0015364 {source="DOID:0070149", source="OMIM:615548", source="Orphanet:391397/inferred"} ! hereditary sensory and autonomic neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10583 {source="MONDO:mim2gene_medgen"} ! SCN11A property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7" xsd:anyURI {source="GARD:0012732"} [Term] @@ -327929,8 +326074,8 @@ xref: Orphanet:124 {source="OMIM:615550"} xref: UMLS:C3809888 {source="MEDGEN:816218", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015253 {source="DC-OMIM:615550", source="DOID:0111882", source="MONDO:Redundant", source="OMIM:615550"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10306 ! RPL15 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10306 {source="MONDO:mim2gene_medgen"} ! RPL15 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10306 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10306 {source="OMIM:615550"} [Term] id: MONDO:0014246 @@ -327952,8 +326097,8 @@ xref: Orphanet:306577 {source="OMIM:615551"} xref: UMLS:C3809893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816223"} is_a: MONDO:0018319 {source="DC-OMIM:615551", source="DOID:0111730", source="MONDO:Redundant", source="OMIM:615551"} ! familial episodic pain syndrome intersection_of: MONDO:0018319 ! familial episodic pain syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10582 ! SCN10A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10582 {source="MONDO:mim2gene_medgen"} ! SCN10A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10582 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10582 {source="OMIM:615551"} [Term] id: MONDO:0014247 @@ -327978,7 +326123,6 @@ xref: Orphanet:391392 {source="MONDO:equivalentTo", source="OMIM:615552"} xref: UMLS:C3809899 {source="MEDGEN:816229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="NCIT:C125390"} ! syndromic disease is_a: MONDO:0018319 {source="DOID:0111731", source="OMIM:615552", source="Orphanet:391392"} ! familial episodic pain syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10583 {source="MONDO:mim2gene_medgen"} ! SCN11A [Term] id: MONDO:0014248 @@ -328007,7 +326151,7 @@ is_a: MONDO:0017740 {source="Orphanet:370943"} ! disorder of protein N-glycosyla is_a: MONDO:0019942 {source="Orphanet:370943"} ! distal arthrogryposis relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11023 {source="MONDO:mim2gene_medgen"} ! SLC35A3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11023 {source="OMIM:615553"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -328026,7 +326170,6 @@ xref: OMIM:615554 {source="MONDO:equivalentTo", source="Orphanet:50920", source= xref: Orphanet:50920 {source="OMIM:615554", source="MONDO:equivalentObsolete"} xref: UMLS:C3809918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816248"} is_a: MONDO:0000620 {source="Orphanet:50920"} ! breast benign neoplasm -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9446 {source="MONDO:mim2gene_medgen"} ! PRLR [Term] id: MONDO:0014250 @@ -328053,7 +326196,6 @@ xref: UMLS:C4706551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005151 {source="MONDO:0015889-obsoleted", source="MONDO:0015968-obsoleted"} ! endocrine system disorder intersection_of: MONDO:0005804 ! hyperprolactinemia intersection_of: has_characteristic MONDO:0021152 ! inherited -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9446 {source="MONDO:mim2gene_medgen"} ! PRLR [Term] id: MONDO:0014251 @@ -328068,7 +326210,6 @@ xref: Orphanet:31202 {source="OMIM:615557"} xref: UMLS:C3809925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816255"} intersection_of: MONDO:0020573 {source="OMIM:615557"} ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0017775 {source="OMIM:615557"} ! melioidosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11851 {source="MONDO:mim2gene_medgen"} ! TLR5 relationship: predisposes_towards MONDO:0017775 {source="Orphanet:31202-adjusted"} ! melioidosis [Term] @@ -328105,7 +326246,6 @@ is_a: MONDO:0017774 {source="DC-OMIM:615558", source="DOID:0111062", source="MES intersection_of: MONDO:0017774 ! hypobetalipoproteinemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/603 ! APOB relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014252 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/603 {source="MONDO:mim2gene_medgen"} ! APOB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -328155,8 +326295,8 @@ xref: Orphanet:2792 {source="OMIM:615560"} xref: UMLS:C5442121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1782278"} is_a: MONDO:0008163 {source="MONDO:Redundant", source="OMIM:615560", source="Orphanet:2792/btnt"} ! otofaciocervical syndrome intersection_of: MONDO:0008163 ! otofaciocervical syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8615 ! PAX1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8615 {source="MONDO:mim2gene_medgen"} ! PAX1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8615 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8615 {source="OMIM:615560"} [Term] id: MONDO:0014255 @@ -328169,7 +326309,6 @@ xref: NANDO:2200797 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:615561 {source="MONDO:equivalentTo"} xref: UMLS:C3809950 {source="MEDGEN:816280", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1037 {source="MONDO:mim2gene_medgen"} ! CFB [Term] id: MONDO:0014256 @@ -328191,8 +326330,8 @@ xref: OMIM:615565 {source="DOID:0110359", source="MONDO:equivalentTo"} xref: UMLS:C3809954 {source="MONDO:equivalentTo", source="MEDGEN:816284", source="MONDO:MEDGEN"} is_a: MONDO:0019200 {source="DC-OMIM:615565", source="DOID:0110359", source="MONDO:Redundant", source="OMIM:615565"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7745 ! NEK2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7745 {source="MONDO:mim2gene_medgen"} ! NEK2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7745 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7745 {source="OMIM:615565"} [Term] id: MONDO:0014257 @@ -328214,8 +326353,8 @@ is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:615573"} ! familial is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:615573"} ! nephrotic syndrome is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19041 ! COQ8B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19041 {source="MONDO:mim2gene_medgen"} ! COQ8B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19041 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19041 {source="OMIM:615573"} [Term] id: MONDO:0014258 @@ -328242,7 +326381,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditar is_a: MONDO:0005066 {source="https://orcid.org/0000-0002-1780-5230"} ! metabolic disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014258 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/753 {source="MONDO:mim2gene_medgen"} ! ASNS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/753 {source="OMIM:615574"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -328270,8 +326409,8 @@ xref: UMLS:C3888271 {source="MEDGEN:854832", source="MONDO:equivalentTo", source is_a: MONDO:0015352 {source="Orphanet:139525/btnt"} ! distal hereditary motor neuropathy type 2 is_a: MONDO:0018894 {source="DC-OMIM:615575", source="MONDO:Redundant"} ! distal hereditary motor neuropathy intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28844 ! FBXO38 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28844 {source="MONDO:mim2gene_medgen"} ! FBXO38 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28844 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28844 {source="OMIM:615575"} [Term] id: MONDO:0014260 @@ -328298,9 +326437,9 @@ xref: Orphanet:293978 {source="OMIM:615577"} xref: UMLS:C3809991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816321"} is_a: MONDO:0015517 {source="DC-OMIM:615577", source="DOID:0081152", source="MONDO:Redundant", source="OMIM:615577"} ! common variable immunodeficiency intersection_of: MONDO:0015517 ! common variable immunodeficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7795 ! NFKB2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7795 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014260 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7795 {source="MONDO:mim2gene_medgen"} ! NFKB2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7795 {source="OMIM:615577"} [Term] id: MONDO:0014261 @@ -328327,8 +326466,8 @@ xref: UMLS:C3810001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000732 {source="DC-OMIM:615578", source="DOID:0111484", source="MONDO:Redundant", source="OMIM:615578"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16088 {source="MONDO:mim2gene_medgen"} ! SFXN4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16088 {source="MONDO:mim2gene_medgen"} ! SFXN4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16088 {source="MONDO:mim2gene_medgen"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16088 {source="OMIM:615578"} [Term] id: MONDO:0014262 @@ -328352,7 +326491,6 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder is_a: MONDO:0018954 {source="DOID:0070236", source="EFO:1000012", source="OMIM:615582"} ! Loeys-Dietz syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615582"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11769 {source="MONDO:mim2gene_medgen"} ! TGFB3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12356/rienhoff-syndrome" xsd:anyURI {source="GARD:0012356"} @@ -328381,7 +326519,7 @@ is_a: MONDO:0015159 {source="Orphanet:508488"} ! multiple congenital anomalies/d is_a: MONDO:0016907 {source="Orphanet:508488"} ! partial deletion of the long arm of chromosome 8 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr8q24.3 ! 8q24.3 (Human) -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17042 {source="MONDO:mim2gene_medgen"} ! PUF60 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17042 {source="OMIM:615583"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI [Term] @@ -328422,7 +326560,6 @@ is_a: MONDO:0004975 {source="DC-OMIM:615590", source="DOID:0110050", source="MON intersection_of: MONDO:0004975 ! Alzheimer disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/188 ! ADAM10 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/188 {source="MONDO:mim2gene_medgen"} ! ADAM10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -328446,7 +326583,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o intersection_of: predisposes_towards MONDO:0005150 ! age-related macular degeneration relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: excluded_subClassOf MONDO:0005150 {source="DC-OMIM:615591", source="DOID:0110027", source="MONDO:Redundant", source="OMIM:615591", source="https://orcid.org/0000-0001-5208-3432"} ! age-related macular degeneration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1358 {source="MONDO:mim2gene_medgen"} ! C9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -328474,7 +326610,6 @@ xref: Orphanet:397787 {source="MONDO:equivalentTo", source="OMIM:615592"} xref: UMLS:C4747743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648569"} is_a: MONDO:0044201 {source="Orphanet:397787"} ! T+ B+ severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014267 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5960 {source="MONDO:mim2gene_medgen"} ! IKBKB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -328508,7 +326643,7 @@ is_a: MONDO:0021094 {source="OMIM:615593"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014268 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0015356 {source="Orphanet:431149", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:431149", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11918 {source="MONDO:mim2gene_medgen"} ! TNFRSF4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11918 {source="OMIM:615593"} [Term] id: MONDO:0014269 @@ -328532,8 +326667,8 @@ xref: Orphanet:397593 {source="MONDO:equivalentTo", source="OMIM:615595"} xref: UMLS:C3810055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816385"} is_a: MONDO:0000732 {source="DC-OMIM:615595", source="DOID:0111476", source="MONDO:Redundant", source="OMIM:615595"} ! combined oxidative phosphorylation deficiency intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21365 ! LYRM4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21365 {source="MONDO:mim2gene_medgen"} ! LYRM4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21365 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21365 {source="OMIM:615595"} [Term] id: MONDO:0014270 @@ -328567,7 +326702,6 @@ is_a: MONDO:0005500 {source="DC-OMIM:615596", source="DOID:0080572", source="OMI is_a: MONDO:0015286 {source="MONDO:0014270/inferred", source="MONDO:Redundant", source="OMIM:615596", source="Orphanet:370921/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:370921"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6172 {source="MONDO:mim2gene_medgen"} ! STT3A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -328603,7 +326737,7 @@ is_a: MONDO:0005500 {source="DC-OMIM:615597", source="DOID:0080573", source="OMI is_a: MONDO:0015286 {source="MESH:C535751", source="MONDO:0014271/inferred", source="MONDO:Redundant", source="OMIM:615597", source="Orphanet:370924/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:370924"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30611 {source="MONDO:mim2gene_medgen"} ! STT3B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30611 {source="OMIM:615597"} [Term] id: MONDO:0014272 @@ -328630,7 +326764,7 @@ is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="htt is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0017666 {source="https://orcid.org/0000-0001-5208-3432"} ! diffuse palmoplantar keratoderma relationship: excluded_subClassOf MONDO:0006588 {source="DC-OMIM:615598", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nonepidermolytic palmoplantar keratoderma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13902 {source="MONDO:mim2gene_medgen"} ! SERPINB7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13902 {source="OMIM:615598"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -328660,7 +326794,7 @@ xref: Orphanet:397951 {source="OMIM:615599", source="MONDO:equivalentTo"} xref: UMLS:C3810080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816410"} is_a: MONDO:0015159 {source="Orphanet:397951"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397951", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11536 {source="MONDO:mim2gene_medgen"} ! TAF2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11536 {source="OMIM:615599"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -328683,7 +326817,6 @@ xref: OMIM:615604 {source="MONDO:equivalentTo", source="Orphanet:440731", source xref: Orphanet:440731 {source="MONDO:equivalentTo"} xref: UMLS:C3810090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816420"} is_a: MONDO:0005570 {source="Orphanet:440731"} ! hematologic disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3999 {source="MONDO:mim2gene_medgen"} ! FTL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -328708,9 +326841,9 @@ xref: UMLS:C3810100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0007600 {source="Orphanet:3337/btnt"} ! primary Fanconi syndrome is_a: MONDO:0100238 {source="MONDO:Redundant", source="OMIM:615605"} ! inherited Fanconi renotubular syndrome intersection_of: MONDO:0100238 ! inherited Fanconi renotubular syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3247 ! EHHADH +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3247 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014275 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3247 {source="MONDO:mim2gene_medgen"} ! EHHADH +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3247 {source="OMIM:615605"} [Term] id: MONDO:0014276 @@ -328748,7 +326881,7 @@ relationship: disease_has_feature HP:0002721 ! Immunodeficiency relationship: disease_has_feature HP:0004430 ! Severe combined immunodeficiency relationship: excluded_subClassOf MONDO:0015974 {source="DOID:0060018", source="https://github.com/monarch-initiative/mondo-build/issues/108", source="https://orcid.org/0000-0001-5208-3432"} ! severe combined immunodeficiency relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:169082", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1675 {source="MONDO:mim2gene_medgen"} ! CD3G +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1675 {source="OMIM:615607"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9521/cd3-deficiency" xsd:anyURI {source="GARD:0009521"} @@ -328790,7 +326923,6 @@ is_a: MONDO:0015703 {source="Orphanet:169160/btnt", source="https://orcid.org/00 is_a: MONDO:0031520 {source="DOID:0060017", source="OMIM:615615"} ! familial severe combined immunodeficiency is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014278 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1674 {source="MONDO:mim2gene_medgen"} ! CD3E [Term] id: MONDO:0014279 @@ -328827,10 +326959,10 @@ is_a: MONDO:0015703 {source="Orphanet:169160/btnt", source="https://orcid.org/00 is_a: MONDO:0031520 {source="DOID:0060016", source="MONDO:Redundant", source="MONDO:indirect", source="OMIM:615617"} ! familial severe combined immunodeficiency is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency intersection_of: MONDO:0015974 ! severe combined immunodeficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1673 ! CD3D +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1673 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014280 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0004430 ! Severe combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1673 {source="MONDO:mim2gene_medgen"} ! CD3D +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1673 {source="OMIM:615617"} [Term] id: MONDO:0014281 @@ -328878,7 +327010,6 @@ xref: UMLS:C5882669 {source="MEDGEN:1847422", source="MONDO:equivalentTo", sourc is_a: MONDO:0015149 {source="MONDO:Redundant", source="Orphanet:401849/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! pure hereditary spastic paraplegia intersection_of: MONDO:0015149 ! pure hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17975 ! REEP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17975 {source="MONDO:mim2gene_medgen"} ! REEP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -328904,8 +327035,8 @@ xref: OMIM:615629 {source="MONDO:equivalentTo", source="DOID:0110581"} xref: UMLS:C3810170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816500"} is_a: MONDO:0019587 {source="DC-OMIM:615629", source="DOID:0110581", source="MONDO:Redundant", source="OMIM:615629"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5318 ! TNC -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5318 {source="MONDO:mim2gene_medgen"} ! TNC +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5318 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5318 {source="OMIM:615629"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -328929,7 +327060,6 @@ xref: Orphanet:140969 {source="OMIM:615630"} xref: Orphanet:474 {source="OMIM:615630"} xref: UMLS:C3810175 {source="MEDGEN:816505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018770 {source="DOID:0110091", source="OMIM:615630"} ! Jeune syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30391 {source="MONDO:mim2gene_medgen"} ! IFT172 [Term] id: MONDO:0014285 @@ -328951,7 +327081,7 @@ xref: UMLS:C3810185 {source="MEDGEN:816515", source="MONDO:equivalentTo", source is_a: MONDO:0019403 {source="MONDO:Redundant", source="OMIM:615631"} ! congenital dyserythropoietic anemia is_a: MONDO:0020337 {source="DOID:0111397", source="Orphanet:98869/btnt"} ! congenital dyserythropoietic anemia type 1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26929 {source="MONDO:mim2gene_medgen"} ! CDIN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26929 {source="OMIM:615631"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -328980,9 +327110,9 @@ xref: Orphanet:36386 {source="OMIM:615632"} xref: UMLS:C3810194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816524"} is_a: MONDO:0018213 {source="DOID:0070154", source="MONDO:Redundant", source="Orphanet:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 intersection_of: MONDO:0018213 ! hereditary sensory and autonomic neuropathy type 1 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24526 ! ATL3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24526 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014286 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24526 {source="MONDO:mim2gene_medgen"} ! ATL3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24526 {source="OMIM:615632"} [Term] id: MONDO:0014287 @@ -329003,7 +327133,7 @@ xref: Orphanet:93271 {source="OMIM:615633"} xref: UMLS:C3810200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816530"} is_a: MONDO:0018770 {source="DOID:0110095", source="OMIM:615633"} ! Jeune syndrome relationship: excluded_subClassOf MONDO:0013127 {source="Orphanet:93271/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! asphyxiating thoracic dystrophy 3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28296 {source="MONDO:mim2gene_medgen"} ! DYNC2I2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28296 {source="OMIM:615633"} [Term] id: MONDO:0014288 @@ -329028,9 +327158,9 @@ xref: UMLS:C3810212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018342 {source="Orphanet:Inferred"} ! Joubert syndrome with Jeune asphyxiating thoracic dystrophy is_a: MONDO:0018772 {source="DC-OMIM:615636", source="DOID:0110990", source="MONDO:Redundant", source="OMIM:615636"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26193 ! CSPP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26193 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014288 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26193 {source="MONDO:mim2gene_medgen"} ! CSPP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26193 {source="OMIM:615636"} [Term] id: MONDO:0014289 @@ -329057,7 +327187,7 @@ xref: Orphanet:397612 {source="MONDO:equivalentTo", source="OMIM:615637"} xref: UMLS:C3810225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816555"} is_a: MONDO:0015159 {source="Orphanet:397612"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397612", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6404 {source="MONDO:mim2gene_medgen"} ! KPTN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6404 {source="OMIM:615637"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -329089,7 +327219,6 @@ xref: UMLS:C4517377 {source="MEDGEN:1387791", source="MONDO:equivalentTo", sourc is_a: MONDO:0018307 {source="DC-OMIM:615643", source="DOID:0110740", source="MONDO:Redundant", source="OMIM:615643", source="Orphanet:397725"} ! neurodegeneration with brain iron accumulation intersection_of: MONDO:0018307 ! neurodegeneration with brain iron accumulation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29932 ! COASY -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29932 {source="MONDO:mim2gene_medgen"} ! COASY [Term] id: MONDO:0014291 @@ -329133,7 +327262,6 @@ xref: Orphanet:363540 {source="MONDO:equivalentTo", source="OMIM:615651"} xref: SCTID:768663003 {source="MONDO:equivalentTo"} xref: UMLS:C4554120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638681"} is_a: MONDO:0019046 {source="Orphanet:363540"} ! leukodystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2020 {source="MONDO:mim2gene_medgen"} ! CLCN2 [Term] id: MONDO:0014293 @@ -329219,7 +327347,6 @@ is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex h is_a: MONDO:0019064 {source="DOID:0110809", source="EFO:0009017/inferred", source="MONDO:Redundant", source="OMIM:615658", source="Orphanet:431329/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11758 ! TFG -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11758 {source="MONDO:mim2gene_medgen"} ! TFG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -329245,9 +327372,9 @@ xref: Orphanet:2510 {source="OMIM:615663"} xref: UMLS:C3810265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816595"} is_a: MONDO:0016649 {source="DC-OMIM:615663", source="DOID:0110719", source="MONDO:Redundant", source="OMIM:615663"} ! Warburg micro syndrome intersection_of: MONDO:0016649 ! Warburg micro syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16133 ! TBC1D20 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16133 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615663"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16133 {source="MONDO:mim2gene_medgen"} ! TBC1D20 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16133 {source="OMIM:615663"} [Term] id: MONDO:0014297 @@ -329269,8 +327396,8 @@ xref: Orphanet:2754 {source="OMIM:615665"} xref: UMLS:C3810278 {source="MONDO:equivalentTo", source="MEDGEN:816608", source="MONDO:MEDGEN"} is_a: MONDO:0018772 {source="DOID:0110991", source="MONDO:Redundant", source="OMIM:615665"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8788 ! PDE6D -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8788 {source="MONDO:mim2gene_medgen"} ! PDE6D +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8788 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8788 {source="OMIM:615665"} [Term] id: MONDO:0014298 @@ -329318,7 +327445,6 @@ xref: Orphanet:93921 {source="OMIM:615670"} xref: UMLS:C3810283 {source="MEDGEN:816613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008075 {source="DOID:0070481", source="OMIM:615670", source="Orphanet:93921/btnt"} ! schwannomatosis relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615670"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6742 {source="MONDO:mim2gene_medgen"} ! LZTR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -329343,7 +327469,7 @@ xref: UMLS:C3810285 {source="MEDGEN:816615", source="MONDO:equivalentTo", source is_a: MONDO:0005336 {source="DOID:0111335", source="https://orcid.org/0000-0001-5208-3432"} ! myopathy is_a: MONDO:0005395 ! movement disorder relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1530 {source="MONDO:mim2gene_medgen"} ! MICU1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1530 {source="OMIM:615673"} [Term] id: MONDO:0014301 @@ -329388,7 +327514,7 @@ xref: SCTID:765045003 {source="MONDO:equivalentTo"} xref: UMLS:C4284588 {source="MEDGEN:924879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110813", source="MONDO:Redundant", source="OMIM:615681", source="Orphanet:401785/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16947 {source="MONDO:mim2gene_medgen"} ! ERLIN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16947 {source="OMIM:615681"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI [Term] @@ -329418,7 +327544,7 @@ xref: SCTID:726609005 {source="MONDO:equivalentTo"} xref: UMLS:C3810289 {source="MONDO:equivalentTo", source="MEDGEN:816619", source="MONDO:MEDGEN"} is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110815", source="MONDO:Redundant", source="OMIM:615683", source="Orphanet:401810/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3363 {source="MONDO:mim2gene_medgen"} ! ENTPD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3363 {source="OMIM:615683"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -329449,7 +327575,7 @@ xref: SCTID:726611001 {source="MONDO:equivalentTo"} xref: UMLS:C3810294 {source="MEDGEN:816624", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110812", source="MONDO:Redundant", source="OMIM:615685", source="Orphanet:401780/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/697 {source="MONDO:mim2gene_medgen"} ! ARL6IP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/697 {source="OMIM:615685"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -329480,7 +327606,6 @@ xref: SCTID:726610000 {source="MONDO:equivalentTo"} xref: UMLS:C3810295 {source="MEDGEN:816625", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110814", source="MONDO:Redundant", source="OMIM:615686", source="Orphanet:401805/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/469 {source="MONDO:mim2gene_medgen"} ! AMPD2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -329515,7 +327640,6 @@ is_a: MONDO:0005385 {source="MONDO:Redundant", source="Orphanet:404553"} ! vascu is_a: MONDO:0018882 {source="https://orcid.org/0000-0001-5208-3432"} ! vasculitis is_a: MONDO:0021166 {source="https://orcid.org/0000-0003-4830-7530"} ! inflammatory disease is_a: MONDO:0100317 {source="https://clinicalgenome.org/affiliation/40080/"} ! deficiency of adenosine deaminase 2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1839 {source="MONDO:mim2gene_medgen"} ! ADA2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6166" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI @@ -329542,7 +327666,6 @@ is_a: MONDO:0000118 {source="MONDO:Redundant", source="OMIM:615696"} ! reticulat is_a: MONDO:0008371 {source="MONDO:Redundant", source="Orphanet:79145/btnt"} ! Dowling-Degos disease intersection_of: MONDO:0008371 ! Dowling-Degos disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22954 ! POGLUT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22954 {source="MONDO:mim2gene_medgen"} ! POGLUT1 [Term] id: MONDO:0014308 @@ -329581,7 +327704,7 @@ xref: Orphanet:397615 {source="MONDO:equivalentTo", source="OMIM:615703"} xref: UMLS:C3810324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816654"} is_a: MONDO:0011122 {source="https://orcid.org/0000-0001-5208-3432"} ! obesity disorder relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28209 {source="MONDO:mim2gene_medgen"} ! CEP19 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28209 {source="OMIM:615703"} [Term] id: MONDO:0014310 @@ -329608,7 +327731,7 @@ xref: Orphanet:221043 {source="MONDO:equivalentTo", source="OMIM:615704"} xref: UMLS:C3810325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816655"} is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:221043", source="Orphanet:221043/inferred"} ! respiratory system disorder is_a: MONDO:0016382 {source="Orphanet:221043"} ! hereditary poikiloderma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24200 {source="MONDO:mim2gene_medgen"} ! FAM111B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24200 {source="OMIM:615704"} [Term] id: MONDO:0014311 @@ -329640,8 +327763,8 @@ xref: Orphanet:404499 {source="MONDO:equivalentTo", source="OMIM:615705"} xref: UMLS:C3810326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816656"} is_a: MONDO:0018446 {source="MONDO:Redundant", source="Orphanet:404499"} ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome intersection_of: MONDO:0018446 ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28991 ! RUBCN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28991 {source="MONDO:mim2gene_medgen"} ! RUBCN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28991 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28991 {source="OMIM:615705"} [Term] id: MONDO:0014312 @@ -329659,7 +327782,6 @@ xref: OMIM:615706 {source="MONDO:equivalentTo"} xref: Orphanet:137888 {source="OMIM:615706"} xref: UMLS:C3810332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816662"} is_a: MONDO:0000107 {source="DC-OMIM:615706", source="OMIM:615706"} ! auriculocondylar syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3176 {source="MONDO:mim2gene_medgen"} ! EDN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -329686,7 +327808,7 @@ xref: UMLS:C3810342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003778 {source="DOID:0111941", source="PMID:23006327"} ! inborn error of immunity is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3619 {source="MONDO:mim2gene_medgen"} ! FCGR3A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3619 {source="OMIM:615707"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -329709,7 +327831,6 @@ xref: OMIM:615709 {source="Orphanet:397927/e", source="MONDO:equivalentTo", sour xref: Orphanet:397927 {source="MONDO:equivalentTo", source="OMIM:615709"} xref: UMLS:C3810343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816673"} is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11515 {source="MONDO:mim2gene_medgen"} ! TBXT [Term] id: MONDO:0014315 @@ -329742,7 +327863,6 @@ is_a: MONDO:0004975 {source="DC-OMIM:615711", source="DOID:0110051", source="MON intersection_of: MONDO:0004975 ! Alzheimer disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17158 ! PLD3 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17158 {source="MONDO:mim2gene_medgen"} ! PLD3 [Term] id: MONDO:0014317 @@ -329766,7 +327886,7 @@ xref: Orphanet:401764 {source="MONDO:equivalentTo", source="OMIM:615715"} xref: UMLS:C3810350 {source="MONDO:equivalentTo", source="MEDGEN:816680", source="MONDO:MEDGEN"} is_a: MONDO:0000159 {source="DC-OMIM:615715", source="OMIM:615715"} ! bone marrow failure syndrome is_a: MONDO:0001713 {source="Orphanet:401764"} ! inherited aplastic anemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26922 {source="MONDO:mim2gene_medgen"} ! ERCC6L2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26922 {source="OMIM:615715"} [Term] id: MONDO:0014318 @@ -329792,9 +327912,9 @@ xref: Orphanet:247262 {source="OMIM:615716"} xref: UMLS:C3810354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816684"} is_a: MONDO:0016596 {source="DOID:0070436", source="MONDO:Redundant", source="OMIM:615716", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23719 ! PGAP3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23719 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014318 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23719 {source="MONDO:mim2gene_medgen"} ! PGAP3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23719 {source="OMIM:615716"} [Term] id: MONDO:0014319 @@ -329814,8 +327934,8 @@ xref: Orphanet:411709 {source="OMIM:615721"} xref: UMLS:C3810359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816689"} is_a: MONDO:0018470 {source="MONDO:Redundant", source="OMIM:615721", source="Orphanet:411709/btnt"} ! renal agenesis intersection_of: MONDO:0018470 ! renal agenesis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3677 ! FGF20 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3677 {source="MONDO:mim2gene_medgen"} ! FGF20 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3677 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3677 {source="OMIM:615721"} [Term] id: MONDO:0014320 @@ -329840,7 +327960,7 @@ xref: Orphanet:401777 {source="OMIM:615722", source="MONDO:equivalentTo"} xref: UMLS:C3810363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816693"} is_a: MONDO:0000508 {source="Orphanet:401777", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014320 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7975 {source="MONDO:mim2gene_medgen"} ! NR2F1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7975 {source="OMIM:615722"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4452" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -329865,7 +327985,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0019852 {source="DC-OMIM:615723", source="OMIM:615723"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11356 ! STAG3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11356 {source="MONDO:mim2gene_medgen"} ! STAG3 [Term] id: MONDO:0014322 @@ -329887,8 +328006,8 @@ xref: UMLS:C3810376 {source="MEDGEN:816706", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:615724", source="OMIM:615724"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20193 ! HFM1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20193 {source="MONDO:mim2gene_medgen"} ! HFM1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20193 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20193 {source="OMIM:615724"} [Term] id: MONDO:0014323 @@ -329910,8 +328029,8 @@ xref: OMIM:615725 {source="MONDO:equivalentTo", source="DOID:0110374"} xref: UMLS:C3810380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816710"} is_a: MONDO:0019200 {source="DC-OMIM:615725", source="DOID:0110374", source="MONDO:Redundant", source="OMIM:615725"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29326 ! SLC7A14 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29326 {source="MONDO:mim2gene_medgen"} ! SLC7A14 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29326 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29326 {source="OMIM:615725"} [Term] id: MONDO:0014324 @@ -329932,8 +328051,8 @@ xref: Orphanet:2309 {source="OMIM:615726"} xref: UMLS:C3714948 {source="MEDGEN:811523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016471 {source="DC-OMIM:615726", source="MONDO:Redundant", source="OMIM:615726"} ! pachyonychia congenita intersection_of: MONDO:0016471 ! pachyonychia congenita -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6443 ! KRT6A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6443 {source="MONDO:mim2gene_medgen"} ! KRT6A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6443 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6443 {source="OMIM:615726"} [Term] id: MONDO:0014325 @@ -329954,8 +328073,8 @@ xref: Orphanet:2309 {source="OMIM:615728"} xref: UMLS:C3714949 {source="MEDGEN:811524", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016471 {source="DC-OMIM:615728", source="MONDO:Redundant", source="OMIM:615728"} ! pachyonychia congenita intersection_of: MONDO:0016471 ! pachyonychia congenita -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6444 ! KRT6B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6444 {source="MONDO:mim2gene_medgen"} ! KRT6B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6444 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6444 {source="OMIM:615728"} [Term] id: MONDO:0014326 @@ -329982,9 +328101,9 @@ is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy is_a: MONDO:0018958 {source="DOID:0110929", source="MONDO:Redundant", source="OMIM:615731"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16905 ! KLHL41 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16905 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014326 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16905 {source="MONDO:mim2gene_medgen"} ! KLHL41 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16905 {source="OMIM:615731"} [Term] id: MONDO:0014327 @@ -330008,7 +328127,7 @@ xref: UMLS:C3810394 {source="MEDGEN:816724", source="MONDO:equivalentTo", source is_a: MONDO:0019272 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-5493-2602"} ! hereditary palmoplantar keratoderma relationship: excluded_subClassOf MONDO:0006588 {source="DC-OMIM:615735", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nonepidermolytic palmoplantar keratoderma relationship: excluded_subClassOf MONDO:0017673 {source="Orphanet:402003", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete isolated focal palmoplantar keratoderma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20406 {source="MONDO:mim2gene_medgen"} ! KRT6C +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20406 {source="OMIM:615735"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3108" xsd:anyURI [Term] @@ -330037,7 +328156,6 @@ is_a: MONDO:0100062 {source="DOID:0080431", source="MONDO:Redundant", source="NC intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4075 ! GABRA1 relationship: excluded_subClassOf MONDO:0100135 {source="Orphanet:33069/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! Dravet syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4075 {source="MONDO:mim2gene_medgen"} ! GABRA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -330063,7 +328181,6 @@ xref: UMLS:C3810401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015281 {source="DC-OMIM:615745", source="MONDO:Redundant"} ! atrial standstill intersection_of: MONDO:0015281 ! atrial standstill intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7939 ! NPPA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7939 {source="MONDO:mim2gene_medgen"} ! NPPA [Term] id: MONDO:0014330 @@ -330095,7 +328212,7 @@ xref: SCTID:718551002 {source="MONDO:equivalentTo"} xref: UMLS:C3810403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816733"} is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder is_a: MONDO:0016820 {source="DC-OMIM:615750", source="OMIM:615750"} ! Moyamoya disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4685 {source="MONDO:mim2gene_medgen"} ! GUCY1A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4685 {source="OMIM:615750"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI @@ -330128,7 +328245,7 @@ is_a: MONDO:0004739 {source="Orphanet:401948"} ! urea cycle disorder is_a: MONDO:0019225 {source="Orphanet:401948"} ! disorder of gluconeogenesis is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014332 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1377 {source="MONDO:mim2gene_medgen"} ! CA5A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1377 {source="OMIM:615751"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -330148,7 +328265,6 @@ xref: Orphanet:268940 {source="OMIM:615752"} xref: Orphanet:98889 {source="OMIM:615752"} xref: UMLS:C3810405 {source="MEDGEN:816735", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020340 {source="Orphanet:98889/btnt"} ! bilateral perisylvian polymicrogyria -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4512 {source="MONDO:mim2gene_medgen"} ! ADGRG1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -330177,7 +328293,7 @@ xref: Orphanet:280142 {source="MONDO:equivalentTo", source="OMIM:615758"} xref: UMLS:C4014233 {source="MEDGEN:862670", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017855 {source="Orphanet:280142"} ! T-B- severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014334 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6524 {source="MONDO:mim2gene_medgen"} ! LCK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6524 {source="OMIM:615758"} [Term] id: MONDO:0014335 @@ -330203,7 +328319,7 @@ xref: UMLS:C4014239 {source="MONDO:equivalentTo", source="MEDGEN:862676", source is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0005559 {source="OMIM:615760", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014335 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9751 {source="MONDO:mim2gene_medgen"} ! QARS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9751 {source="OMIM:615760"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -330237,7 +328353,7 @@ is_a: MONDO:0015159 {source="Orphanet:404440"} ! multiple congenital anomalies/d relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404440", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070053", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25566 {source="MONDO:mim2gene_medgen"} ! SETD5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25566 {source="OMIM:615761"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -330258,8 +328374,8 @@ xref: UMLS:C3810407 {source="MEDGEN:816737", source="MONDO:equivalentTo", source is_a: MONDO:0000904 {source="DOID:0090135", source="MONDO:Redundant", source="OMIM:615763"} ! complex cortical dysplasia with other brain malformations is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12412 ! TUBB2A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12412 {source="MONDO:mim2gene_medgen"} ! TUBB2A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12412 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12412 {source="OMIM:615763"} [Term] id: MONDO:0014338 @@ -330284,7 +328400,7 @@ xref: UMLS:C5567788 {source="MEDGEN:1799211", source="MONDO:equivalentTo", sourc is_a: MONDO:0015517 {source="DC-OMIM:615767", source="DOID:0081153", source="OMIM:615767"} ! common variable immunodeficiency relationship: excluded_subClassOf MONDO:0016542 {source="Orphanet:238569/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:477661", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6005 {source="MONDO:mim2gene_medgen"} ! IL21 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6005 {source="OMIM:615767"} [Term] id: MONDO:0014339 @@ -330315,7 +328431,6 @@ xref: UMLS:C5190574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015244 {source="DOID:0080029", source="MONDO:Redundant", source="OMIM:615768", source="Orphanet:412057"} ! autosomal recessive cerebellar ataxia intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11427 ! STUB1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11427 {source="MONDO:mim2gene_medgen"} ! STUB1 [Term] id: MONDO:0014340 @@ -330336,8 +328451,8 @@ xref: Orphanet:334 {source="OMIM:615770"} xref: UMLS:C4014269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862706"} is_a: MONDO:0018054 {source="DC-OMIM:615770", source="MONDO:Redundant", source="OMIM:615770"} ! familial atrial fibrillation intersection_of: MONDO:0018054 ! familial atrial fibrillation -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8063 ! NUP155 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8063 {source="MONDO:mim2gene_medgen"} ! NUP155 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8063 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8063 {source="OMIM:615770"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -330359,7 +328474,6 @@ is_a: MONDO:0000904 {source="DOID:0090136", source="MONDO:Redundant", source="OM is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20778 ! TUBB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20778 {source="MONDO:mim2gene_medgen"} ! TUBB [Term] id: MONDO:0014342 @@ -330383,7 +328497,7 @@ xref: Orphanet:404466 {source="OMIM:615774", source="MONDO:equivalentTo"} xref: UMLS:C4014291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862728"} is_a: MONDO:0014769 {source="OMIM:615774"} ! inherited oocyte maturation defect is_a: MONDO:0021124 {source="Orphanet:404466"} ! female infertility -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13187 {source="MONDO:mim2gene_medgen"} ! ZP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13187 {source="OMIM:615774"} [Term] id: MONDO:0014343 @@ -330407,7 +328521,6 @@ xref: UMLS:C4014294 {source="MONDO:equivalentTo", source="MEDGEN:862731", source is_a: MONDO:0015426 {source="DC-OMIM:615777", source="MONDO:Redundant", source="OMIM:615777", source="Orphanet:1425/btnt"} ! Desbuquois dysplasia intersection_of: MONDO:0015426 ! Desbuquois dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15516 ! XYLT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15516 {source="MONDO:mim2gene_medgen"} ! XYLT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -330431,7 +328544,6 @@ is_a: MONDO:0020290 {source="Orphanet:98722/btnt"} ! familial atrioventricular s intersection_of: MONDO:0000119 ! congenital heart defects, multiple types intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7976 ! NR2F2 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7976 {source="MONDO:mim2gene_medgen"} ! NR2F2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -330454,9 +328566,9 @@ xref: OMIM:615780 {source="MONDO:equivalentTo", source="DOID:0110410"} xref: UMLS:C4014312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862749"} is_a: MONDO:0019200 {source="DC-OMIM:615780", source="DOID:0110410", source="MONDO:Redundant", source="OMIM:615780"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15865 ! KIZ +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15865 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15865 {source="MONDO:mim2gene_medgen"} ! KIZ +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15865 {source="OMIM:615780"} [Term] id: MONDO:0014346 @@ -330475,7 +328587,7 @@ xref: OMIM:615785 {source="MONDO:equivalentTo"} xref: Orphanet:171723 {source="OMIM:615785"} xref: UMLS:C4014321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862758"} is_a: MONDO:0015748 {source="DC-OMIM:615785", source="DOID:0081288", source="OMIM:615785"} ! hereditary mucosal leukokeratosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6415 {source="MONDO:mim2gene_medgen"} ! KRT13 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6415 {source="OMIM:615785"} [Term] id: MONDO:0014347 @@ -330491,7 +328603,7 @@ xref: UMLS:C4014339 {source="MEDGEN:862776", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0010002 {source="OMIM:615789", source="https://orcid.org/0000-0002-4142-7153"} ! Rothmund-Thomson syndrome is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14312 {source="MONDO:mim2gene_medgen"} ! CRIPT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14312 {source="OMIM:615789"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -330516,8 +328628,8 @@ xref: OMIM:615802 {source="MONDO:equivalentTo"} xref: UMLS:C4014343 {source="MEDGEN:862780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DC-OMIM:615802", source="MONDO:Redundant", source="OMIM:615802"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25712 ! PGAP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25712 {source="MONDO:mim2gene_medgen"} ! PGAP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25712 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25712 {source="OMIM:615802"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -330545,8 +328657,8 @@ xref: Orphanet:411493 {source="DOID:0060279", source="MONDO:equivalentTo", sourc xref: UMLS:C5190575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676575"} is_a: MONDO:0020135 {source="DC-OMIM:615803", source="DOID:0060279", source="MONDO:Redundant", source="OMIM:615803", source="Orphanet:411493"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16999 ! CLP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16999 {source="MONDO:mim2gene_medgen"} ! CLP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16999 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16999 {source="OMIM:615803"} [Term] id: MONDO:0014350 @@ -330571,7 +328683,6 @@ is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender b intersection_of: MONDO:0019342 ! Seckel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2939 ! DNA2 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615807"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2939 {source="MONDO:mim2gene_medgen"} ! DNA2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -330599,7 +328710,6 @@ xref: UMLS:C4014354 {source="MEDGEN:862791", source="MONDO:equivalentTo", source is_a: MONDO:0020135 {source="DC-OMIM:615809", source="DOID:0060278", source="MONDO:Redundant", source="OMIM:615809", source="Orphanet:369920"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/469 ! AMPD2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/469 {source="MONDO:mim2gene_medgen"} ! AMPD2 [Term] id: MONDO:0014352 @@ -330620,8 +328730,8 @@ xref: UMLS:C4014361 {source="MEDGEN:862798", source="MONDO:equivalentTo", source is_a: MONDO:0000816 {source="DC-OMIM:615812", source="DOID:0060612", source="MONDO:Redundant", source="OMIM:615812"} ! abdominal obesity-metabolic syndrome is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease intersection_of: MONDO:0000816 ! abdominal obesity-metabolic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3092 ! DYRK1B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3092 {source="MONDO:mim2gene_medgen"} ! DYRK1B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3092 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3092 {source="OMIM:615812"} [Term] id: MONDO:0014353 @@ -330656,7 +328766,7 @@ xref: UMLS:C4014371 {source="MEDGEN:862808", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="OMIM:615816"} ! hereditary disease is_a: MONDO:0017749 {source="Orphanet:443811"} ! disorder of multiple glycosylation is_a: MONDO:0021094 {source="OMIM:615816"} ! immunodeficiency disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8907 {source="MONDO:mim2gene_medgen"} ! PGM3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8907 {source="OMIM:615816"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3799" xsd:anyURI [Term] @@ -330681,8 +328791,8 @@ xref: OMIM:615817 {source="MONDO:equivalentTo"} xref: UMLS:C4014386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862823"} is_a: MONDO:0019502 {source="DC-OMIM:615817", source="DOID:0081207", source="MONDO:Redundant", source="OMIM:615817"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29174 ! WASHC4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29174 {source="MONDO:mim2gene_medgen"} ! WASHC4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29174 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29174 {source="OMIM:615817"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -330709,7 +328819,6 @@ is_a: MONDO:0019270 {source="Orphanet:476096"} ! erythrokeratoderma relationship: disease_has_major_feature HP:0001644 {source="Orphanet:476096"} ! Dilated cardiomyopathy relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:476096", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy relationship: excluded_subClassOf MONDO:0019183 {source="Orphanet:476096", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited odontologic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 {source="MONDO:mim2gene_medgen"} ! DSP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7435" xsd:anyURI @@ -330735,8 +328844,8 @@ is_a: MONDO:0000066 {source="DC-OMIM:615824", source="MONDO:indirect"} ! mitocho is_a: MONDO:0015448 {source="DOID:0080116", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="OMIM:615824", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21237 ! UQCC2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21237 {source="MONDO:mim2gene_medgen"} ! UQCC2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21237 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21237 {source="OMIM:615824"} [Term] id: MONDO:0014357 @@ -330764,7 +328873,6 @@ is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:615828"} ! intellect intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14677 ! DEAF1 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14677 {source="MONDO:mim2gene_medgen"} ! DEAF1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -330795,7 +328903,7 @@ is_a: MONDO:0000508 {source="Orphanet:412069", source="https://clinicalgenome.or relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014358 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070055", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25230 {source="MONDO:mim2gene_medgen"} ! AHDC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25230 {source="OMIM:615829"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -330822,7 +328930,6 @@ xref: UMLS:C4014425 {source="MEDGEN:862862", source="MONDO:equivalentTo", source is_a: MONDO:0015999 {source="DC-OMIM:615830", source="MONDO:Redundant", source="OMIM:615830"} ! primary pigmented nodular adrenocortical disease intersection_of: MONDO:0015999 ! primary pigmented nodular adrenocortical disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9380 ! PRKACA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9380 {source="MONDO:mim2gene_medgen"} ! PRKACA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -330847,8 +328954,8 @@ xref: UMLS:C4014430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:615833", source="MONDO:Redundant", source="OMIM:615833"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24539 ! NECAP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24539 {source="MONDO:mim2gene_medgen"} ! NECAP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24539 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24539 {source="OMIM:615833"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -330883,7 +328990,7 @@ is_a: MONDO:0100172 {source="OMIM:615834"} ! intellectual disability, autosomal relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070056", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14262 {source="MONDO:mim2gene_medgen"} ! AUTS2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14262 {source="OMIM:615834"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -330925,8 +329032,8 @@ xref: Orphanet:90636 {source="OMIM:615837"} xref: UMLS:C3892049 {source="MEDGEN:856148", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:615837", source="DOID:0110462", source="MONDO:Redundant", source="OMIM:615837"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33862 ! GRXCR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33862 {source="MONDO:mim2gene_medgen"} ! GRXCR2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33862 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33862 {source="OMIM:615837"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -330952,8 +329059,8 @@ is_a: MONDO:0000066 {source="DC-OMIM:615838", source="MONDO:indirect"} ! mitocho is_a: MONDO:0015448 {source="DOID:0080117", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="OMIM:615838", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28072 ! LYRM7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28072 {source="MONDO:mim2gene_medgen"} ! LYRM7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28072 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28072 {source="OMIM:615838"} [Term] id: MONDO:0014365 @@ -330976,9 +329083,9 @@ xref: UMLS:C4014449 {source="MEDGEN:862886", source="MONDO:equivalentTo", source is_a: MONDO:0004983 {source="DC-OMIM:615841", source="DOID:0070182", source="MONDO:Redundant", source="OMIM:615841"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11538 ! TAF4B -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11538 ! TAF4B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11538 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11538 {source="MONDO:mim2gene_medgen"} ! TAF4B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11538 {source="MONDO:mim2gene_medgen"} ! TAF4B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11538 {source="OMIM:615841"} [Term] id: MONDO:0014366 @@ -331001,9 +329108,9 @@ xref: UMLS:C4014454 {source="MEDGEN:862891", source="MONDO:equivalentTo", source is_a: MONDO:0004983 {source="DC-OMIM:615842", source="DOID:0070179", source="MONDO:Redundant", source="OMIM:615842"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20997 ! ZMYND15 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20997 ! ZMYND15 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20997 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20997 {source="MONDO:mim2gene_medgen"} ! ZMYND15 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20997 {source="MONDO:mim2gene_medgen"} ! ZMYND15 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20997 {source="OMIM:615842"} [Term] id: MONDO:0014367 @@ -331028,7 +329135,6 @@ is_a: MONDO:0018866 {source="DC-OMIM:615846", source="MONDO:Redundant", source=" is_a: MONDO:0700262 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! IFIH1-related type 1 interferonopathy intersection_of: MONDO:0018866 ! Aicardi-Goutieres syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18873 ! IFIH1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18873 {source="MONDO:mim2gene_medgen"} ! IFIH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI [Term] @@ -331057,7 +329163,6 @@ is_a: MONDO:0020573 {source="OMIM:615848"} ! inherited disease susceptibility is_a: MONDO:0024462 {source="OMIM:615848"} ! susceptibility to familial cutaneous melanoma relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial melanoma relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:615848", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17284 {source="MONDO:mim2gene_medgen"} ! POT1 relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6714" xsd:anyURI @@ -331088,7 +329193,6 @@ is_a: MONDO:0002254 {source="DOID:0080328"} ! syndromic disease is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency is_a: MONDO:0019054 ! congenital limb malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4318 {source="MONDO:mim2gene_medgen"} ! GLI2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI [Term] @@ -331111,8 +329215,8 @@ xref: Orphanet:247198 {source="OMIM:615851"} xref: UMLS:C4014488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862925"} is_a: MONDO:0020135 {source="DC-OMIM:615851", source="DOID:0060271", source="MONDO:Redundant", source="OMIM:615851"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25608 ! VPS53 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25608 {source="MONDO:mim2gene_medgen"} ! VPS53 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25608 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25608 {source="OMIM:615851"} [Term] id: MONDO:0014371 @@ -331142,7 +329246,7 @@ is_a: MONDO:0015653 {source="Orphanet:411986"} ! monogenic epilepsy is_a: MONDO:0100062 {source="DC-OMIM:615859", source="DOID:0080415", source="OMIM:615859"} ! developmental and epileptic encephalopathy relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:411986", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19190 {source="MONDO:mim2gene_medgen"} ! DOCK7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19190 {source="OMIM:615859"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI @@ -331166,8 +329270,8 @@ xref: OMIM:615860 {source="MONDO:equivalentTo", source="DOID:0111025"} xref: UMLS:C4014501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862938"} is_a: MONDO:0015993 {source="DC-OMIM:615860", source="DOID:0111025", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:615860"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19963 ! TTLL5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19963 {source="MONDO:mim2gene_medgen"} ! TTLL5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19963 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19963 {source="OMIM:615860"} [Term] id: MONDO:0014373 @@ -331189,8 +329293,8 @@ is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:615861"} ! familial is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:615861"} ! nephrotic syndrome is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3334 ! EMP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3334 {source="MONDO:mim2gene_medgen"} ! EMP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3334 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3334 {source="OMIM:615861"} [Term] id: MONDO:0014374 @@ -331211,9 +329315,9 @@ xref: Orphanet:655 {source="OMIM:615862"} xref: UMLS:C3890591 {source="MEDGEN:855697", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019005 {source="DC-OMIM:615862", source="DOID:0111125", source="MONDO:Redundant", source="OMIM:615862"} ! nephronophthisis intersection_of: MONDO:0019005 ! nephronophthisis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17966 ! CEP83 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17966 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615862"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17966 {source="MONDO:mim2gene_medgen"} ! CEP83 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17966 {source="OMIM:615862"} [Term] id: MONDO:0014375 @@ -331250,9 +329354,9 @@ xref: UMLS:C4014516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000824 {source="DC-OMIM:615863", source="DOID:0060778", source="MONDO:Redundant", source="OMIM:615863"} ! congenital diarrhea is_a: MONDO:0005020 {source="Orphanet:329242", source="Orphanet:329242/inferred"} ! intestinal disorder intersection_of: MONDO:0000824 ! congenital diarrhea -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2843 ! DGAT1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2843 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2843 {source="MONDO:mim2gene_medgen"} ! DGAT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2843 {source="OMIM:615863"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -331281,7 +329385,7 @@ xref: UMLS:C4014528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015452 {source="DOID:0070057", source="OMIM:615866", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070057", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11191 {source="MONDO:mim2gene_medgen"} ! SOX11 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11191 {source="OMIM:615866"} [Term] id: MONDO:0014377 @@ -331306,7 +329410,6 @@ is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset e is_a: MONDO:0100062 {source="DC-OMIM:615871", source="MONDO:Redundant", source="OMIM:615871"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4845 ! HCN1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4845 {source="MONDO:mim2gene_medgen"} ! HCN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -331335,9 +329438,9 @@ xref: Orphanet:244 {source="OMIM:615872"} xref: UMLS:C4014534 {source="MEDGEN:862971", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:615872", source="DOID:0110600", source="MONDO:Redundant", source="OMIM:615872"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18576 ! CCNO +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18576 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014378 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18576 {source="MONDO:mim2gene_medgen"} ! CCNO +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18576 {source="OMIM:615872"} [Term] id: MONDO:0014379 @@ -331374,7 +329477,7 @@ is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404448", source= is_a: MONDO:0015159 {source="Orphanet:404448"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014379 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15766 {source="MONDO:mim2gene_medgen"} ! ADNP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15766 {source="OMIM:615873"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -331404,7 +329507,7 @@ xref: Orphanet:424099 {source="MONDO:equivalentTo"} xref: UMLS:C4014540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862977"} is_a: MONDO:0016073 {source="DC-OMIM:615877", source="DOID:0111802", source="OMIM:615877", source="Orphanet:424099"} ! syndromic microphthalmia is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6758 {source="MONDO:mim2gene_medgen"} ! MAB21L2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6758 {source="OMIM:615877"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI [Term] @@ -331437,7 +329540,6 @@ xref: UMLS:C2931067 {source="MEDGEN:418976", source="MONDO:equivalentTo", source is_a: MONDO:0015762 {source="DOID:0070224", source="MONDO:Redundant", source="OMIM:615878", source="Orphanet:172/btnt", source="Orphanet:480483"} ! progressive familial intrahepatic cholestasis intersection_of: MONDO:0015762 ! progressive familial intrahepatic cholestasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11828 ! TJP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11828 {source="MONDO:mim2gene_medgen"} ! TJP2 [Term] id: MONDO:0014382 @@ -331469,7 +329571,6 @@ is_a: MONDO:0015159 {source="Orphanet:404443"} ! multiple congenital anomalies/d is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014382 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404443", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2978 {source="MONDO:mim2gene_medgen"} ! DNMT3A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6263" xsd:anyURI @@ -331495,7 +329596,6 @@ xref: UMLS:C4014557 {source="MEDGEN:862994", source="MONDO:equivalentTo", source is_a: MONDO:0008051 {source="MONDO:Redundant", source="OMIM:615883", source="Orphanet:2593/btnt"} ! tubular aggregate myopathy intersection_of: MONDO:0008051 ! tubular aggregate myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25896 ! ORAI1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25896 {source="MONDO:mim2gene_medgen"} ! ORAI1 [Term] id: MONDO:0014384 @@ -331519,8 +329619,8 @@ xref: UMLS:C4014563 {source="MEDGEN:863000", source="MONDO:equivalentTo", source is_a: MONDO:0003037 {source="DOID:0110709", source="MONDO:Redundant", source="OMIM:615885"} ! hypotrichosis is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10313 ! RPL21 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10313 {source="MONDO:mim2gene_medgen"} ! RPL21 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10313 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10313 {source="OMIM:615885"} [Term] id: MONDO:0014385 @@ -331547,7 +329647,6 @@ is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta ty is_a: MONDO:0019507 {source="DOID:0110063", source="MONDO:Redundant", source="OMIM:615887"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10978 ! SLC24A4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10978 {source="MONDO:mim2gene_medgen"} ! SLC24A4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -331578,9 +329677,9 @@ xref: UMLS:C4014584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000009 {source="DC-OMIM:615888", source="DOID:0111051", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:615888"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9879 ! RASGRP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9879 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014386 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9879 {source="MONDO:mim2gene_medgen"} ! RASGRP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9879 {source="OMIM:615888"} [Term] id: MONDO:0014387 @@ -331599,7 +329698,6 @@ xref: UMLS:C4014588 {source="MEDGEN:863025", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder is_a: MONDO:0800448 {source="https://orcid.org/0000-0002-4142-7153"} ! leukoencephalopathy with vanishing white matter -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21022 {source="MONDO:mim2gene_medgen"} ! AARS2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -331654,7 +329752,7 @@ is_a: MONDO:0002412 {source="Orphanet:397937", source="PMID:33340416"} ! disorde is_a: MONDO:0003847 {source="OMIM:615895"} ! hereditary disease relationship: excluded_subClassOf MONDO:0016334 {source="Orphanet:397937", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuromuscular disease with dilated cardiomyopathy relationship: excluded_subClassOf MONDO:0019058 {source="Orphanet:397937", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neurometabolic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15864 {source="MONDO:mim2gene_medgen"} ! RBCK1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15864 {source="OMIM:615895"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2668" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -331682,8 +329780,8 @@ xref: UMLS:C4014616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003037 {source="DC-OMIM:615896", source="DOID:0110710", source="MONDO:Redundant", source="OMIM:615896"} ! hypotrichosis is_a: MONDO:0008686 {source="Orphanet:170/btnt"} ! isolated familial wooly hair disorder intersection_of: MONDO:0003037 ! hypotrichosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28927 ! KRT71 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28927 {source="MONDO:mim2gene_medgen"} ! KRT71 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28927 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28927 {source="OMIM:615896"} [Term] id: MONDO:0014391 @@ -331708,7 +329806,7 @@ xref: Orphanet:420573 {source="OMIM:615897", source="MONDO:equivalentTo"} xref: SCTID:763623001 {source="MONDO:equivalentTo"} xref: UMLS:C4014617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863054"} is_a: MONDO:0044201 {source="Orphanet:420573"} ! T+ B+ severe combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2519 {source="MONDO:mim2gene_medgen"} ! CTPS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2519 {source="OMIM:615897"} [Term] id: MONDO:0014392 @@ -331738,8 +329836,8 @@ xref: UMLS:C4014621 {source="MEDGEN:863058", source="MONDO:equivalentTo", source is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:615905", source="MONDO:Redundant", source="OMIM:615905"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23089 ! SLC13A5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23089 {source="MONDO:mim2gene_medgen"} ! SLC13A5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23089 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23089 {source="OMIM:615905"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12901/early-infantile-epileptic-encephalopathy-25" xsd:anyURI {source="GARD:0012901"} @@ -331762,7 +329860,7 @@ xref: OMIM:615907 {source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="OMIM:615907"} xref: UMLS:C4747769 {source="MEDGEN:1651756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019313 {source="DOID:0070209", source="MONDO:Redundant", source="OMIM:615907", source="Orphanet:79452/btnt"} ! lymphatic malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12682 {source="MONDO:mim2gene_medgen"} ! VEGFC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12682 {source="OMIM:615907"} [Term] id: MONDO:0014394 @@ -331787,8 +329885,8 @@ xref: Orphanet:124 {source="OMIM:615909"} xref: UMLS:C4014641 {source="MEDGEN:863078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015253 {source="DC-OMIM:615909", source="DOID:0111889", source="MONDO:Redundant", source="OMIM:615909"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10419 ! RPS29 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10419 {source="MONDO:mim2gene_medgen"} ! RPS29 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10419 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10419 {source="OMIM:615909"} [Term] id: MONDO:0014395 @@ -331811,7 +329909,6 @@ is_a: MONDO:0005144 {source="OMIM:615911"} ! familial amyotrophic lateral sclero is_a: MONDO:0017161 {source="OMIM:615911", source="Orphanet:275872/btnt", source="https://orcid.org/0000-0002-6601-2165"} ! frontotemporal dementia with motor neuron disease is_a: MONDO:0030923 {source="OMIM:615911"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014395 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15559 {source="MONDO:mim2gene_medgen"} ! CHCHD10 [Term] id: MONDO:0014396 @@ -331833,7 +329930,6 @@ xref: MEDGEN:863093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615916 {source="MONDO:equivalentTo", source="DOID:0110432"} xref: UMLS:C4014656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863093"} is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:615916"} ! familial dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9829 {source="MONDO:mim2gene_medgen"} ! RAF1 [Term] id: MONDO:0014397 @@ -331860,8 +329956,8 @@ xref: UMLS:C4014660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000732 {source="DC-OMIM:615917", source="DOID:0111478", source="MONDO:Redundant", source="OMIM:615917"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21642 ! VARS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21642 {source="MONDO:mim2gene_medgen"} ! VARS2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21642 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21642 {source="OMIM:615917"} [Term] id: MONDO:0014398 @@ -331888,8 +329984,8 @@ xref: UMLS:C4706316 {source="MEDGEN:1638633", source="MONDO:equivalentTo", sourc is_a: MONDO:0000732 {source="DC-OMIM:615918", source="DOID:0111465", source="MONDO:Redundant", source="OMIM:615918"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30740 ! TARS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30740 {source="MONDO:mim2gene_medgen"} ! TARS2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30740 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30740 {source="OMIM:615918"} [Term] id: MONDO:0014399 @@ -331913,11 +330009,11 @@ xref: UMLS:C4014676 {source="MEDGEN:863113", source="MONDO:equivalentTo", source is_a: MONDO:0011457 {source="DC-OMIM:615919", source="OMIM:615919"} ! ataxia-telangiectasia-like disorder is_a: MONDO:0021190 {source="PMID:16961074", source="PMID:33718381", source="https://rarediseases.org/rare-diseases/bloom-syndrome/"} ! DNA repair disease intersection_of: MONDO:0011457 ! ataxia-telangiectasia-like disorder -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8729 ! PCNA +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8729 relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:438134", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:438134", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome relationship: excluded_subClassOf MONDO:0019303 {source="Orphanet:438134", source="https://orcid.org/0000-0001-5208-3432"} ! premature aging syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8729 {source="MONDO:mim2gene_medgen"} ! PCNA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8729 {source="OMIM:615919"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -331941,8 +330037,8 @@ xref: OMIM:615922 {source="DOID:0110392", source="MONDO:equivalentTo"} xref: UMLS:C4014681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863118"} is_a: MONDO:0019200 {source="DC-OMIM:615922", source="DOID:0110392", source="MONDO:Redundant", source="OMIM:615922"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17349 ! PRPF4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17349 {source="MONDO:mim2gene_medgen"} ! PRPF4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17349 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17349 {source="OMIM:615922"} [Term] id: MONDO:0014401 @@ -331967,7 +330063,6 @@ xref: UMLS:C4014690 {source="MONDO:equivalentTo", source="MEDGEN:863127", source is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0018230 {source="PMID:24259409", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7944 {source="MONDO:mim2gene_medgen"} ! NPR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -331993,7 +330088,6 @@ xref: UMLS:C4014700 {source="MEDGEN:863137", source="MONDO:equivalentTo", source is_a: MONDO:0020087 {source="Orphanet:363400"} ! hereditary lipodystrophy is_a: MONDO:0024237 {source="Orphanet:363400"} ! inherited neurodegenerative disorder is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15832 {source="MONDO:mim2gene_medgen"} ! BSCL2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI [Term] @@ -332018,6 +330112,7 @@ xref: Orphanet:314811 {source="MONDO:equivalentTo", source="OMIM:615925"} xref: SCTID:766817004 {source="MONDO:equivalentTo"} xref: UMLS:C4707848 {source="MEDGEN:1633096", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019824 {source="Orphanet:314811"} ! non-acquired pituitary hormone deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4267 {source="OMIM:615925"} [Term] id: MONDO:0014404 @@ -332033,7 +330128,7 @@ xref: OMIM:615926 {source="MONDO:equivalentTo"} xref: Orphanet:370006 {source="MONDO:equivalentObsolete", source="OMIM:615926"} xref: UMLS:C4014708 {source="MEDGEN:863145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="Orphanet:370006/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16876 {source="MONDO:mim2gene_medgen"} ! ARNT2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16876 {source="OMIM:615926"} [Term] id: MONDO:0014405 @@ -332060,7 +330155,7 @@ is_a: MONDO:0005385 {source="MONDO:Redundant", source="Orphanet:425120"} ! vascu is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome is_a: MONDO:0021166 {source="https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163"} ! inflammatory disease is_a: MONDO:0957408 {source="Orphanet:425120", source="PMID:37161741"} ! type 1 interferonopathy of childhood -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27962 {source="MONDO:mim2gene_medgen"} ! STING1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27962 {source="OMIM:615934"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy" xsd:anyURI {source="GARD:0012357"} @@ -332086,7 +330181,6 @@ xref: UMLS:C4014737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0009832 {source="MONDO:Redundant", source="OMIM:615935", source="Orphanet:2805/btnt"} ! pancreatic agenesis intersection_of: MONDO:0009832 ! pancreatic agenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23734 ! PTF1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23734 {source="MONDO:mim2gene_medgen"} ! PTF1A [Term] id: MONDO:0014407 @@ -332109,9 +330203,9 @@ xref: UMLS:C4014738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019375 {source="DC-OMIM:615937", source="MONDO:Redundant", source="OMIM:615937"} ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is_a: MONDO:0800485 {source="https://clinicalgenome.org/affiliation/50020/"} ! AKT3-related overgrowth spectrum intersection_of: MONDO:0019375 ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/393 ! AKT3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/393 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/393 {source="MONDO:mim2gene_medgen"} ! AKT3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/393 {source="OMIM:615937"} [Term] id: MONDO:0014408 @@ -332133,8 +330227,8 @@ xref: Orphanet:83473 {source="OMIM:615938"} xref: UMLS:C4014742 {source="MEDGEN:863179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019375 {source="DC-OMIM:615938", source="MONDO:Redundant", source="OMIM:615938"} ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome intersection_of: MONDO:0019375 ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1583 ! CCND2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1583 {source="MONDO:mim2gene_medgen"} ! CCND2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1583 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1583 {source="OMIM:615938"} [Term] id: MONDO:0014409 @@ -332157,8 +330251,8 @@ xref: OMIM:615942 {source="MONDO:equivalentTo"} xref: UMLS:C4014745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863182"} is_a: MONDO:0019502 {source="DC-OMIM:615942", source="DOID:0081208", source="MONDO:Redundant", source="OMIM:615942"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26988 ! METTL23 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26988 {source="MONDO:mim2gene_medgen"} ! METTL23 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26988 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26988 {source="OMIM:615942"} [Term] id: MONDO:0014410 @@ -332182,7 +330276,7 @@ xref: Orphanet:363710 {source="MONDO:equivalentTo", source="OMIM:615945"} xref: SCTID:719301002 {source="MONDO:equivalentTo"} xref: UMLS:C3889636 {source="MEDGEN:855217", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019792 {source="Orphanet:363710"} ! autosomal dominant cerebellar ataxia type I -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2661 {source="MONDO:mim2gene_medgen"} ! DAB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2661 {source="OMIM:615945"} [Term] id: MONDO:0014411 @@ -332194,7 +330288,7 @@ xref: OMIM:615946 {source="MONDO:equivalentTo"} xref: UMLS:C4014762 {source="MEDGEN:863199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001384 {source="DC-OMIM:615946", source="OMIM:615946"} ! myopia is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20502 {source="MONDO:mim2gene_medgen"} ! SLC39A5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20502 {source="OMIM:615946"} [Term] id: MONDO:0014412 @@ -332220,9 +330314,9 @@ is_a: MONDO:0001336 {source="DC-OMIM:615947", source="MONDO:indirect"} ! familia is_a: MONDO:0006025 {source="DOID:0111420"} ! autosomal recessive disease is_a: MONDO:0018637 {source="DOID:0111420", source="Orphanet:444490/btnt", source="Orphanet:535458"} ! familial chylomicronemia syndrome intersection_of: MONDO:0001336 ! familial hyperlipidemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24945 ! GPIHBP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24945 relationship: has_characteristic HP:0000007 {source="Orphanet:535458"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24945 {source="MONDO:mim2gene_medgen", source="Orphanet:535458"} ! GPIHBP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24945 {source="OMIM:615947"} [Term] id: MONDO:0014413 @@ -332256,10 +330350,10 @@ is_a: MONDO:0015159 {source="Orphanet:434179"} ! multiple congenital anomalies/d is_a: MONDO:0015375 {source="DC-OMIM:615948", source="DOID:0060958", source="MONDO:Redundant", source="OMIM:615948", source="Orphanet:434179"} ! orofaciodigital syndrome is_a: MONDO:0021147 ! disorder of development or morphogenesis intersection_of: MONDO:0015375 ! orofaciodigital syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24564 ! C2CD3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24564 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014413 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:434179", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24564 {source="MONDO:mim2gene_medgen"} ! C2CD3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24564 {source="OMIM:615948"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -332288,7 +330382,6 @@ relationship: disease_has_basis_in_disruption_of GO:0019221 {source="PMID:250387 relationship: excluded_subClassOf MONDO:0016537 {source="Orphanet:438159", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoproliferative syndrome relationship: excluded_subClassOf MONDO:0019098 {source="Orphanet:438159", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune thrombocytopenia relationship: excluded_subClassOf MONDO:0020108 {source="Orphanet:438159", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune hemolytic anemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11364 {source="MONDO:mim2gene_medgen"} ! STAT3 [Term] id: MONDO:0014415 @@ -332300,7 +330393,7 @@ xref: MESH:C563653 {source="MONDO:equivalentTo"} xref: OMIM:615953 {source="MONDO:equivalentTo"} xref: UMLS:C1835808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322759"} is_a: MONDO:0003847 {source="MESH:C563653/inferred"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6357 {source="MONDO:mim2gene_medgen"} ! KLK1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6357 {source="OMIM:615953"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -332325,8 +330418,8 @@ xref: Orphanet:189427 {source="OMIM:615954"} xref: UMLS:C4014803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863240"} is_a: MONDO:0009049 {source="DOID:0111624", source="MONDO:Redundant", source="Orphanet:189427/btnt"} ! Cushing syndrome due to macronodular adrenal hyperplasia intersection_of: MONDO:0009049 ! Cushing syndrome due to macronodular adrenal hyperplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25781 ! ARMC5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25781 {source="MONDO:mim2gene_medgen"} ! ARMC5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25781 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25781 {source="OMIM:615954"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -332351,7 +330444,7 @@ xref: SCTID:734021001 {source="MONDO:equivalentTo"} xref: UMLS:C4518337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1379865"} is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0019793 {source="EFO:0009056", source="Orphanet:423296"} ! autosomal dominant cerebellar ataxia type III -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21308 {source="MONDO:mim2gene_medgen"} ! ELOVL5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21308 {source="OMIM:615957"} [Term] id: MONDO:0014418 @@ -332376,9 +330469,9 @@ xref: UMLS:C4014814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015705 {source="DOID:0111222", source="MONDO:Redundant", source="Orphanet:169186/btnt"} ! autosomal recessive centronuclear myopathy is_a: MONDO:0018947 {source="MONDO:Redundant", source="OMIM:615959"} ! centronuclear myopathy intersection_of: MONDO:0015705 ! autosomal recessive centronuclear myopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16901 ! SPEG +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16901 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014418 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16901 {source="MONDO:mim2gene_medgen"} ! SPEG +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16901 {source="OMIM:615959"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -332405,7 +330498,7 @@ is_a: MONDO:0020022 ! central nervous system malformation is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:370022", source="Orphanet:370022/inferred"} ! disorder of development or morphogenesis relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:370022", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6481 {source="MONDO:mim2gene_medgen"} ! LAMA1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6481 {source="OMIM:615960"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -332430,7 +330523,7 @@ xref: Orphanet:140941 {source="OMIM:615961", source="MONDO:equivalentTo"} xref: SCTID:721074002 {source="MONDO:equivalentTo"} xref: UMLS:C3900122 {source="MEDGEN:859716", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015892 {source="Orphanet:140941"} ! growth hormone insensitivity syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5468 {source="MONDO:mim2gene_medgen"} ! IGFALS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5468 {source="OMIM:615961"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -332461,7 +330554,7 @@ xref: OMIM:615962 {source="Orphanet:786", source="MONDO:equivalentTo", source="O xref: Orphanet:786 {source="OMIM:615962", source="MONDO:equivalentTo"} xref: UMLS:C1841972 {source="MEDGEN:333960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015898 {source="Orphanet:786"} ! adrenogenital syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7978 {source="MONDO:mim2gene_medgen"} ! NR3C1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7978 {source="OMIM:615962"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2499/glucocorticoid-resistance" xsd:anyURI {source="GARD:0002499"} @@ -332485,7 +330578,6 @@ xref: UMLS:C4014831 {source="MEDGEN:863268", source="MONDO:equivalentTo", source is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:615963", source="Orphanet:289365/btnt"} ! familial vesicoureteral reflux intersection_of: MONDO:0017329 ! familial vesicoureteral reflux intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11976 ! TNXB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11976 {source="MONDO:mim2gene_medgen"} ! TNXB [Term] id: MONDO:0014423 @@ -332512,7 +330604,7 @@ xref: SCTID:716871006 {source="MONDO:equivalentTo"} xref: UMLS:C4014833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863270"} is_a: MONDO:0017855 {source="Orphanet:317425", source="PMID:31953710"} ! T-B- severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014423 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9413 {source="MONDO:mim2gene_medgen"} ! PRKDC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9413 {source="OMIM:615966"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -332570,8 +330662,8 @@ xref: UMLS:C4014848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005514 {source="DC-OMIM:615972", source="MONDO:Redundant", source="OMIM:615972"} ! nanophthalmia is_a: MONDO:0021129 {source="MONDO:Redundant", source="OMIM:615972", source="Orphanet:35612/btnt"} ! microphthalmia intersection_of: MONDO:0005514 ! nanophthalmia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24529 ! TMEM98 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24529 {source="MONDO:mim2gene_medgen"} ! TMEM98 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24529 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24529 {source="OMIM:615972"} [Term] id: MONDO:0014427 @@ -332592,8 +330684,8 @@ xref: OMIM:615973 {source="MONDO:equivalentTo", source="DOID:0111026"} xref: UMLS:C4014856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863293"} is_a: MONDO:0015993 {source="DC-OMIM:615973", source="DOID:0111026", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:615973"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30836 ! POC1B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30836 {source="MONDO:mim2gene_medgen"} ! POC1B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30836 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30836 {source="OMIM:615973"} [Term] id: MONDO:0014428 @@ -332621,9 +330713,9 @@ xref: OMIM:615974 {source="MONDO:equivalentTo", source="DOID:0110463"} xref: UMLS:C3892050 {source="MEDGEN:856149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:615974", source="DOID:0110463", source="MONDO:Redundant", source="OMIM:615974"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3420 ! EPS8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3420 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014428 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3420 {source="MONDO:mim2gene_medgen"} ! EPS8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3420 {source="OMIM:615974"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -332654,7 +330746,6 @@ xref: OMIM:615978 {source="Orphanet:319581", source="MONDO:equivalentTo", source xref: Orphanet:319581 {source="MONDO:equivalentTo", source="OMIM:615978"} xref: UMLS:C4014863 {source="MEDGEN:863300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5439 {source="MONDO:mim2gene_medgen"} ! IFNGR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -332678,8 +330769,8 @@ xref: OMIM:615979 {source="MONDO:equivalentTo"} xref: UMLS:C4014864 {source="MEDGEN:863301", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DC-OMIM:615979", source="DOID:0081209", source="MONDO:Redundant", source="OMIM:615979"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16510 ! FBXO31 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16510 {source="MONDO:mim2gene_medgen"} ! FBXO31 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16510 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16510 {source="OMIM:615979"} [Term] id: MONDO:0014431 @@ -332705,7 +330796,7 @@ xref: Orphanet:435660 {source="MONDO:equivalentTo"} xref: UMLS:C4014869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863306"} is_a: MONDO:0000816 {source="DC-OMIM:615980"} ! abdominal obesity-metabolic syndrome is_a: MONDO:0020088 {source="DOID:0070206", source="OMIM:615980", source="Orphanet:435660"} ! familial partial lipodystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6621 {source="MONDO:mim2gene_medgen"} ! LIPE +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6621 {source="OMIM:615980"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13126/lipe-related-familial-partial-lipodystrophy" xsd:anyURI {source="GARD:0013126"} [Term] @@ -332734,7 +330825,6 @@ is_a: MONDO:0015229 {source="DC-OMIM:615981", source="DOID:0110124", source="MES intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/967 ! BBS2 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615981"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/967 {source="MONDO:mim2gene_medgen"} ! BBS2 [Term] id: MONDO:0014433 @@ -332755,7 +330845,7 @@ xref: Orphanet:110 {source="OMIM:615982"} xref: UMLS:C2936864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:423627"} is_a: MONDO:0015229 {source="DC-OMIM:615982", source="DOID:0110126", source="EFO:0009024", source="MESH:C537912", source="OMIM:615982"} ! Bardet-Biedl syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615982"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/969 {source="MONDO:mim2gene_medgen"} ! BBS4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/969 {source="OMIM:615982"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/823/bardet-biedl-syndrome-4" xsd:anyURI {source="GARD:0000823"} [Term] @@ -332778,9 +330868,9 @@ xref: OMIM:615983 {source="DOID:0110127", source="MONDO:equivalentTo"} xref: UMLS:C3892039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:856141"} is_a: MONDO:0015229 {source="DC-OMIM:615983", source="DOID:0110127", source="EFO:0009025", source="MONDO:Redundant", source="OMIM:615983"} ! Bardet-Biedl syndrome intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/970 ! BBS5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/970 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615983"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/970 {source="MONDO:mim2gene_medgen"} ! BBS5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/970 {source="OMIM:615983"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10204/bardet-biedl-syndrome-5" xsd:anyURI {source="GARD:0010204"} [Term] @@ -332804,9 +330894,9 @@ xref: OMIM:615984 {source="DOID:0110129", source="MONDO:equivalentTo"} xref: UMLS:C1859565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347180"} is_a: MONDO:0015229 {source="DC-OMIM:615984", source="DOID:0110129", source="EFO:0009026", source="MESH:C565916", source="MONDO:Redundant", source="OMIM:615984"} ! Bardet-Biedl syndrome intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18758 ! BBS7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18758 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615984"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18758 {source="MONDO:mim2gene_medgen"} ! BBS7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18758 {source="OMIM:615984"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10206/bardet-biedl-syndrome-7" xsd:anyURI {source="GARD:0010206"} [Term] @@ -332832,7 +330922,6 @@ is_a: MONDO:0015229 {source="DC-OMIM:615985", source="DOID:0110130", source="MES intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20087 ! TTC8 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615985"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20087 {source="MONDO:mim2gene_medgen"} ! TTC8 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10207/bardet-biedl-syndrome-8" xsd:anyURI {source="GARD:0010207"} [Term] @@ -332857,10 +330946,10 @@ xref: UMLS:C1859567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015229 {source="DC-OMIM:615986", source="DOID:0110131", source="EFO:0009027", source="MESH:C565918", source="MONDO:Redundant", source="OMIM:615986"} ! Bardet-Biedl syndrome is_a: MONDO:0700236 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BBS9-related ciliopathy intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30000 ! BBS9 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30000 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615986"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30000 {source="MONDO:mim2gene_medgen"} ! BBS9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30000 {source="OMIM:615986"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10208/bardet-biedl-syndrome-9" xsd:anyURI {source="GARD:0010208"} @@ -332886,10 +330975,10 @@ xref: UMLS:C1859568 {source="MEDGEN:347909", source="MONDO:equivalentTo", source is_a: MONDO:0015229 {source="DC-OMIM:615987", source="DOID:0110132", source="EFO:0009022", source="MESH:C565919", source="MONDO:Redundant", source="OMIM:615987"} ! Bardet-Biedl syndrome is_a: MONDO:0700237 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BBS10-related ciliopathy intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26291 ! BBS10 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26291 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615987"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26291 {source="MONDO:mim2gene_medgen"} ! BBS10 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26291 {source="OMIM:615987"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -332917,7 +331006,6 @@ is_a: MONDO:0016153 ! qualitative or quantitative defects of TRIM32 intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16380 ! TRIM32 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615988"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16380 {source="MONDO:mim2gene_medgen"} ! TRIM32 [Term] id: MONDO:0014440 @@ -332940,9 +331028,9 @@ xref: OMIM:615989 {source="MONDO:equivalentTo", source="DOID:0110134"} xref: UMLS:C1859570 {source="MEDGEN:347910", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015229 {source="DC-OMIM:615989", source="DOID:0110134", source="EFO:0009023", source="MESH:C565921", source="MONDO:Redundant", source="OMIM:615989"} ! Bardet-Biedl syndrome intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26648 ! BBS12 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26648 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615989"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26648 {source="MONDO:mim2gene_medgen"} ! BBS12 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26648 {source="OMIM:615989"} [Term] id: MONDO:0014441 @@ -332968,7 +331056,6 @@ is_a: MONDO:0015229 {source="DC-OMIM:615990", source="DOID:0110135", source="MES intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7121 ! MKS1 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615990"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7121 {source="MONDO:mim2gene_medgen"} ! MKS1 [Term] id: MONDO:0014442 @@ -333018,7 +331105,6 @@ xref: UMLS:C3150127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015229 {source="DC-OMIM:615992", source="DOID:0110137", source="MONDO:Redundant", source="OMIM:615992"} ! Bardet-Biedl syndrome intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28027 ! WDPCP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28027 {source="MONDO:mim2gene_medgen"} ! WDPCP [Term] id: MONDO:0014444 @@ -333044,7 +331130,6 @@ is_a: MONDO:0015229 {source="DC-OMIM:615993", source="DOID:0110138", source="MON intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10671 ! SDCCAG8 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615993"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10671 {source="MONDO:mim2gene_medgen"} ! SDCCAG8 [Term] id: MONDO:0014445 @@ -333066,9 +331151,9 @@ xref: OMIM:615994 {source="DOID:0110139", source="MONDO:equivalentTo"} xref: UMLS:C3714980 {source="MEDGEN:811538", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015229 {source="DC-OMIM:615994", source="DOID:0110139", source="MONDO:Redundant", source="OMIM:615994"} ! Bardet-Biedl syndrome intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6741 ! LZTFL1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6741 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615994"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6741 {source="MONDO:mim2gene_medgen"} ! LZTFL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6741 {source="OMIM:615994"} [Term] id: MONDO:0014446 @@ -333090,9 +331175,9 @@ xref: OMIM:615995 {source="MONDO:equivalentTo", source="DOID:0110140"} xref: UMLS:C3806174 {source="MEDGEN:812504", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015229 {source="DC-OMIM:615995", source="DOID:0110140", source="MONDO:Redundant", source="OMIM:615995"} ! Bardet-Biedl syndrome intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28093 ! BBIP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28093 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615995"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28093 {source="MONDO:mim2gene_medgen"} ! BBIP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28093 {source="OMIM:615995"} [Term] id: MONDO:0014447 @@ -333114,9 +331199,9 @@ xref: OMIM:615996 {source="MONDO:equivalentTo", source="DOID:0110141"} xref: UMLS:C3889475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:855173"} is_a: MONDO:0015229 {source="DC-OMIM:615996", source="DOID:0110141", source="MONDO:Redundant", source="OMIM:615996"} ! Bardet-Biedl syndrome intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18626 ! IFT27 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18626 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615996"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18626 {source="MONDO:mim2gene_medgen"} ! IFT27 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18626 {source="OMIM:615996"} [Term] id: MONDO:0014448 @@ -333142,7 +331227,6 @@ xref: UMLS:C0342185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="MESH:D050010"} ! hereditary disease is_a: MONDO:0004425 {source="NCIT:C131813"} ! hyperthyroidism is_a: MONDO:0005333 {source="MESH:D050010"} ! hyperthyroxinemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/399 {source="MONDO:mim2gene_medgen"} ! ALB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -333167,7 +331251,6 @@ xref: SCTID:718721006 {source="MONDO:equivalentTo"} xref: UMLS:C4305253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930922"} is_a: MONDO:0005570 {source="Orphanet:86816"} ! hematologic disorder relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/399 {source="MONDO:mim2gene_medgen"} ! ALB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13056/congenital-analbuminemia" xsd:anyURI {source="GARD:0013056"} @@ -333191,8 +331274,8 @@ xref: Orphanet:180188 {source="OMIM:616001"} xref: UMLS:C4014918 {source="MEDGEN:863355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015855 {source="MONDO:Redundant", source="OMIM:616001", source="Orphanet:180188/btnt"} ! isolated congenital breast hypoplasia/aplasia intersection_of: MONDO:0015855 ! isolated congenital breast hypoplasia/aplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9670 ! PTPRF -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9670 {source="MONDO:mim2gene_medgen"} ! PTPRF +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9670 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9670 {source="OMIM:616001"} [Term] id: MONDO:0014451 @@ -333219,7 +331302,6 @@ is_a: MONDO:0005363 {source="DC-OMIM:616002", source="DOID:0111132", source="MON intersection_of: MONDO:0005363 ! inherited focal segmental glomerulosclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8616 ! PAX2 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014451 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8616 {source="MONDO:mim2gene_medgen"} ! PAX2 [Term] id: MONDO:0014452 @@ -333272,7 +331354,6 @@ xref: Orphanet:397596 {source="OMIM:616005"} xref: UMLS:C4014934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863371"} is_a: MONDO:0018338 {source="Orphanet:397596/btnt"} ! activated PI3K-delta syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014453 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8979 {source="MONDO:mim2gene_medgen"} ! PIK3R1 [Term] id: MONDO:0014454 @@ -333295,7 +331376,6 @@ xref: UMLS:C4014939 {source="MEDGEN:863376", source="MONDO:equivalentTo", source is_a: MONDO:0016256 {source="DC-OMIM:616006", source="MONDO:Redundant", source="OMIM:616006"} ! Hennekam syndrome intersection_of: MONDO:0016256 ! Hennekam syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23109 ! FAT4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23109 {source="MONDO:mim2gene_medgen"} ! FAT4 [Term] id: MONDO:0014455 @@ -333319,7 +331399,7 @@ is_a: MONDO:0015514 {source="Orphanet:436174"} ! hereditary endocrine growth dis is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0016761 {source="Orphanet:436174", source="PMID:31633310"} ! spondyloepiphyseal dysplasia is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29685 {source="MONDO:mim2gene_medgen"} ! IARS2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29685 {source="OMIM:616007"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -333344,10 +331424,10 @@ is_a: MONDO:0018542 {source="DC-OMIM:616022", source="OMIM:616022", source="Orph is_a: MONDO:0028226 {source="Orphanet:423384"} ! autosomal recessive severe congenital neutropenia intersection_of: MONDO:0018542 ! severe congenital neutropenia intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26926 ! JAGN1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26926 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26926 {source="MONDO:mim2gene_medgen"} ! JAGN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26926 {source="OMIM:616022"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -333374,9 +331454,9 @@ xref: Orphanet:247262 {source="OMIM:616025"} xref: UMLS:C4014958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863395"} is_a: MONDO:0016596 {source="DOID:0070432", source="MONDO:Redundant", source="OMIM:616025", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23213 ! PIGW +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23213 relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23213 {source="MONDO:mim2gene_medgen"} ! PIGW +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23213 {source="OMIM:616025"} [Term] id: MONDO:0014458 @@ -333401,7 +331481,6 @@ is_a: MONDO:0100238 {source="DC-OMIM:616026", source="MONDO:Redundant", source=" intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young intersection_of: MONDO:0100238 ! inherited Fanconi renotubular syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5024 ! HNF4A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5024 {source="MONDO:mim2gene_medgen"} ! HNF4A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -333427,7 +331506,6 @@ is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:616028", source="Orp is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0007034 ! Adams-Oliver syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7881 ! NOTCH1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7881 {source="MONDO:mim2gene_medgen"} ! NOTCH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -333452,7 +331530,6 @@ xref: UMLS:C4014987 {source="MONDO:equivalentTo", source="MEDGEN:863424", source is_a: MONDO:0017672 {source="MONDO:0020097-obsoleted"} ! focal palmoplantar keratoderma is_a: MONDO:0019287 {source="Orphanet:423454"} ! ectodermal dysplasia syndrome is_a: MONDO:0019289 {source="Orphanet:423454"} ! hyperpigmentation of the skin -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2799 {source="MONDO:mim2gene_medgen"} ! GRHL2 [Term] id: MONDO:0014461 @@ -333476,8 +331553,8 @@ xref: UMLS:C4014988 {source="MEDGEN:863425", source="MONDO:equivalentTo", source is_a: MONDO:0018555 {source="DOID:0090081", source="MONDO:Redundant", source="OMIM:616030"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22788 ! FEZF1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22788 {source="MONDO:mim2gene_medgen"} ! FEZF1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22788 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22788 {source="OMIM:616030"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -333501,8 +331578,8 @@ xref: OMIM:616032 {source="MONDO:equivalentTo", source="DOID:0111133"} xref: UMLS:C4014993 {source="MEDGEN:863430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005363 {source="DC-OMIM:616032", source="DOID:0111133", source="MONDO:Redundant", source="OMIM:616032"} ! inherited focal segmental glomerulosclerosis intersection_of: MONDO:0005363 ! inherited focal segmental glomerulosclerosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14082 ! ANLN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14082 {source="MONDO:mim2gene_medgen"} ! ANLN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14082 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14082 {source="OMIM:616032"} [Term] id: MONDO:0014463 @@ -333537,7 +331614,7 @@ xref: UMLS:C1857252 {source="MEDGEN:346552", source="MONDO:equivalentTo", source is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0019046 {source="Orphanet:431361"} ! leukodystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014464 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26404 {source="MONDO:mim2gene_medgen"} ! NADK2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26404 {source="OMIM:616034"} [Term] id: MONDO:0014465 @@ -333564,9 +331641,9 @@ xref: Orphanet:244 {source="OMIM:616037"} xref: UMLS:C4015016 {source="MEDGEN:863453", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:616037", source="DOID:0110624", source="MONDO:Redundant", source="OMIM:616037"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28303 ! ODAD3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28303 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014465 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28303 {source="MONDO:mim2gene_medgen"} ! ODAD3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28303 {source="OMIM:616037"} [Term] id: MONDO:0014466 @@ -333595,7 +331672,6 @@ xref: UMLS:C4015019 {source="MEDGEN:863456", source="MONDO:equivalentTo", source is_a: MONDO:0000179 {source="MONDO:DC", source="MONDO:Redundant", source="OMIM:616038", source="Orphanet:583602"} ! Neu-Laxova syndrome intersection_of: MONDO:0000179 ! Neu-Laxova syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19129 ! PSAT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19129 {source="MONDO:mim2gene_medgen"} ! PSAT1 [Term] id: MONDO:0014467 @@ -333625,8 +331701,8 @@ is_a: MONDO:0015626 {source="DOID:0110203/inferred", source="MONDO:Redundant", s is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0017058 {source="Orphanet:435998"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2277 ! COX6A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2277 {source="MONDO:mim2gene_medgen"} ! COX6A1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2277 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2277 {source="OMIM:616039"} [Term] id: MONDO:0014468 @@ -333653,7 +331729,6 @@ is_a: MONDO:0018940 {source="DOID:0110659", source="MONDO:Redundant", source="OM intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11510 ! SYT2 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014468 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11510 {source="MONDO:mim2gene_medgen"} ! SYT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -333679,8 +331754,8 @@ xref: OMIM:616042 {source="MONDO:equivalentTo", source="DOID:0110464"} xref: UMLS:C4015050 {source="MEDGEN:863487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DC-OMIM:616042", source="DOID:0110464", source="MONDO:Redundant", source="OMIM:616042"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13517 ! CLIC5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13517 {source="MONDO:mim2gene_medgen"} ! CLIC5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13517 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13517 {source="OMIM:616042"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -333709,7 +331784,6 @@ xref: UMLS:C3892048 {source="MEDGEN:856147", source="MONDO:equivalentTo", source is_a: MONDO:0019587 {source="DC-OMIM:616044", source="DOID:0110586", source="MONDO:Redundant", source="OMIM:616044"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29203 ! TBC1D24 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29203 {source="MONDO:mim2gene_medgen"} ! TBC1D24 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -333770,7 +331844,6 @@ xref: OMIM:616050 {source="Orphanet:436166/e", source="MONDO:equivalentTo", sour xref: Orphanet:436166 {source="MONDO:equivalentTo"} xref: UMLS:C4015067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863504"} is_a: MONDO:0017953 {source="Orphanet:436166"} ! hereditary periodic fever syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16412 {source="MONDO:mim2gene_medgen"} ! NLRC4 [Term] id: MONDO:0014473 @@ -333793,9 +331866,9 @@ is_a: MONDO:0016660 {source="DC-OMIM:616051", source="DOID:0070283", source="MON is_a: MONDO:0019342 ! Seckel syndrome is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1856 ! CENPE +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1856 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616051"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1856 {source="MONDO:mim2gene_medgen"} ! CENPE +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1856 {source="OMIM:616051"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -333831,7 +331904,6 @@ intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystro intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37276 ! CRPPA relationship: disease_has_basis_in_disruption_of GO:0006493 ! protein O-linked glycosylation relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37276 {source="MONDO:mim2gene_medgen"} ! CRPPA [Term] id: MONDO:0014475 @@ -333854,7 +331926,6 @@ xref: Orphanet:423275 {source="MONDO:equivalentTo", source="OMIM:616053"} xref: SCTID:734020000 {source="MONDO:equivalentTo"} xref: UMLS:C4518336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385103"} is_a: MONDO:0019792 {source="EFO:0009057", source="Orphanet:423275"} ! autosomal dominant cerebellar ataxia type I -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19967 {source="MONDO:mim2gene_medgen"} ! CCDC88C [Term] id: MONDO:0014476 @@ -333901,8 +331972,8 @@ xref: UMLS:C4015119 {source="MONDO:equivalentTo", source="MEDGEN:863556", source is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:616056", source="MONDO:Redundant", source="OMIM:616056"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6231 ! KCNB1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6231 {source="MONDO:mim2gene_medgen"} ! KCNB1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6231 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6231 {source="OMIM:616056"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12391/early-infantile-epileptic-encephalopathy-26" xsd:anyURI {source="GARD:0012391"} @@ -333926,8 +331997,8 @@ xref: Orphanet:238722 {source="OMIM:616059"} xref: UMLS:C4015124 {source="MEDGEN:863561", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016558 {source="DC-OMIM:616059", source="MONDO:Redundant", source="OMIM:616059", source="Orphanet:238722/btnt"} ! familial congenital mirror movements intersection_of: MONDO:0016558 ! familial congenital mirror movements -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2955 ! DNAL4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2955 {source="MONDO:mim2gene_medgen"} ! DNAL4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2955 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2955 {source="OMIM:616059"} [Term] id: MONDO:0014479 @@ -333944,7 +332015,7 @@ xref: Orphanet:79152 {source="OMIM:616063"} xref: UMLS:C4015128 {source="MEDGEN:863565", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:616063"} ! porokeratosis is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16192 {source="MONDO:mim2gene_medgen"} ! SLC17A9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16192 {source="OMIM:616063"} [Term] id: MONDO:0014480 @@ -333966,7 +332037,6 @@ xref: Orphanet:251510 {source="OMIM:616067"} xref: UMLS:C4015129 {source="MEDGEN:863566", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010765 {source="DC-OMIM:616067", source="DOID:0111770", source="OMIM:616067"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16700 {source="MONDO:mim2gene_medgen"} ! ZFPM2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -333990,7 +332060,6 @@ xref: UMLS:C4015130 {source="MONDO:equivalentTo", source="MEDGEN:863567", source is_a: MONDO:0017411 {source="DC-OMIM:616069", source="MONDO:Redundant", source="OMIM:616069", source="Orphanet:294023/btnt"} ! neonatal inflammatory skin and bowel disease intersection_of: MONDO:0017411 ! neonatal inflammatory skin and bowel disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3236 ! EGFR -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3236 {source="MONDO:mim2gene_medgen"} ! EGFR [Term] id: MONDO:0014482 @@ -334025,7 +332094,6 @@ xref: UMLS:C4015141 {source="MONDO:equivalentTo", source="MEDGEN:863578", source is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070059", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15573 {source="MONDO:mim2gene_medgen"} ! SETBP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -334047,7 +332115,6 @@ xref: OMIM:616079 {source="Orphanet:397758/e", source="MONDO:equivalentTo", sour xref: Orphanet:397758 {source="MONDO:equivalentTo", source="OMIM:616079"} xref: UMLS:C4015146 {source="MEDGEN:863583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019118 {source="Orphanet:397758"} ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6174 {source="MONDO:mim2gene_medgen"} ! ITM2B [Term] id: MONDO:0014484 @@ -334067,8 +332134,8 @@ xref: OMIM:616080 {source="MONDO:equivalentTo"} xref: UMLS:C4015156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863593"} is_a: MONDO:0016660 {source="DC-OMIM:616080", source="DOID:0070284", source="MONDO:Redundant", source="OMIM:616080"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1777 ! CDK6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1777 {source="MONDO:mim2gene_medgen"} ! CDK6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1777 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1777 {source="OMIM:616080"} [Term] id: MONDO:0014485 @@ -334090,8 +332157,8 @@ xref: Orphanet:2254 {source="OMIM:616081"} xref: UMLS:C4015160 {source="MEDGEN:863597", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016396 {source="DOID:0112334", source="MONDO:Redundant", source="Orphanet:2254/btnt"} ! pontocerebellar hypoplasia type 1 intersection_of: MONDO:0016396 ! pontocerebellar hypoplasia type 1 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17035 ! EXOSC8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17035 {source="MONDO:mim2gene_medgen"} ! EXOSC8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17035 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17035 {source="OMIM:616081"} [Term] id: MONDO:0014486 @@ -334119,7 +332186,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic relationship: excluded_subClassOf MONDO:0014482 {source="DOID:0070060", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability, autosomal dominant 29 relationship: excluded_subClassOf MONDO:0015802 {source="OMIM:616083", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16966 {source="MONDO:mim2gene_medgen"} ! ZMYND11 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16966 {source="OMIM:616083"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -334149,7 +332216,6 @@ is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune sy is_a: MONDO:0015194 {source="DOID:0080209", source="Orphanet:369861/inferred"} ! sideroblastic anemia is_a: MONDO:0020099 {source="Orphanet:369861"} ! inherited sideroblastic anemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014487 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17341 {source="MONDO:mim2gene_medgen"} ! TRNT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI [Term] @@ -334169,8 +332235,8 @@ xref: UMLS:C4015183 {source="MEDGEN:863620", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease is_a: MONDO:0005148 {source="DC-OMIM:616087", source="MONDO:Redundant"} ! type 2 diabetes mellitus intersection_of: MONDO:0005148 ! type 2 diabetes mellitus -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19165 ! TBC1D4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19165 {source="MONDO:mim2gene_medgen"} ! TBC1D4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19165 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19165 {source="OMIM:616087"} [Term] id: MONDO:0014489 @@ -334196,7 +332262,6 @@ xref: UMLS:C4015184 {source="MEDGEN:863621", source="MONDO:equivalentTo", source is_a: MONDO:0000173 {source="DC-OMIM:616094", source="OMIM:616094"} ! muscular dystrophy-dystroglycanopathy, type C is_a: MONDO:0015152 {source="Orphanet:445110"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016155 {source="Orphanet:445110"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26267 {source="MONDO:mim2gene_medgen"} ! POMK [Term] id: MONDO:0014490 @@ -334217,7 +332282,6 @@ xref: UMLS:C4015186 {source="MEDGEN:863623", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005066 {source="https://orcid.org/0000-0002-1780-5230"} ! metabolic disease is_a: MONDO:0019223 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of fatty acid and ketone body metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10922 {source="MONDO:mim2gene_medgen"} ! SLC16A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -334244,7 +332308,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar intersection_of: MONDO:0003778 ! inborn error of immunity intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/989 ! BCL10 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014491 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/989 {source="MONDO:mim2gene_medgen"} ! BCL10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6186" xsd:anyURI [Term] @@ -334272,7 +332335,6 @@ xref: Orphanet:420686 {source="MONDO:equivalentTo", source="OMIM:616099"} xref: SCTID:764108000 {source="MONDO:equivalentTo"} xref: UMLS:C4015202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863639"} is_a: MONDO:0017672 {source="MONDO:0020097-obsoleted"} ! focal palmoplantar keratoderma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29300 {source="MONDO:mim2gene_medgen"} ! KANK2 [Term] id: MONDO:0014493 @@ -334309,7 +332371,6 @@ xref: UMLS:C4015214 {source="MEDGEN:863651", source="MONDO:equivalentTo", source is_a: MONDO:0007179 {source="NCIT:C126341"} ! autoimmune disease is_a: MONDO:0017979 {source="DC-OMIM:616100"} ! autoimmune lymphoproliferative syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014493 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2505 {source="MONDO:mim2gene_medgen"} ! CTLA4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12316/autoimmune-lymphoproliferative-syndrome-due-to-ctla4-haploinsufficiency" xsd:anyURI {source="GARD:0012316"} @@ -334332,9 +332393,9 @@ xref: Orphanet:247353 {source="OMIM:616106"} xref: UMLS:C4015235 {source="MEDGEN:863672", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100171 {source="OMIM:616106"} ! psoriasis, susceptibility to intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18971 ! AP1S3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18971 intersection_of: predisposes_towards MONDO:0100491 ! generalized pustular psoriasis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18971 {source="MONDO:mim2gene_medgen"} ! AP1S3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18971 {source="OMIM:616106"} [Term] id: MONDO:0014495 @@ -334357,7 +332418,7 @@ xref: UMLS:C4015242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:436245", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17964 {source="MONDO:mim2gene_medgen"} ! RDH11 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17964 {source="OMIM:616108"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI @@ -334386,8 +332447,8 @@ is_a: MONDO:0000066 {source="DC-OMIM:616111", source="MONDO:indirect"} ! mitocho is_a: MONDO:0015448 {source="DOID:0080118", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency is_a: MONDO:0020811 {source="OMIM:616111", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34399 ! UQCC3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34399 {source="MONDO:mim2gene_medgen"} ! UQCC3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/34399 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/34399 {source="OMIM:616111"} [Term] id: MONDO:0014497 @@ -334409,7 +332470,6 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:453533", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2938 {source="MONDO:mim2gene_medgen"} ! DMXL2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -334443,7 +332503,6 @@ is_a: MONDO:0018768 {source="DC-OMIM:616115", source="DOID:0090065", source="MON is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome intersection_of: MONDO:0018768 ! familial cold autoinflammatory syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16412 ! NLRC4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16412 {source="MONDO:mim2gene_medgen"} ! NLRC4 [Term] id: MONDO:0014499 @@ -334466,8 +332525,8 @@ xref: OMIM:616116 {source="MONDO:equivalentTo"} xref: UMLS:C4015283 {source="MEDGEN:863720", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DC-OMIM:616116", source="DOID:0081210", source="MONDO:Redundant", source="OMIM:616116"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7680 ! NDST1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7680 {source="MONDO:mim2gene_medgen"} ! NDST1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7680 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7680 {source="OMIM:616116"} [Term] id: MONDO:0014500 @@ -334490,7 +332549,7 @@ xref: OMIM:616117 {source="Orphanet:436242/e", source="EFO:0005304", source="MON xref: Orphanet:436242 {source="MONDO:equivalentTo"} xref: UMLS:C4015285 {source="MEDGEN:863722", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005449 {source="EFO:0005304"} ! conduction system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19661 {source="MONDO:mim2gene_medgen"} ! TNNI3K +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19661 {source="OMIM:616117"} [Term] id: MONDO:0014501 @@ -334505,7 +332564,6 @@ xref: OMIM:616118 {source="MONDO:equivalentTo"} xref: UMLS:C4015286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863723"} is_a: MONDO:0003004 {source="https://orcid.org/0000-0001-5208-3432"} ! macular degeneration is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3604 {source="MONDO:mim2gene_medgen"} ! FBN2 [Term] id: MONDO:0014502 @@ -334533,7 +332591,7 @@ xref: Orphanet:319563 {source="OMIM:616126", source="MONDO:equivalentTo"} xref: UMLS:C4015293 {source="MEDGEN:863730", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases relationship: excluded_subClassOf MONDO:0018782 {source="Orphanet:319563", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete type 1 interferonopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4053 {source="MONDO:mim2gene_medgen"} ! ISG15 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4053 {source="OMIM:616126"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -334562,9 +332620,9 @@ xref: Orphanet:453521 {source="MONDO:equivalentTo"} xref: UMLS:C4015301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863738"} is_a: MONDO:0020043 {source="MONDO:Redundant", source="Orphanet:453521"} ! autosomal recessive congenital cerebellar ataxia intersection_of: MONDO:0020043 ! autosomal recessive congenital cerebellar ataxia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25613 ! CWF19L1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25613 relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:453521", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25613 {source="MONDO:mim2gene_medgen"} ! CWF19L1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25613 {source="OMIM:616127"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -334588,7 +332646,6 @@ is_a: MONDO:0017312 {source="DC-OMIM:616138", source="MONDO:Redundant", source=" intersection_of: MONDO:0017312 ! Perrault syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1160 ! TWNK relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616138"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1160 {source="MONDO:mim2gene_medgen"} ! TWNK [Term] id: MONDO:0014505 @@ -334614,7 +332671,6 @@ is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000 is_a: MONDO:0100062 {source="DC-OMIM:616139", source="DOID:0080444", source="MONDO:Redundant", source="OMIM:616139"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4586 ! GRIN2B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4586 {source="MONDO:mim2gene_medgen"} ! GRIN2B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -334643,9 +332699,9 @@ xref: Orphanet:438114 {source="DOID:0060791", source="MONDO:equivalentTo"} xref: UMLS:C4015323 {source="MEDGEN:863760", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019046 {source="DOID:0060791", source="DOID:0060791/inferred", source="MONDO:Redundant", source="OMIM:616140", source="Orphanet:438114"} ! leukodystrophy intersection_of: MONDO:0019046 ! leukodystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9870 ! RARS1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9870 relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:438114", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9870 {source="MONDO:mim2gene_medgen"} ! RARS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9870 {source="OMIM:616140"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -334688,7 +332744,7 @@ is_a: MONDO:0005381 {source="https://orcid.org/0000-0002-4142-7153"} ! bone diso is_a: MONDO:0015159 {source="Orphanet:1388"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1388", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20324 {source="MONDO:mim2gene_medgen"} ! TGDS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20324 {source="OMIM:616145"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -334716,7 +332772,6 @@ is_a: MONDO:0000390 {source="MONDO:Redundant", source="OMIM:616151"} ! vitellifo is_a: MONDO:0011979 {source="Orphanet:99000/btnt"} ! adult-onset foveomacular vitelliform dystrophy intersection_of: MONDO:0000390 ! vitelliform macular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6055 ! IMPG1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6055 {source="MONDO:mim2gene_medgen"} ! IMPG1 [Term] id: MONDO:0014509 @@ -334741,7 +332796,6 @@ is_a: MONDO:0700242 {source="https://clinicalgenome.org/working-groups/clinical- intersection_of: MONDO:0000390 ! vitelliform macular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 ! IMPG2 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 {source="MONDO:mim2gene_medgen"} ! IMPG2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -334776,7 +332830,6 @@ is_a: MONDO:0019701 {source="PMID:31633310"} ! chondrodysplasia punctata is_a: MONDO:0100275 {source="Orphanet:438178", source="https://www.clinicalgenome.org/affiliation/40049/"} ! fatty acyl-CoA reductase defects relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014510 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:438178", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26222 {source="MONDO:mim2gene_medgen"} ! FAR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -334812,7 +332865,6 @@ is_a: MONDO:0015626 {source="DOID:0110171/inferred", source="MONDO:Redundant", s is_a: MONDO:0018993 {source="DOID:0110171"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5542 ! IGHMBP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5542 {source="MONDO:mim2gene_medgen"} ! IGHMBP2 [Term] id: MONDO:0014512 @@ -334842,7 +332894,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070061", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_characteristic SO:1000008 ! point_mutation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9701 {source="MONDO:mim2gene_medgen"} ! PURA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9701 {source="OMIM:616158"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -334867,9 +332919,9 @@ is_a: MONDO:0015735 {source="Orphanet:171430/btnt"} ! severe congenital nemaline is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy is_a: MONDO:0018958 {source="DOID:0110931", source="MONDO:Redundant", source="OMIM:616165"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6649 ! LMOD3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6649 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014513 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6649 {source="MONDO:mim2gene_medgen"} ! LMOD3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6649 {source="OMIM:616165"} [Term] id: MONDO:0014514 @@ -334891,8 +332943,8 @@ xref: Orphanet:91387 {source="OMIM:616166"} xref: UMLS:C4015368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863805"} is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:616166", source="Orphanet:91387/btnt"} ! familial thoracic aortic aneurysm and aortic dissection intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29673 ! MFAP5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29673 {source="MONDO:mim2gene_medgen"} ! MFAP5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29673 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29673 {source="OMIM:616166"} [Term] id: MONDO:0014515 @@ -334907,7 +332959,6 @@ xref: MEDGEN:863808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616170 {source="MONDO:equivalentTo"} xref: UMLS:C4015371 {source="MEDGEN:863808", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005150 ! age-related macular degeneration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28486 {source="MONDO:mim2gene_medgen"} ! MFSD8 [Term] id: MONDO:0014516 @@ -334930,9 +332981,9 @@ xref: UMLS:C4015388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000181 {source="DC-OMIM:616171", source="MONDO:Redundant", source="OMIM:616171"} ! microcephaly and chorioretinopathy is_a: MONDO:0006025 {source="DOID:0080106"} ! autosomal recessive disease intersection_of: MONDO:0000181 ! microcephaly and chorioretinopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11397 ! PLK4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11397 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616171"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11397 {source="MONDO:mim2gene_medgen"} ! PLK4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11397 {source="OMIM:616171"} [Term] id: MONDO:0014517 @@ -334959,8 +333010,8 @@ xref: Orphanet:36387 {source="OMIM:616172"} xref: UMLS:C4015395 {source="MEDGEN:863832", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018214 {source="DC-OMIM:616172", source="DOID:0111301", source="MONDO:Redundant", source="OMIM:616172"} ! generalized epilepsy with febrile seizures plus intersection_of: MONDO:0018214 ! generalized epilepsy with febrile seizures plus -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18539 ! STX1B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18539 {source="MONDO:mim2gene_medgen"} ! STX1B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18539 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18539 {source="OMIM:616172"} [Term] id: MONDO:0014518 @@ -334985,7 +333036,7 @@ xref: OMIM:616176 {source="Orphanet:438207", source="MONDO:equivalentTo", source xref: Orphanet:438207 {source="MONDO:equivalentTo", source="DOID:0111048"} xref: UMLS:C4015405 {source="MONDO:equivalentTo", source="MEDGEN:863842", source="MONDO:MEDGEN"} is_a: MONDO:0000009 {source="DC-OMIM:616176", source="DOID:0111048", source="MONDO:Redundant", source="OMIM:616176"} ! inherited bleeding disorder, platelet-type -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9382 {source="MONDO:mim2gene_medgen"} ! PRKACG +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9382 {source="OMIM:616176"} [Term] id: MONDO:0014519 @@ -335021,7 +333072,7 @@ xref: OMIM:616185 {source="Orphanet:444048", source="MONDO:equivalentTo", source xref: Orphanet:444048 {source="MONDO:equivalentTo"} xref: UMLS:C4015409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863846"} is_a: MONDO:0019852 {source="Orphanet:444048"} ! inherited primary ovarian failure -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21484 {source="MONDO:mim2gene_medgen"} ! MCM9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21484 {source="OMIM:616185"} [Term] id: MONDO:0014521 @@ -335054,8 +333105,8 @@ is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder is_a: MONDO:0020074 {source="DC-OMIM:616187", source="DOID:0111447", source="MONDO:Redundant", source="NCIT:C142804", source="OMIM:616187", source="Orphanet:435438"} ! progressive myoclonus epilepsy is_a: MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! variable age onset epilepsy intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6233 ! KCNC1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6233 {source="MONDO:mim2gene_medgen"} ! KCNC1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6233 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6233 {source="OMIM:616187"} [Term] id: MONDO:0014522 @@ -335070,7 +333121,7 @@ xref: OMIM:616188 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:616188"} xref: UMLS:C4015424 {source="MEDGEN:863861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019200 ! retinitis pigmentosa -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12406 {source="MONDO:mim2gene_medgen"} ! TUB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12406 {source="OMIM:616188"} [Term] id: MONDO:0014523 @@ -335090,7 +333141,7 @@ xref: Orphanet:445062 {source="MONDO:equivalentTo"} xref: UMLS:C4015436 {source="MEDGEN:863873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100309 {source="Orphanet:445062"} ! hereditary ataxia relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:445062", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9439 {source="MONDO:mim2gene_medgen"} ! DNAJC3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9439 {source="OMIM:616192"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI [Term] @@ -335115,8 +333166,8 @@ xref: OMIM:616193 {source="MONDO:equivalentTo"} xref: UMLS:C4015444 {source="MEDGEN:863881", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DC-OMIM:616193", source="DOID:0081211", source="MONDO:Redundant", source="OMIM:616193"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14074 ! FMN2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14074 {source="MONDO:mim2gene_medgen"} ! FMN2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14074 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14074 {source="OMIM:616193"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -335142,9 +333193,9 @@ xref: UMLS:C5567743 {source="MEDGEN:1799166", source="MONDO:equivalentTo", sourc is_a: MONDO:0000732 {source="DC-OMIM:616198", source="DOID:0111500", source="MONDO:Redundant", source="OMIM:616198"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14880 ! GTPBP3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14880 relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:444013", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14880 {source="MONDO:mim2gene_medgen"} ! GTPBP3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14880 {source="OMIM:616198"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -335175,7 +333226,6 @@ is_a: MONDO:0100314 {source="https://clinicalgenome.org/affiliation/40097/"} ! G intersection_of: MONDO:0000192 ! polyglucosan body myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4699 ! GYG1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014526 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4699 {source="MONDO:mim2gene_medgen"} ! GYG1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6130" xsd:string @@ -335200,7 +333250,7 @@ xref: UMLS:C4015461 {source="MEDGEN:863898", source="MONDO:equivalentTo", source is_a: MONDO:0015356 {source="Orphanet:435953"} ! hereditary neoplastic syndrome is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:435953", source="Orphanet:435953/inferred"} ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:435953", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25356 {source="MONDO:mim2gene_medgen"} ! SPRTN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25356 {source="OMIM:616200"} [Term] id: MONDO:0014528 @@ -335230,7 +333280,7 @@ xref: UMLS:C4015474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="DOID:0060339"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-6330-7526"} ! hereditary disease is_a: MONDO:0005020 {source="Orphanet:435988"} ! intestinal disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25088 {source="MONDO:mim2gene_medgen"} ! SGO1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25088 {source="OMIM:616201"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6646" xsd:anyURI [Term] @@ -335258,7 +333308,7 @@ is_a: MONDO:0015159 {source="Orphanet:444072"} ! multiple congenital anomalies/d is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:444072", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11551 {source="MONDO:mim2gene_medgen"} ! BRF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11551 {source="OMIM:616202"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -335290,8 +333340,8 @@ xref: Orphanet:363432 {source="OMIM:616204", source="MONDO:equivalentTo"} xref: UMLS:C4015505 {source="MEDGEN:863942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018189 {source="MONDO:Redundant", source="Orphanet:363432"} ! autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome intersection_of: MONDO:0018189 ! autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4576 ! GRID2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4576 {source="MONDO:mim2gene_medgen"} ! GRID2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4576 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4576 {source="OMIM:616204"} [Term] id: MONDO:0014531 @@ -335316,9 +333366,9 @@ xref: Orphanet:803 {source="OMIM:616208"} xref: UMLS:C4015512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863949"} is_a: MONDO:0005144 {source="DC-OMIM:616208", source="DOID:0060355", source="MONDO:Redundant", source="OMIM:616208"} ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12407 ! TUBA4A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12407 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014531 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12407 {source="MONDO:mim2gene_medgen"} ! TUBA4A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12407 {source="OMIM:616208"} [Term] id: MONDO:0014532 @@ -335341,7 +333391,6 @@ xref: UMLS:C4015513 {source="MEDGEN:863950", source="MONDO:equivalentTo", source is_a: MONDO:0009637 {source="DOID:0081357", source="Orphanet:457050"} ! inborn mitochondrial myopathy is_a: MONDO:0016387 {source="Orphanet:457050"} ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020123 {source="Orphanet:457050"} ! metabolic myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15559 {source="MONDO:mim2gene_medgen"} ! CHCHD10 [Term] id: MONDO:0014533 @@ -335368,7 +333417,6 @@ is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset e is_a: MONDO:0100062 {source="DC-OMIM:616211", source="MONDO:Redundant", source="OMIM:616211"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12799 ! WWOX -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12799 {source="MONDO:mim2gene_medgen"} ! WWOX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3829" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -335393,8 +333441,8 @@ xref: UMLS:C4015525 {source="MEDGEN:863962", source="MONDO:equivalentTo", source is_a: MONDO:0015204 {source="DOID:0112236", source="MONDO:Redundant", source="Orphanet:1083/btnt"} ! microlissencephaly is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:616212"} ! lissencephaly spectrum disorders intersection_of: MONDO:0015204 ! microlissencephaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6217 ! KATNB1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6217 {source="MONDO:mim2gene_medgen"} ! KATNB1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6217 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6217 {source="OMIM:616212"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -335410,7 +333458,6 @@ xref: OMIM:616214 {source="MONDO:equivalentTo"} xref: SCTID:237613005 {source="MONDO:equivalentTo"} xref: UMLS:C0342283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137967"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6081 {source="MONDO:mim2gene_medgen"} ! INS [Term] id: MONDO:0014536 @@ -335436,7 +333483,6 @@ is_a: MONDO:0100241 {source="DC-OMIM:616216", source="MONDO:Redundant", source=" intersection_of: MONDO:0100241 ! inherited thrombocytopenia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3495 ! ETV6 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014536 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3495 {source="MONDO:mim2gene_medgen"} ! ETV6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6928" xsd:anyURI [Term] @@ -335460,7 +333506,6 @@ is_a: MONDO:0019005 {source="DC-OMIM:616217", source="DOID:0111126", source="MON intersection_of: MONDO:0019005 ! nephronophthisis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18141 ! DCDC2 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616217"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18141 {source="MONDO:mim2gene_medgen"} ! DCDC2 [Term] id: MONDO:0014538 @@ -335482,9 +333527,9 @@ xref: Orphanet:45358 {source="OMIM:616219"} xref: UMLS:C4015552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863989"} is_a: MONDO:0007614 {source="DOID:0081020", source="MONDO:Redundant", source="OMIM:616219"} ! congenital fibrosis of extraocular muscles intersection_of: MONDO:0007614 ! congenital fibrosis of extraocular muscles -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18603 ! COL25A1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18603 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18603 {source="MONDO:mim2gene_medgen"} ! COL25A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18603 {source="OMIM:616219"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -335511,7 +333556,6 @@ is_a: MONDO:0005363 {source="DOID:0111134", source="MONDO:Redundant", source="OM intersection_of: MONDO:0005363 ! inherited focal segmental glomerulosclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18688 ! CRB2 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014539 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18688 {source="MONDO:mim2gene_medgen"} ! CRB2 [Term] id: MONDO:0014540 @@ -335537,8 +333581,8 @@ xref: UMLS:C4015557 {source="MEDGEN:863994", source="MONDO:equivalentTo", source is_a: MONDO:0015047 {source="https://orcid.org/0000-0002-6601-2165"} ! amelogenesis imperfecta type 1 is_a: MONDO:0019507 {source="DOID:0110064", source="MONDO:Redundant", source="OMIM:616221"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6161 ! ITGB6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6161 {source="MONDO:mim2gene_medgen"} ! ITGB6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6161 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6161 {source="OMIM:616221"} [Term] id: MONDO:0014541 @@ -335595,7 +333639,6 @@ is_a: MONDO:0100559 {source="https://clinicalgenome.org/affiliation/40135/"} ! A intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 ! ALG14 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 {source="MONDO:mim2gene_medgen"} ! ALG14 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI @@ -335632,7 +333675,6 @@ is_a: MONDO:0011933 {source="https://orcid.org/0009-0001-2576-9655"} ! ALG2-cong relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23159 {source="MONDO:mim2gene_medgen"} ! ALG2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6885" xsd:anyURI @@ -335660,6 +333702,7 @@ xref: Orphanet:216812 {source="OMIM:616229", source="MONDO:directSiblingOf"} xref: UMLS:C4015610 {source="MEDGEN:864047", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019019 {source="DC-OMIM:616229", source="DOID:0110345", source="OMIM:616229"} ! osteogenesis imperfecta is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18856 {source="OMIM:616229"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -335689,8 +333732,8 @@ xref: UMLS:C5190825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0020074 {source="DC-OMIM:616230", source="DOID:0111451", source="MONDO:Redundant", source="OMIM:616230", source="Orphanet:424027"} ! progressive myoclonus epilepsy intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14253 ! CERS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14253 {source="MONDO:mim2gene_medgen"} ! CERS1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14253 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14253 {source="OMIM:616230"} [Term] id: MONDO:0014546 @@ -335713,7 +333756,7 @@ xref: SCTID:724095006 {source="MONDO:equivalentTo"} xref: UMLS:C4015624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:864061"} is_a: MONDO:0016199 {source="Orphanet:88635"} ! qualitative or quantitative defects of protein SERCA1 is_a: MONDO:0020120 {source="Orphanet:88635", source="Orphanet:88635/inferred"} ! skeletal muscle disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1512 {source="MONDO:mim2gene_medgen"} ! CASQ1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1512 {source="OMIM:616231"} [Term] id: MONDO:0014547 @@ -335740,7 +333783,6 @@ is_a: MONDO:0000732 {source="DC-OMIM:616239", source="DOID:0111485", source="MON is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26274 ! NARS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26274 {source="MONDO:mim2gene_medgen"} ! NARS2 [Term] id: MONDO:0014548 @@ -335767,7 +333809,6 @@ is_a: MONDO:0019171 {source="OMIM:616247", source="Orphanet:101016-prototype"} ! intersection_of: MONDO:0019171 ! familial long QT syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1442 ! CALM1 relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110655", source="OMIM:616247", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1442 {source="MONDO:mim2gene_medgen"} ! CALM1 [Term] id: MONDO:0014549 @@ -335786,8 +333827,8 @@ xref: OMIM:616248 {source="MONDO:equivalentTo"} xref: UMLS:C4015686 {source="MEDGEN:864123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017436 {source="DC-OMIM:616248", source="MONDO:Redundant", source="OMIM:616248"} ! lethal congenital contracture syndrome intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32550 ! ZBTB42 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32550 {source="MONDO:mim2gene_medgen"} ! ZBTB42 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32550 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32550 {source="OMIM:616248"} [Term] id: MONDO:0014550 @@ -335811,9 +333852,9 @@ xref: Orphanet:768 {source="OMIM:616249"} xref: UMLS:C4015695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:864132"} is_a: MONDO:0019171 {source="OMIM:616249", source="Orphanet:101016-prototype"} ! familial long QT syndrome intersection_of: MONDO:0019171 ! familial long QT syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1445 ! CALM2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1445 relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110656", source="OMIM:616249", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1445 {source="MONDO:mim2gene_medgen"} ! CALM2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1445 {source="OMIM:616249"} [Term] id: MONDO:0014551 @@ -335824,7 +333865,6 @@ xref: MEDGEN:906874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616255 {source="MONDO:equivalentTo"} xref: UMLS:C4225399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906874"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7944 {source="MONDO:mim2gene_medgen"} ! NPR2 [Term] id: MONDO:0014552 @@ -335849,7 +333889,6 @@ is_a: MONDO:0018921 {source="DC-OMIM:616258", source="OMIM:616258"} ! Meckel syn is_a: MONDO:0020022 ! central nervous system malformation is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19181 {source="MONDO:mim2gene_medgen"} ! KIF14 [Term] id: MONDO:0014553 @@ -335863,7 +333902,7 @@ xref: MEDGEN:864147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616260 {source="MONDO:equivalentTo"} xref: UMLS:C4015710 {source="MEDGEN:864147", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21150 {source="MONDO:mim2gene_medgen"} ! RNF125 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21150 {source="OMIM:616260"} [Term] id: MONDO:0014554 @@ -335903,7 +333942,6 @@ xref: Orphanet:263548 {source="MONDO:equivalentTo", source="OMIM:616265"} xref: UMLS:C4015729 {source="MEDGEN:864166", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010033 {source="Orphanet:263548"} ! generalized peeling skin syndrome is_a: MONDO:0019347 {source="MONDO:Redundant", source="OMIM:616265", source="Orphanet:263548/inferred"} ! peeling skin syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15993 {source="MONDO:mim2gene_medgen"} ! CHST8 [Term] id: MONDO:0014556 @@ -335929,7 +333967,6 @@ xref: Orphanet:562528 {source="MONDO:equivalentTo"} xref: UMLS:C4225398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907234"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19082 {source="MONDO:mim2gene_medgen"} ! NALCN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -335956,7 +333993,6 @@ xref: UMLS:C4225397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020047 {source="EFO:0009016", source="Orphanet:459033"} ! autosomal recessive syndromic cerebellar ataxia is_a: MONDO:0020127 {source="Orphanet:459033"} ! hereditary peripheral neuropathy is_a: MONDO:0044807 {source="MONDO:0018265-obsoleted"} ! inherited dystonia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9154 {source="MONDO:mim2gene_medgen"} ! PNKP property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13111/ataxia-oculomotor-apraxia-type-4" xsd:anyURI {source="GARD:0013111"} [Term] @@ -335995,7 +334031,7 @@ is_a: MONDO:0015159 {source="Orphanet:457193"} ! multiple congenital anomalies/d is_a: MONDO:0015338 {source="Orphanet:457193"} ! syndromic craniosynostosis relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070062", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13013 {source="MONDO:mim2gene_medgen"} ! KAT6A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13013 {source="OMIM:616268"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -336022,7 +334058,7 @@ xref: UMLS:C4225395 {source="MEDGEN:895952", source="MONDO:equivalentTo", source is_a: MONDO:0005395 {source="Orphanet:457212"} ! movement disorder is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:457212", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31399 {source="MONDO:mim2gene_medgen"} ! SLC6A17 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31399 {source="OMIM:616269"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -336051,8 +334087,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0015047 {source="Orphanet:100031/btnt"} ! amelogenesis imperfecta type 1 is_a: MONDO:0019507 {source="DOID:0110065", source="MONDO:Redundant", source="OMIM:616270"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/452 ! AMBN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/452 {source="MONDO:mim2gene_medgen"} ! AMBN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/452 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/452 {source="OMIM:616270"} [Term] id: MONDO:0014561 @@ -336086,7 +334122,6 @@ xref: SCTID:764860006 {source="MONDO:equivalentTo"} xref: UMLS:C5676893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1810214"} is_a: MONDO:0017359 {source="DC-OMIM:616271", source="DOID:0110003", source="EFO:0009014", source="MONDO:Redundant", source="OMIM:616271", source="Orphanet:445038"} ! 3-methylglutaconic aciduria relationship: disease_has_feature MONDO:0005066 ! metabolic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30664 {source="MONDO:mim2gene_medgen"} ! CLPB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -336110,7 +334145,6 @@ xref: OMIM:616276 {source="Orphanet:457185/e", source="MONDO:equivalentTo", sour xref: Orphanet:457185 {source="MONDO:equivalentTo"} xref: UMLS:C5568562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799985"} is_a: MONDO:0018151 {source="DC-OMIM:616276", source="DOID:0070244", source="OMIM:616276", source="Orphanet:457185"} ! coenzyme Q10 deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19693 {source="MONDO:mim2gene_medgen"} ! COQ4 [Term] id: MONDO:0014563 @@ -336135,7 +334169,7 @@ xref: Orphanet:653880 {source="MONDO:equivalentTo"} xref: UMLS:C4225391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902729"} is_a: MONDO:0044970 {source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014563 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3151 {source="MONDO:mim2gene_medgen"} ! ECHS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3151 {source="OMIM:616277"} [Term] id: MONDO:0014564 @@ -336159,9 +334193,9 @@ xref: UMLS:C4225390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018841 {source="DC-OMIM:616278", source="DOID:0111066", source="MONDO:Redundant", source="OMIM:616278"} ! congenital bile acid synthesis defect is_a: MONDO:0100372 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal transporter intersection_of: MONDO:0018841 ! congenital bile acid synthesis defect -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/67 ! ABCD3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/67 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014564 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/67 {source="MONDO:mim2gene_medgen"} ! ABCD3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/67 {source="OMIM:616278"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI [Term] @@ -336187,7 +334221,6 @@ is_a: MONDO:0005129 {source="DOID:0110259", source="MONDO:DOID", source="MONDO:R is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14304 ! UNC45B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14304 {source="MONDO:mim2gene_medgen"} ! UNC45B [Term] id: MONDO:0014566 @@ -336221,7 +334254,6 @@ is_a: MONDO:0015626 {source="DOID:0110173/inferred", source="MONDO:Redundant", s is_a: MONDO:0018993 {source="DOID:0110173", source="MONDO:Redundant", source="Orphanet:397735"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6898 ! MARS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6898 {source="MONDO:mim2gene_medgen"} ! MARS1 [Term] id: MONDO:0014567 @@ -336255,7 +334287,7 @@ is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153"} ! complex h is_a: MONDO:0019064 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014567 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:477673", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18062 {source="MONDO:mim2gene_medgen"} ! GPT2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18062 {source="OMIM:616281"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -336288,7 +334320,7 @@ xref: Orphanet:444099 {source="MONDO:equivalentTo", source="DOID:0110818"} xref: UMLS:C5568981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800404"} is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110818", source="MONDO:Redundant", source="OMIM:616282", source="Orphanet:444099/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18540 {source="MONDO:mim2gene_medgen"} ! CPT1C +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18540 {source="OMIM:616282"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI [Term] @@ -336312,7 +334344,6 @@ is_a: MONDO:0017436 {source="DC-OMIM:616286", source="MONDO:Redundant", source=" intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8011 ! CNTNAP1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8011 {source="MONDO:mim2gene_medgen"} ! CNTNAP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -336334,9 +334365,9 @@ xref: Orphanet:2680 {source="OMIM:616287"} xref: UMLS:C4225385 {source="MEDGEN:896058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017436 {source="DC-OMIM:616287", source="MONDO:Redundant", source="OMIM:616287"} ! lethal congenital contracture syndrome intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/237 ! ADCY6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/237 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/237 {source="MONDO:mim2gene_medgen"} ! ADCY6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/237 {source="OMIM:616287"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -336355,7 +334386,6 @@ xref: MEDGEN:898858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616289 {source="MONDO:equivalentTo"} xref: UMLS:C4225384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:898858"} is_a: MONDO:0043878 {source="MONDO:Redundant", source="OMIM:616289"} ! hereditary optic atrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/118 {source="MONDO:mim2gene_medgen"} ! ACO2 [Term] id: MONDO:0014572 @@ -336382,7 +334412,7 @@ xref: OMIM:616291 {source="DOID:0080065", source="MONDO:equivalentTo", source="O xref: Orphanet:448251 {source="MONDO:equivalentTo"} xref: UMLS:C4225383 {source="MEDGEN:898996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015244 {source="DOID:0080065", source="OMIM:616291"} ! autosomal recessive cerebellar ataxia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11071 {source="MONDO:mim2gene_medgen"} ! SLC9A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11071 {source="OMIM:616291"} [Term] id: MONDO:0014573 @@ -336405,8 +334435,8 @@ xref: UMLS:C4225382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016085 {source="DC-OMIM:616294", source="MONDO:Redundant", source="OMIM:616294"} ! Cole-Carpenter syndrome is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0016085 ! Cole-Carpenter syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10706 ! SEC24D -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10706 {source="MONDO:mim2gene_medgen"} ! SEC24D +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10706 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10706 {source="OMIM:616294"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -336431,7 +334461,7 @@ xref: UMLS:C4225381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0002254 {source="MONDO:0008388"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1515 {source="MONDO:mim2gene_medgen"} ! CAST +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1515 {source="OMIM:616295"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -336456,7 +334486,6 @@ is_a: MONDO:0008429 {source="MONDO:Redundant", source="OMIM:616298", source="Orp is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0008429 ! Singleton-Merten dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19102 ! RIGI -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19102 {source="MONDO:mim2gene_medgen"} ! RIGI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -336477,7 +334506,7 @@ xref: OMIM:616299 {source="Orphanet:401862", source="MONDO:equivalentTo", source xref: Orphanet:401862 {source="MONDO:equivalentTo", source="OMIM:616299"} xref: UMLS:C4225379 {source="MEDGEN:904073", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018424 {source="Orphanet:401862"} ! inherited lipoic acid biosynthesis defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29569 {source="MONDO:mim2gene_medgen"} ! LIPT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29569 {source="OMIM:616299"} [Term] id: MONDO:0014577 @@ -336496,7 +334525,6 @@ xref: OMIM:616300 {source="DOID:0110093", source="MONDO:equivalentTo"} xref: Orphanet:474 {source="OMIM:616300"} xref: UMLS:C4225378 {source="MONDO:equivalentTo", source="MEDGEN:898712", source="MONDO:MEDGEN"} is_a: MONDO:0018770 {source="DOID:0110093", source="OMIM:616300"} ! Jeune syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26690 {source="MONDO:mim2gene_medgen"} ! CEP120 [Term] id: MONDO:0014578 @@ -336521,7 +334549,6 @@ is_a: MONDO:0018940 {source="DOID:0110674", source="MONDO:Redundant", source="OM is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6696 ! LRP4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6696 {source="MONDO:mim2gene_medgen"} ! LRP4 [Term] id: MONDO:0014579 @@ -336545,7 +334572,6 @@ is_a: MONDO:0017842 {source="DC-OMIM:616307", source="MONDO:Redundant", source=" intersection_of: MONDO:0017842 ! Senior-Loken syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18340 ! WDR19 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616307"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18340 {source="MONDO:mim2gene_medgen"} ! WDR19 [Term] id: MONDO:0014580 @@ -336575,7 +334601,6 @@ intersection_of: MONDO:0015802 ! autosomal dominant non-syndromic intellectual d intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3010 ! DPP6 relationship: excluded_subClassOf MONDO:0007988 {source="Orphanet:2514/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant primary microcephaly relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3010 {source="MONDO:mim2gene_medgen"} ! DPP6 [Term] id: MONDO:0014581 @@ -336603,7 +334628,6 @@ xref: UMLS:C4225374 {source="MEDGEN:908185", source="MONDO:equivalentTo", source is_a: MONDO:0018940 {source="DOID:0110681", source="MONDO:Redundant", source="OMIM:616313"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1961 {source="MONDO:mim2gene_medgen"} ! CHRNB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -336626,7 +334650,6 @@ xref: UMLS:C4225373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018940 {source="DOID:0110680", source="MONDO:Redundant", source="OMIM:616314"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1961 {source="MONDO:mim2gene_medgen"} ! CHRNB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -336650,7 +334673,6 @@ xref: UMLS:C4225372 {source="MEDGEN:898378", source="MONDO:equivalentTo", source is_a: MONDO:0018940 {source="DOID:0110666", source="MONDO:Redundant", source="OMIM:616321"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1965 {source="MONDO:mim2gene_medgen"} ! CHRND property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -336674,7 +334696,6 @@ xref: UMLS:C4225371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018940 {source="DOID:0110665", source="MONDO:Redundant", source="OMIM:616322"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1965 {source="MONDO:mim2gene_medgen"} ! CHRND property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -336698,7 +334719,6 @@ xref: UMLS:C4225370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018940 {source="DOID:0110664", source="MONDO:Redundant", source="OMIM:616323"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1965 {source="MONDO:mim2gene_medgen"} ! CHRND property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -336722,7 +334742,6 @@ is_a: MONDO:0018940 {source="DOID:0110677", source="MONDO:Redundant", source="OM is_a: MONDO:0020344 {source="MONDO:Redundant", source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome is_a: MONDO:1040021 {source="https://orcid.org/0000-0002-9698-992X"} ! congenital myasthenic syndrome 4 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1966 {source="MONDO:mim2gene_medgen"} ! CHRNE property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -336749,7 +334768,6 @@ is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital mya intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7525 ! MUSK relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7525 {source="MONDO:mim2gene_medgen"} ! MUSK property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -336784,7 +334802,6 @@ is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital mya intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9863 ! RAPSN relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9863 {source="MONDO:mim2gene_medgen"} ! RAPSN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -336808,7 +334825,6 @@ xref: UMLS:C4225365 {source="MEDGEN:897640", source="MONDO:equivalentTo", source is_a: MONDO:0018911 {source="DC-OMIM:616329", source="DOID:0111110", source="MONDO:Redundant"} ! maturity-onset diabetes of the young intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6257 ! KCNJ11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6257 {source="MONDO:mim2gene_medgen"} ! KCNJ11 [Term] id: MONDO:0014590 @@ -336833,9 +334849,9 @@ xref: Orphanet:98914 {source="OMIM:616330"} xref: UMLS:C4225364 {source="MEDGEN:906793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018940 {source="DOID:0110683", source="MONDO:Redundant", source="OMIM:616330"} ! congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11132 ! SNAP25 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11132 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11132 {source="MONDO:mim2gene_medgen"} ! SNAP25 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11132 {source="OMIM:616330"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -336862,8 +334878,8 @@ xref: UMLS:C4225363 {source="MEDGEN:897039", source="MONDO:equivalentTo", source is_a: MONDO:0008389 {source="MONDO:Redundant", source="Orphanet:3107/btnt"} ! autosomal dominant Robinow syndrome is_a: MONDO:0019978 {source="DOID:0060765", source="MONDO:Redundant", source="OMIM:616331"} ! Robinow syndrome intersection_of: MONDO:0008389 ! autosomal dominant Robinow syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3084 ! DVL1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3084 {source="MONDO:mim2gene_medgen"} ! DVL1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3084 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3084 {source="OMIM:616331"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -336887,8 +334903,8 @@ xref: Orphanet:2518 {source="OMIM:616335"} xref: UMLS:C4225362 {source="MEDGEN:902924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000181 {source="MONDO:Redundant", source="OMIM:616335"} ! microcephaly and chorioretinopathy intersection_of: MONDO:0000181 ! microcephaly and chorioretinopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16691 ! TUBGCP4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16691 {source="MONDO:mim2gene_medgen"} ! TUBGCP4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16691 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16691 {source="OMIM:616335"} [Term] id: MONDO:0014593 @@ -336914,7 +334930,6 @@ is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset e is_a: MONDO:0100062 {source="DC-OMIM:616339", source="MONDO:Redundant", source="OMIM:616339"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20 ! AARS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20 {source="MONDO:mim2gene_medgen"} ! AARS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -336940,8 +334955,8 @@ xref: OMIM:616340 {source="DOID:0110588", source="MONDO:equivalentTo"} xref: UMLS:C4084712 {source="MEDGEN:900413", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019587 {source="DC-OMIM:616340", source="DOID:0110588", source="MONDO:Redundant", source="OMIM:616340"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15761 ! OSBPL2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15761 {source="MONDO:mim2gene_medgen"} ! OSBPL2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15761 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15761 {source="OMIM:616340"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -336970,8 +334985,8 @@ is_a: MONDO:0016022 {source="Orphanet:1935/btnt"} ! early myoclonic encephalopat is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome is_a: MONDO:0100062 {source="DC-OMIM:616341", source="DOID:0080465", source="MONDO:Redundant", source="OMIM:616341"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11142 ! SIK1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11142 {source="MONDO:mim2gene_medgen"} ! SIK1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11142 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11142 {source="OMIM:616341"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -336987,7 +335002,7 @@ xref: MEDGEN:895680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616342 {source="MONDO:equivalentTo"} xref: UMLS:C4225359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895680"} is_a: MONDO:0018838 {source="DC-OMIM:616342", source="DOID:0112231", source="OMIM:616342"} ! lissencephaly spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1774 {source="MONDO:mim2gene_medgen"} ! CDK5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1774 {source="OMIM:616342"} [Term] id: MONDO:0014597 @@ -337013,8 +335028,8 @@ xref: UMLS:C4225358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003778 {source="DC-OMIM:616345", source="DOID:0111969", source="MONDO:Redundant"} ! inborn error of immunity is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003778 ! inborn error of immunity -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6122 ! IRF7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6122 {source="MONDO:mim2gene_medgen"} ! IRF7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6122 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6122 {source="OMIM:616345"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7513" xsd:anyURI [Term] @@ -337044,7 +335059,6 @@ xref: UMLS:C4225357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016532 {source="Orphanet:2382/btnt"} ! Lennox-Gastaut syndrome is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:616346", source="MONDO:Redundant", source="OMIM:616346"} ! developmental and epileptic encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2972 {source="MONDO:mim2gene_medgen"} ! DNM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7641" xsd:anyURI @@ -337072,9 +335086,9 @@ xref: OMIM:616351 {source="DOID:0070064", source="MONDO:equivalentTo"} xref: UMLS:C4225156 {source="MEDGEN:907277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015802 {source="DC-OMIM:616351", source="DOID:0070064", source="MONDO:Redundant", source="OMIM:616351"} ! autosomal dominant non-syndromic intellectual disability intersection_of: MONDO:0015802 ! autosomal dominant non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2205 ! CERT1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2205 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2205 {source="MONDO:mim2gene_medgen"} ! CERT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2205 {source="OMIM:616351"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -337101,7 +335115,6 @@ xref: UMLS:C4225356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015780 {source="DOID:0070024", source="MONDO:Redundant", source="OMIM:616353"} ! dyskeratosis congenita intersection_of: MONDO:0015780 ! dyskeratosis congenita intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8609 ! PARN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8609 {source="MONDO:mim2gene_medgen"} ! PARN [Term] id: MONDO:0014601 @@ -337133,10 +335146,10 @@ is_a: MONDO:0015159 {source="Orphanet:397709"} ! multiple congenital anomalies/d is_a: MONDO:0015244 {source="DOID:0080066", source="MONDO:Redundant", source="OMIM:616354"} ! autosomal recessive cerebellar ataxia is_a: MONDO:0020022 ! central nervous system malformation intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14977 ! SNX14 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14977 relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397709", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14977 {source="MONDO:mim2gene_medgen"} ! SNX14 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14977 {source="OMIM:616354"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -337169,7 +335182,7 @@ is_a: MONDO:0015159 {source="Orphanet:457279"} ! multiple congenital anomalies/d is_a: MONDO:0957553 {source="OMIM:616355"} ! Houge-Janssens syndrome relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070065", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9312 {source="MONDO:mim2gene_medgen"} ! PPP2R5D +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9312 {source="OMIM:616355"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6531" xsd:anyURI @@ -337198,8 +335211,8 @@ xref: OMIM:616357 {source="DOID:0110566", source="MONDO:equivalentTo"} xref: UMLS:C4084708 {source="MEDGEN:896665", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019587 {source="DC-OMIM:616357", source="DOID:0110566", source="MONDO:Redundant", source="OMIM:616357"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2418 ! CRYM -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2418 {source="MONDO:mim2gene_medgen"} ! CRYM +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2418 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2418 {source="OMIM:616357"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -337226,7 +335239,6 @@ is_a: MONDO:0008199 {source="DOID:0111251", source="MONDO:Redundant", source="Or intersection_of: MONDO:0008199 ! late-onset Parkinson disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30343 ! DNAJC13 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30343 {source="MONDO:mim2gene_medgen"} ! DNAJC13 [Term] id: MONDO:0014605 @@ -337258,7 +335270,7 @@ is_a: MONDO:0957553 {source="OMIM:616362"} ! Houge-Janssens syndrome relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:457284", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070066", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9302 {source="MONDO:mim2gene_medgen"} ! PPP2R1A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9302 {source="OMIM:616362"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6531" xsd:anyURI [Term] @@ -337295,7 +335307,7 @@ is_a: MONDO:0100172 {source="OMIM:616364"} ! intellectual disability, autosomal relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014606 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070067", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18801 {source="MONDO:mim2gene_medgen"} ! POGZ +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18801 {source="OMIM:616364"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -337320,8 +335332,8 @@ xref: UMLS:C4225350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:616366", source="MONDO:Redundant", source="OMIM:616366"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6220 ! KCNA2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6220 {source="MONDO:mim2gene_medgen"} ! KCNA2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6220 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6220 {source="OMIM:616366"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -337348,7 +335360,6 @@ is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="htt is_a: MONDO:0002254 {source="DOID:0060365", source="MONDO:Redundant", source="MONDO:indirect"} ! syndromic disease is_a: MONDO:0015483 {source="Orphanet:443995"} ! mandibulofacial dysostosis is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3179 {source="MONDO:mim2gene_medgen"} ! EDNRA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -337380,7 +335391,7 @@ relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", sourc relationship: excluded_subClassOf MONDO:0005267 {source="MONDO:0015506-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! heart disorder relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:444077", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity relationship: excluded_subClassOf MONDO:0019054 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital limb malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17869 {source="MONDO:mim2gene_medgen"} ! AFF4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17869 {source="OMIM:616368"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -337417,8 +335428,8 @@ is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disorder is_a: MONDO:0017338 {source="DOID:0080136", source="MONDO:Redundant", source="OMIM:616370", source="Orphanet:457406"} ! fatal multiple mitochondrial dysfunctions syndrome is_a: MONDO:0019046 {source="Orphanet:457406"} ! leukodystrophy intersection_of: MONDO:0017338 ! fatal multiple mitochondrial dysfunctions syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19857 ! ISCA2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19857 {source="MONDO:mim2gene_medgen"} ! ISCA2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19857 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19857 {source="OMIM:616370"} [Term] id: MONDO:0014612 @@ -337442,7 +335453,6 @@ is_a: MONDO:0000148 {source="DC-OMIM:616371", source="OMIM:616371"} ! pulmonary intersection_of: MONDO:0000148 ! pulmonary fibrosis and/or bone marrow failure, telomere-related intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8609 ! PARN relationship: excluded_subClassOf MONDO:0008345 {source="Orphanet:2032/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete idiopathic pulmonary fibrosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8609 {source="MONDO:mim2gene_medgen"} ! PARN [Term] id: MONDO:0014613 @@ -337467,7 +335477,6 @@ is_a: MONDO:0800467 {source="PMID:20301779", source="https://clinicalgenome.org/ intersection_of: MONDO:0000148 ! pulmonary fibrosis and/or bone marrow failure, telomere-related intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15888 ! RTEL1 relationship: excluded_subClassOf MONDO:0008345 {source="Orphanet:2032/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete idiopathic pulmonary fibrosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15888 {source="MONDO:mim2gene_medgen"} ! RTEL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI [Term] @@ -337491,7 +335500,6 @@ intersection_of: MONDO:0016293 ! congenital stationary night blindness intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4393 ! GNAT1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4393 {source="MONDO:mim2gene_medgen"} ! GNAT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -337512,7 +335520,6 @@ is_a: MONDO:0002470 {source="DC-OMIM:616390", source="DOID:0111869", source="MON is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:616390"} ! trichothiodystrophy intersection_of: MONDO:0002470 ! photosensitive trichothiodystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3435 ! ERCC3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3435 {source="MONDO:mim2gene_medgen"} ! ERCC3 [Term] id: MONDO:0014616 @@ -337555,7 +335562,6 @@ is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:616393"} ! intellect intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3192 ! EEF1A2 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3192 {source="MONDO:mim2gene_medgen"} ! EEF1A2 [Term] id: MONDO:0014618 @@ -337579,7 +335585,6 @@ xref: UMLS:C4225342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:616394", source="DOID:0110363", source="MONDO:Redundant", source="OMIM:616394"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30391 ! IFT172 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30391 {source="MONDO:mim2gene_medgen"} ! IFT172 [Term] id: MONDO:0014619 @@ -337600,8 +335605,8 @@ xref: UMLS:C4017171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002470 {source="DC-OMIM:616395", source="DOID:0111871", source="MONDO:Redundant"} ! photosensitive trichothiodystrophy is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:616395"} ! trichothiodystrophy intersection_of: MONDO:0002470 ! photosensitive trichothiodystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21157 ! GTF2H5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21157 {source="MONDO:mim2gene_medgen"} ! GTF2H5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21157 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21157 {source="OMIM:616395"} [Term] id: MONDO:0014620 @@ -337624,8 +335629,8 @@ xref: UMLS:C4225341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000903 {source="DOID:0090036", source="MONDO:Redundant"} ! myoclonus-dystonia syndrome is_a: MONDO:0044807 {source="DOID:0090036/inferred", source="MONDO:Redundant", source="OMIM:616398"} ! inherited dystonia intersection_of: MONDO:0000903 ! myoclonus-dystonia syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25705 ! KCTD17 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25705 {source="MONDO:mim2gene_medgen"} ! KCTD17 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25705 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25705 {source="OMIM:616398"} [Term] id: MONDO:0014621 @@ -337648,7 +335653,6 @@ xref: UMLS:C4225340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015263 {source="DOID:0110226", source="MONDO:Redundant", source="OMIM:616399"} ! Brugada syndrome intersection_of: MONDO:0015263 ! Brugada syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6239 ! KCND3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6239 {source="MONDO:mim2gene_medgen"} ! KCND3 [Term] id: MONDO:0014622 @@ -337672,7 +335676,6 @@ is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="htt is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0017672 {source="https://orcid.org/0000-0001-5208-3432"} ! focal palmoplantar keratoderma relationship: excluded_subClassOf MONDO:0006588 {source="DC-OMIM:616400", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nonepidermolytic palmoplantar keratoderma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18084 {source="MONDO:mim2gene_medgen"} ! TRPV3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -337694,8 +335697,8 @@ xref: OMIM:616402 {source="MONDO:equivalentTo"} xref: UMLS:C4225338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906798"} is_a: MONDO:0016660 {source="DC-OMIM:616402", source="DOID:0070279", source="MONDO:Redundant", source="OMIM:616402"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25403 ! SASS6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25403 {source="MONDO:mim2gene_medgen"} ! SASS6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25403 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25403 {source="OMIM:616402"} [Term] id: MONDO:0014624 @@ -337746,7 +335749,6 @@ is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset e is_a: MONDO:0100062 {source="DC-OMIM:616409", source="MONDO:Redundant", source="OMIM:616409"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3192 ! EEF1A2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3192 {source="MONDO:mim2gene_medgen"} ! EEF1A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -337769,7 +335771,7 @@ xref: OMIM:616410 {source="Orphanet:458798", source="MONDO:equivalentTo", source xref: Orphanet:458798 {source="MONDO:equivalentTo"} xref: UMLS:C4225158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908281"} is_a: MONDO:0019793 {source="EFO:0009058", source="Orphanet:458798"} ! autosomal dominant cerebellar ataxia type III -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12335 {source="MONDO:mim2gene_medgen"} ! TRPC3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12335 {source="OMIM:616410"} [Term] id: MONDO:0014627 @@ -337800,7 +335802,6 @@ is_a: MONDO:0044807 {source="DOID:0090050/inferred", source="MONDO:Redundant", s intersection_of: MONDO:0044807 ! inherited dystonia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2213 ! COL6A3 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014627 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2213 {source="MONDO:mim2gene_medgen"} ! COL6A3 [Term] id: MONDO:0014628 @@ -337821,9 +335822,9 @@ xref: Orphanet:1980 {source="OMIM:616413"} xref: UMLS:C4225335 {source="MEDGEN:901404", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:616413", source="Orphanet:1980/btnt"} ! bilateral striopallidodentate calcinosis intersection_of: MONDO:0008947 ! bilateral striopallidodentate calcinosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12827 ! XPR1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12827 relationship: has_characteristic MONDO:0700005 ! idiopathic -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12827 {source="MONDO:mim2gene_medgen"} ! XPR1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12827 {source="OMIM:616413"} [Term] id: MONDO:0014629 @@ -337853,7 +335854,7 @@ is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:444092", source= is_a: MONDO:0957408 {source="PMID:37161741"} ! type 1 interferonopathy of childhood relationship: excluded_subClassOf MONDO:0017020 {source="Orphanet:444092", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:444092", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2230 {source="MONDO:mim2gene_medgen"} ! COPA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2230 {source="OMIM:616414"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI [Term] @@ -337878,7 +335879,7 @@ xref: Orphanet:454840 {source="MONDO:equivalentTo"} xref: UMLS:C4225157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902388"} is_a: MONDO:0016362 {source="Orphanet:454840"} ! attenuated familial adenomatous polyposis is_a: MONDO:0021055 {source="DOID:0080411", source="OMIM:616415"} ! classic familial adenomatous polyposis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8028 {source="MONDO:mim2gene_medgen"} ! NTHL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8028 {source="OMIM:616415"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5374" xsd:anyURI [Term] @@ -337914,8 +335915,8 @@ xref: OMIM:616420 {source="MONDO:equivalentTo", source="DOID:0060788"} xref: UMLS:C4225332 {source="MEDGEN:904191", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019046 {source="DOID:0060788", source="DOID:0060788/inferred", source="MONDO:Redundant", source="OMIM:616420"} ! leukodystrophy intersection_of: MONDO:0019046 ! leukodystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30262 ! PYCR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30262 {source="MONDO:mim2gene_medgen"} ! PYCR2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30262 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30262 {source="OMIM:616420"} [Term] id: MONDO:0014633 @@ -337932,7 +335933,7 @@ xref: NORD:2035 {source="MONDO:NORD"} xref: OMIM:616421 {source="MONDO:equivalentTo"} xref: Orphanet:1942 {source="OMIM:616421"} is_a: MONDO:0016025 {source="Orphanet:1942/btnt"} ! myoclonic-astatic epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11042 {source="MONDO:mim2gene_medgen"} ! SLC6A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11042 {source="OMIM:616421"} [Term] id: MONDO:0014634 @@ -337955,7 +335956,6 @@ xref: Orphanet:251510 {source="OMIM:616425"} xref: UMLS:C4225331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897538"} is_a: MONDO:0010765 {source="DOID:0111775", source="OMIM:616425", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11204 {source="MONDO:mim2gene_medgen"} ! SOX9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -337978,7 +335978,6 @@ xref: UMLS:C4225330 {source="MEDGEN:909133", source="MONDO:equivalentTo", source is_a: MONDO:0000170 {source="MONDO:0014635/inferred", source="MONDO:Redundant", source="OMIM:616428", source="Orphanet:98938/btnt"} ! microphthalmia, isolated, with coloboma intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9922 ! RBP4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9922 {source="MONDO:mim2gene_medgen"} ! RBP4 [Term] id: MONDO:0014636 @@ -338005,7 +336004,6 @@ is_a: MONDO:0000732 {source="DC-OMIM:616430", source="DOID:0111468", source="MON is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25133 ! MARS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25133 {source="MONDO:mim2gene_medgen"} ! MARS2 [Term] id: MONDO:0014637 @@ -338030,7 +336028,7 @@ xref: UMLS:C4225328 {source="MEDGEN:901370", source="MONDO:equivalentTo", source is_a: MONDO:0021094 {source="OMIM:616433"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014637 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:447737", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2988 {source="MONDO:mim2gene_medgen"} ! DOCK2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2988 {source="OMIM:616433"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12653/dock2-deficiency" xsd:anyURI {source="GARD:0012653"} [Term] @@ -338056,8 +336054,8 @@ xref: OMIM:616435 {source="DOID:0111081", source="MONDO:equivalentTo"} xref: UMLS:C4084840 {source="MEDGEN:896157", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019391 {source="DC-OMIM:616435", source="DOID:0111081", source="MONDO:Redundant", source="OMIM:616435"} ! Fanconi anemia intersection_of: MONDO:0019391 ! Fanconi anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25009 ! UBE2T -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25009 {source="MONDO:mim2gene_medgen"} ! UBE2T +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25009 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25009 {source="OMIM:616435"} [Term] id: MONDO:0014639 @@ -338078,7 +336076,6 @@ xref: OMIM:616436 {source="DOID:0060751", source="MONDO:equivalentTo"} xref: Orphanet:101046 {source="OMIM:616436", source="DOID:0060751"} xref: UMLS:C4225327 {source="MEDGEN:907609", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005115 {source="DOID:0060751", source="OMIM:616436"} ! temporal lobe epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9957 {source="MONDO:mim2gene_medgen"} ! RELN [Term] id: MONDO:0014640 @@ -338105,7 +336102,6 @@ is_a: MONDO:0017161 {source="OMIM:616437", source="Orphanet:275872/btnt", source is_a: MONDO:0030923 {source="OMIM:616437"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis is_a: MONDO:0800464 {source="PMID:33145792", source="https://clinicalgenome.org/affiliation/40060/"} ! SQSTM1-related multisystem proteinopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014640 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="MONDO:mim2gene_medgen"} ! SQSTM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI [Term] @@ -338130,7 +336126,6 @@ is_a: MONDO:0005144 {source="OMIM:616439"} ! familial amyotrophic lateral sclero is_a: MONDO:0017161 {source="OMIM:616439", source="Orphanet:275872/btnt", source="https://orcid.org/0000-0002-6601-2165"} ! frontotemporal dementia with motor neuron disease is_a: MONDO:0030923 {source="OMIM:616439"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014641 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11584 {source="MONDO:mim2gene_medgen"} ! TBK1 [Term] id: MONDO:0014642 @@ -338150,8 +336145,8 @@ xref: OMIM:616445 {source="MONDO:equivalentTo"} xref: UMLS:C4225324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906897"} is_a: MONDO:0015279 {source="OMIM:616445"} ! chronic mucocutaneous candidiasis intersection_of: MONDO:0015279 ! chronic mucocutaneous candidiasis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18358 ! IL17RC -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18358 {source="MONDO:mim2gene_medgen"} ! IL17RC +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18358 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18358 {source="OMIM:616445"} [Term] id: MONDO:0014643 @@ -338174,7 +336169,7 @@ xref: UMLS:C4225323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015159 {source="Orphanet:464738"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464738", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28845 {source="MONDO:mim2gene_medgen"} ! MED25 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28845 {source="OMIM:616449"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -338206,7 +336201,6 @@ is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex h is_a: MONDO:0019064 {source="DOID:0110819", source="MONDO:Redundant", source="OMIM:616451", source="Orphanet:468661/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27302 ! IBA57 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27302 {source="MONDO:mim2gene_medgen"} ! IBA57 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -338231,7 +336225,6 @@ xref: UMLS:C4551967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014645 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:464336", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16393 {source="MONDO:mim2gene_medgen"} ! CARD11 [Term] id: MONDO:0014646 @@ -338253,7 +336246,6 @@ xref: UMLS:C4225321 {source="MEDGEN:897567", source="MONDO:equivalentTo", source is_a: MONDO:0000200 {source="MONDO:Redundant", source="OMIM:616455", source="Orphanet:3473/btnt"} ! Zimmermann-Laband syndrome intersection_of: MONDO:0000200 ! Zimmermann-Laband syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/854 ! ATP6V1B2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/854 {source="MONDO:mim2gene_medgen"} ! ATP6V1B2 [Term] id: MONDO:0014647 @@ -338286,7 +336278,7 @@ is_a: MONDO:0005500 {source="DC-OMIM:616457"} ! congenital disorder of glycosyla is_a: MONDO:0017749 {source="Orphanet:448010"} ! disorder of multiple glycosylation is_a: MONDO:0019238 {source="Orphanet:448010"} ! inborn disorder of pyrimidine metabolism is_a: MONDO:0100062 {source="DOID:0080419", source="OMIM:616457"} ! developmental and epileptic encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1424 {source="MONDO:mim2gene_medgen"} ! CAD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1424 {source="OMIM:616457"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -338302,7 +336294,7 @@ xref: MEDGEN:897610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616459 {source="MONDO:equivalentTo"} xref: UMLS:C4085595 {source="MEDGEN:897610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29812 {source="MONDO:mim2gene_medgen"} ! DCPS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29812 {source="OMIM:616459"} [Term] id: MONDO:0014649 @@ -338326,8 +336318,8 @@ xref: OMIM:616460 {source="MONDO:equivalentTo"} xref: UMLS:C4225319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906893"} is_a: MONDO:0019502 {source="DC-OMIM:616460", source="DOID:0081213", source="MONDO:Redundant", source="OMIM:616460"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26114 ! EDC3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26114 {source="MONDO:mim2gene_medgen"} ! EDC3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26114 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26114 {source="OMIM:616460"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -338348,7 +336340,7 @@ xref: OMIM:616461 {source="DOID:0060754", source="MONDO:equivalentTo"} xref: Orphanet:101046 {source="DOID:0060754"} xref: UMLS:C4225318 {source="MEDGEN:909158", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005115 {source="DOID:0060754", source="OMIM:616461"} ! temporal lobe epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4114 {source="MONDO:mim2gene_medgen"} ! GAL +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4114 {source="OMIM:616461"} [Term] id: MONDO:0014651 @@ -338369,7 +336361,6 @@ xref: UMLS:C4225317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018237 {source="DC-OMIM:616462", source="DOID:0060353", source="MONDO:Entailed", source="MONDO:Redundant"} ! acrofacial dysostosis intersection_of: MONDO:0018237 ! acrofacial dysostosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17264 ! POLR1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17264 {source="MONDO:mim2gene_medgen"} ! POLR1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -338393,7 +336384,6 @@ xref: UMLS:C4225316 {source="MEDGEN:902559", source="MONDO:equivalentTo", source is_a: MONDO:0019516 {source="DC-OMIM:616468", source="DOID:0111410", source="MONDO:Redundant", source="OMIM:616468"} ! exudative vitreoretinopathy intersection_of: MONDO:0019516 ! exudative vitreoretinopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20041 ! ZNF408 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20041 {source="MONDO:mim2gene_medgen"} ! ZNF408 [Term] id: MONDO:0014653 @@ -338416,7 +336406,6 @@ xref: UMLS:C4225315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:616469", source="DOID:0110395", source="MONDO:Redundant", source="OMIM:616469"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20041 ! ZNF408 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20041 {source="MONDO:mim2gene_medgen"} ! ZNF408 [Term] id: MONDO:0014654 @@ -338439,7 +336428,6 @@ is_a: MONDO:0000355 {source="DOID:0060948", source="MONDO:0014654/inferred", sou intersection_of: MONDO:0000355 ! Ullrich congenital muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2188 ! COL12A1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2188 {source="MONDO:mim2gene_medgen"} ! COL12A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -338472,8 +336460,8 @@ xref: UMLS:C4225312 {source="MEDGEN:901897", source="MONDO:equivalentTo", source is_a: MONDO:0000090 {source="DC-OMIM:616479", source="MONDO:Redundant", source="OMIM:616479"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions is_a: MONDO:0018002 {source="Orphanet:329336/btnt"} ! adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18466 ! RNASEH1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18466 {source="MONDO:mim2gene_medgen"} ! RNASEH1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18466 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18466 {source="OMIM:616479"} [Term] id: MONDO:0014657 @@ -338499,8 +336487,8 @@ xref: Orphanet:244 {source="OMIM:616481"} xref: UMLS:C4225311 {source="MEDGEN:896106", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:616481", source="DOID:0110603", source="MONDO:Redundant", source="OMIM:616481"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21054 ! RSPH3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21054 {source="MONDO:mim2gene_medgen"} ! RSPH3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21054 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21054 {source="OMIM:616481"} [Term] id: MONDO:0014658 @@ -338535,7 +336523,6 @@ relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0019275-obsoleted relationship: excluded_subClassOf MONDO:0018232 {source="Orphanet:85165", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with micromelia relationship: excluded_subClassOf MONDO:0019268 {source="MONDO:0019274-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epidermal disease relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:616482", source="Orphanet:85165"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3 relationship: seeAlso https://ghr.nlm.nih.gov/condition/saddan {source="DOID:0111158"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -338560,7 +336547,6 @@ xref: UMLS:C3809651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000023 {source="DC-OMIM:616483", source="MONDO:Redundant", source="OMIM:616483"} ! infantile liver failure intersection_of: MONDO:0000023 ! infantile liver failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15625 ! NBAS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15625 {source="MONDO:mim2gene_medgen"} ! NBAS [Term] id: MONDO:0014660 @@ -338578,7 +336564,7 @@ xref: OMIM:616486 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="OMIM:616486"} xref: UMLS:C4225310 {source="MEDGEN:895496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016660 {source="DC-OMIM:616486", source="DOID:0070277", source="OMIM:616486"} ! autosomal recessive primary microcephaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25897 {source="MONDO:mim2gene_medgen"} ! MFSD2A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25897 {source="OMIM:616486"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -338597,7 +336583,6 @@ xref: OMIM:616487 {source="MONDO:equivalentTo"} xref: UMLS:C4225309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906476"} is_a: MONDO:0003847 {source="OMIM:616487"} ! hereditary disease is_a: MONDO:0017610 {source="OMIM:616487"} ! epidermolysis bullosa simplex -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="MONDO:mim2gene_medgen"} ! PLEC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -338625,7 +336610,7 @@ xref: Orphanet:478664 {source="DOID:0070153", source="MONDO:equivalentTo"} xref: UMLS:C4225308 {source="MEDGEN:894363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015364 {source="DOID:0070153", source="OMIM:616488", source="Orphanet:478664/inferred"} ! hereditary sensory and autonomic neuropathy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13997 {source="MONDO:mim2gene_medgen"} ! PRDM12 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13997 {source="OMIM:616488"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -338642,7 +336627,7 @@ xref: MEDGEN:894912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616489 {source="MONDO:equivalentTo"} xref: UMLS:C4225307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:894912"} is_a: MONDO:0008394 {source="OMIM:616489", source="https://orcid.org/0000-0001-5208-3432"} ! Silver-Russell syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5466 {source="MONDO:mim2gene_medgen"} ! IGF2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5466 {source="OMIM:616489"} [Term] id: MONDO:0014664 @@ -338665,7 +336650,6 @@ xref: UMLS:C4084822 {source="MEDGEN:900119", source="MONDO:equivalentTo", source is_a: MONDO:0018772 {source="DC-OMIM:616490", source="DOID:0110992", source="MONDO:Redundant", source="OMIM:616490"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19960 ! KIAA0586 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19960 {source="MONDO:mim2gene_medgen"} ! KIAA0586 [Term] id: MONDO:0014665 @@ -338699,7 +336683,6 @@ is_a: MONDO:0015626 {source="DOID:0110178/inferred", source="MONDO:Redundant", s is_a: MONDO:0018993 {source="DOID:0110178", source="Orphanet:447964"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7632 ! NAGLU -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7632 {source="MONDO:mim2gene_medgen"} ! NAGLU [Term] id: MONDO:0014666 @@ -338725,7 +336708,6 @@ xref: UMLS:C4225305 {source="MEDGEN:897960", source="MONDO:equivalentTo", source is_a: MONDO:0019046 {source="DOID:0060792", source="DOID:0060792/inferred", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:616494"} ! leukodystrophy intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20194 ! POLR1C -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20194 {source="MONDO:mim2gene_medgen"} ! POLR1C property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI @@ -338750,8 +336732,8 @@ xref: Orphanet:1561 {source="OMIM:616500"} xref: UMLS:C4225154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903495"} is_a: MONDO:0015487 {source="DC-OMIM:616500", source="DOID:0080359", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy intersection_of: MONDO:0015487 ! fatal infantile encephalocardiomyopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33848 ! COA5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33848 {source="MONDO:mim2gene_medgen"} ! COA5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33848 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33848 {source="OMIM:616500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -338775,8 +336757,8 @@ xref: Orphanet:1561 {source="OMIM:616501"} xref: UMLS:C4225304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905398"} is_a: MONDO:0015487 {source="DC-OMIM:616501", source="DOID:0080360", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy intersection_of: MONDO:0015487 ! fatal infantile encephalocardiomyopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18025 ! COA6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18025 {source="MONDO:mim2gene_medgen"} ! COA6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18025 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18025 {source="OMIM:616501"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -338799,8 +336781,8 @@ xref: OMIM:616502 {source="MONDO:equivalentTo"} xref: UMLS:C4049066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:891534"} is_a: MONDO:0015993 {source="DOID:0081447", source="MONDO:Redundant", source="OMIM:616502"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28769 ! DRAM2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28769 {source="MONDO:mim2gene_medgen"} ! DRAM2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28769 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28769 {source="OMIM:616502"} [Term] id: MONDO:0014670 @@ -338819,9 +336801,9 @@ xref: OMIM:616503 {source="MONDO:equivalentTo"} xref: UMLS:C4225303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903881"} is_a: MONDO:0017436 {source="DC-OMIM:616503", source="MONDO:Redundant", source="OMIM:616503"} ! lethal congenital contracture syndrome intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13841 ! ADGRG6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13841 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13841 {source="MONDO:mim2gene_medgen"} ! ADGRG6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13841 {source="OMIM:616503"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -338851,7 +336833,6 @@ is_a: MONDO:0019551 {source="MONDO:Redundant", source="Orphanet:90120/btnt"} ! h intersection_of: MONDO:0019551 ! hereditary motor and sensory neuropathy type 6 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25198 ! SLC25A46 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014671 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25198 {source="MONDO:mim2gene_medgen"} ! SLC25A46 [Term] id: MONDO:0014672 @@ -338876,8 +336857,8 @@ xref: UMLS:C4225301 {source="MEDGEN:903845", source="MONDO:equivalentTo", source is_a: MONDO:0019019 {source="DC-OMIM:616507", source="DOID:0110338", source="MONDO:Redundant", source="OMIM:616507"} ! osteogenesis imperfecta is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0019019 ! osteogenesis imperfecta -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11219 ! SPARC -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11219 {source="MONDO:mim2gene_medgen"} ! SPARC +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11219 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11219 {source="OMIM:616507"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -338905,7 +336886,6 @@ is_a: MONDO:0005129 {source="DOID:0110267", source="MONDO:DOID", source="MONDO:R is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6708 ! LSS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6708 {source="MONDO:mim2gene_medgen"} ! LSS [Term] id: MONDO:0014674 @@ -338925,8 +336905,8 @@ xref: OMIM:616511 {source="MONDO:equivalentTo", source="DOID:0111111"} xref: UMLS:C4225299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908119"} is_a: MONDO:0018911 {source="DC-OMIM:616511", source="DOID:0111111", source="MONDO:Redundant"} ! maturity-onset diabetes of the young intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24035 ! APPL1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24035 {source="MONDO:mim2gene_medgen"} ! APPL1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24035 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24035 {source="OMIM:616511"} [Term] id: MONDO:0014675 @@ -338952,7 +336932,6 @@ xref: UMLS:C4225298 {source="MEDGEN:899775", source="MONDO:equivalentTo", source is_a: MONDO:0019588 {source="DC-OMIM:616515", source="DOID:0110465", source="MONDO:Redundant", source="OMIM:616515"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13872 ! RIPOR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13872 {source="MONDO:mim2gene_medgen"} ! RIPOR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -338978,7 +336957,6 @@ xref: Orphanet:98855 {source="OMIM:616516"} xref: UMLS:C2750035 {source="MEDGEN:413212", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016830 {source="DOID:0070248", source="MESH:C567633", source="MONDO:Redundant", source="OMIM:616516"} ! Emery-Dreifuss muscular dystrophy is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA [Term] id: MONDO:0014677 @@ -339001,9 +336979,9 @@ xref: UMLS:C4225297 {source="MEDGEN:904646", source="MONDO:equivalentTo", source is_a: MONDO:0018852 {source="DC-OMIM:616517", source="DOID:0110009", source="MONDO:Redundant"} ! achromatopsia is_a: MONDO:0100447 {source="https://clinicalgenome.org/affiliation/40072/"} ! ATF6-related retinopathy intersection_of: MONDO:0018852 ! achromatopsia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/791 ! ATF6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/791 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/791 {source="MONDO:mim2gene_medgen"} ! ATF6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/791 {source="OMIM:616517"} [Term] id: MONDO:0014678 @@ -339030,9 +337008,9 @@ xref: Orphanet:178469 {source="OMIM:616521"} xref: UMLS:C4225296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:909304"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:616521"} ! intellectual disability, autosomal dominant intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7623 ! MYT1L +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7623 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7623 {source="MONDO:mim2gene_medgen"} ! MYT1L +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7623 {source="OMIM:616521"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -339051,7 +337029,6 @@ xref: Orphanet:98889 {source="OMIM:616531"} xref: UMLS:C4225295 {source="MEDGEN:899982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020340 {source="Orphanet:98889/btnt"} ! bilateral perisylvian polymicrogyria is_a: MONDO:1040012 {source="PMID:35951779", source="https://www.clinicalgenome.org/affiliation/40020/"} ! PI4KA-related disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8983 {source="MONDO:mim2gene_medgen"} ! PI4KA [Term] id: MONDO:0014680 @@ -339072,11 +337049,11 @@ xref: OMIM:616532 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="OMIM:616532"} xref: UMLS:C4225294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:901850"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6118 ! IRF3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6118 intersection_of: predisposes_towards MONDO:0100198 ! Mendelian encephalopathy relationship: excluded_subClassOf MONDO:0000166 {source="OMIM:616532", source="https://orcid.org/0000-0001-5208-3432"} ! encephalopathy, acute, infection-induced relationship: excluded_subClassOf MONDO:0012521 {source="Orphanet:1930/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! herpes simplex encephalitis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6118 {source="MONDO:mim2gene_medgen"} ! IRF3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6118 {source="OMIM:616532"} relationship: predisposes_towards MONDO:0100198 {source="OMIM:616532", source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI @@ -339103,7 +337080,6 @@ is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or foll is_a: MONDO:0017896 {source="MONDO:Redundant", source="OMIM:616534"} ! familial nonmedullary thyroid carcinoma intersection_of: MONDO:0017896 ! familial nonmedullary thyroid carcinoma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3806 ! FOXE1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3806 {source="MONDO:mim2gene_medgen"} ! FOXE1 [Term] id: MONDO:0014682 @@ -339127,7 +337103,6 @@ is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or foll is_a: MONDO:0017896 {source="MONDO:Redundant", source="OMIM:616535"} ! familial nonmedullary thyroid carcinoma intersection_of: MONDO:0017896 ! familial nonmedullary thyroid carcinoma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4798 ! HABP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4798 {source="MONDO:mim2gene_medgen"} ! HABP2 [Term] id: MONDO:0014683 @@ -339147,7 +337122,6 @@ xref: Orphanet:370997 {source="MONDO:relatedTo", source="OMIM:616538"} xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:616538"} xref: UMLS:C4225291 {source="MEDGEN:902513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000171 {source="OMIM:616538", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2666 {source="MONDO:mim2gene_medgen"} ! DAG1 [Term] id: MONDO:0014684 @@ -339172,8 +337146,8 @@ xref: UMLS:C5567741 {source="MEDGEN:1799164", source="MONDO:equivalentTo", sourc is_a: MONDO:0000732 {source="DC-OMIM:616539", source="DOID:0111490", source="MONDO:Redundant", source="OMIM:616539"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23141 ! TRMT5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23141 {source="MONDO:mim2gene_medgen"} ! TRMT5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23141 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23141 {source="OMIM:616539"} [Term] id: MONDO:0014685 @@ -339202,7 +337176,6 @@ xref: UMLS:C4225289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020074 {source="DC-OMIM:616540", source="DOID:0111450", source="MONDO:Redundant", source="OMIM:616540", source="Orphanet:457265"} ! progressive myoclonus epilepsy intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6638 ! LMNB2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6638 {source="MONDO:mim2gene_medgen"} ! LMNB2 [Term] id: MONDO:0014686 @@ -339220,7 +337193,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12831 {source="MONDO:mim2gene_medgen"} ! XRCC4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12831 {source="OMIM:616541"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI @@ -339246,7 +337219,6 @@ xref: UMLS:C4225287 {source="MEDGEN:907690", source="MONDO:equivalentTo", source is_a: MONDO:0019200 {source="DC-OMIM:616544", source="DOID:0110389", source="MONDO:Redundant", source="OMIM:616544"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26527 ! HGSNAT -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26527 {source="MONDO:mim2gene_medgen"} ! HGSNAT [Term] id: MONDO:0014688 @@ -339266,7 +337238,6 @@ xref: OMIM:616546 {source="MONDO:equivalentTo", source="DOID:0110096"} xref: UMLS:C4225286 {source="MEDGEN:901479", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018342 {source="Orphanet:Inferred"} ! Joubert syndrome with Jeune asphyxiating thoracic dystrophy is_a: MONDO:0018770 {source="DOID:0110096", source="OMIM:616546"} ! Jeune syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19960 {source="MONDO:mim2gene_medgen"} ! KIAA0586 [Term] id: MONDO:0014689 @@ -339294,7 +337265,7 @@ is_a: MONDO:0001029 {source="DOID:0080592", source="OMIM:616549"} ! Klippel-Feil is_a: MONDO:0019952 {source="Orphanet:447974"} ! congenital myopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014689 {source="MONDO:CLINGEN"} relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18150 {source="MONDO:mim2gene_medgen"} ! MYO18B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18150 {source="OMIM:616549"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -339324,7 +337295,6 @@ is_a: MONDO:0100569 {source="https://orcid.org/0009-0007-0138-2054"} ! ACD-relat intersection_of: MONDO:0015780 ! dyskeratosis congenita intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25070 ! ACD -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25070 {source="MONDO:mim2gene_medgen"} ! ACD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7605" xsd:anyURI @@ -339349,8 +337319,8 @@ xref: Orphanet:648 {source="OMIM:616559"} xref: UMLS:C4225282 {source="MEDGEN:896352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018997 {source="DC-OMIM:616559", source="DOID:0060587", source="MONDO:Redundant", source="OMIM:616559"} ! Noonan syndrome intersection_of: MONDO:0018997 ! Noonan syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11188 ! SOS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11188 {source="MONDO:mim2gene_medgen"} ! SOS2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11188 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11188 {source="OMIM:616559"} [Term] id: MONDO:0014692 @@ -339374,7 +337344,6 @@ xref: UMLS:C4225281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:616562", source="DOID:0110401", source="MONDO:Redundant", source="OMIM:616562"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/967 ! BBS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/967 {source="MONDO:mim2gene_medgen"} ! BBS2 [Term] id: MONDO:0014693 @@ -339398,7 +337367,6 @@ xref: UMLS:C4225280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018997 {source="DC-OMIM:616564", source="DOID:0060588", source="MONDO:Redundant", source="OMIM:616564"} ! Noonan syndrome intersection_of: MONDO:0018997 ! Noonan syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6742 ! LZTR1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6742 {source="MONDO:mim2gene_medgen"} ! LZTR1 [Term] id: MONDO:0014694 @@ -339421,9 +337389,9 @@ xref: UMLS:C4225279 {source="MONDO:equivalentTo", source="MEDGEN:899713", source is_a: MONDO:0000359 {source="MONDO:Redundant", source="OMIM:616566"} ! spondylocostal dysostosis is_a: MONDO:0010180 {source="MONDO:Redundant", source="Orphanet:2311/btnt"} ! autosomal recessive spondylocostal dysostosis intersection_of: MONDO:0010180 ! autosomal recessive spondylocostal dysostosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21390 ! RIPPLY2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21390 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21390 {source="MONDO:mim2gene_medgen"} ! RIPPLY2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21390 {source="OMIM:616566"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -339453,7 +337421,6 @@ xref: Orphanet:191 {source="OMIM:616570"} xref: UMLS:C1851443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342008"} is_a: MONDO:0008926 {source="DC-OMIM:616570", source="DOID:0080913", source="OMIM:616570"} ! COFS syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616570"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3437 {source="MONDO:mim2gene_medgen"} ! ERCC5 [Term] id: MONDO:0014697 @@ -339476,9 +337443,9 @@ xref: OMIM:616576 {source="MONDO:equivalentTo"} xref: UMLS:C4225277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906018"} is_a: MONDO:0015517 {source="DC-OMIM:616576", source="DOID:0081154", source="MONDO:Redundant", source="OMIM:616576"} ! common variable immunodeficiency intersection_of: MONDO:0015517 ! common variable immunodeficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7794 ! NFKB1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7794 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014697 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7794 {source="MONDO:mim2gene_medgen"} ! NFKB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7794 {source="OMIM:616576"} [Term] id: MONDO:0014698 @@ -339501,7 +337468,6 @@ xref: Orphanet:457351 {source="MONDO:equivalentTo"} xref: UMLS:C4225276 {source="MEDGEN:895574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005328 {source="Orphanet:457351"} ! eye disorder relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:457351", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18119 {source="MONDO:mim2gene_medgen"} ! AFG2A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -339528,9 +337494,9 @@ xref: OMIM:616579 {source="MONDO:equivalentTo", source="DOID:0070070"} xref: UMLS:C5676894 {source="MEDGEN:1810363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:616579"} ! intellectual disability, autosomal dominant intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20311 ! CHAMP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20311 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20311 {source="MONDO:mim2gene_medgen"} ! CHAMP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20311 {source="OMIM:616579"} [Term] id: MONDO:0014700 @@ -339564,7 +337530,7 @@ is_a: MONDO:0015159 {source="Orphanet:2729"} ! multiple congenital anomalies/dys is_a: MONDO:0018681 {source="Orphanet:453504", source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2729", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic SO:1000008 ! point_mutation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5044 {source="MONDO:mim2gene_medgen"} ! HNRNPK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5044 {source="OMIM:616580"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6335" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4064/okamoto-syndrome" xsd:anyURI {source="GARD:0004064"} @@ -339592,7 +337558,6 @@ xref: UMLS:C4225273 {source="MEDGEN:905084", source="MONDO:equivalentTo", source is_a: MONDO:0016761 {source="DOID:0112281", source="Orphanet:459051"} ! spondyloepiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:459051", source="PMID:31633310"} ! type 2 collagenopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014701 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -339625,7 +337590,6 @@ is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="htt is_a: MONDO:0019064 {source="DOID:0110825", source="MONDO:0014702/inferred", source="MONDO:Redundant", source="OMIM:616586", source="Orphanet:447760/inferred", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia is_a: MONDO:0100126 {source="PMID:32017139", source="https://github.com/monarch-initiative/mondo/issues/1444"} ! P5CS deficiency relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:447760", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 {source="MONDO:mim2gene_medgen"} ! ALDH18A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -339650,8 +337614,8 @@ xref: UMLS:C4225271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:616589", source="Orphanet:974/btnt"} ! Adams-Oliver syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0007034 ! Adams-Oliver syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2910 ! DLL4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2910 {source="MONDO:mim2gene_medgen"} ! DLL4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2910 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2910 {source="OMIM:616589"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -339673,7 +337637,6 @@ xref: OMIM:616592 {source="Orphanet:477831", source="MONDO:equivalentTo"} xref: Orphanet:477831 {source="MONDO:equivalentTo"} xref: UMLS:C4225270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:896409"} is_a: MONDO:0018230 {source="Orphanet:477831", source="Orphanet:477831/inferred"} ! skeletal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8804 {source="MONDO:mim2gene_medgen"} ! PDGFRB [Term] id: MONDO:0014705 @@ -339695,7 +337658,6 @@ is_a: MONDO:0015469 {source="MONDO:Redundant", source="OMIM:616602", source="htt is_a: MONDO:0018971 {source="Orphanet:63440/btnt"} ! isolated oxycephaly intersection_of: MONDO:0015469 ! craniosynostosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12872 ! ZIC1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12872 {source="MONDO:mim2gene_medgen"} ! ZIC1 [Term] id: MONDO:0014706 @@ -339721,7 +337683,6 @@ intersection_of: MONDO:0100237 ! inherited cutis laxa intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 ! ALDH18A1 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:616603"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 {source="MONDO:mim2gene_medgen"} ! ALDH18A1 [Term] id: MONDO:0014707 @@ -339818,7 +337779,7 @@ xref: OMIM:616622 {source="MONDO:equivalentTo", source="Orphanet:477857"} xref: Orphanet:477857 {source="MONDO:equivalentTo"} xref: UMLS:C5567647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799070"} is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10260 {source="MONDO:mim2gene_medgen"} ! RORC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10260 {source="OMIM:616622"} [Term] id: MONDO:0014711 @@ -339851,7 +337812,6 @@ is_a: MONDO:0015626 {source="DOID:0110162/inferred", source="MONDO:Redundant", s is_a: MONDO:0018993 {source="DOID:0110162", source="MONDO:Redundant", source="Orphanet:488333"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4816 ! HARS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4816 {source="MONDO:mim2gene_medgen"} ! HARS1 [Term] id: MONDO:0014712 @@ -339872,9 +337832,9 @@ xref: OMIM:616629 {source="MONDO:equivalentTo"} xref: UMLS:C4225263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899086"} is_a: MONDO:0017842 {source="DC-OMIM:616629", source="MONDO:Redundant", source="OMIM:616629"} ! Senior-Loken syndrome intersection_of: MONDO:0017842 ! Senior-Loken syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17861 ! TRAF3IP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17861 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616629"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17861 {source="MONDO:mim2gene_medgen"} ! TRAF3IP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17861 {source="OMIM:616629"} [Term] id: MONDO:0014713 @@ -339895,8 +337855,8 @@ xref: UMLS:C4225262 {source="MEDGEN:894586", source="MONDO:equivalentTo", source is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:616631"} ! porokeratosis is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis intersection_of: MONDO:0006602 ! porokeratosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3631 ! FDPS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3631 {source="MONDO:mim2gene_medgen"} ! FDPS +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3631 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3631 {source="OMIM:616631"} [Term] id: MONDO:0014714 @@ -339919,7 +337879,6 @@ xref: Orphanet:477814 {source="MONDO:equivalentTo"} xref: UMLS:C5567650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799073"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0021147 ! disorder of development or morphogenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2876 {source="MONDO:mim2gene_medgen"} ! DIAPH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI [Term] @@ -339947,7 +337906,6 @@ xref: UMLS:C4225260 {source="MEDGEN:904009", source="MONDO:equivalentTo", source is_a: MONDO:0003778 {source="DOID:0111975", source="https://orcid.org/0000-0001-7941-2961"} ! inborn error of immunity is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11363 {source="MONDO:mim2gene_medgen"} ! STAT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -339977,7 +337935,6 @@ xref: UMLS:C4225259 {source="MEDGEN:899689", source="MONDO:equivalentTo", source is_a: MONDO:0015159 {source="EFO:0009050", source="Orphanet:457485"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100283 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457485", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3942 {source="MONDO:mim2gene_medgen"} ! MTOR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -340002,7 +337959,7 @@ xref: Orphanet:324290 {source="MONDO:equivalentTo"} xref: SCTID:733082001 {source="MONDO:equivalentTo"} xref: UMLS:C4225258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907932"} is_a: MONDO:0020074 {source="DC-OMIM:616640", source="DOID:0111445", source="OMIM:616640", source="Orphanet:324290"} ! progressive myoclonus epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13993 {source="MONDO:mim2gene_medgen"} ! PRDM8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13993 {source="OMIM:616640"} [Term] id: MONDO:0014718 @@ -340028,7 +337985,6 @@ is_a: MONDO:0017385 {source="Orphanet:293181/btnt"} ! malignant migrating partia is_a: MONDO:0100062 {source="DC-OMIM:616645", source="MONDO:Redundant", source="OMIM:616645"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13818 ! SLC12A5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13818 {source="MONDO:mim2gene_medgen"} ! SLC12A5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -340055,7 +338011,6 @@ xref: UMLS:C4225256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019236 {source="Orphanet:457375"} ! inborn disorder of purine metabolism is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:457375"} ! inherited neurodegenerative disorder is_a: MONDO:0100062 {source="DC-OMIM:616647", source="DOID:0080458", source="OMIM:616647"} ! developmental and epileptic encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6176 {source="MONDO:mim2gene_medgen"} ! ITPA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -340120,7 +338075,6 @@ is_a: MONDO:0016761 {source="Orphanet:353298"} ! spondyloepiphyseal dysplasia is_a: MONDO:0100558 {source="https://clinicalgenome.org/affiliation/40065/"} ! RNU4ATAC spectrum disorder is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:353298", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34016 {source="MONDO:mim2gene_medgen"} ! RNU4ATAC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7497" xsd:anyURI @@ -340177,7 +338131,6 @@ is_a: MONDO:0018772 {source="DC-OMIM:616654", source="DOID:0110993", source="MON intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25774 ! TCTN2 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014724 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25774 {source="MONDO:mim2gene_medgen"} ! TCTN2 [Term] id: MONDO:0014725 @@ -340204,7 +338157,7 @@ xref: UMLS:C4225254 {source="MONDO:equivalentTo", source="MEDGEN:900192", source is_a: MONDO:0018162 {source="Orphanet:447997"} ! neurometabolic disorder due to serine deficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014725 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:447997", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10942 {source="MONDO:mim2gene_medgen"} ! SLC1A4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10942 {source="OMIM:616657"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -340241,7 +338194,6 @@ is_a: MONDO:0015626 {source="DOID:0110176/inferred", source="EFO:1001983/inferre is_a: MONDO:0018993 {source="DOID:0110176", source="EFO:1001983"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11226 ! SPG11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11226 {source="MONDO:mim2gene_medgen"} ! SPG11 [Term] id: MONDO:0014727 @@ -340254,7 +338206,6 @@ xref: MEDGEN:901044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616669 {source="MONDO:equivalentTo"} xref: UMLS:C4225252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:901044"} is_a: MONDO:0021094 {source="OMIM:616669", source="OMIMPS:300755"} ! immunodeficiency disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5433 {source="MONDO:mim2gene_medgen"} ! IFNAR2 [Term] id: MONDO:0014728 @@ -340279,8 +338230,8 @@ xref: UMLS:C5567608 {source="MEDGEN:1799031", source="MONDO:equivalentTo", sourc is_a: MONDO:0000732 {source="DC-OMIM:616672", source="DOID:0111489", source="MONDO:Redundant", source="OMIM:616672"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25695 ! CARS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25695 {source="MONDO:mim2gene_medgen"} ! CARS2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25695 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25695 {source="OMIM:616672"} [Term] id: MONDO:0014729 @@ -340308,8 +338259,8 @@ xref: UMLS:C4225250 {source="MEDGEN:896387", source="MONDO:equivalentTo", source is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DOID:0110820", source="EFO:0009018/inferred", source="MONDO:Redundant", source="OMIM:616680", source="Orphanet:459056/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6783 ! MAG -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6783 {source="MONDO:mim2gene_medgen"} ! MAG +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6783 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6783 {source="OMIM:616680"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -340327,7 +338278,7 @@ xref: MEDGEN:898705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616681 {source="MONDO:equivalentTo"} xref: UMLS:C4225249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:898705"} is_a: MONDO:0016660 {source="DC-OMIM:616681", source="DOID:0070289", source="OMIM:616681"} ! autosomal recessive primary microcephaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29101 {source="MONDO:mim2gene_medgen"} ! ANKLE2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29101 {source="OMIM:616681"} [Term] id: MONDO:0014731 @@ -340350,7 +338301,6 @@ xref: UMLS:C4225248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015286 ! congenital disorder of glycosylation relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:466926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3513 {source="MONDO:mim2gene_medgen"} ! EXT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -340381,7 +338331,6 @@ is_a: MONDO:0019046 {source="DOID:0060796", source="DOID:0060796/inferred", sour intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14583 ! VPS11 relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:466934", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14583 {source="MONDO:mim2gene_medgen"} ! VPS11 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -340420,7 +338369,6 @@ is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0018995 {source="DOID:0110187", source="MONDO:Redundant", source="Orphanet:391351"} ! Charcot-Marie-Tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11474 ! SURF1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11474 {source="MONDO:mim2gene_medgen"} ! SURF1 [Term] id: MONDO:0014734 @@ -340441,7 +338389,6 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13818 ! SLC12A5 intersection_of: predisposes_towards MONDO:0005579 ! epilepsy, idiopathic generalized relationship: excluded_subClassOf MONDO:0005579 {source="OMIM:616685", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13818 {source="MONDO:mim2gene_medgen"} ! SLC12A5 relationship: predisposes_towards MONDO:0005579 {source="OMIM:616685"} ! epilepsy, idiopathic generalized property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI @@ -340479,7 +338426,6 @@ is_a: MONDO:0015626 {source="DOID:0110168/inferred", source="MONDO:Redundant", s is_a: MONDO:0018993 {source="DOID:0110168", source="MONDO:Redundant", source="Orphanet:435387"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12666 ! VCP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12666 {source="MONDO:mim2gene_medgen"} ! VCP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -340515,7 +338461,6 @@ is_a: MONDO:0018993 {source="DOID:0110181", source="Orphanet:466768"} ! Charcot- intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23573 ! MORC2 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014736 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23573 {source="MONDO:mim2gene_medgen"} ! MORC2 [Term] id: MONDO:0014737 @@ -340539,8 +338484,8 @@ xref: OMIM:616689 {source="MONDO:equivalentTo"} xref: UMLS:C4225242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908701"} is_a: MONDO:0017910 {source="DC-OMIM:616689", source="DOID:0111577", source="MONDO:Redundant"} ! dehydrated hereditary stomatocytosis intersection_of: MONDO:0017910 ! dehydrated hereditary stomatocytosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6293 ! KCNN4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6293 {source="MONDO:mim2gene_medgen"} ! KCNN4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6293 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6293 {source="OMIM:616689"} [Term] id: MONDO:0014738 @@ -340569,7 +338514,6 @@ xref: UMLS:C4225241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019587 {source="DOID:0110590", source="MONDO:Redundant", source="OMIM:616697"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6343 ! KITLG -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6343 {source="MONDO:mim2gene_medgen"} ! KITLG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -340597,7 +338541,6 @@ xref: UMLS:C4084709 {source="MEDGEN:899875", source="MONDO:equivalentTo", source is_a: MONDO:0019588 {source="DC-OMIM:616705", source="DOID:0110539", source="MONDO:Redundant", source="OMIM:616705"} ! hearing loss, autosomal recessive intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7029 ! MET -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7029 {source="MONDO:mim2gene_medgen"} ! MET property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -340624,8 +338567,8 @@ xref: OMIM:616707 {source="DOID:0110589", source="MONDO:equivalentTo"} xref: UMLS:C4225240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:898808"} is_a: MONDO:0019587 {source="DC-OMIM:616707", source="DOID:0110589", source="MONDO:Redundant", source="OMIM:616707"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17513 ! HOMER2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17513 {source="MONDO:mim2gene_medgen"} ! HOMER2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17513 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17513 {source="OMIM:616707"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -340651,7 +338594,7 @@ xref: Orphanet:466950 {source="MONDO:equivalentTo"} xref: UMLS:C5681129 {source="MEDGEN:1841517", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018760 {source="Orphanet:466950"} ! DeSanto-Shinawi syndrome relationship: has_characteristic SO:1000008 ! point_mutation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17327 {source="MONDO:mim2gene_medgen"} ! WAC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17327 {source="OMIM:616708"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5424" xsd:anyURI [Term] @@ -340673,9 +338616,9 @@ xref: UMLS:C4225238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005180 {source="DC-OMIM:616710", source="MONDO:Redundant", source="OMIM:616710"} ! Parkinson disease is_a: MONDO:0008199 {source="DOID:0080504", source="PMID:27270108"} ! late-onset Parkinson disease intersection_of: MONDO:0005180 ! Parkinson disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21645 ! CHCHD2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21645 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21645 {source="MONDO:mim2gene_medgen"} ! CHCHD2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21645 {source="OMIM:616710"} [Term] id: MONDO:0014743 @@ -340705,7 +338648,6 @@ is_a: MONDO:0100265 {source="https://www.clinicalgenome.org/affiliation/40049/"} intersection_of: MONDO:0100265 ! peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9719 ! PEX5 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9719 {source="MONDO:mim2gene_medgen"} ! PEX5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -340737,7 +338679,7 @@ is_a: MONDO:0002254 {source="PMID:29419818", source="https://orcid.org/0000-0001 is_a: MONDO:0015244 {source="DOID:0111155", source="Orphanet:466794/inferred"} ! autosomal recessive cerebellar ataxia is_a: MONDO:0020047 {source="Orphanet:466794"} ! autosomal recessive syndromic cerebellar ataxia relationship: has_characteristic PATO:0000389 ! acute -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14372 {source="MONDO:mim2gene_medgen"} ! SCYL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14372 {source="OMIM:616719"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI @@ -340762,8 +338704,8 @@ xref: UMLS:C4225235 {source="MEDGEN:897962", source="MONDO:equivalentTo", source is_a: MONDO:0018940 {source="DOID:0110673", source="MONDO:Redundant", source="OMIM:616720"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2190 ! COL13A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2190 {source="MONDO:mim2gene_medgen"} ! COL13A1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2190 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2190 {source="OMIM:616720"} [Term] id: MONDO:0014746 @@ -340795,7 +338737,7 @@ is_a: MONDO:0017740 {source="Orphanet:468699"} ! disorder of protein N-glycosyla is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:468699", source="Orphanet:468699/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20862 {source="MONDO:mim2gene_medgen"} ! SLC39A8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20862 {source="OMIM:616721"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -340818,7 +338760,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="htt is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31582 {source="MONDO:mim2gene_medgen"} ! MIR204 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31582 {source="OMIM:616722"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -340847,7 +338789,7 @@ xref: UMLS:C5568882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015159 {source="Orphanet:457395"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016761 {source="Orphanet:457395", source="PMID:31633310"} ! spondyloepiphyseal dysplasia relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457395", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29420 {source="MONDO:mim2gene_medgen"} ! RSPRY1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29420 {source="OMIM:616723"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -340871,7 +338813,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005486 {source="DC-OMIM:616724", source="MONDO:Redundant", source="OMIM:616724"} ! tooth agenesis intersection_of: MONDO:0005486 ! tooth agenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6698 ! LRP6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6698 {source="MONDO:mim2gene_medgen"} ! LRP6 [Term] id: MONDO:0014750 @@ -340896,8 +338837,8 @@ xref: OMIM:616726 {source="MONDO:equivalentTo", source="DOID:0110619"} xref: UMLS:C4225230 {source="MONDO:equivalentTo", source="MEDGEN:898734", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:616726", source="DOID:0110619", source="MONDO:Redundant", source="OMIM:616726"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4166 ! GAS8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4166 {source="MONDO:mim2gene_medgen"} ! GAS8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4166 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4166 {source="OMIM:616726"} [Term] id: MONDO:0014751 @@ -340921,7 +338862,7 @@ xref: Orphanet:477993 {source="MONDO:equivalentTo"} xref: UMLS:C4225229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895943"} is_a: MONDO:0015159 {source="Orphanet:477993"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:477993", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29079 {source="MONDO:mim2gene_medgen"} ! KDM1A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29079 {source="OMIM:616728"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -340947,7 +338888,6 @@ is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:616730"} ! nephrotic is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29914 ! NUP107 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29914 {source="MONDO:mim2gene_medgen"} ! NUP107 [Term] id: MONDO:0014753 @@ -340985,7 +338925,6 @@ xref: UMLS:C4225226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018151 {source="DC-OMIM:616733", source="DOID:0070245", source="MONDO:Redundant", source="OMIM:616733"} ! coenzyme Q10 deficiency intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2244 ! COQ7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2244 {source="MONDO:mim2gene_medgen"} ! COQ7 [Term] id: MONDO:0014755 @@ -341006,9 +338945,9 @@ xref: OMIM:616734 {source="MONDO:equivalentTo"} xref: UMLS:C4225225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902880"} is_a: MONDO:0007990 {source="DOID:0112243", source="MONDO:Redundant", source="Orphanet:2505/btnt"} ! multiple benign circumferential skin creases on limbs intersection_of: MONDO:0007990 ! multiple benign circumferential skin creases on limbs -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6891 ! MAPRE2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6891 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6891 {source="MONDO:mim2gene_medgen"} ! MAPRE2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6891 {source="OMIM:616734"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -341030,8 +338969,8 @@ xref: UMLS:C4225223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003233 {source="DC-OMIM:616736", source="DOID:0111432", source="MONDO:Redundant", source="OMIM:616736"} ! essential tremor is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003233 ! essential tremor -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29945 ! TENM4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29945 {source="MONDO:mim2gene_medgen"} ! TENM4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29945 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29945 {source="OMIM:616736"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -341062,7 +339001,7 @@ is_a: MONDO:0015159 {source="Orphanet:487796"} ! multiple congenital anomalies/d is_a: MONDO:0018795 {source="Orphanet:487796"} ! syndromic constitutional thrombocytopenia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014757 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:487796", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1736 {source="MONDO:mim2gene_medgen"} ! CDC42 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1736 {source="OMIM:616737"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -341086,9 +339025,9 @@ xref: UMLS:C4225221 {source="MEDGEN:901732", source="MONDO:equivalentTo", source is_a: MONDO:0011555 {source="MONDO:Redundant", source="OMIM:616738", source="Orphanet:71289/btnt"} ! radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is_a: MONDO:0100458 {source="https://orcid.org/0000-0002-7437-8060"} ! MECOM-associated syndrome intersection_of: MONDO:0011555 ! radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3498 ! MECOM +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3498 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3498 {source="MONDO:mim2gene_medgen"} ! MECOM +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3498 {source="OMIM:616738"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3952" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -341115,7 +339054,6 @@ xref: UMLS:C4225220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019502 {source="DC-OMIM:616739", source="DOID:0081214", source="MONDO:Redundant", source="OMIM:616739"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5028 ! HNMT -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5028 {source="MONDO:mim2gene_medgen"} ! HNMT property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -341141,7 +339079,7 @@ xref: UMLS:C5568133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0021094 {source="OMIM:616740"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014760 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:476113", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11763 {source="MONDO:mim2gene_medgen"} ! TFRC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11763 {source="OMIM:616740"} [Term] id: MONDO:0014761 @@ -341169,8 +339107,8 @@ xref: UMLS:C4225217 {source="MEDGEN:902629", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018677 {source="DC-OMIM:616749", source="MONDO:Redundant", source="OMIM:616749"} ! visceral heterotaxy intersection_of: MONDO:0018677 ! visceral heterotaxy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14357 ! MMP21 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14357 {source="MONDO:mim2gene_medgen"} ! MMP21 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14357 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14357 {source="OMIM:616749"} [Term] id: MONDO:0014763 @@ -341180,6 +339118,7 @@ synonym: "Bombay phenotype, digenic" EXACT [OMIM:616754, OMIM:genemap2] synonym: "para-Bombay phenotype" RELATED [OMIM:616754] synonym: "Reunion variant" RELATED [OMIM:616754] xref: OMIM:616754 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4012 {source="OMIM:616754"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2942" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -341208,7 +339147,7 @@ is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="htt is_a: MONDO:0015159 {source="Orphanet:464282"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015653 {source="Orphanet:464282"} ! monogenic epilepsy relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464282", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21033 {source="MONDO:mim2gene_medgen"} ! HACE1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21033 {source="OMIM:616756"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -341237,8 +339176,8 @@ xref: OMIM:616760 {source="MONDO:equivalentTo"} xref: UMLS:C4225214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902275"} is_a: MONDO:0008686 {source="DOID:0111574", source="MONDO:Redundant", source="Orphanet:170/btnt"} ! isolated familial wooly hair disorder intersection_of: MONDO:0008686 ! isolated familial wooly hair disorder -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30839 ! KRT25 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30839 {source="MONDO:mim2gene_medgen"} ! KRT25 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30839 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30839 {source="OMIM:616760"} [Term] id: MONDO:0014766 @@ -341250,7 +339189,7 @@ xref: MEDGEN:908888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616763 {source="MONDO:equivalentTo"} xref: UMLS:C4225213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908888"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29515 {source="MONDO:mim2gene_medgen"} ! PLEKHG2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29515 {source="OMIM:616763"} [Term] id: MONDO:0014767 @@ -341272,9 +339211,9 @@ xref: UMLS:C4225212 {source="MONDO:equivalentTo", source="MEDGEN:907155", source is_a: MONDO:0019342 {source="DC-OMIM:616777", source="DOID:0070005", source="MONDO:Redundant", source="OMIM:616777"} ! Seckel syndrome is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder intersection_of: MONDO:0019342 ! Seckel syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30764 ! TRAIP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30764 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616777"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30764 {source="MONDO:mim2gene_medgen"} ! TRAIP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30764 {source="OMIM:616777"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -341300,7 +339239,6 @@ xref: UMLS:C4225211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0007432 {source="DOID:0111036", source="MONDO:Redundant", source="OMIM:616779"} ! cerebral arteriopathy with subcortical infarcts and leukoencephalopathy intersection_of: MONDO:0007432 ! cerebral arteriopathy with subcortical infarcts and leukoencephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9476 ! HTRA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9476 {source="MONDO:mim2gene_medgen"} ! HTRA1 [Term] id: MONDO:0014769 @@ -341334,7 +339272,6 @@ xref: UMLS:C4084842 {source="MONDO:equivalentTo", source="MEDGEN:895764", source is_a: MONDO:0018772 {source="DC-OMIM:616781", source="DOID:0110994", source="MONDO:Redundant", source="OMIM:616781"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24866 ! CEP104 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24866 {source="MONDO:mim2gene_medgen"} ! CEP104 [Term] id: MONDO:0014771 @@ -341355,8 +339292,8 @@ xref: OMIM:616784 {source="DOID:0110995", source="MONDO:equivalentTo"} xref: UMLS:C4084843 {source="MEDGEN:900415", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018772 {source="DC-OMIM:616784", source="DOID:0110995", source="MONDO:Redundant", source="OMIM:616784"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29068 ! KATNIP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29068 {source="MONDO:mim2gene_medgen"} ! KATNIP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29068 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29068 {source="OMIM:616784"} [Term] id: MONDO:0014772 @@ -341376,9 +339313,9 @@ xref: OMIM:616788 {source="MONDO:equivalentTo"} xref: UMLS:C4225209 {source="MEDGEN:909661", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016044 {source="MONDO:Redundant", source="Orphanet:199306/btnt"} ! cleft lip/palate intersection_of: MONDO:0016044 ! cleft lip/palate -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2917 ! DLX4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2917 relationship: has_characteristic MONDO:0021128 ! has an isolated presentation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2917 {source="MONDO:mim2gene_medgen"} ! DLX4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2917 {source="OMIM:616788"} [Term] id: MONDO:0014773 @@ -341410,7 +339347,7 @@ xref: UMLS:C4225208 {source="MEDGEN:900924", source="MONDO:equivalentTo", source is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:369891", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0015159 {source="Orphanet:369891"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22962 {source="MONDO:mim2gene_medgen"} ! MED13L +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22962 {source="OMIM:616789"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -341457,8 +339394,8 @@ is_a: MONDO:0000732 {source="DC-OMIM:616794", source="DOID:0111470", source="MON is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0016801 {source="Orphanet:466784"} ! mitochondrial substrate carrier disorder intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20661 {source="MONDO:mim2gene_medgen"} ! SLC25A26 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20661 {source="MONDO:mim2gene_medgen"} ! SLC25A26 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20661 {source="MONDO:mim2gene_medgen"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20661 {source="OMIM:616794"} [Term] id: MONDO:0014776 @@ -341482,7 +339419,6 @@ xref: OMIM:616795 {source="MONDO:equivalentTo", source="Orphanet:458803", source xref: Orphanet:458803 {source="MONDO:equivalentTo"} xref: UMLS:C4225205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902592"} is_a: MONDO:0019793 {source="EFO:0009059", source="Orphanet:458803"} ! autosomal dominant cerebellar ataxia type III -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1394 {source="MONDO:mim2gene_medgen"} ! CACNA1G [Term] id: MONDO:0014777 @@ -341504,9 +339440,9 @@ xref: OMIM:616801 {source="MONDO:equivalentTo"} xref: UMLS:C4225203 {source="MEDGEN:907651", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0014176 {source="DC-OMIM:616801", source="MONDO:Redundant", source="OMIM:616801"} ! hypotonia, infantile, with psychomotor retardation and characteristic facies intersection_of: MONDO:0014176 ! hypotonia, infantile, with psychomotor retardation and characteristic facies -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26582 ! UNC80 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26582 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014777 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26582 {source="MONDO:mim2gene_medgen"} ! UNC80 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26582 {source="OMIM:616801"} [Term] id: MONDO:0014778 @@ -341527,7 +339463,7 @@ xref: Orphanet:530983 {source="MONDO:equivalentTo"} xref: UMLS:C4225202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903542"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014778 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11201 {source="MONDO:mim2gene_medgen"} ! SOX5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11201 {source="OMIM:616803"} [Term] id: MONDO:0014779 @@ -341552,7 +339488,6 @@ is_a: MONDO:0003321 {source="MONDO:Redundant", source="OMIM:616806"} ! hereditar is_a: MONDO:0019004 {source="DC-OMIM:616806"} ! kidney Wilms tumor intersection_of: MONDO:0003321 ! hereditary Wilms tumor intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9966 ! REST -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9966 {source="MONDO:mim2gene_medgen"} ! REST property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -341578,8 +339513,8 @@ xref: OMIM:616809 {source="MONDO:equivalentTo"} xref: UMLS:C4225201 {source="MEDGEN:906509", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016596 {source="DOID:0070437", source="MONDO:Redundant", source="OMIM:616809", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28213 ! PIGY -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28213 {source="MONDO:mim2gene_medgen"} ! PIGY +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28213 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28213 {source="OMIM:616809"} [Term] id: MONDO:0014781 @@ -341608,9 +339543,9 @@ is_a: MONDO:0006025 {source="DOID:0111501"} ! autosomal recessive disease is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0024237 {source="Orphanet:478029"} ! inherited neurodegenerative disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17772 ! TXN2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17772 relationship: has_characteristic HP:0000007 {source="Orphanet:478029"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17772 {source="MONDO:mim2gene_medgen"} ! TXN2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17772 {source="OMIM:616811"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5760" xsd:anyURI [Term] @@ -341638,8 +339573,8 @@ xref: Orphanet:476084 {source="DOID:0110290", source="MONDO:equivalentTo"} xref: UMLS:C5568138 {source="MEDGEN:1799561", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015152 {source="DOID:0110290", source="MONDO:Redundant", source="OMIM:616812", source="Orphanet:476084"} ! autosomal recessive limb-girdle muscular dystrophy intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1152 ! BVES -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1152 {source="MONDO:mim2gene_medgen"} ! BVES +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1152 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1152 {source="OMIM:616812"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -341655,6 +339590,7 @@ synonym: "Prembl" RELATED [OMIM:616814] synonym: "PREMBL1" EXACT ABBREVIATION [OMIM:616814] synonym: "TLE6 preimplantation embryonic lethality" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:616814 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30788 {source="OMIM:616814"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5091" xsd:anyURI @@ -341681,7 +339617,7 @@ is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0019952 {source="Orphanet:467176", source="https://orcid.org/0000-0001-5208-3432"} ! congenital myopathy relationship: disease_has_feature HP:0000486 ! Strabismus relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28033 {source="MONDO:mim2gene_medgen"} ! CCDC174 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28033 {source="OMIM:616816"} [Term] id: MONDO:0014785 @@ -341703,7 +339639,7 @@ xref: Orphanet:391408 {source="OMIM:616817"} xref: UMLS:C4225195 {source="MEDGEN:906140", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0800450 {source="OMIM:616817"} ! microcephaly, short stature, and impaired glucose metabolism relationship: excluded_subClassOf MONDO:0018320 {source="Orphanet:391408/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! primary microcephaly-mild intellectual disability-young-onset diabetes syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14951 {source="MONDO:mim2gene_medgen"} ! PPP1R15B +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14951 {source="OMIM:616817"} [Term] id: MONDO:0014786 @@ -341722,9 +339658,9 @@ xref: OMIM:616818 {source="MONDO:equivalentTo"} xref: UMLS:C4225194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897340"} is_a: MONDO:0100555 {source="OMIM:616818"} ! IgA nephropathy, susceptibility to intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11270 ! SPRY2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11270 intersection_of: predisposes_towards MONDO:0005342 ! IgA glomerulonephritis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11270 {source="MONDO:mim2gene_medgen"} ! SPRY2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11270 {source="OMIM:616818"} [Term] id: MONDO:0014787 @@ -341749,7 +339685,7 @@ is_a: MONDO:0020022 ! central nervous system malformation is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:466688", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25491 {source="MONDO:mim2gene_medgen"} ! FRMD4A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25491 {source="OMIM:616819"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -341776,8 +339712,8 @@ is_a: MONDO:0015152 {source="DOID:0110288", source="MONDO:Redundant", source="OM is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0019056 ! neuromuscular disease intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16084 ! LIMS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16084 {source="MONDO:mim2gene_medgen"} ! LIMS2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16084 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16084 {source="OMIM:616827"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -341805,7 +339741,7 @@ xref: Orphanet:468684 {source="MONDO:equivalentTo"} xref: UMLS:C4225191 {source="MONDO:equivalentTo", source="MEDGEN:906792", source="MONDO:MEDGEN"} is_a: MONDO:0005501 {source="DC-OMIM:616828", source="DOID:0070267", source="OMIM:616828"} ! congenital disorder of glycosylation type II is_a: MONDO:0017749 {source="Orphanet:468684"} ! disorder of multiple glycosylation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28178 {source="MONDO:mim2gene_medgen"} ! CCDC115 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28178 {source="OMIM:616828"} [Term] id: MONDO:0014790 @@ -341832,7 +339768,7 @@ xref: Orphanet:466703 {source="MONDO:equivalentTo"} xref: UMLS:C4225190 {source="MEDGEN:895025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005501 {source="DC-OMIM:616829", source="DOID:0070268", source="OMIM:616829"} ! congenital disorder of glycosylation type II is_a: MONDO:0017749 {source="Orphanet:466703"} ! disorder of multiple glycosylation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18085 {source="MONDO:mim2gene_medgen"} ! TMEM199 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18085 {source="OMIM:616829"} [Term] id: MONDO:0014791 @@ -341854,7 +339790,6 @@ xref: Orphanet:597738 {source="MONDO:equivalentTo"} xref: UMLS:C4085873 {source="MEDGEN:898669", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18420 {source="MONDO:mim2gene_medgen"} ! SETD2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -341872,8 +339807,8 @@ xref: UMLS:C4085250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005382 {source="DC-OMIM:616833", source="DOID:0081369", source="MONDO:Redundant", source="OMIM:616833"} ! bone Paget disease intersection_of: MONDO:0005382 ! bone Paget disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29277 ! ZNF687 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29277 {source="MONDO:mim2gene_medgen"} ! ZNF687 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29277 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29277 {source="OMIM:616833"} [Term] id: MONDO:0014793 @@ -341898,7 +339833,7 @@ is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! heredi is_a: MONDO:0019240 {source="Orphanet:488168"} ! sterol biosynthesis disorder relationship: excluded_subClassOf MONDO:0019268 {source="MONDO:0019274-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epidermal disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10545 {source="MONDO:mim2gene_medgen"} ! MSMO1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10545 {source="OMIM:616834"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI @@ -341922,8 +339857,8 @@ xref: OMIM:616835 {source="MONDO:equivalentTo"} xref: UMLS:C4225188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905079"} is_a: MONDO:0016817 {source="DC-OMIM:616835", source="DOID:0080517", source="MONDO:Redundant", source="OMIM:616835"} ! Meier-Gorlin syndrome intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17493 ! GMNN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17493 {source="MONDO:mim2gene_medgen"} ! GMNN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17493 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17493 {source="OMIM:616835"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -341937,7 +339872,7 @@ xref: OMIM:616839 {source="MONDO:equivalentTo"} xref: UMLS:C4225187 {source="MEDGEN:896368", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_responds_to CHEBI:17015 ! riboflavin -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29683 {source="MONDO:mim2gene_medgen"} ! SLC25A32 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29683 {source="OMIM:616839"} [Term] id: MONDO:0014796 @@ -341963,8 +339898,8 @@ xref: UMLS:C4225186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005180 {source="DOID:0060896/inferred", source="MONDO:Redundant", source="OMIM:616840"} ! Parkinson disease is_a: MONDO:0017279 {source="DOID:0060896", source="MONDO:Redundant"} ! young-onset Parkinson disease intersection_of: MONDO:0017279 ! young-onset Parkinson disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23594 ! VPS13C -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23594 {source="MONDO:mim2gene_medgen"} ! VPS13C +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23594 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23594 {source="OMIM:616840"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -341984,7 +339919,6 @@ xref: OMIM:616843 {source="MONDO:equivalentTo"} xref: UMLS:C4225184 {source="MEDGEN:908120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019297 {source="DC-OMIM:616843", source="EFO:0009153"} ! lymphedema is_a: MONDO:0019313 {source="OMIM:616843"} ! lymphatic malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28993 {source="MONDO:mim2gene_medgen"} ! PIEZO1 [Term] id: MONDO:0014798 @@ -342004,7 +339938,6 @@ xref: OMIM:616849 {source="DOID:0110978", source="MONDO:equivalentTo"} xref: UMLS:C4225183 {source="MEDGEN:903193", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly relationship: excluded_subClassOf MONDO:0007215 {source="DOID:0110978", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly type A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1077 {source="MONDO:mim2gene_medgen"} ! BMPR1B [Term] id: MONDO:0014799 @@ -342026,8 +339959,8 @@ xref: UMLS:C4225182 {source="MEDGEN:895198", source="MONDO:equivalentTo", source is_a: MONDO:0005129 {source="DOID:0110262", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:616851"} ! cataract is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23801 ! SIPA1L3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23801 {source="MONDO:mim2gene_medgen"} ! SIPA1L3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23801 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23801 {source="OMIM:616851"} [Term] id: MONDO:0014800 @@ -342047,7 +339980,6 @@ xref: Orphanet:447977 {source="MONDO:equivalentTo"} xref: UMLS:C4225181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905125"} is_a: MONDO:0016106 {source="Orphanet:447977"} ! progressive muscular dystrophy is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! alpha-actinopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/129 {source="MONDO:mim2gene_medgen"} ! ACTA1 [Term] id: MONDO:0014801 @@ -342072,7 +340004,6 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease is_a: MONDO:0015161 {source="Orphanet:496751"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0016761 {source="Orphanet:496751", source="PMID:31633310"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5244 {source="MONDO:mim2gene_medgen"} ! HSPA9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -342096,7 +340027,6 @@ is_a: MONDO:0016063 {source="DC-OMIM:616858", source="DOID:0081003", source="MON intersection_of: MONDO:0016063 ! Cowden disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10702 ! SEC23B relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:616858"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10702 {source="MONDO:mim2gene_medgen"} ! SEC23B [Term] id: MONDO:0014803 @@ -342119,7 +340049,6 @@ xref: Orphanet:401866 {source="MONDO:equivalentTo"} xref: UMLS:C4225178 {source="MEDGEN:905660", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017845 {source="Orphanet:401866"} ! spastic ataxia is_a: MONDO:0018424 {source="Orphanet:401866"} ! inherited lipoic acid biosynthesis defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20134 {source="MONDO:mim2gene_medgen"} ! GLRX5 [Term] id: MONDO:0014804 @@ -342150,7 +340079,6 @@ is_a: MONDO:0016801 {source="Orphanet:255132"} ! mitochondrial substrate carrier intersection_of: MONDO:0015194 ! sideroblastic anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20134 ! GLRX5 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616860", source="Orphanet:255132"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20134 {source="MONDO:mim2gene_medgen"} ! GLRX5 [Term] id: MONDO:0014805 @@ -342204,7 +340132,6 @@ is_a: MONDO:0000209 {source="DC-OMIM:616866", source="MONDO:Redundant", source=" is_a: MONDO:0003847 {source="MESH:C564805/inferred"} ! hereditary disease intersection_of: MONDO:0000209 ! prenatal-onset spinal muscular atrophy with congenital bone fractures intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12310 ! TRIP4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12310 {source="MONDO:mim2gene_medgen"} ! TRIP4 [Term] id: MONDO:0014807 @@ -342226,7 +340153,6 @@ xref: UMLS:C4225176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000209 {source="DC-OMIM:616867", source="MONDO:Redundant", source="OMIM:616867"} ! prenatal-onset spinal muscular atrophy with congenital bone fractures intersection_of: MONDO:0000209 ! prenatal-onset spinal muscular atrophy with congenital bone fractures intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24268 ! ASCC1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24268 {source="MONDO:mim2gene_medgen"} ! ASCC1 [Term] id: MONDO:0014808 @@ -342257,8 +340183,8 @@ is_a: MONDO:0000824 {source="DC-OMIM:616868", source="MONDO:Redundant", source=" is_a: MONDO:0015170 {source="Orphanet:103908/btnt"} ! congenital sodium diarrhea is_a: MONDO:0045032 {source="MONDO:Redundant"} ! congenital secretory diarrhea intersection_of: MONDO:0000249 ! secretory diarrhea -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11073 ! SLC9A3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11073 {source="MONDO:mim2gene_medgen"} ! SLC9A3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11073 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11073 {source="OMIM:616868"} [Term] id: MONDO:0014809 @@ -342285,10 +340211,10 @@ xref: UMLS:C4225174 {source="MEDGEN:895780", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease is_a: MONDO:0015356 {source="MONDO:Redundant", source="Orphanet:488647"} ! hereditary neoplastic syndrome intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18674 ! DDX41 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18674 intersection_of: predisposes_towards MONDO:0006311 ! myelodysplastic/myeloproliferative neoplasm relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014809 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18674 {source="MONDO:mim2gene_medgen"} ! DDX41 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18674 {source="OMIM:616871"} [Term] id: MONDO:0014810 @@ -342318,7 +340244,7 @@ xref: Orphanet:317473 {source="MONDO:equivalentTo"} xref: UMLS:C4225173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905078"} is_a: MONDO:0015517 {source="DC-OMIM:616873", source="DOID:0081155", source="OMIM:616873"} ! common variable immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014810 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13176 {source="MONDO:mim2gene_medgen"} ! IKZF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13176 {source="OMIM:616873"} [Term] id: MONDO:0014811 @@ -342333,7 +340259,7 @@ xref: OMIM:616875 {source="MONDO:equivalentTo"} xref: UMLS:C4225172 {source="MEDGEN:905041", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100516 {source="https://www.clinicalgenome.org/affiliation/40113/"} ! complex neurodevelopmental disorder with motor features -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28957 {source="MONDO:mim2gene_medgen"} ! EMC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28957 {source="OMIM:616875"} [Term] id: MONDO:0014812 @@ -342365,8 +340291,8 @@ xref: OMIM:616881 {source="DOID:0060795", source="MONDO:equivalentTo"} xref: UMLS:C4225170 {source="MONDO:equivalentTo", source="MEDGEN:896545", source="MONDO:MEDGEN"} is_a: MONDO:0019046 {source="DOID:0060795", source="DOID:0060795/inferred", source="MONDO:Redundant", source="OMIM:616881"} ! leukodystrophy intersection_of: MONDO:0019046 ! leukodystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26938 ! HIKESHI -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26938 {source="MONDO:mim2gene_medgen"} ! HIKESHI +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26938 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26938 {source="OMIM:616881"} [Term] id: MONDO:0014814 @@ -342389,8 +340315,8 @@ xref: OMIM:616882 {source="MONDO:equivalentTo", source="DOID:0110013"} xref: UMLS:C4225169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:909447"} is_a: MONDO:0015609 {source="DC-OMIM:616882", source="DOID:0110013", source="MONDO:Redundant", source="OMIM:616882"} ! advanced sleep phase syndrome intersection_of: MONDO:0015609 ! advanced sleep phase syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8847 ! PER3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8847 {source="MONDO:mim2gene_medgen"} ! PER3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8847 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8847 {source="OMIM:616882"} [Term] id: MONDO:0014815 @@ -342415,7 +340341,6 @@ xref: UMLS:C4225168 {source="MEDGEN:903181", source="MONDO:equivalentTo", source is_a: MONDO:0019502 {source="DC-OMIM:616887", source="DOID:0081215", source="MONDO:Redundant", source="OMIM:616887"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19263 ! LMAN2L -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19263 {source="MONDO:mim2gene_medgen"} ! LMAN2L property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -342439,7 +340364,6 @@ is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease is_a: MONDO:0015161 {source="Orphanet:488232"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17797 {source="MONDO:mim2gene_medgen"} ! MAP3K20 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -342462,8 +340386,8 @@ is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:616892"} ! familial is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:616892"} ! nephrotic syndrome is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28958 ! NUP93 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28958 {source="MONDO:mim2gene_medgen"} ! NUP93 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28958 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28958 {source="OMIM:616892"} [Term] id: MONDO:0014818 @@ -342485,8 +340409,8 @@ is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:616893"} ! familial is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:616893"} ! nephrotic syndrome is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18658 ! NUP205 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18658 {source="MONDO:mim2gene_medgen"} ! NUP205 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18658 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18658 {source="OMIM:616893"} [Term] id: MONDO:0014819 @@ -342512,8 +340436,8 @@ xref: UMLS:C4225164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0008389 {source="Orphanet:3107/btnt"} ! autosomal dominant Robinow syndrome is_a: MONDO:0019978 {source="DOID:0060767", source="MONDO:Redundant", source="OMIM:616894"} ! Robinow syndrome intersection_of: MONDO:0019978 ! Robinow syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3087 ! DVL3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3087 {source="MONDO:mim2gene_medgen"} ! DVL3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3087 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3087 {source="OMIM:616894"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -342537,7 +340461,6 @@ is_a: MONDO:0004069 {source="DOID:0080336"} ! inborn mitochondrial metabolism di is_a: MONDO:0018158 {source="DC-OMIM:616896", source="DOID:0080336", source="MONDO:Redundant", source="OMIM:616896"} ! mitochondrial DNA depletion syndrome intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8140 ! OPA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8140 {source="MONDO:mim2gene_medgen"} ! OPA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -342564,7 +340487,7 @@ is_a: MONDO:0003847 {source="OMIM:616897"} ! hereditary disease is_a: MONDO:0018230 {source="Orphanet:457378"} ! skeletal dysplasia relationship: disease_has_feature HP:0004349 {source="Orphanet:457378"} ! Reduced bone mineral density relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:457378", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26887 {source="MONDO:mim2gene_medgen"} ! TAPT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26887 {source="OMIM:616897"} [Term] id: MONDO:0014822 @@ -342615,7 +340538,7 @@ xref: UMLS:C5567480 {source="MEDGEN:1798903", source="MONDO:equivalentTo", sourc is_a: MONDO:0014176 {source="DC-OMIM:616900", source="OMIM:616900"} ! hypotonia, infantile, with psychomotor retardation and characteristic facies is_a: MONDO:0015159 {source="MONDO:Redundant", source="Orphanet:488632"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488632", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28261 {source="MONDO:mim2gene_medgen"} ! TBCK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28261 {source="OMIM:616900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -342655,6 +340578,7 @@ synonym: "THIOPURINES, poor metabolism OF, 2" RELATED [OMIM:616903] synonym: "Thiopurines, poor metabolism Of, 2" RELATED [OMIM:616903] synonym: "THPM2" RELATED ABBREVIATION [OMIM:616903] xref: OMIM:616903 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23063 {source="OMIM:616903"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI is_obsolete: true @@ -342683,7 +340607,7 @@ xref: Orphanet:488594 {source="MONDO:equivalentTo"} xref: UMLS:C5567483 {source="MEDGEN:1798906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DC-OMIM:616907", source="DOID:0110821", source="EFO:0009019/inferred", source="MONDO:Redundant", source="OMIM:616907", source="Orphanet:488594/inferred"} ! hereditary spastic paraplegia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1476 {source="MONDO:mim2gene_medgen"} ! CAPN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1476 {source="OMIM:616907"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -342710,10 +340634,10 @@ xref: OMIM:616910 {source="DOID:0090010", source="MONDO:equivalentTo"} xref: UMLS:C4310799 {source="MEDGEN:934766", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000133 {source="DC-OMIM:616910", source="DOID:0090010", source="MONDO:Redundant", source="OMIM:616910"} ! immunodeficiency-centromeric instability-facial anomalies syndrome intersection_of: MONDO:0000133 ! immunodeficiency-centromeric instability-facial anomalies syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14628 ! CDCA7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14628 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014828 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616910"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14628 {source="MONDO:mim2gene_medgen"} ! CDCA7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14628 {source="OMIM:616910"} [Term] id: MONDO:0014829 @@ -342739,10 +340663,10 @@ xref: OMIM:616911 {source="DOID:0090011", source="MONDO:equivalentTo"} xref: UMLS:C4310798 {source="MEDGEN:934765", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000133 {source="DC-OMIM:616911", source="DOID:0090011", source="MONDO:Redundant", source="OMIM:616911"} ! immunodeficiency-centromeric instability-facial anomalies syndrome intersection_of: MONDO:0000133 ! immunodeficiency-centromeric instability-facial anomalies syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4861 ! HELLS +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4861 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014829 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616911"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4861 {source="MONDO:mim2gene_medgen"} ! HELLS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4861 {source="OMIM:616911"} [Term] id: MONDO:0014830 @@ -342767,9 +340691,9 @@ xref: Orphanet:466806 {source="MONDO:equivalentTo", source="DOID:0111055"} xref: UMLS:C4310797 {source="MEDGEN:934764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000009 {source="DC-OMIM:616913", source="DOID:0111055", source="MONDO:Redundant", source="OMIM:616913"} ! inherited bleeding disorder, platelet-type intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32689 ! SLFN14 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32689 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014830 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32689 {source="MONDO:mim2gene_medgen"} ! SLFN14 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32689 {source="OMIM:616913"} [Term] id: MONDO:0014831 @@ -342792,7 +340716,6 @@ xref: Orphanet:300382 {source="MONDO:equivalentTo"} xref: UMLS:C4310796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934763"} is_a: MONDO:0003847 {source="Orphanet:300382/inferred"} ! hereditary disease is_a: MONDO:0023603 {source="https://orcid.org/0000-0002-1780-5230"} ! hereditary disorder of connective tissue -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1 [Term] id: MONDO:0014832 @@ -342826,7 +340749,6 @@ is_a: MONDO:0017748 {source="Orphanet:488635"} ! inborn disorder of glycosphingo relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process relationship: excluded_subClassOf MONDO:0019502 {source="DC-OMIM:616917", source="OMIM:616917", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive non-syndromic intellectual disability relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25985 {source="MONDO:mim2gene_medgen"} ! PIGG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -342840,7 +340762,6 @@ xref: MEDGEN:934760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616920 {source="MONDO:equivalentTo"} xref: UMLS:C4310793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934760"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25763 {source="MONDO:mim2gene_medgen"} ! SMG9 [Term] id: MONDO:0014834 @@ -342870,7 +340791,6 @@ xref: UMLS:C4310791 {source="MEDGEN:934758", source="MONDO:equivalentTo", source is_a: MONDO:0000211 {source="DC-OMIM:616922", source="MONDO:Redundant", source="OMIM:616922"} ! striatal degeneration, autosomal dominant intersection_of: MONDO:0000211 ! striatal degeneration, autosomal dominant intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8772 ! PDE10A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8772 {source="MONDO:mim2gene_medgen"} ! PDE10A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -342899,7 +340819,6 @@ is_a: MONDO:0018993 {source="DOID:0110180"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7737 ! NEFH relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014836 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7737 {source="MONDO:mim2gene_medgen"} ! NEFH [Term] id: MONDO:0014837 @@ -342926,7 +340845,6 @@ is_a: MONDO:0100241 {source="DC-OMIM:616937", source="MONDO:Redundant", source=" intersection_of: MONDO:0100241 ! inherited thrombocytopenia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11283 ! SRC relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014837 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11283 {source="MONDO:mim2gene_medgen"} ! SRC [Term] id: MONDO:0014838 @@ -342950,7 +340868,6 @@ is_a: MONDO:0015452 {source="DC-OMIM:616938", source="DOID:0112368", source="MON is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy intersection_of: MONDO:0015452 ! Coffin-Siris syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11109 ! SMARCE1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11109 {source="OMIM:616938", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! SMARCE1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -342966,7 +340883,7 @@ xref: MEDGEN:934754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616939 {source="MONDO:equivalentTo"} xref: UMLS:C4310787 {source="MEDGEN:934754", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4539 {source="MONDO:mim2gene_medgen"} ! GPR88 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4539 {source="OMIM:616939"} [Term] id: MONDO:0014840 @@ -342990,7 +340907,6 @@ is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! a is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:616941"} ! agammaglobulinemia intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11633 ! TCF3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11633 {source="MONDO:mim2gene_medgen"} ! TCF3 [Term] id: MONDO:0014841 @@ -343011,8 +340927,8 @@ xref: OMIM:616943 {source="MONDO:equivalentTo"} xref: UMLS:C4310785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934752"} is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:616943"} ! trichothiodystrophy intersection_of: MONDO:0018053 ! trichothiodystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4651 ! GTF2E2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4651 {source="MONDO:mim2gene_medgen"} ! GTF2E2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4651 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4651 {source="OMIM:616943"} [Term] id: MONDO:0014842 @@ -343040,7 +340956,6 @@ is_a: MONDO:0015802 {source="DC-OMIM:616944", source="DOID:0070071", source="MON intersection_of: MONDO:0015802 ! autosomal dominant non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29529 ! TBL1XR1 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29529 {source="MONDO:mim2gene_medgen"} ! TBL1XR1 [Term] id: MONDO:0014843 @@ -343064,7 +340979,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0019852 {source="DC-OMIM:616946", source="OMIM:616946"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 ! ERCC6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 {source="MONDO:mim2gene_medgen"} ! ERCC6 [Term] id: MONDO:0014844 @@ -343086,7 +341000,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0019852 {source="DC-OMIM:616947", source="OMIM:616947"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28852 ! SYCE1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28852 {source="MONDO:mim2gene_medgen"} ! SYCE1 [Term] id: MONDO:0014845 @@ -343107,8 +341020,8 @@ xref: OMIM:616948 {source="MONDO:equivalentTo"} xref: UMLS:C4310781 {source="MONDO:equivalentTo", source="MEDGEN:934748", source="MONDO:MEDGEN"} is_a: MONDO:0015244 {source="DOID:0111614", source="MONDO:Redundant", source="OMIM:616948", source="https://orcid.org/0000-0002-6601-2165"} ! autosomal recessive cerebellar ataxia intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28385 ! VWA3B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28385 {source="MONDO:mim2gene_medgen"} ! VWA3B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28385 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28385 {source="OMIM:616948"} [Term] id: MONDO:0014846 @@ -343132,7 +341045,7 @@ xref: OMIM:616949 {source="MONDO:equivalentTo", source="Orphanet:404493", source xref: Orphanet:404493 {source="MONDO:equivalentTo"} xref: UMLS:C4750914 {source="MEDGEN:1667331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018446 {source="Orphanet:404493"} ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17768 {source="MONDO:mim2gene_medgen"} ! TDP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17768 {source="OMIM:616949"} [Term] id: MONDO:0014847 @@ -343157,7 +341070,6 @@ intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28852 ! SYCE1 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28852 ! SYCE1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28852 {source="MONDO:mim2gene_medgen"} ! SYCE1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28852 {source="MONDO:mim2gene_medgen"} ! SYCE1 [Term] id: MONDO:0014848 @@ -343191,7 +341103,7 @@ relationship: excluded_subClassOf MONDO:0015368 {source="Orphanet:488642", sourc relationship: excluded_subClassOf MONDO:0015620 {source="Orphanet:495875", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic urogenital tract malformation relationship: excluded_subClassOf MONDO:0020215 {source="Orphanet:495875", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic corneal dystrophy relationship: excluded_subClassOf MONDO:0020240 {source="Orphanet:494439", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic retinitis pigmentosa -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29099 {source="MONDO:mim2gene_medgen"} ! TELO2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29099 {source="OMIM:616954"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -343214,7 +341126,6 @@ xref: MEDGEN:934743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616959 {source="MONDO:equivalentTo"} xref: UMLS:C4310776 {source="MEDGEN:934743", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17341 {source="MONDO:mim2gene_medgen"} ! TRNT1 [Term] id: MONDO:0014851 @@ -343236,7 +341147,6 @@ xref: UMLS:C4310473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000212 {source="MONDO:Redundant", source="OMIM:616963", source="Orphanet:300547/btnt"} ! hypercalcemia, infantile intersection_of: MONDO:0000212 ! hypercalcemia, infantile intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11019 ! SLC34A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11019 {source="MONDO:mim2gene_medgen"} ! SLC34A1 [Term] id: MONDO:0014852 @@ -343271,8 +341181,8 @@ xref: OMIM:616968 {source="MONDO:equivalentTo", source="DOID:0110592"} xref: UMLS:C4310775 {source="MEDGEN:934742", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019587 {source="DC-OMIM:616968", source="DOID:0110592", source="MONDO:Redundant", source="OMIM:616968"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6944 ! MCM2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6944 {source="MONDO:mim2gene_medgen"} ! MCM2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6944 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6944 {source="OMIM:616968"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -343299,8 +341209,8 @@ xref: OMIM:616969 {source="MONDO:equivalentTo", source="DOID:0110587"} xref: UMLS:C4283893 {source="MEDGEN:924418", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019587 {source="DC-OMIM:616969", source="DOID:0110587", source="MONDO:Redundant", source="OMIM:616969"} ! autosomal dominant nonsyndromic hearing loss intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1632 ! CD164 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1632 {source="MONDO:mim2gene_medgen"} ! CD164 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1632 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1632 {source="OMIM:616969"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -343336,7 +341246,6 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o relationship: excluded_subClassOf MONDO:0015802 {source="DC-OMIM:616973", source="DOID:0070072", source="OMIM:616973", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: excluded_subClassOf MONDO:0024252 {source="Orphanet:488613", source="https://orcid.org/0000-0001-5208-3432"} ! global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4396 {source="MONDO:mim2gene_medgen"} ! GNB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6600" xsd:anyURI @@ -343363,8 +341272,8 @@ xref: UMLS:C5567605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000732 {source="DC-OMIM:616974", source="DOID:0111471", source="MONDO:Redundant", source="OMIM:616974"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26022 ! TRMT10C -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26022 {source="MONDO:mim2gene_medgen"} ! TRMT10C +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26022 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26022 {source="OMIM:616974"} [Term] id: MONDO:0014857 @@ -343387,7 +341296,7 @@ xref: Orphanet:494344 {source="MONDO:equivalentTo"} xref: UMLS:C4310772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934739"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9965 {source="MONDO:mim2gene_medgen"} ! RERE +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9965 {source="OMIM:616975"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -343418,9 +341327,9 @@ xref: SCTID:765434008 {source="MONDO:equivalentTo"} xref: UMLS:C4310771 {source="MEDGEN:934738", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015802 {source="DC-OMIM:616977", source="DOID:0070073", source="MONDO:Redundant", source="OMIM:616977"} ! autosomal dominant non-syndromic intellectual disability intersection_of: MONDO:0015802 ! autosomal dominant non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4921 ! HIVEP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4921 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4921 {source="MONDO:mim2gene_medgen"} ! HIVEP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4921 {source="OMIM:616977"} [Term] id: MONDO:0014859 @@ -343443,8 +341352,8 @@ xref: OMIM:616981 {source="MONDO:equivalentTo"} xref: UMLS:C4310770 {source="MONDO:equivalentTo", source="MEDGEN:934737", source="MONDO:MEDGEN"} is_a: MONDO:0100062 {source="DC-OMIM:616981", source="DOID:0080435", source="MONDO:Redundant", source="OMIM:616981"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1362 ! FRRS1L -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1362 {source="MONDO:mim2gene_medgen"} ! FRRS1L +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1362 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1362 {source="OMIM:616981"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -343467,7 +341376,7 @@ is_a: MONDO:0000447 {source="MONDO:0014860/inferred", source="MONDO:Redundant", relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014860 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0008265 {source="Orphanet:2924/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! polycystic liver disease 1 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:617004"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21082 {source="MONDO:mim2gene_medgen", source="PMID:29038287", source="https://github.com/monarch-initiative/mondo/issues/1882"} ! SEC63 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21082 {source="OMIM:617004"} [Term] id: MONDO:0014861 @@ -343485,7 +341394,6 @@ xref: UMLS:C4310768 {source="MEDGEN:934735", source="MONDO:equivalentTo", source is_a: MONDO:0000213 {source="DC-OMIM:617006", source="MONDO:Redundant", source="OMIM:617006"} ! autoimmune disease, multisystem, infantile-onset intersection_of: MONDO:0000213 ! autoimmune disease, multisystem, infantile-onset intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12858 ! ZAP70 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12858 {source="MONDO:mim2gene_medgen"} ! ZAP70 [Term] id: MONDO:0014862 @@ -343507,8 +341415,8 @@ xref: UMLS:C4310767 {source="MEDGEN:934734", source="MONDO:equivalentTo", source is_a: MONDO:0016215 {source="DC-OMIM:617008", source="DOID:0081361", source="MONDO:Redundant", source="OMIM:617008"} ! spastic quadriplegic cerebral palsy is_a: MONDO:0100516 {source="https://www.clinicalgenome.org/affiliation/40113/"} ! complex neurodevelopmental disorder with motor features intersection_of: MONDO:0016215 ! spastic quadriplegic cerebral palsy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/245 ! ADD3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/245 {source="MONDO:mim2gene_medgen"} ! ADD3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/245 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/245 {source="OMIM:617008"} [Term] id: MONDO:0014863 @@ -343521,7 +341429,7 @@ xref: MEDGEN:934733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617011 {source="MONDO:equivalentTo"} xref: UMLS:C4310766 {source="MEDGEN:934733", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4867 {source="MONDO:mim2gene_medgen"} ! HERC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4867 {source="OMIM:617011"} [Term] id: MONDO:0014864 @@ -343552,7 +341460,6 @@ is_a: MONDO:0017766 {source="Orphanet:521406"} ! disorder of manganese transport intersection_of: MONDO:0000214 ! hypermanganesemia with dystonia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20858 ! SLC39A14 relationship: has_characteristic HP:0000007 {source="Orphanet:521406"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20858 {source="MONDO:mim2gene_medgen", source="Orphanet:521406"} ! SLC39A14 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI [Term] @@ -343580,7 +341487,6 @@ intersection_of: MONDO:0018542 ! severe congenital neutropenia intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2439 ! CSF3R relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2439 {source="MONDO:mim2gene_medgen"} ! CSF3R [Term] id: MONDO:0014866 @@ -343640,7 +341546,6 @@ xref: UMLS:C4310763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020380 {source="DC-OMIM:617018", source="DOID:0111745", source="EFO:0009060/inferred", source="MONDO:Redundant", source="OMIM:617018", source="Orphanet:497764/inferred"} ! autosomal dominant cerebellar ataxia intersection_of: MONDO:0020380 ! autosomal dominant cerebellar ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7154 ! MME -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7154 {source="MONDO:mim2gene_medgen"} ! MME [Term] id: MONDO:0014868 @@ -343664,8 +341569,8 @@ xref: OMIM:617020 {source="MONDO:equivalentTo"} xref: UMLS:C4310762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934729"} is_a: MONDO:0100062 {source="DC-OMIM:617020", source="DOID:0080417", source="MONDO:Redundant", source="OMIM:617020"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29561 ! ARV1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29561 {source="MONDO:mim2gene_medgen"} ! ARV1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29561 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29561 {source="OMIM:617020"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -343686,7 +341591,6 @@ xref: Orphanet:528091 {source="MONDO:equivalentTo"} xref: UMLS:C4310761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934728"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17095 {source="MONDO:mim2gene_medgen"} ! LARS2 [Term] id: MONDO:0014870 @@ -343711,7 +341615,6 @@ xref: UMLS:C5568141 {source="MONDO:equivalentTo", source="MEDGEN:1799564", sourc is_a: MONDO:0015929 {source="Orphanet:464366"} ! thoracic malformation is_a: MONDO:0017436 {source="DC-OMIM:617022", source="OMIM:617022"} ! lethal congenital contracture syndrome is_a: MONDO:0019691 {source="Orphanet:464366"} ! short rib dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18591 {source="MONDO:mim2gene_medgen"} ! NEK9 [Term] id: MONDO:0014871 @@ -343733,8 +341636,8 @@ xref: OMIM:617023 {source="MONDO:equivalentTo", source="DOID:0110361"} xref: UMLS:C4310759 {source="MONDO:equivalentTo", source="MEDGEN:934726", source="MONDO:MEDGEN"} is_a: MONDO:0019200 {source="DC-OMIM:617023", source="DOID:0110361", source="MONDO:Redundant", source="OMIM:617023"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26147 ! AGBL5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26147 {source="MONDO:mim2gene_medgen"} ! AGBL5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26147 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26147 {source="OMIM:617023"} [Term] id: MONDO:0014872 @@ -343755,7 +341658,6 @@ xref: UMLS:C4310758 {source="MEDGEN:934725", source="MONDO:equivalentTo", source is_a: MONDO:0016293 {source="DC-OMIM:617024", source="DOID:0110866", source="MONDO:Redundant", source="OMIM:617024"} ! congenital stationary night blindness intersection_of: MONDO:0016293 ! congenital stationary night blindness intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4400 ! GNB3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4400 {source="MONDO:mim2gene_medgen"} ! GNB3 [Term] id: MONDO:0014873 @@ -343785,7 +341687,6 @@ xref: SCTID:35962006 {source="MONDO:equivalentTo"} xref: UMLS:C0265987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75592"} is_a: MONDO:0005073 {source="Orphanet:64754"} ! melanocytic nevus is_a: MONDO:0100118 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary skin disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18591 {source="MONDO:mim2gene_medgen"} ! NEK9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -343809,8 +341710,8 @@ xref: UMLS:C4310757 {source="MEDGEN:934724", source="MONDO:equivalentTo", source is_a: MONDO:0016759 {source="DOID:0112329", source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 is_a: MONDO:0020135 {source="MONDO:Redundant", source="OMIM:617026"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16791 ! TSEN15 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16791 {source="MONDO:mim2gene_medgen"} ! TSEN15 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16791 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16791 {source="OMIM:617026"} [Term] id: MONDO:0014875 @@ -343832,7 +341733,6 @@ xref: OMIM:617027 {source="MONDO:equivalentTo"} xref: Orphanet:642671 {source="MONDO:equivalentTo"} xref: UMLS:C4310756 {source="MEDGEN:934723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016525 {source="OMIM:617027", source="Orphanet:642671"} ! familial hyperaldosteronism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1395 {source="MONDO:mim2gene_medgen"} ! CACNA1H [Term] id: MONDO:0014876 @@ -343856,8 +341756,8 @@ xref: OMIM:617028 {source="MONDO:equivalentTo"} xref: UMLS:C4310755 {source="MEDGEN:934722", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DC-OMIM:617028", source="DOID:0081216", source="MONDO:Redundant", source="OMIM:617028"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30765 ! TNIK -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30765 {source="MONDO:mim2gene_medgen"} ! TNIK +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30765 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30765 {source="OMIM:617028"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -343883,8 +341783,8 @@ xref: Orphanet:482601 {source="MONDO:equivalentTo"} xref: UMLS:C5567521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798944"} is_a: MONDO:0018949 {source="DC-OMIM:617030", source="MONDO:Redundant", source="OMIM:617030"} ! distal myopathy intersection_of: MONDO:0018949 ! distal myopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20093 ! ADSS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20093 {source="MONDO:mim2gene_medgen"} ! ADSS1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20093 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20093 {source="OMIM:617030"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5762" xsd:anyURI [Term] @@ -343903,7 +341803,6 @@ xref: MEDGEN:924886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617035 {source="MONDO:equivalentTo"} xref: UMLS:C4284595 {source="MEDGEN:924886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011827 {source="DC-OMIM:617035", source="OMIM:617035"} ! patent ductus arteriosus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11743 {source="MONDO:mim2gene_medgen"} ! TFAP2B [Term] id: MONDO:0014879 @@ -343932,7 +341831,6 @@ xref: UMLS:C4310752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0007473 {source="MONDO:Redundant", source="OMIM:617041", source="Orphanet:233/btnt"} ! Duane retraction syndrome intersection_of: MONDO:0007473 ! Duane retraction syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6408 ! MAFB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6408 {source="MONDO:mim2gene_medgen"} ! MAFB property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10691/duane-syndrome-type-3" xsd:anyURI {source="GARD:0010691"} [Term] @@ -343958,7 +341856,7 @@ is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0015159 {source="Orphanet:488618"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019231 {source="Orphanet:488618", source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488618", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11834 {source="MONDO:mim2gene_medgen"} ! TKT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11834 {source="OMIM:617044"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -343990,7 +341888,6 @@ is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0019064 {source="DC-OMIM:617046", source="DOID:0110822", source="MONDO:Redundant", source="OMIM:617046"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21062 ! FARS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21062 {source="MONDO:mim2gene_medgen"} ! FARS2 [Term] id: MONDO:0014883 @@ -344017,7 +341914,6 @@ is_a: MONDO:0005045 {source="DC-OMIM:617047", source="DOID:0110327", source="MON is_a: MONDO:0024573 {source="DOID:0110327", source="MONDO:OMIM", source="OMIM:617047"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3756 ! FLNC -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3756 {source="MONDO:mim2gene_medgen"} ! FLNC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -344046,8 +341942,8 @@ xref: UMLS:C4310747 {source="MEDGEN:934714", source="MONDO:equivalentTo", source is_a: MONDO:0001751 {source="DC-OMIM:617049", source="MONDO:Redundant", source="MONDO:indirect"} ! cholestasis is_a: MONDO:0015762 {source="DOID:0070225", source="MONDO:Redundant", source="OMIM:617049", source="Orphanet:480476"} ! progressive familial intrahepatic cholestasis intersection_of: MONDO:0015762 ! progressive familial intrahepatic cholestasis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7967 ! NR1H4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7967 {source="MONDO:mim2gene_medgen"} ! NR1H4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7967 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7967 {source="OMIM:617049"} [Term] id: MONDO:0014885 @@ -344072,9 +341968,9 @@ xref: Orphanet:664511 {source="MONDO:equivalentTo"} xref: UMLS:C4310746 {source="MEDGEN:934713", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019312 {source="DC-OMIM:617050", source="MONDO:Redundant", source="OMIM:617050"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/568 ! AP3D1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/568 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014885 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/568 {source="MONDO:mim2gene_medgen"} ! AP3D1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/568 {source="OMIM:617050"} [Term] id: MONDO:0014886 @@ -344101,7 +341997,7 @@ is_a: MONDO:0015159 {source="Orphanet:488627"} ! multiple congenital anomalies/d is_a: MONDO:0019289 {source="Orphanet:488627"} ! hyperpigmentation of the skin relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488627", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0019502 {source="DC-OMIM:617051", source="OMIM:617051", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive non-syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25461 {source="MONDO:mim2gene_medgen"} ! PUS3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25461 {source="OMIM:617051"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -344123,8 +342019,8 @@ xref: UMLS:C4310744 {source="MEDGEN:934711", source="MONDO:equivalentTo", source is_a: MONDO:0000159 {source="DC-OMIM:617052", source="MONDO:Redundant", source="OMIM:617052"} ! bone marrow failure syndrome is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000159 ! bone marrow failure syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27030 ! DNAJC21 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27030 {source="MONDO:mim2gene_medgen"} ! DNAJC21 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27030 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27030 {source="OMIM:617052"} [Term] id: MONDO:0014888 @@ -344149,7 +342045,6 @@ xref: Orphanet:494433 {source="MONDO:equivalentTo"} xref: UMLS:C4284088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:924576"} is_a: MONDO:0002254 {source="NCIT:C147530"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1348 {source="MONDO:mim2gene_medgen"} ! SAMD9 [Term] id: MONDO:0014889 @@ -344175,7 +342070,7 @@ is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease is_a: MONDO:0005559 {source="Orphanet:497906"} ! neurodegenerative disease is_a: MONDO:0024237 {source="Orphanet:497906"} ! inherited neurodegenerative disorder is_a: MONDO:0044807 {source="MONDO:0018265-obsoleted"} ! inherited dystonia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25507 {source="MONDO:mim2gene_medgen"} ! VAC14 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25507 {source="OMIM:617054"} [Term] id: MONDO:0014890 @@ -344205,7 +342100,6 @@ xref: UMLS:C4310742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015526 {source="DC-OMIM:617055", source="DOID:0080331", source="MONDO:Redundant", source="OMIM:617055"} ! cold-induced sweating syndrome intersection_of: MONDO:0015526 ! cold-induced sweating syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15646 ! KLHL7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15646 {source="MONDO:mim2gene_medgen"} ! KLHL7 [Term] id: MONDO:0014891 @@ -344227,7 +342121,6 @@ is_a: MONDO:0000608 {source="DC-OMIM:617056", source="MONDO:Redundant", source=" is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000608 ! familial juvenile hyperuricemic nephropathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18276 ! SEC61A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18276 {source="MONDO:mim2gene_medgen"} ! SEC61A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -344260,7 +342153,6 @@ is_a: MONDO:0015159 {source="Orphanet:476126"} ! multiple congenital anomalies/d is_a: MONDO:0100172 {source="OMIM:617061"} ! intellectual disability, autosomal dominant relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070074", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12303 {source="MONDO:mim2gene_medgen"} ! TRIO property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -344276,7 +342168,7 @@ xref: OMIM:617062 {source="MONDO:equivalentTo"} xref: UMLS:C4310739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934706"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2457 {source="MONDO:mim2gene_medgen"} ! CSNK2A1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2457 {source="OMIM:617062"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -344300,10 +342192,10 @@ xref: OMIM:617063 {source="MONDO:equivalentTo"} xref: UMLS:C4310738 {source="MEDGEN:934705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016817 {source="DC-OMIM:617063", source="DOID:0080518", source="MONDO:Redundant", source="OMIM:617063"} ! Meier-Gorlin syndrome intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1739 ! CDC45 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1739 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014894 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617063"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1739 {source="MONDO:mim2gene_medgen"} ! CDC45 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1739 {source="OMIM:617063"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -344329,8 +342221,8 @@ xref: UMLS:C4310737 {source="MONDO:equivalentTo", source="MEDGEN:934704", source is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome is_a: MONDO:0100062 {source="DC-OMIM:617065", source="DOID:0080427", source="MONDO:Redundant", source="OMIM:617065"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25799 ! GUF1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25799 {source="MONDO:mim2gene_medgen"} ! GUF1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25799 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25799 {source="OMIM:617065"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -344351,7 +342243,6 @@ xref: UMLS:C4310736 {source="MEDGEN:934703", source="MONDO:equivalentTo", source is_a: MONDO:0019950 {source="Orphanet:486815"} ! congenital muscular dystrophy is_a: MONDO:0020121 {source="DC-OMIM:617066", source="MONDO:Redundant", source="Orphanet:486815/inferred"} ! muscular dystrophy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12310 {source="MONDO:mim2gene_medgen"} ! TRIP4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -344384,7 +342275,6 @@ is_a: MONDO:0000090 {source="DC-OMIM:617069", source="OMIM:617069"} ! progressiv is_a: MONDO:0016810 {source="MONDO:Redundant", source="Orphanet:254886/btnt"} ! autosomal recessive progressive external ophthalmoplegia intersection_of: MONDO:0016810 ! autosomal recessive progressive external ophthalmoplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11831 ! TK2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11831 {source="MONDO:mim2gene_medgen"} ! TK2 [Term] id: MONDO:0014899 @@ -344413,7 +342303,6 @@ xref: UMLS:C4310733 {source="MEDGEN:934700", source="MONDO:equivalentTo", source is_a: MONDO:0000090 {source="DC-OMIM:617070", source="OMIM:617070"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions is_a: MONDO:0009637 {source="Orphanet:329314", source="https://orcid.org/0000-0001-5208-3432"} ! inborn mitochondrial myopathy relationship: excluded_subClassOf MONDO:0018158 {source="Orphanet:329314", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2858 {source="MONDO:mim2gene_medgen"} ! DGUOK [Term] id: MONDO:0014900 @@ -344445,8 +342334,8 @@ xref: SCTID:725907002 {source="MONDO:equivalentTo"} xref: UMLS:C4511482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385152"} is_a: MONDO:0015152 {source="DOID:0110289", source="MONDO:Redundant", source="OMIM:617072", source="Orphanet:424261"} ! autosomal recessive limb-girdle muscular dystrophy intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29456 ! TOR1AIP1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29456 {source="MONDO:mim2gene_medgen"} ! TOR1AIP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29456 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29456 {source="OMIM:617072"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -344469,7 +342358,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005486 {source="DC-OMIM:617073", source="MONDO:Redundant", source="OMIM:617073"} ! tooth agenesis intersection_of: MONDO:0005486 ! tooth agenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12775 ! WNT10B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12775 {source="MONDO:mim2gene_medgen"} ! WNT10B [Term] id: MONDO:0014902 @@ -344489,9 +342377,9 @@ xref: MEDGEN:934696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617075 {source="MONDO:equivalentTo"} xref: UMLS:C4310729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934696"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7381 ! MST1R +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7381 intersection_of: predisposes_towards MONDO:0015459 ! nasopharyngeal carcinoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7381 {source="MONDO:mim2gene_medgen"} ! MST1R +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7381 {source="OMIM:617075"} [Term] id: MONDO:0014903 @@ -344515,7 +342403,6 @@ xref: UMLS:C4310728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017615 {source="DC-OMIM:617080", source="DOID:0081118", source="MONDO:Redundant", source="OMIM:617080"} ! benign familial infantile epilepsy intersection_of: MONDO:0017615 ! benign familial infantile epilepsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 ! SCN8A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 {source="MONDO:mim2gene_medgen"} ! SCN8A [Term] id: MONDO:0014904 @@ -344532,7 +342419,6 @@ xref: OMIM:617082 {source="MONDO:equivalentTo"} xref: UMLS:C4310727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934694"} is_a: MONDO:0005500 {source="DC-OMIM:617082", source="DOID:0080553", source="OMIM:617082"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MONDO:Redundant", source="OMIM:617082"} ! congenital disorder of glycosylation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21042 {source="MONDO:mim2gene_medgen"} ! NUS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -344559,7 +342445,7 @@ is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0054865 {source="OMIM:617086", source="Orphanet:485421", source="https://www.clinicalgenome.org/affiliation/40049/"} ! encephalopathy due to mitochondrial and peroxisomal fission defect is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:485421", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24858 {source="MONDO:mim2gene_medgen"} ! MFF +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24858 {source="OMIM:617086"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI @@ -344581,7 +342467,6 @@ xref: NCIT:C150647 {source="MONDO:equivalentTo"} xref: OMIM:617087 {source="MONDO:equivalentTo"} xref: UMLS:C4310725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934692"} is_a: MONDO:0015626 {source="DC-OMIM:617087", source="NCIT:C150647/inferred", source="OMIM:617087"} ! Charcot-Marie-Tooth disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16877 {source="MONDO:mim2gene_medgen"} ! MFN2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -344598,7 +342483,7 @@ xref: MEDGEN:934691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617088 {source="MONDO:equivalentTo"} xref: UMLS:C4310724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934691"} is_a: MONDO:0018770 {source="OMIM:617088", source="Orphanet:474/btnt"} ! Jeune syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24595 {source="MONDO:mim2gene_medgen"} ! DYNC2LI1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24595 {source="OMIM:617088"} [Term] id: MONDO:0014908 @@ -344621,8 +342506,8 @@ xref: OMIM:617090 {source="MONDO:equivalentTo"} xref: UMLS:C4310723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934690"} is_a: MONDO:0016660 {source="DC-OMIM:617090", source="DOID:0070288", source="MONDO:Redundant", source="OMIM:617090"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1985 ! CIT -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1985 {source="MONDO:mim2gene_medgen"} ! CIT +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1985 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1985 {source="OMIM:617090"} [Term] id: MONDO:0014909 @@ -344646,8 +342531,8 @@ xref: OMIM:617091 {source="DOID:0110610", source="MONDO:equivalentTo"} xref: UMLS:C4310722 {source="MEDGEN:934689", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:617091", source="DOID:0110610", source="MONDO:Redundant", source="OMIM:617091"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30718 ! DNAJB13 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30718 {source="MONDO:mim2gene_medgen"} ! DNAJB13 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30718 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30718 {source="OMIM:617091"} [Term] id: MONDO:0014910 @@ -344672,9 +342557,9 @@ xref: OMIM:617092 {source="MONDO:equivalentTo", source="DOID:0110620"} xref: UMLS:C4310721 {source="MEDGEN:934688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DC-OMIM:617092", source="DOID:0110620", source="MONDO:Redundant", source="OMIM:617092"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25280 ! ODAD4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25280 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014910 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25280 {source="MONDO:mim2gene_medgen"} ! ODAD4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25280 {source="OMIM:617092"} [Term] id: MONDO:0014911 @@ -344698,7 +342583,7 @@ xref: UMLS:C4310720 {source="MEDGEN:934687", source="MONDO:equivalentTo", source is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0003847 {source="EFO:0009155"} ! hereditary disease relationship: has_characteristic HP:0000007 {source="Orphanet:541423"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5330 {source="MONDO:mim2gene_medgen", source="Orphanet:541423"} ! IARS1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5330 {source="OMIM:617093"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI @@ -344731,7 +342616,6 @@ is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease is_a: MONDO:0005046 {source="DOID:0080163"} ! immune system disorder is_a: MONDO:0017953 {source="Orphanet:500062"} ! hereditary periodic fever syndrome relationship: has_characteristic HP:0003593 ! Infantile onset -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25118 {source="MONDO:mim2gene_medgen"} ! OTULIN property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13198/otulipenia" xsd:anyURI {source="GARD:0013198"} [Term] @@ -344765,7 +342649,7 @@ xref: UMLS:C4310833 {source="MEDGEN:934800", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014914 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13221 {source="MONDO:mim2gene_medgen"} ! BCL11A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13221 {source="OMIM:617101"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI [Term] @@ -344784,7 +342668,7 @@ xref: UMLS:C4310718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0009032 {source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia is_a: MONDO:0018770 {source="OMIM:617102"} ! Jeune syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617102"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15901 {source="MONDO:mim2gene_medgen"} ! IFT52 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15901 {source="OMIM:617102"} [Term] id: MONDO:0014916 @@ -344813,9 +342697,9 @@ is_a: MONDO:0016022 {source="Orphanet:1935/btnt"} ! early myoclonic encephalopat is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:617105", source="MONDO:Redundant", source="OMIM:617105"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10940 ! SLC1A2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10940 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014916 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10940 {source="MONDO:mim2gene_medgen"} ! SLC1A2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10940 {source="OMIM:617105"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -344843,7 +342727,6 @@ is_a: MONDO:0100062 {source="DC-OMIM:617106", source="MONDO:Redundant", source=" is_a: MONDO:0100254 {source="https://clinicalgenome.org/affiliation/40006/"} ! CACNA1A-related complex neurodevelopmental disorder intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 ! CACNA1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 {source="MONDO:mim2gene_medgen"} ! CACNA1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5753" xsd:anyURI @@ -344867,7 +342750,7 @@ xref: UMLS:C4310715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015159 {source="Orphanet:500095"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500095", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3705 {source="MONDO:mim2gene_medgen"} ! FIBP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3705 {source="OMIM:617107"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -344886,7 +342769,7 @@ xref: OMIM:617108 {source="MONDO:equivalentTo"} xref: UMLS:C4310714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934681"} is_a: MONDO:0015524 {source="Orphanet:157798/btnt"} ! hyperplastic polyposis syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014919 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18505 {source="MONDO:mim2gene_medgen"} ! RNF43 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18505 {source="OMIM:617108"} [Term] id: MONDO:0014920 @@ -344914,8 +342797,8 @@ xref: Orphanet:466718 {source="MONDO:equivalentTo"} xref: UMLS:C4310713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934680"} is_a: MONDO:0020381 {source="DOID:0060865", source="MONDO:Redundant", source="OMIM:617111"} ! patterned macular dystrophy intersection_of: MONDO:0020381 ! patterned macular dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6888 ! MAPKAPK3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6888 {source="MONDO:mim2gene_medgen"} ! MAPKAPK3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6888 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6888 {source="OMIM:617111"} [Term] id: MONDO:0014921 @@ -344941,7 +342824,6 @@ is_a: MONDO:0016532 {source="Orphanet:2382/btnt"} ! Lennox-Gastaut syndrome is_a: MONDO:0100062 {source="DC-OMIM:617113", source="MONDO:Redundant", source="OMIM:617113"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4083 ! GABRB3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4083 {source="MONDO:mim2gene_medgen"} ! GABRB3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -344962,8 +342844,8 @@ xref: OMIM:617114 {source="DOID:0080098", source="MONDO:equivalentTo"} xref: UMLS:C4310711 {source="MEDGEN:934678", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018943 {source="DOID:0080098", source="MONDO:Redundant", source="OMIM:617114"} ! myofibrillar myopathy intersection_of: MONDO:0018943 ! myofibrillar myopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26576 ! KY -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26576 {source="MONDO:mim2gene_medgen"} ! KY +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26576 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26576 {source="OMIM:617114"} [Term] id: MONDO:0014923 @@ -344986,8 +342868,8 @@ xref: UMLS:C4310710 {source="MEDGEN:934677", source="MONDO:equivalentTo", source is_a: MONDO:0017339 {source="Orphanet:289586/btnt"} ! exfoliative ichthyosis is_a: MONDO:0019347 {source="DC-OMIM:617115", source="DOID:0070524", source="MONDO:Redundant", source="OMIM:617115"} ! peeling skin syndrome intersection_of: MONDO:0019347 ! peeling skin syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8952 ! SERPINB8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8952 {source="MONDO:mim2gene_medgen"} ! SERPINB8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8952 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8952 {source="OMIM:617115"} [Term] id: MONDO:0014924 @@ -345009,8 +342891,8 @@ xref: OMIM:617116 {source="MONDO:equivalentTo"} xref: UMLS:C4310709 {source="MEDGEN:934676", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020310 {source="DC-OMIM:617116", source="DOID:0081422", source="MONDO:Redundant", source="OMIM:617116"} ! familial focal epilepsy with variable foci intersection_of: MONDO:0020310 ! familial focal epilepsy with variable foci -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24969 ! NPRL2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24969 {source="MONDO:mim2gene_medgen"} ! NPRL2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24969 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24969 {source="OMIM:617116"} [Term] id: MONDO:0014925 @@ -345032,8 +342914,8 @@ xref: OMIM:617118 {source="MONDO:equivalentTo"} xref: UMLS:C4310708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934675"} is_a: MONDO:0020310 {source="DC-OMIM:617118", source="DOID:0081423", source="MONDO:Redundant", source="OMIM:617118"} ! familial focal epilepsy with variable foci intersection_of: MONDO:0020310 ! familial focal epilepsy with variable foci -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14124 ! NPRL3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14124 {source="MONDO:mim2gene_medgen"} ! NPRL3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14124 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14124 {source="OMIM:617118"} [Term] id: MONDO:0014926 @@ -345056,7 +342938,6 @@ is_a: MONDO:0015229 {source="DC-OMIM:617119", source="DOID:0081011", source="MON intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21424 ! IFT74 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617119"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21424 {source="MONDO:mim2gene_medgen"} ! IFT74 [Term] id: MONDO:0014927 @@ -345078,7 +342959,6 @@ xref: UMLS:C4310706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018772 {source="DC-OMIM:617120", source="DOID:0110996", source="MONDO:Redundant", source="OMIM:617120"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24123 ! B9D1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24123 {source="MONDO:mim2gene_medgen"} ! B9D1 [Term] id: MONDO:0014928 @@ -345101,7 +342981,6 @@ is_a: MONDO:0016364 {source="Orphanet:Inferred"} ! Joubert syndrome with ocular is_a: MONDO:0018772 {source="DC-OMIM:617121", source="DOID:0110997", source="MONDO:Redundant", source="OMIM:617121"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7121 ! MKS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7121 {source="MONDO:mim2gene_medgen"} ! MKS1 [Term] id: MONDO:0014929 @@ -345123,7 +343002,6 @@ xref: UMLS:C4310704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019200 {source="DC-OMIM:617123", source="MONDO:Redundant", source="OMIM:617123"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19139 ! POMGNT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19139 {source="MONDO:mim2gene_medgen"} ! POMGNT1 [Term] id: MONDO:0014930 @@ -345148,8 +343026,8 @@ xref: OMIM:617125 {source="MONDO:equivalentTo"} xref: UMLS:C4310703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934670"} is_a: MONDO:0019502 {source="DC-OMIM:617125", source="DOID:0081217", source="MONDO:Redundant", source="OMIM:617125"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20509 ! ZC3H14 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20509 {source="MONDO:mim2gene_medgen"} ! ZC3H14 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20509 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20509 {source="OMIM:617125"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -345163,7 +343041,7 @@ xref: MEDGEN:934669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617126 {source="MONDO:equivalentTo"} xref: UMLS:C4310702 {source="MEDGEN:934669", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11540 {source="MONDO:mim2gene_medgen"} ! TAF6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11540 {source="OMIM:617126"} [Term] id: MONDO:0014932 @@ -345182,7 +343060,6 @@ xref: MEDGEN:934668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617127 {source="MONDO:equivalentTo"} xref: UMLS:C4310701 {source="MEDGEN:934668", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015375 {source="OMIM:617127", source="https://orcid.org/0000-0002-6601-2165"} ! orofaciodigital syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29110 {source="MONDO:mim2gene_medgen"} ! KIAA0753 [Term] id: MONDO:0014933 @@ -345208,7 +343085,6 @@ is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset e is_a: MONDO:0100062 {source="DC-OMIM:617132", source="MONDO:Redundant", source="OMIM:617132"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23230 ! UBA5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23230 {source="MONDO:mim2gene_medgen"} ! UBA5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -345231,7 +343107,6 @@ xref: UMLS:C4310699 {source="MEDGEN:934666", source="MONDO:equivalentTo", source is_a: MONDO:0020380 {source="DC-OMIM:617133", source="MONDO:Redundant"} ! autosomal dominant cerebellar ataxia intersection_of: MONDO:0020380 ! autosomal dominant cerebellar ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23230 ! UBA5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23230 {source="MONDO:mim2gene_medgen"} ! UBA5 [Term] id: MONDO:0014935 @@ -345255,7 +343130,6 @@ is_a: MONDO:0015942 {source="DC-OMIM:617137", source="DOID:0111787", source="MON is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder intersection_of: MONDO:0015942 ! frontometaphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6859 ! MAP3K7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6859 {source="MONDO:mim2gene_medgen"} ! MAP3K7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -345286,7 +343160,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0015159 {source="Orphanet:500150"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014936 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500150", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11183 {source="MONDO:mim2gene_medgen"} ! SON +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11183 {source="OMIM:617140"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -345307,7 +343181,7 @@ xref: SCTID:253232000 {source="MONDO:equivalentTo"} xref: UMLS:C0344543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138010"} is_a: MONDO:0007119 {source="OMIM:617141", source="Orphanet:250923/btnt"} ! isolated aniridia is_a: MONDO:0100534 {source="https://clinicalgenome.org/affiliation/40077/", source="https://orcid.org/0000-0001-5935-2391"} ! SMARCB1-deficient kidney medullary carcinoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1171 {source="MONDO:mim2gene_medgen", source="OMIM:617141"} ! ELP4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1171 {source="OMIM:617141"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7066" xsd:anyURI [Term] @@ -345331,8 +343205,8 @@ xref: UMLS:C4310695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0007119 {source="MONDO:Redundant", source="OMIM:617142", source="Orphanet:250923/btnt"} ! isolated aniridia is_a: MONDO:0100534 {source="https://clinicalgenome.org/affiliation/40077/", source="https://orcid.org/0000-0001-5935-2391"} ! SMARCB1-deficient kidney medullary carcinoma intersection_of: MONDO:0007119 ! isolated aniridia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19016 ! TRIM44 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19016 {source="OMIM:617142"} ! TRIM44 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19016 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19016 {source="OMIM:617142"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7066" xsd:anyURI [Term] @@ -345356,7 +343230,6 @@ xref: UMLS:C4310694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018940 {source="DOID:0110661", source="MONDO:Redundant", source="OMIM:617143"} ! congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14025 ! SLC5A7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14025 {source="MONDO:mim2gene_medgen"} ! SLC5A7 [Term] id: MONDO:0014940 @@ -345370,7 +343243,6 @@ xref: MEDGEN:934660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617145 {source="MONDO:equivalentTo"} xref: UMLS:C4310693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934660"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="MONDO:mim2gene_medgen"} ! SQSTM1 [Term] id: MONDO:0014941 @@ -345386,7 +343258,6 @@ xref: OMIM:617146 {source="MONDO:equivalentTo"} xref: UMLS:C4310692 {source="MEDGEN:934659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019942 ! distal arthrogryposis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26270 {source="MONDO:mim2gene_medgen"} ! PIEZO2 [Term] id: MONDO:0014942 @@ -345411,8 +343282,8 @@ xref: UMLS:C4310691 {source="MEDGEN:934658", source="MONDO:equivalentTo", source is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:617153", source="MONDO:Redundant", source="OMIM:617153"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4081 ! GABRB1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4081 {source="MONDO:mim2gene_medgen"} ! GABRB1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4081 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4081 {source="OMIM:617153"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -345433,8 +343304,8 @@ xref: UMLS:C4310690 {source="MEDGEN:934657", source="MONDO:equivalentTo", source is_a: MONDO:0004069 {source="DOID:0080337"} ! inborn mitochondrial metabolism disorder is_a: MONDO:0018158 {source="DC-OMIM:617156", source="DOID:0080337", source="MONDO:Redundant", source="OMIM:617156"} ! mitochondrial DNA depletion syndrome intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11741 ! TFAM -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11741 {source="MONDO:mim2gene_medgen"} ! TFAM +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11741 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11741 {source="OMIM:617156"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI [Term] @@ -345458,7 +343329,7 @@ is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464288"} ! syndr is_a: MONDO:0015159 {source="Orphanet:464288"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019695 {source="Orphanet:464288"} ! acromelic dysplasia relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:464288", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25557 {source="MONDO:mim2gene_medgen"} ! PRMT7 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25557 {source="OMIM:617157"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -345477,7 +343348,6 @@ xref: OMIM:617158 {source="MONDO:equivalentTo"} xref: UMLS:C5399975 {source="MEDGEN:1728314", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018949 {source="DOID:0081363"} ! distal myopathy is_a: MONDO:0800464 {source="PMID:33145792", source="https://clinicalgenome.org/affiliation/40060/"} ! SQSTM1-related multisystem proteinopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="MONDO:mim2gene_medgen"} ! SQSTM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI [Term] @@ -345499,7 +343369,7 @@ xref: OMIM:617159 {source="MONDO:equivalentTo"} xref: Orphanet:653712 {source="MONDO:equivalentTo"} xref: UMLS:C4310688 {source="MEDGEN:934655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1919 {source="MONDO:mim2gene_medgen"} ! CHD4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1919 {source="OMIM:617159"} [Term] id: MONDO:0014947 @@ -345524,8 +343394,8 @@ xref: UMLS:C4310687 {source="MEDGEN:934654", source="MONDO:equivalentTo", source is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:617162", source="MONDO:Redundant", source="OMIM:617162"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4588 ! GRIN2D -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4588 {source="MONDO:mim2gene_medgen"} ! GRIN2D +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4588 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4588 {source="OMIM:617162"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -345543,7 +343413,7 @@ xref: OMIM:617164 {source="MONDO:equivalentTo"} xref: Orphanet:659702 {source="MONDO:equivalentTo"} xref: UMLS:C4310686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934653"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/649 {source="MONDO:mim2gene_medgen"} ! ARCN1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/649 {source="OMIM:617164"} [Term] id: MONDO:0014949 @@ -345568,8 +343438,8 @@ xref: UMLS:C4310685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy is_a: MONDO:0100062 {source="DC-OMIM:617166", source="MONDO:Redundant", source="OMIM:617166"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3668 ! FGF12 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3668 {source="MONDO:mim2gene_medgen"} ! FGF12 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3668 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3668 {source="OMIM:617166"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -345590,8 +343460,8 @@ xref: OMIM:617168 {source="MONDO:equivalentTo"} xref: UMLS:C4284414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:924785"} is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:617168", source="Orphanet:91387/btnt"} ! familial thoracic aortic aneurysm and aortic dissection intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6664 ! LOX -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6664 {source="MONDO:mim2gene_medgen"} ! LOX +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6664 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6664 {source="OMIM:617168"} [Term] id: MONDO:0014951 @@ -345615,7 +343485,6 @@ xref: UMLS:C4310684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019502 {source="DOID:0081218", source="OMIM:617169"} ! autosomal recessive non-syndromic intellectual disability relationship: excluded_subClassOf MONDO:0019349 {source="OMIM:617169", source="https://orcid.org/0000-0001-5208-3432"} ! Sotos syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617169"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24036 {source="MONDO:mim2gene_medgen"} ! APC2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -345637,7 +343506,6 @@ xref: Orphanet:468620 {source="MONDO:equivalentTo"} xref: UMLS:C4310683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934650"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:468620", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14677 {source="MONDO:mim2gene_medgen"} ! DEAF1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -345662,7 +343530,6 @@ xref: UMLS:C5568877 {source="MEDGEN:1800300", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0006025 {source="DOID:0081008"} ! autosomal recessive disease relationship: has_characteristic HP:0000007 {source="Orphanet:542306"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4401 {source="MONDO:mim2gene_medgen", source="Orphanet:542306"} ! GNB5 [Term] id: MONDO:0014954 @@ -345680,7 +343547,6 @@ xref: UMLS:C4310681 {source="MEDGEN:934648", source="MONDO:equivalentTo", source is_a: MONDO:0007527 {source="Orphanet:75392/btnt"} ! Ehlers-Danlos syndrome, periodontitis type intersection_of: MONDO:0007527 ! Ehlers-Danlos syndrome, periodontitis type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1247 ! C1S -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1247 {source="MONDO:mim2gene_medgen"} ! C1S [Term] id: MONDO:0014955 @@ -345700,7 +343566,7 @@ xref: UMLS:C4310680 {source="MEDGEN:934647", source="MONDO:equivalentTo", source is_a: MONDO:0009979 ! reticular dystrophy of the retinal pigment epithelium relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014955 {source="MONDO:CLINGEN"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18243 {source="MONDO:mim2gene_medgen"} ! RCBTB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18243 {source="OMIM:617175"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5116" xsd:anyURI [Term] @@ -345714,7 +343580,6 @@ xref: MEDGEN:934646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617180 {source="MONDO:equivalentTo"} xref: UMLS:C4310679 {source="MEDGEN:934646", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3444 {source="MONDO:mim2gene_medgen"} ! ERF [Term] id: MONDO:0014957 @@ -345728,7 +343593,6 @@ xref: MEDGEN:934645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617182 {source="MONDO:equivalentTo"} xref: UMLS:C4310678 {source="MEDGEN:934645", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4401 {source="MONDO:mim2gene_medgen"} ! GNB5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -345757,7 +343621,6 @@ relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", sourc relationship: excluded_subClassOf MONDO:0016803 {source="Orphanet:496790", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete unspecified inborn mitochondrial disorder relationship: excluded_subClassOf MONDO:0018609 {source="Orphanet:496790", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic hereditary optic neuropathy relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25567 {source="MONDO:mim2gene_medgen"} ! ATAD3A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4927" xsd:anyURI [Term] @@ -345775,7 +343638,6 @@ xref: MEDGEN:934643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617184 {source="MONDO:equivalentTo"} xref: UMLS:C4310676 {source="MEDGEN:934643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018158 {source="DC-OMIM:617184", source="DOID:0080130", source="OMIM:617184"} ! mitochondrial DNA depletion syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10990 {source="MONDO:mim2gene_medgen"} ! SLC25A4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -345814,9 +343676,9 @@ xref: UMLS:C4310674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004983 {source="DC-OMIM:617187", source="MONDO:Redundant", source="OMIM:617187"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16252 ! SUN5 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16252 ! SUN5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16252 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16252 {source="MONDO:mim2gene_medgen"} ! SUN5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16252 {source="MONDO:mim2gene_medgen"} ! SUN5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16252 {source="OMIM:617187"} [Term] id: MONDO:0014962 @@ -345841,8 +343703,8 @@ xref: OMIM:617188 {source="MONDO:equivalentTo"} xref: UMLS:C4310673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934640"} is_a: MONDO:0019502 {source="DC-OMIM:617188", source="DOID:0081219", source="MONDO:Redundant", source="OMIM:617188"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15505 ! MBOAT7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15505 {source="MONDO:mim2gene_medgen"} ! MBOAT7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15505 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15505 {source="OMIM:617188"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -345856,7 +343718,7 @@ xref: MEDGEN:934639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617190 {source="MONDO:equivalentTo"} xref: UMLS:C4310672 {source="MEDGEN:934639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23805 {source="MONDO:mim2gene_medgen"} ! ASXL2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23805 {source="OMIM:617190"} [Term] id: MONDO:0014964 @@ -345885,9 +343747,9 @@ xref: OMIM:617194 {source="MONDO:equivalentTo"} xref: UMLS:C4310670 {source="MEDGEN:934637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017436 {source="DC-OMIM:617194", source="MONDO:Redundant", source="OMIM:617194"} ! lethal congenital contracture syndrome intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29514 ! GLDN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29514 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29514 {source="MONDO:mim2gene_medgen"} ! GLDN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29514 {source="OMIM:617194"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -345910,9 +343772,9 @@ xref: OMIM:617201 {source="MONDO:equivalentTo"} xref: UMLS:C4310669 {source="MEDGEN:934636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020341 {source="DC-OMIM:617201", source="MONDO:Redundant", source="OMIM:617201"} ! periventricular nodular heterotopia intersection_of: MONDO:0020341 ! periventricular nodular heterotopia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7728 ! NEDD4L +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7728 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014966 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7728 {source="MONDO:mim2gene_medgen"} ! NEDD4L +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7728 {source="OMIM:617201"} [Term] id: MONDO:0014967 @@ -345932,8 +343794,8 @@ xref: UMLS:C4310668 {source="MEDGEN:934635", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018677 {source="DC-OMIM:617205", source="MONDO:Redundant", source="OMIM:617205"} ! visceral heterotaxy intersection_of: MONDO:0018677 ! visceral heterotaxy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18053 ! PKD1L1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18053 {source="MONDO:mim2gene_medgen"} ! PKD1L1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18053 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18053 {source="OMIM:617205"} [Term] id: MONDO:0014968 @@ -345947,7 +343809,6 @@ xref: OMIM:617207 {source="MONDO:equivalentTo"} xref: UMLS:C4310667 {source="MEDGEN:934634", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11582 {source="MONDO:mim2gene_medgen"} ! TBCE property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI [Term] @@ -345969,7 +343830,7 @@ xref: Orphanet:440713 {source="MONDO:equivalentTo"} xref: SCTID:124309005 {source="MONDO:equivalentTo"} xref: UMLS:C1291373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:713680"} is_a: MONDO:0019231 {source="Orphanet:440713", source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1492 {source="MONDO:mim2gene_medgen"} ! SHPK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1492 {source="OMIM:617213"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -345991,9 +343852,9 @@ xref: UMLS:C4310666 {source="MEDGEN:934633", source="MONDO:equivalentTo", source is_a: MONDO:0004983 {source="DC-OMIM:617214", source="DOID:0070174", source="MONDO:Redundant", source="OMIM:617214"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19218 ! PLCZ1 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19218 ! PLCZ1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19218 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19218 {source="MONDO:mim2gene_medgen"} ! PLCZ1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19218 {source="MONDO:mim2gene_medgen"} ! PLCZ1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19218 {source="OMIM:617214"} [Term] id: MONDO:0014971 @@ -346011,7 +343872,7 @@ xref: UMLS:C4310665 {source="MEDGEN:934632", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="MONDO:Redundant", source="OMIM:617217"} ! amelogenesis imperfecta -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4519 {source="MONDO:mim2gene_medgen"} ! GPR68 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4519 {source="OMIM:617217"} [Term] id: MONDO:0014972 @@ -346041,7 +343902,6 @@ xref: MEDGEN:934631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617222 {source="MONDO:equivalentTo"} xref: UMLS:C4310664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934631"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28883 {source="MONDO:mim2gene_medgen"} ! PPA2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6139" xsd:anyURI [Term] @@ -346054,7 +343914,6 @@ xref: MEDGEN:934630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617223 {source="MONDO:equivalentTo"} xref: UMLS:C4310663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934630"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28883 {source="MONDO:mim2gene_medgen"} ! PPA2 [Term] id: MONDO:0014975 @@ -346083,7 +343942,6 @@ is_a: MONDO:0019064 {source="DC-OMIM:617225", source="MONDO:Redundant", source=" intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30213 ! ATP13A2 relationship: has_characteristic HP:0000007 {source="Orphanet:513436"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30213 {source="MONDO:mim2gene_medgen", source="Orphanet:513436"} ! ATP13A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI [Term] @@ -346110,8 +343968,8 @@ is_a: MONDO:0000732 {source="DC-OMIM:617228", source="DOID:0111488", source="MON is_a: MONDO:0005267 {source="MONDO:Redundant", source="Orphanet:478049"} ! heart disorder is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7104 {source="MONDO:mim2gene_medgen"} ! MIPEP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7104 {source="MONDO:mim2gene_medgen"} ! MIPEP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7104 {source="MONDO:mim2gene_medgen"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7104 {source="OMIM:617228"} [Term] id: MONDO:0014977 @@ -346142,7 +344000,6 @@ is_a: MONDO:0016971 {source="DC-OMIM:617232", source="MONDO:Redundant", source=" is_a: MONDO:0017741 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of protein O-glycosylation intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22954 ! POGLUT1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22954 {source="MONDO:mim2gene_medgen"} ! POGLUT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4822" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6758" xsd:anyURI @@ -346158,6 +344015,7 @@ synonym: "preimplantation embryonic lethality caused by mutation in PADI6" EXACT synonym: "preimplantation embryonic lethality type 2" EXACT [MONDORULE:1, OMIM:617234] synonym: "PREMBL2" EXACT ABBREVIATION [OMIM:617234] xref: OMIM:617234 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20449 {source="OMIM:617234"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5091" xsd:anyURI is_obsolete: true @@ -346173,7 +344031,6 @@ xref: MEDGEN:934625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617235 {source="MONDO:equivalentTo"} xref: UMLS:C4310658 {source="MEDGEN:934625", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6323 {source="MONDO:mim2gene_medgen"} ! KIF5A [Term] id: MONDO:0014980 @@ -346211,7 +344068,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0031520 {source="OMIM:617237"} ! familial severe combined immunodeficiency intersection_of: MONDO:0003778 ! inborn error of immunity intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13222 ! BCL11B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13222 {source="MONDO:mim2gene_medgen"} ! BCL11B [Term] id: MONDO:0014982 @@ -346228,8 +344084,8 @@ xref: UMLS:C4310655 {source="MEDGEN:934622", source="MONDO:equivalentTo", source is_a: MONDO:0001384 {source="DC-OMIM:617238", source="MONDO:Redundant", source="OMIM:617238"} ! myopia is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0001384 ! myopia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8547 ! P4HA2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8547 {source="MONDO:mim2gene_medgen"} ! P4HA2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8547 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8547 {source="OMIM:617238"} [Term] id: MONDO:0014983 @@ -346251,8 +344107,8 @@ xref: OMIM:617239 {source="MONDO:equivalentTo", source="DOID:0110672"} xref: UMLS:C4310654 {source="MEDGEN:934621", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018940 {source="DOID:0110672", source="MONDO:Redundant", source="OMIM:617239"} ! congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10936 ! SLC18A3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10936 {source="MONDO:mim2gene_medgen"} ! SLC18A3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10936 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10936 {source="OMIM:617239"} [Term] id: MONDO:0014984 @@ -346263,7 +344119,7 @@ xref: MEDGEN:934620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617241 {source="MONDO:equivalentTo"} xref: UMLS:C4310653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934620"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7677 {source="MONDO:mim2gene_medgen"} ! NSMCE3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7677 {source="OMIM:617241"} [Term] id: MONDO:0014985 @@ -346290,8 +344146,8 @@ xref: OMIM:617243 {source="DOID:0111080", source="MONDO:equivalentTo"} xref: UMLS:C4310652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934619"} is_a: MONDO:0019391 {source="DC-OMIM:617243", source="DOID:0111080", source="MONDO:Redundant", source="OMIM:617243"} ! Fanconi anemia intersection_of: MONDO:0019391 ! Fanconi anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6764 ! MAD2L2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6764 {source="MONDO:mim2gene_medgen"} ! MAD2L2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6764 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6764 {source="OMIM:617243"} [Term] id: MONDO:0014986 @@ -346318,7 +344174,6 @@ xref: UMLS:C4284093 {source="MEDGEN:924579", source="MONDO:equivalentTo", source is_a: MONDO:0019391 {source="DC-OMIM:617244", source="DOID:0111090", source="MONDO:Redundant", source="OMIM:617244"} ! Fanconi anemia intersection_of: MONDO:0019391 ! Fanconi anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9817 ! RAD51 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9817 {source="MONDO:mim2gene_medgen"} ! RAD51 [Term] id: MONDO:0014987 @@ -346345,7 +344200,6 @@ xref: UMLS:C4310651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0019391 {source="DC-OMIM:617247", source="DOID:0111085", source="MONDO:Redundant", source="OMIM:617247"} ! Fanconi anemia intersection_of: MONDO:0019391 ! Fanconi anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12829 ! XRCC2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12829 {source="MONDO:mim2gene_medgen"} ! XRCC2 [Term] id: MONDO:0014988 @@ -346374,8 +344228,8 @@ xref: OMIM:617251 {source="MONDO:equivalentTo"} xref: UMLS:C4310649 {source="MONDO:equivalentTo", source="MEDGEN:934616", source="MONDO:MEDGEN"} is_a: MONDO:0008621 {source="MONDO:Redundant"} ! uncombable hair syndrome intersection_of: MONDO:0008621 ! uncombable hair syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11779 ! TGM3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11779 {source="MONDO:mim2gene_medgen"} ! TGM3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11779 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11779 {source="OMIM:617251"} [Term] id: MONDO:0014990 @@ -346396,8 +344250,8 @@ xref: OMIM:617252 {source="MONDO:equivalentTo"} xref: UMLS:C4310648 {source="MEDGEN:934615", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008621 {source="MONDO:Redundant"} ! uncombable hair syndrome intersection_of: MONDO:0008621 ! uncombable hair syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11791 ! TCHH -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11791 {source="MONDO:mim2gene_medgen"} ! TCHH +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11791 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11791 {source="OMIM:617252"} [Term] id: MONDO:0014991 @@ -346421,9 +344275,9 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0019342 {source="DC-OMIM:617253", source="DOID:0070008", source="MONDO:Redundant", source="OMIM:617253"} ! Seckel syndrome is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder intersection_of: MONDO:0019342 ! Seckel syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26513 ! NSMCE2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26513 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617253"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26513 {source="MONDO:mim2gene_medgen"} ! NSMCE2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26513 {source="OMIM:617253"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI @@ -346447,8 +344301,8 @@ xref: OMIM:617255 {source="MONDO:equivalentTo"} xref: UMLS:C4310646 {source="MEDGEN:934613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018838 {source="DC-OMIM:617255", source="DOID:0112233", source="MONDO:Redundant", source="OMIM:617255"} ! lissencephaly spectrum disorders intersection_of: MONDO:0018838 ! lissencephaly spectrum disorders -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26899 ! TMTC3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26899 {source="MONDO:mim2gene_medgen"} ! TMTC3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26899 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26899 {source="OMIM:617255"} [Term] id: MONDO:0014993 @@ -346470,9 +344324,9 @@ xref: OMIM:617258 {source="MONDO:equivalentTo", source="DOID:0080308"} xref: UMLS:C4310645 {source="MEDGEN:934612", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018943 {source="DOID:0080308", source="MONDO:Redundant", source="OMIM:617258"} ! myofibrillar myopathy intersection_of: MONDO:0018943 ! myofibrillar myopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26162 ! PYROXD1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26162 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014993 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26162 {source="MONDO:mim2gene_medgen"} ! PYROXD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26162 {source="OMIM:617258"} [Term] id: MONDO:0014994 @@ -346485,7 +344339,7 @@ xref: MEDGEN:934611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617260 {source="MONDO:equivalentTo"} xref: UMLS:C4310644 {source="MEDGEN:934611", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12933 {source="MONDO:mim2gene_medgen"} ! ZNF148 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12933 {source="OMIM:617260"} [Term] id: MONDO:0014995 @@ -346499,7 +344353,7 @@ xref: OMIM:617268 {source="MONDO:equivalentTo"} xref: UMLS:C4310643 {source="MEDGEN:934610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29853 {source="MONDO:mim2gene_medgen"} ! HECW2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29853 {source="OMIM:617268"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -346527,8 +344381,8 @@ xref: OMIM:617270 {source="MONDO:equivalentTo"} xref: UMLS:C4310641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934608"} is_a: MONDO:0019502 {source="DC-OMIM:617270", source="DOID:0081220", source="MONDO:Redundant", source="OMIM:617270"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18248 ! ELP2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18248 {source="MONDO:mim2gene_medgen"} ! ELP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18248 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18248 {source="OMIM:617270"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -346551,10 +344405,10 @@ xref: OMIM:617271 {source="DOID:0111127", source="MONDO:equivalentTo"} xref: UMLS:C4310640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934607"} is_a: MONDO:0019005 {source="DC-OMIM:617271", source="DOID:0111127", source="MONDO:Redundant", source="OMIM:617271"} ! nephronophthisis intersection_of: MONDO:0019005 ! nephronophthisis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29536 ! MAPKBP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29536 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014997 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617271"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29536 {source="MONDO:mim2gene_medgen"} ! MAPKBP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29536 {source="OMIM:617271"} [Term] id: MONDO:0014998 @@ -346572,7 +344426,6 @@ xref: UMLS:C4310639 {source="MEDGEN:934606", source="MONDO:equivalentTo", source is_a: MONDO:0020366 ! congenital glaucoma is_a: MONDO:0800182 {source="https://clinicalgenome.org/affiliation/40077/", source="https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! TEK-related primary glaucoma relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11724 {source="MONDO:mim2gene_medgen"} ! TEK [Term] id: MONDO:0014999 @@ -346592,8 +344445,8 @@ xref: UMLS:C4310638 {source="MONDO:equivalentTo", source="MEDGEN:934605", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005486 {source="DC-OMIM:617275", source="MONDO:Redundant", source="OMIM:617275"} ! tooth agenesis intersection_of: MONDO:0005486 ! tooth agenesis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17655 ! GREM2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17655 {source="MONDO:mim2gene_medgen"} ! GREM2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17655 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17655 {source="OMIM:617275"} [Term] id: MONDO:0015000 @@ -346617,8 +344470,8 @@ xref: OMIM:617276 {source="MONDO:equivalentTo"} xref: UMLS:C4310637 {source="MEDGEN:934604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100062 {source="DC-OMIM:617276", source="DOID:0080448", source="MONDO:Redundant", source="OMIM:617276"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/567 ! AP3B2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/567 {source="MONDO:mim2gene_medgen"} ! AP3B2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/567 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/567 {source="OMIM:617276"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -346639,8 +344492,8 @@ xref: OMIM:617280 {source="MONDO:equivalentTo"} xref: UMLS:C4310636 {source="MEDGEN:934603", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018054 {source="DC-OMIM:617280", source="MONDO:Redundant", source="OMIM:617280"} ! familial atrial fibrillation intersection_of: MONDO:0018054 ! familial atrial fibrillation -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7585 ! MYL4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7585 {source="MONDO:mim2gene_medgen"} ! MYL4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7585 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7585 {source="OMIM:617280"} [Term] id: MONDO:0015002 @@ -346663,8 +344516,8 @@ xref: OMIM:617281 {source="MONDO:equivalentTo"} xref: UMLS:C4310635 {source="MEDGEN:934602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100062 {source="DC-OMIM:617281", source="DOID:0080441", source="MONDO:Redundant", source="OMIM:617281"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19344 ! DENND5A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19344 {source="MONDO:mim2gene_medgen"} ! DENND5A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19344 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19344 {source="OMIM:617281"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -346691,7 +344544,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0018424 {source="Orphanet:508093"} ! inherited lipoic acid biosynthesis defect is_a: MONDO:0024237 {source="Orphanet:508093"} ! inherited neurodegenerative disorder is_a: MONDO:0044807 {source="OMIM:617282"} ! inherited dystonia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19691 {source="MONDO:mim2gene_medgen", source="Orphanet:508093"} ! MECR [Term] id: MONDO:0015004 @@ -346719,7 +344571,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0044807 {source="DC-OMIM:617284", source="OMIM:617284"} ! inherited dystonia intersection_of: MONDO:0044807 ! inherited dystonia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15840 ! KMT2B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15840 {source="MONDO:mim2gene_medgen"} ! KMT2B [Term] id: MONDO:0015005 @@ -346735,7 +344586,7 @@ xref: OMIM:617290 {source="MONDO:equivalentTo"} xref: UMLS:C4310632 {source="MEDGEN:934599", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009945 {source="DOID:0080769"} ! pyridoxine-dependent epilepsy is_a: MONDO:0957599 {source="OMIM:617290"} ! epilepsy, early-onset -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9457 {source="MONDO:mim2gene_medgen"} ! PLPBP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9457 {source="OMIM:617290"} [Term] id: MONDO:0015006 @@ -346762,7 +344613,6 @@ is_a: MONDO:0017610 {source="OMIM:617294", source="https://orcid.org/0000-0001-5 intersection_of: MONDO:0017610 ! epidermolysis bullosa simplex intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25947 ! KLHL24 relationship: has_characteristic HP:0000006 {source="Orphanet:508529"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25947 {source="MONDO:mim2gene_medgen", source="Orphanet:508529"} ! KLHL24 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -346786,7 +344636,6 @@ xref: UMLS:C4284592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015087 {source="Orphanet:521390"} ! autosomal dominant complex spastic paraplegia relationship: has_characteristic HP:0000006 {source="Orphanet:521390"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29508 {source="MONDO:mim2gene_medgen", source="Orphanet:521390"} ! KIDINS220 [Term] id: MONDO:0015008 @@ -346805,7 +344654,7 @@ xref: OMIM:617297 {source="MONDO:equivalentTo"} xref: UMLS:C4310630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934597"} is_a: MONDO:0015047 ! amelogenesis imperfecta type 1 is_a: MONDO:0019507 {source="MONDO:Redundant", source="OMIM:617297"} ! amelogenesis imperfecta -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14376 {source="MONDO:mim2gene_medgen"} ! ACP4 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14376 {source="OMIM:617297"} [Term] id: MONDO:0015009 @@ -346824,7 +344673,6 @@ xref: UMLS:C4310629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019313 {source="OMIM:617300"} ! lymphatic malformation is_a: MONDO:0700080 {source="https://www.clinicalgenome.org/affiliation/40106/"} ! EPHB4-associated vascular malformation spectrum -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3395 {source="MONDO:mim2gene_medgen"} ! EPHB4 [Term] id: MONDO:0015010 @@ -346847,7 +344695,7 @@ xref: OMIM:617301 {source="Orphanet:289863", source="MONDO:equivalentTo"} xref: Orphanet:289863 {source="MONDO:equivalentTo"} xref: UMLS:C4310943 {source="MEDGEN:934910", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011612 {source="Orphanet:289863"} ! glycine encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11056 {source="MONDO:mim2gene_medgen"} ! SLC6A9 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11056 {source="OMIM:617301"} [Term] id: MONDO:0015011 @@ -346867,7 +344715,7 @@ xref: MEDGEN:934595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617302 {source="MONDO:equivalentTo"} xref: UMLS:C4310628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934595"} is_a: MONDO:0043878 {source="MONDO:Redundant", source="OMIM:617302"} ! hereditary optic atrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12843 {source="MONDO:mim2gene_medgen"} ! YME1L1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12843 {source="OMIM:617302"} [Term] id: MONDO:0015012 @@ -346895,7 +344743,7 @@ is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with sk relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:505248", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0019249 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! mucopolysaccharidosis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18179 {source="MONDO:mim2gene_medgen"} ! VPS33A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18179 {source="OMIM:617303"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -346921,8 +344769,8 @@ xref: OMIM:617304 {source="DOID:0080350", source="MONDO:equivalentTo"} xref: UMLS:C4310626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934593"} is_a: MONDO:0019200 {source="DC-OMIM:617304", source="DOID:0080350", source="MONDO:Redundant", source="OMIM:617304"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30078 ! REEP6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30078 {source="MONDO:mim2gene_medgen"} ! REEP6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30078 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30078 {source="OMIM:617304"} [Term] id: MONDO:0015014 @@ -346943,7 +344791,6 @@ xref: OMIM:617306 {source="MONDO:equivalentTo"} xref: Orphanet:603494 {source="MONDO:equivalentTo"} xref: UMLS:C4310625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934592"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 {source="MONDO:mim2gene_medgen"} ! MITF property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -346965,10 +344812,10 @@ xref: OMIM:617308 {source="MONDO:equivalentTo", source="DOID:0111067"} xref: UMLS:C4310624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934591"} is_a: MONDO:0018841 {source="DC-OMIM:617308", source="DOID:0111067", source="MONDO:Redundant", source="OMIM:617308"} ! congenital bile acid synthesis defect intersection_of: MONDO:0018841 ! congenital bile acid synthesis defect -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/120 ! ACOX2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/120 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0015015 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/120 {source="MONDO:mim2gene_medgen"} ! ACOX2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/120 {source="OMIM:617308"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -346987,7 +344834,6 @@ xref: OMIM:617315 {source="MONDO:equivalentTo"} xref: UMLS:C4310623 {source="MEDGEN:934590", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019503 {source="DC-OMIM:617315", source="DOID:0080611", source="OMIM:617315"} ! anterior segment dysgenesis is_a: MONDO:0800472 {source="PMID:23767995", source="PMID:24099281", source="PMID:9097971", source="https://clinicalgenome.org/affiliation/40077/"} ! CYP1B1-related glaucoma with or without anterior segment dysgenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2597 {source="MONDO:mim2gene_medgen"} ! CYP1B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6783" xsd:anyURI @@ -347015,9 +344861,9 @@ xref: Orphanet:519388 {source="MONDO:equivalentTo"} xref: UMLS:C4310622 {source="MEDGEN:934589", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019503 {source="DC-OMIM:617319", source="DOID:0080613", source="MONDO:Redundant", source="OMIM:617319"} ! anterior segment dysgenesis intersection_of: MONDO:0019503 ! anterior segment dysgenesis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23228 ! CPAMD8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23228 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0015017 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23228 {source="MONDO:mim2gene_medgen"} ! CPAMD8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23228 {source="OMIM:617319"} [Term] id: MONDO:0015018 @@ -347035,9 +344881,9 @@ xref: OMIM:617320 {source="MONDO:equivalentTo"} xref: UMLS:C4310621 {source="MEDGEN:934588", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017265 {source="DC-OMIM:617320", source="MONDO:Redundant", source="OMIM:617320"} ! autosomal recessive congenital ichthyosis intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1502 ! CASP14 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1502 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1502 {source="MONDO:mim2gene_medgen"} ! CASP14 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1502 {source="OMIM:617320"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -347054,7 +344900,6 @@ xref: OMIM:617321 {source="MONDO:equivalentTo"} xref: SCTID:768667002 {source="MONDO:equivalentTo"} xref: UMLS:C4310620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934587"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5331 {source="MONDO:mim2gene_medgen"} ! NOD2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI [Term] @@ -347077,8 +344922,8 @@ xref: OMIM:617323 {source="MONDO:equivalentTo"} xref: UMLS:C4310619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934586"} is_a: MONDO:0019502 {source="DC-OMIM:617323", source="DOID:0081221", source="MONDO:Redundant", source="OMIM:617323"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6050 ! IMPA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6050 {source="MONDO:mim2gene_medgen"} ! IMPA1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6050 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6050 {source="OMIM:617323"} [Term] id: MONDO:0015021 @@ -347099,7 +344944,7 @@ xref: UMLS:C4310618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015159 {source="Orphanet:658843"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0015021 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19087 {source="MONDO:mim2gene_medgen"} ! EBF3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19087 {source="OMIM:617330"} [Term] id: MONDO:0015022 @@ -347112,7 +344957,7 @@ xref: OMIM:617333 {source="MONDO:equivalentTo"} xref: UMLS:C4310617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934584"} is_a: MONDO:0000508 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! syndromic intellectual disability is_a: MONDO:0003847 {source="EFO:0009070", source="OMIM:617333"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14255 {source="MONDO:mim2gene_medgen"} ! BRPF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14255 {source="OMIM:617333"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6022" xsd:anyURI [Term] @@ -347139,7 +344984,6 @@ is_a: MONDO:0018958 {source="DC-OMIM:617336", source="DOID:0110933", source="MON intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23246 ! MYPN relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0015023 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23246 {source="MONDO:mim2gene_medgen"} ! MYPN [Term] id: MONDO:0015024 @@ -347160,8 +345004,8 @@ xref: OMIM:617337 {source="MONDO:equivalentTo"} xref: UMLS:C4310616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934583"} is_a: MONDO:0019287 {source="DC-OMIM:617337", source="MONDO:Redundant", source="OMIM:617337"} ! ectodermal dysplasia syndrome intersection_of: MONDO:0019287 ! ectodermal dysplasia syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26624 ! KDF1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26624 {source="MONDO:mim2gene_medgen"} ! KDF1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26624 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26624 {source="OMIM:617337"} [Term] id: MONDO:0015025 @@ -347184,8 +345028,8 @@ xref: OMIM:617339 {source="MONDO:equivalentTo"} xref: UMLS:C4479208 {source="MEDGEN:1372686", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100062 {source="DC-OMIM:617339", source="DOID:0080433", source="MONDO:Redundant", source="OMIM:617339"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6971 ! MDH2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6971 {source="MONDO:mim2gene_medgen"} ! MDH2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6971 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6971 {source="OMIM:617339"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -347206,8 +345050,8 @@ xref: OMIM:617341 {source="MONDO:equivalentTo"} xref: UMLS:C4479220 {source="MEDGEN:1390862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0012815 {source="MONDO:Redundant", source="OMIM:617341"} ! Coats plus syndrome intersection_of: MONDO:0012815 ! Coats plus syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26200 ! STN1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26200 {source="MONDO:mim2gene_medgen"} ! STN1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26200 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26200 {source="OMIM:617341"} [Term] id: MONDO:0015027 @@ -352316,6 +350160,7 @@ is_a: MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:1333"} ! pancrea is_a: MONDO:0005192 {source="MONDO:Redundant", source="NCIT:C43298", source="Orphanet:1333"} ! exocrine pancreatic carcinoma intersection_of: MONDO:0005192 ! exocrine pancreatic carcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/172 {source="OMIM:260350"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -365285,7 +363130,6 @@ is_a: MONDO:0002245 {source="DOID:0060651", source="MONDO:Redundant"} ! blood pl is_a: MONDO:0002254 {source="NCIT:C131639", source="NCIT:C131642", source="NCIT:C131646", source="NCIT:C131650"} ! syndromic disease is_a: MONDO:0018795 {source="Orphanet:182050"} ! syndromic constitutional thrombocytopenia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0015912 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7579 {source="MONDO:mim2gene_medgen"} ! MYH9 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia" xsd:anyURI {source="GARD:0000180"} [Term] @@ -366846,7 +364690,7 @@ is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0006025 {source="DOID:0080734", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0020066 {source="DC-OMIM:225400", source="DOID:0080734", source="MESH:C536198", source="NCIT:C125700", source="OMIM:225400", source="Orphanet:1900"} ! Ehlers-Danlos syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:225400", source="Orphanet:1900"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9081 {source="MONDO:mim2gene_medgen"} ! PLOD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9081 {source="OMIM:225400"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4220" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4918" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -369295,7 +367139,6 @@ xref: UMLS:C4751434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016146 {source="Orphanet:206599", source="https://www.ncbi.nlm.nih.gov/books/NBK1385/"} ! caveolinopathy is_a: MONDO:0016147 {source="Orphanet:206599"} ! qualitative or quantitative defects of dystrophin relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 {source="Orphanet:206599"} ! CAV3 [Term] id: MONDO:0016104 @@ -369906,7 +367749,6 @@ xref: MEDGEN:1842296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:207060 {source="MONDO:equivalentTo"} xref: UMLS:C5680808 {source="MEDGEN:1842296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016140 {source="Orphanet:207060"} ! sarcoglycanopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10805 {source="Orphanet:207060"} ! SGCA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI [Term] @@ -369926,7 +367768,6 @@ xref: MESH:C535435 {source="MONDO:equivalentTo"} xref: Orphanet:207063 {source="MONDO:equivalentTo"} xref: UMLS:C2930900 {source="MEDGEN:418943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016140 {source="Orphanet:207063"} ! sarcoglycanopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10806 {source="Orphanet:207063"} ! SGCB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI [Term] @@ -369943,7 +367784,6 @@ xref: MEDGEN:1842385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:207067 {source="MONDO:equivalentTo"} xref: UMLS:C5680805 {source="MEDGEN:1842385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016140 {source="Orphanet:207067"} ! sarcoglycanopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10809 {source="Orphanet:207067"} ! SGCG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI [Term] @@ -369961,7 +367801,6 @@ xref: MEDGEN:1826098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:207070 {source="MONDO:equivalentTo"} xref: UMLS:C5680806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826098"} is_a: MONDO:0016140 {source="Orphanet:207070"} ! sarcoglycanopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10807 {source="Orphanet:207070"} ! SGCD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI [Term] @@ -369980,7 +367819,6 @@ xref: MESH:C537995 {source="MONDO:equivalentTo"} xref: Orphanet:207073 {source="MONDO:equivalentTo"} xref: UMLS:C2931687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419874"} is_a: MONDO:0016139 {source="Orphanet:207073"} ! qualitative or quantitative protein defects in neuromuscular diseases -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3097 {source="Orphanet:207073"} ! DYSF property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI [Term] @@ -370002,7 +367840,6 @@ is_a: MONDO:0003939 {source="https://orcid.org/0000-0001-5208-3432"} ! muscle ti is_a: MONDO:0016139 {source="Orphanet:207078"} ! qualitative or quantitative protein defects in neuromuscular diseases relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0016146 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_dysfunction_of GO:0005901 ! caveola -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 {source="Orphanet:207078"} ! CAV3 [Term] id: MONDO:0016147 @@ -370066,7 +367903,6 @@ xref: MEDGEN:1842752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:207101 {source="MONDO:equivalentTo"} xref: UMLS:C5680831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842752"} is_a: MONDO:0016139 {source="Orphanet:207101"} ! qualitative or quantitative protein defects in neuromuscular diseases -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5273 {source="Orphanet:207101"} ! HSPG2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI [Term] @@ -370093,7 +367929,6 @@ xref: MEDGEN:1843261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:207107 {source="MONDO:equivalentTo"} xref: UMLS:C5680829 {source="MEDGEN:1843261", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016139 {source="Orphanet:207107"} ! qualitative or quantitative protein defects in neuromuscular diseases -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16380 ! TRIM32 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI [Term] @@ -370311,8 +368146,8 @@ xref: SCTID:715726000 {source="MONDO:equivalentTo"} xref: UMLS:C0752125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:156006"} is_a: MONDO:0020380 {source="DOID:0050958", source="OMIM:164500", source="Orphanet:208508"} ! autosomal dominant cerebellar ataxia intersection_of: MONDO:0020380 ! autosomal dominant cerebellar ataxia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10560 ! ATXN7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10560 {source="MONDO:mim2gene_medgen"} ! ATXN7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10560 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10560 {source="OMIM:164500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5763" xsd:anyURI [Term] @@ -370779,7 +368614,6 @@ xref: MEDGEN:1842233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:209056 {source="MONDO:equivalentTo"} xref: UMLS:C5680842 {source="MONDO:equivalentTo", source="MEDGEN:1842233", source="MONDO:MEDGEN"} is_a: MONDO:0016139 {source="Orphanet:209056"} ! qualitative or quantitative protein defects in neuromuscular diseases -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11610 {source="Orphanet:209056"} ! TCAP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI [Term] @@ -370826,7 +368660,6 @@ xref: MEDGEN:1842636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:209185 {source="MONDO:equivalentTo"} xref: UMLS:C5680832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842636"} is_a: MONDO:0016139 {source="Orphanet:209185"} ! qualitative or quantitative protein defects in neuromuscular diseases -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="Orphanet:209185"} ! MYH7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI [Term] @@ -370867,7 +368700,6 @@ xref: MEDGEN:1842345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:209196 {source="MONDO:equivalentTo"} xref: UMLS:C5680835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842345"} is_a: MONDO:0016139 {source="Orphanet:209196"} ! qualitative or quantitative protein defects in neuromuscular diseases -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="Orphanet:209196"} ! PLEC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI [Term] @@ -374365,6 +372197,7 @@ xref: OMIM:618625 {source="MONDO:equivalentTo"} xref: Orphanet:221008 {source="OMIM:618625", source="MONDO:equivalentTo"} xref: UMLS:C5231433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684764"} is_a: MONDO:0010002 {source="OMIM:618625", source="Orphanet:221008"} ! Rothmund-Thomson syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19988 {source="OMIM:618625"} [Term] id: MONDO:0016369 @@ -374388,7 +372221,6 @@ xref: Orphanet:221016 {source="MONDO:equivalentTo"} xref: UMLS:C5203410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684753"} is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0010002 {source="OMIM:268400", source="Orphanet:221016"} ! Rothmund-Thomson syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9949 {source="MONDO:mim2gene_medgen"} ! RECQL4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -379509,7 +377341,6 @@ xref: Orphanet:247806 {source="MONDO:equivalentTo"} xref: UMLS:C5679615 {source="MONDO:equivalentTo", source="MEDGEN:1826008", source="MONDO:MEDGEN"} is_a: MONDO:0016362 {source="Orphanet:247806"} ! attenuated familial adenomatous polyposis relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/583 {source="https://orcid.org/0000-0001-5208-3432"} ! APC [Term] id: MONDO:0016614 @@ -379527,7 +377358,6 @@ xref: MEDGEN:1843173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:247815 {source="MONDO:equivalentTo"} xref: UMLS:C5679614 {source="MEDGEN:1843173", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020044 {source="Orphanet:247815"} ! autosomal recessive metabolic cerebellar ataxia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8851 {source="https://orcid.org/0000-0001-5208-3432"} ! PEX10 [Term] id: MONDO:0016615 @@ -384192,7 +382022,7 @@ xref: OMIM:251950 {source="Orphanet:2597", source="Orphanet:2597/ntbt", source=" xref: Orphanet:2597 {source="MONDO:equivalentTo", source="OMIM:251950"} xref: UMLS:C1855033 {source="MONDO:equivalentTo", source="MEDGEN:343245", source="MONDO:MEDGEN"} is_a: MONDO:0009637 {source="MESH:C537476", source="Orphanet:2597", source="https://orcid.org/0000-0002-6601-2165"} ! inborn mitochondrial myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28900 {source="MONDO:mim2gene_medgen"} ! PNPLA8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28900 {source="OMIM:251950"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3682/mitochondrial-myopathy-with-lactic-acidosis" xsd:anyURI {source="GARD:0003682"} [Term] @@ -385085,7 +382915,6 @@ xref: Orphanet:261619 {source="MONDO:equivalentTo"} xref: UMLS:C1956125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:365434"} is_a: MONDO:0007318 {source="OMIM:118450", source="Orphanet:261619"} ! Alagille syndrome relationship: has_characteristic SO:1000008 ! point_mutation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6188 {source="MONDO:mim2gene_medgen"} ! JAG1 [Term] id: MONDO:0016863 @@ -391151,7 +388980,6 @@ xref: SCTID:82562007 {source="MONDO:equivalentTo", source="DOID:84"} xref: UMLS:C0029421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10494"} is_a: MONDO:0005380 {source="DOID:84", source="MONDO:Redundant", source="Orphanet:251262", source="Orphanet:2764"} ! osteonecrosis is_a: MONDO:0018383 {source="MONDO:Redundant", source="Orphanet:251262"} ! osteonecrosis of genetic origin -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/319 {source="MONDO:mim2gene_medgen"} ! ACAN property_value: IAO:0000589 "osteochondritis dissecans (disease)" xsd:string [Term] @@ -395819,7 +393647,7 @@ xref: OMIM:615710 {source="MONDO:equivalentTo", source="Orphanet:293864/btnt", s xref: Orphanet:293864 {source="OMIM:615710", source="MONDO:equivalentTo"} xref: UMLS:C2748662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411637"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21478 {source="MONDO:mim2gene_medgen"} ! RFX6 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21478 {source="OMIM:615710"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -400172,7 +398000,6 @@ xref: Orphanet:306617 {source="MONDO:equivalentTo"} xref: UMLS:C5779711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843445"} is_a: MONDO:0017140 {source="Orphanet:306617", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome relationship: has_characteristic HP:0001419 {source="Orphanet:306617"} ! X-linked recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6470 {source="Orphanet:306617"} ! L1CAM [Term] id: MONDO:0017631 @@ -405490,7 +403317,6 @@ xref: UMLS:C4511091 {source="MEDGEN:1379275", source="MONDO:equivalentTo", sourc is_a: MONDO:0020573 {source="OMIM:209950", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0008856 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency 27A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5439 {source="Orphanet:319569"} ! IFNGR1 relationship: predisposes_towards MONDO:0020590 {source="OMIM:209950"} ! mycobacterial infectious disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -405513,7 +403339,6 @@ xref: Orphanet:319574 {source="MONDO:equivalentTo"} xref: UMLS:C4511098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1387677"} is_a: MONDO:0020573 {source="OMIM:614889", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0013953 {source="Orphanet:319547/ntbt", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency 28 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5440 {source="Orphanet:319574"} ! IFNGR2 relationship: predisposes_towards MONDO:0020590 {source="OMIM:614889"} ! mycobacterial infectious disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -405536,7 +403361,6 @@ xref: MEDGEN:1371829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:319589 {source="MONDO:equivalentTo"} xref: UMLS:C4510875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1371829"} is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5440 {source="Orphanet:319589"} ! IFNGR2 [Term] id: MONDO:0017904 @@ -407286,7 +405110,6 @@ xref: MEDGEN:1674241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:329249 {source="MONDO:equivalentTo"} xref: UMLS:C5190989 {source="MONDO:equivalentTo", source="MEDGEN:1674241", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30417 {source="Orphanet:329249"} ! SH2B1 [Term] id: MONDO:0017995 @@ -410404,6 +408227,7 @@ xref: UMLS:C4303546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0013150 {source="OMIM:618049"} ! parkinsonism-dystonia, infantile is_a: MONDO:0019219 {source="Orphanet:352649", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of neurotransmitter metabolism and transport relationship: excluded_subClassOf MONDO:0018329 {source="Orphanet:352649", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete persistent combined dystonia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10935 {source="OMIM:618049"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6933" xsd:anyURI [Term] @@ -410790,7 +408614,6 @@ is_a: MONDO:0017719 {source="DOID:3322", source="Orphanet:354"} ! gangliosidosis relationship: disease_has_basis_in_disruption_of GO:0004565 {source="PMID:21723623"} ! beta-galactosidase activity relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4298 {source="PMID:29884839"} ! GLB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI [Term] @@ -411115,7 +408938,6 @@ is_a: MONDO:0008380 {source="DOID:4648", source="MONDO:Redundant", source="NCIT: is_a: MONDO:0015356 {source="Orphanet:357027"} ! hereditary neoplastic syndrome intersection_of: MONDO:0008380 ! retinoblastoma intersection_of: has_characteristic MONDO:0021152 ! inherited -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9884 {source="MONDO:mim2gene_medgen", source="OMIM:180200"} ! RB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -411196,7 +409018,6 @@ relationship: excluded_subClassOf MONDO:0017752 {source="Orphanet:357058", sourc relationship: excluded_subClassOf MONDO:0018292 {source="Orphanet:357058", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete congenital disorder of glycosylation-related bone disorder relationship: excluded_subClassOf MONDO:0019058 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neurometabolic disease relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18481 {source="OMIM:219200", source="Orphanet:357058"} ! ATP6V0A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5048" xsd:anyURI @@ -412624,6 +410445,7 @@ xref: UMLS:C0038325 {source="MEDGEN:20955", source="MONDO:equivalentTo", source= is_a: MONDO:0002254 {source="NCIT:C79484"} ! syndromic disease is_a: MONDO:0019810 {source="Orphanet:36426"} ! toxic epidermal necrolysis relationship: excluded_subClassOf MONDO:0005594 {source="EFO:0004276", source="https://orcid.org/0000-0001-5208-3432"} ! severe cutaneous adverse reaction +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4931 {source="OMIM:608579"} [Term] id: MONDO:0018230 @@ -412874,7 +410696,6 @@ xref: MEDGEN:1680592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:369873 {source="MONDO:equivalentTo"} xref: UMLS:C5191050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1680592"} is_a: MONDO:0011122 {source="https://orcid.org/0000-0001-5208-3432"} ! obesity disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10882 {source="Orphanet:369873", source="https://orcid.org/0000-0001-5208-3432"} ! SIM1 [Term] id: MONDO:0018245 @@ -413483,7 +411304,7 @@ relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000- relationship: excluded_subClassOf MONDO:0019288 {source="Orphanet:370938", source="https://orcid.org/0000-0001-5208-3432"} ! skin pigmentation disorder relationship: has_characteristic HP:0000007 {source="Orphanet:370938"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10872 {source="MONDO:mim2gene_medgen"} ! ST3GAL5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10872 {source="OMIM:609056"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI [Term] @@ -417150,7 +414971,6 @@ is_a: MONDO:0100151 {source="NCIT:C129932", source="Orphanet:213/btnt"} ! nephro intersection_of: MONDO:0100151 ! nephropathic cystinosis intersection_of: has_characteristic HP:0003593 ! Infantile onset relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:411629", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2518 {source="MONDO:mim2gene_medgen"} ! CTNS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -418437,7 +416257,6 @@ xref: UMLS:C4706390 {source="MONDO:equivalentTo", source="MEDGEN:1642781", sourc is_a: MONDO:0019952 {source="Orphanet:424107"} ! congenital myopathy is_a: MONDO:0100150 {source="https://clinicalgenome.org/affiliation/40031/"} ! RYR1-related myopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0018528 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10483 {source="Orphanet:424107"} ! RYR1 [Term] id: MONDO:0018529 @@ -418834,7 +416653,6 @@ is_a: MONDO:0100372 {source="https://www.clinicalgenome.org/affiliation/40049/"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0018544 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0015129 {source="Orphanet:43", source="https://orcid.org/0000-0001-5208-3432"} ! chronic primary adrenal insufficiency relationship: excluded_subClassOf MONDO:0019233 {source="Orphanet:43", source="https://orcid.org/0000-0001-5208-3432", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/61 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! ABCD1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI @@ -419552,6 +417370,7 @@ xref: OMIM:619290 {source="MONDO:equivalentTo"} xref: Orphanet:438274 {source="MONDO:equivalentTo"} xref: UMLS:C4763635 {source="MONDO:equivalentTo", source="MEDGEN:1677024", source="MONDO:MEDGEN"} is_a: MONDO:0021040 {source="Orphanet:438274", source="https://orcid.org/0000-0001-5208-3432"} ! pancreatic neoplasm +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4192 {source="OMIM:619290"} [Term] id: MONDO:0018583 @@ -423064,6 +420883,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0018230 {source="PMID:26608784", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia is_a: MONDO:0800063 {source="PMID:26608784", source="https://orcid.org/0009-0001-6494-4831"} ! primordial dwarfism and slender bone disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18654 {source="OMIM:614833"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -423130,8 +420950,9 @@ xref: Orphanet:468726 {source="MONDO:equivalentTo"} xref: UMLS:C5575503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814174"} is_a: MONDO:0100477 {source="PMID:33340416"} ! disorder of methylamine metabolism intersection_of: MONDO:0011182 ! trimethylaminuria -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3771 ! FMO3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3771 relationship: excluded_subClassOf MONDO:0019189 {source="Orphanet:468726", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of amino acid and other organic acid metabolism +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3771 {source="OMIM:602079"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3448" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -423653,6 +421474,7 @@ is_a: MONDO:0000009 {source="MONDO:0017142-obsoleted"} ! inherited bleeding diso is_a: MONDO:0005020 {source="Orphanet:477787"} ! intestinal disorder is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0018794 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9035 {source="OMIM:618372"} [Term] id: MONDO:0018795 @@ -424105,7 +421927,7 @@ xref: UMLS:C5567524 {source="MEDGEN:1798947", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0024237 {source="Orphanet:480864"} ! inherited neurodegenerative disorder relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:480864", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25439 {source="MONDO:mim2gene_medgen"} ! TANGO2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25439 {source="OMIM:616878"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13423/tango2-related-metabolic-encephalopathy-and-arrhythmias" xsd:anyURI {source="GARD:0013423"} @@ -424274,6 +422096,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic is_a: MONDO:0009626 {source="OMIM:617397"} ! pseudo-TORCH syndrome is_a: MONDO:0957408 {source="Orphanet:481665", source="PMID:37161741"} ! type 1 interferonopathy of childhood relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617397", source="Orphanet:481665"} ! Autosomal recessive inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12616 {source="OMIM:617397"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI @@ -424973,7 +422796,6 @@ xref: UMLS:C0263428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease is_a: MONDO:0021036 {source="https://orcid.org/0000-0002-6601-2165"} ! keratosis pilaris -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6692 {source="MONDO:mim2gene_medgen"} ! LRP1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1042/burnett-schwartz-berberian-syndrome" xsd:anyURI {source="GARD:0001042"} [Term] @@ -425554,7 +423376,6 @@ is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous s is_a: MONDO:0015356 {source="MESH:D016864", source="NCIT:C3476", source="Orphanet:524"} ! hereditary neoplastic syndrome relationship: has_characteristic HP:0000006 {source="OMIM:151623", source="Orphanet:524"} ! Autosomal dominant inheritance relationship: has_characteristic MONDO:0021152 {source="OMIMPS:151623"} ! inherited -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11998 {source="MONDO:mim2gene_medgen"} ! TP53 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6260" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -425734,6 +423555,7 @@ is_a: MONDO:0015756 {source="MONDO:Redundant", source="Orphanet:52688"} ! myeloi is_a: MONDO:0021058 {source="NCIT:C3247"} ! neoplastic syndrome relationship: disease_has_feature MONDO:0005170 {source="EFO:0000198", source="MONDO:Redundant", source="NCIT:C3247", source="ONCOTREE:MDS/inferred"} ! myeloid neoplasm relationship: disease_has_feature MONDO:0021138 {source="NCIT:C3247"} ! bone marrow cancer +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10768 {source="OMIM:614286"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5268" xsd:anyURI @@ -425906,7 +423728,6 @@ xref: icd11.foundation:352828432 {source="MONDO:equivalentTo"} xref: Orphanet:53698 {source="MONDO:equivalentTo"} is_a: MONDO:0016195 {source="Orphanet:209185", source="Orphanet:53698"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7) is_a: MONDO:0019952 {source="DOID:0111267", source="Orphanet:53698"} ! congenital myopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="Orphanet:53698"} ! MYH7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI [Term] @@ -426730,7 +424551,6 @@ relationship: disease_has_feature MONDO:0019289 {source="Orphanet:562"} ! hyperp relationship: excluded_subClassOf MONDO:0000426 {source="DOID:1858", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant disease relationship: excluded_subClassOf MONDO:0015945 {source="Orphanet:562", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete polymalformative genetic syndrome with increased risk of developing cancer relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:562", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 {source="MONDO:mim2gene_medgen"} ! GNAS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -427100,7 +424920,6 @@ is_a: MONDO:0100122 {source="PMID:20301728", source="PMID:32651481"} ! GNPTAB-mu is_a: MONDO:0800088 {source="Orphanet:577", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome relationship: excluded_subClassOf MONDO:0005381 {source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29670 {source="MONDO:mim2gene_medgen"} ! GNPTAB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3806/mucolipidosis-iii-alphabeta" xsd:anyURI {source="GARD:0003806"} @@ -427616,7 +425435,7 @@ is_a: MONDO:0016987 {source="DOID:0112107", source="Orphanet:59306"} ! neuroacan relationship: excluded_subClassOf MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia relationship: excluded_subClassOf MONDO:0003689 {source="https://orcid.org/0000-0001-5208-3432"} ! familial hemolytic anemia relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:59306", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12811 {source="MONDO:mim2gene_medgen"} ! XK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12811 {source="OMIM:300842"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10731/mcleod-neuroacanthocytosis-syndrome" xsd:anyURI {source="GARD:0010731"} @@ -428054,7 +425873,6 @@ xref: SCTID:702355008 {source="MONDO:equivalentTo"} xref: UMLS:C2931826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444151"} is_a: MONDO:0016120 {source="Orphanet:612"} ! myotonic syndrome is_a: MONDO:0019119 {source="Orphanet:612"} ! muscular channelopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10591 {source="OMIM:608390"} ! SCN4A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -428451,7 +426269,6 @@ relationship: excluded_subClassOf MONDO:0018792 {source="Orphanet:636", source=" relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:636", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma relationship: excluded_subClassOf MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:162200", source="Orphanet:636"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7765 {source="MONDO:mim2gene_medgen"} ! NF1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6623" xsd:anyURI @@ -428948,7 +426765,6 @@ xref: UMLS:C1853761 {source="MEDGEN:340052", source="MONDO:equivalentTo", source is_a: MONDO:0015244 {source="DOID:0050755", source="MONDO:Redundant", source="Orphanet:64753/inferred"} ! autosomal recessive cerebellar ataxia is_a: MONDO:0020127 {source="Orphanet:64753"} ! hereditary peripheral neuropathy is_a: MONDO:0020771 {source="OMIM:606002"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/445 {source="MONDO:mim2gene_medgen"} ! SETX [Term] id: MONDO:0018997 @@ -430806,7 +428622,6 @@ xref: OMIM:137940 {source="Orphanet:69735", source="MONDO:equivalentTo"} xref: UMLS:C4317151 {source="MEDGEN:1373459", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0007670 ! hypotrichosis-lymphedema-telangiectasia syndrome (grouping) -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11194 {source="MONDO:mim2gene_medgen"} ! SOX18 [Term] id: MONDO:0019074 @@ -431594,7 +429409,6 @@ xref: Orphanet:71275 {source="MONDO:equivalentTo", source="OMIM:268150"} xref: SCTID:37272000 {source="MONDO:equivalentTo"} xref: UMLS:C0272052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75772"} is_a: MONDO:0020102 {source="Orphanet:71275"} ! hereditary stomatocytosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10006 {source="MONDO:mim2gene_medgen"} ! RHAG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome" xsd:anyURI {source="GARD:0012916"} @@ -431760,7 +429574,6 @@ xref: Orphanet:71529 {source="MONDO:equivalentTo"} xref: SCTID:717269008 {source="MONDO:equivalentTo"} xref: UMLS:C4273958 {source="MEDGEN:903905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011122 {source="https://orcid.org/0000-0001-5208-3432"} ! obesity disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6932 {source="Orphanet:71529", source="https://orcid.org/0000-0001-5208-3432"} ! MC4R [Term] id: MONDO:0019116 @@ -432678,7 +430491,6 @@ xref: Orphanet:75234 {source="MONDO:equivalentTo"} xref: SCTID:57218003 {source="MONDO:equivalentTo", source="DOID:14502"} xref: UMLS:C0008384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40266"} is_a: MONDO:0800449 {source="DOID:14502", source="OMIM:278000", source="Orphanet:75234"} ! lysosomal acid lipase deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6617 {source="OMIM:278000"} ! LIPA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6379" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7116" xsd:anyURI @@ -432826,7 +430638,6 @@ is_a: MONDO:0005151 {source="MONDO:Redundant", source="Orphanet:754", source="Or is_a: MONDO:0020040 {source="MESH:D013734", source="Orphanet:754/inferred"} ! 46,XY disorder of sex development is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:754", source="Orphanet:754/inferred"} ! disorder of development or morphogenesis relationship: disease_has_basis_in_disruption_of GO:0004879 ! nuclear receptor activity -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/644 {source="MONDO:mim2gene_medgen"} ! AR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome" xsd:anyURI {source="GARD:0005803"} @@ -437469,7 +435280,7 @@ relationship: excluded_subClassOf MONDO:0005071 {source="OMIM:117550", source="h relationship: excluded_subClassOf MONDO:0006025 {source="DOID:14748", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive disease relationship: excluded_subClassOf MONDO:0019716 {source="Orphanet:821", source="https://orcid.org/0000-0001-5208-3432"} ! overgrowth syndrome relationship: has_characteristic MONDO:0021152 {source="OMIMPS:117550"} ! inherited -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14234 {source="MONDO:mim2gene_medgen"} ! NSD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14234 {source="OMIM:117550"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6321" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -439706,7 +437517,6 @@ xref: SCTID:715655000 {source="MONDO:equivalentTo"} xref: UMLS:C4275067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907865"} is_a: MONDO:0007100 {source="Orphanet:85451"} ! familial amyloid neuropathy is_a: MONDO:0016340 {source="Orphanet:85451", source="https://orcid.org/0000-0001-5208-3432"} ! familial restrictive cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12405 {source="Orphanet:85451", source="https://orcid.org/0000-0002-0587-4693"} ! TTR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7330" xsd:anyURI [Term] @@ -440789,6 +438599,7 @@ is_a: MONDO:0003847 {source="OMIM:618398"} ! hereditary disease is_a: MONDO:0005062 {source="EFO:1000552", source="MESH:C537503/inferred", source="MONDO:Redundant", source="NCIT:C6918/inferred", source="Orphanet:86884/inferred"} ! lymphoma is_a: MONDO:0015816 {source="Orphanet:86884"} ! indolent primary cutaneous T-cell lymphoma relationship: disease_has_location CL:0000084 {source="EFO:0000784"} ! T cell +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18437 {source="OMIM:618398"} [Term] id: MONDO:0019476 @@ -442073,6 +439884,7 @@ xref: Orphanet:90030 {source="MONDO:equivalentTo", source="OMIM:618660"} xref: UMLS:C5231513 {source="MEDGEN:1684855", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003664 {source="Orphanet:90030"} ! hemolytic anemia is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4623 {source="OMIM:618660"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI [Term] @@ -442922,8 +440734,9 @@ xref: UMLS:C0268336 {source="MEDGEN:120628", source="MONDO:equivalentTo", source is_a: MONDO:0007522 {source="Orphanet:90318"} ! Ehlers-Danlos syndrome, classic type is_a: MONDO:0020066 {source="MESH:C536195", source="MONDO:0019568/inferred", source="MONDO:Redundant", source="NCIT:C125697", source="OMIM:130010", source="Orphanet:90318/inferred"} ! Ehlers-Danlos syndrome intersection_of: MONDO:0020066 ! Ehlers-Danlos syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2210 ! COL5A2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2210 relationship: has_characteristic HP:0000006 {source="Orphanet:90318"} ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2210 {source="OMIM:130010"} [Term] id: MONDO:0019569 @@ -442963,7 +440776,6 @@ intersection_of: MONDO:0016006 ! Cockayne syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3439 ! ERCC8 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0019569 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:216400"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3439 {source="MONDO:mim2gene_medgen"} ! ERCC8 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1415/cockayne-syndrome-type-i" xsd:anyURI {source="GARD:0001415"} @@ -442996,7 +440808,6 @@ xref: Orphanet:90324 {source="OMIM:133540", source="MONDO:directSiblingOf"} xref: UMLS:C0751038 {source="MEDGEN:155487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016006 {source="DOID:0080908", source="NCIT:C135726", source="Orphanet:191/btnt", source="Orphanet:90322"} ! Cockayne syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:133540", source="Orphanet:90322"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 {source="MONDO:mim2gene_medgen"} ! ERCC6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -445078,7 +442889,7 @@ is_a: MONDO:0000226 {source="PMID:33340416", source="https://orcid.org/0000-0002 is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100510 {source="DOID:0050812", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="DOID:0050812", source="Orphanet:93282", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8604 {source="MONDO:mim2gene_medgen"} ! PAPSS2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8604 {source="OMIM:612847"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI @@ -447559,7 +445370,6 @@ xref: SCTID:111386004 {source="MONDO:equivalentTo", source="DOID:5230"} xref: UMLS:C0162569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57940"} is_a: MONDO:0015104 {source="NCIT:C84754"} ! porphyria cutanea tarda relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12591 {source="Orphanet:95159"} ! UROD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5128" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI @@ -450770,7 +448580,6 @@ xref: Orphanet:97238 {source="DOID:0060255", source="MONDO:equivalentTo", source xref: UMLS:C1832560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371357"} intersection_of: MONDO:0020704 ! inherited rippling muscle disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 ! CAV3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 {source="MONDO:mim2gene_medgen"} ! CAV3 [Term] id: MONDO:0019948 @@ -459972,7 +457781,6 @@ is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder is_a: MONDO:0015160 {source="Orphanet:99741"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019952 {source="Orphanet:99741"} ! congenital myopathy relationship: disease_shares_features_of MONDO:0018997 {source="MESH:C537504-modified"} ! Noonan syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10483 {source="OMIM:180901"} ! RYR1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8561/kousseff-nichols-syndrome" xsd:anyURI {source="GARD:0008561"} [Term] @@ -460189,7 +457997,7 @@ xref: Orphanet:99807 {source="MONDO:equivalentTo", source="OMIM:617507"} xref: UMLS:C1850056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337956"} is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder relationship: excluded_subClassOf MONDO:0009841 {source="https://orcid.org/0000-0001-5208-3432"} ! PEHO syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25523 {source="OMIM:617507"} ! CCDC88A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25523 {source="OMIM:617507"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -460480,7 +458288,8 @@ xref: Orphanet:99854 {source="MONDO:equivalentTo"} xref: UMLS:C5779972 {source="MEDGEN:1830482", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0800448 {source="DOID:0070374", source="OMIM:603896", source="Orphanet:99854"} ! leukoencephalopathy with vanishing white matter intersection_of: MONDO:0800448 ! leukoencephalopathy with vanishing white matter -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3257 ! EIF2B1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3257 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3257 {source="OMIM:603896"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6216" xsd:anyURI [Term] @@ -462469,7 +460278,6 @@ xref: Orphanet:373 {source="OMIM:312870"} xref: UMLS:C0796154 {source="MEDGEN:162917", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} intersection_of: MONDO:0010731 ! Simpson-Golabi-Behmel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4451 ! GPC3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4451 {source="MONDO:mim2gene_medgen"} ! GPC3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -462515,7 +460323,6 @@ is_a: MONDO:0100118 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar intersection_of: MONDO:0019701 ! chondrodysplasia punctata intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3133 ! EBP relationship: excluded_subClassOf MONDO:0017269 {source="Orphanet:35173", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked ichthyosis syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3133 {source="MONDO:mim2gene_medgen"} ! EBP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2114" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3906" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -462575,7 +460382,6 @@ xref: Orphanet:526 {source="OMIM:177200"} is_a: MONDO:0008323 {source="OMIM:177200"} ! Liddle syndrome intersection_of: MONDO:0008323 ! Liddle syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10600 ! SCNN1B -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10600 {source="MONDO:mim2gene_medgen"} ! SCNN1B [Term] id: MONDO:0020608 @@ -462621,6 +460427,7 @@ synonym: "KEL" RELATED ABBREVIATION [OMIM:110900] synonym: "Kell-Null" RELATED [OMIM:110900] synonym: "Ko" RELATED [OMIM:110900] xref: OMIM:110900 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6308 {source="OMIM:110900"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -462632,6 +460439,7 @@ synonym: "BLOOD GROUP, KIDD SYSTEM" RELATED [OMIM:111000] synonym: "JK" RELATED ABBREVIATION [OMIM:111000] synonym: "Kidd Blood Group System" RELATED [OMIM:111000] xref: OMIM:111000 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10918 {source="OMIM:111000"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -462665,6 +460473,7 @@ synonym: "blood group, Landsteiner-Wiener" EXACT [OMIM:111250, OMIM:genemap2] synonym: "Landsteiner-Wiener Blood Group System" RELATED [OMIM:111250] synonym: "LW" RELATED ABBREVIATION [OMIM:111250] xref: OMIM:111250 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5347 {source="OMIM:111250"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -462689,6 +460498,7 @@ synonym: "blood group, OK" EXACT [OMIM:111380, OMIM:genemap2] synonym: "BLOOD GROUP--OK" RELATED [OMIM:111380] synonym: "OK" RELATED ABBREVIATION [OMIM:111380] xref: OMIM:111380 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1116 {source="OMIM:111380"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -462779,6 +460589,7 @@ synonym: "blood group, Yt system" EXACT [OMIM:112100, OMIM:genemap2] synonym: "Cartwright Antigen" RELATED [OMIM:112100] synonym: "YT BLOOD GROUP ANTIGEN" RELATED [OMIM:112100] xref: OMIM:112100 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/108 {source="OMIM:112100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -462856,6 +460667,7 @@ xref: OMIM:617829 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:617829"} xref: UMLS:C4693362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638319"} is_a: MONDO:0020627 {source="OMIM:617829"} ! epileptic encephalopathy, infantile or early childhood +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4082 {source="OMIM:617829"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -463139,6 +460951,7 @@ xref: MEDGEN:1648412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618142 {source="MONDO:equivalentTo"} xref: UMLS:C4748348 {source="MEDGEN:1648412", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28005 {source="OMIM:618142"} [Term] id: MONDO:0020648 @@ -463498,7 +461311,6 @@ xref: UMLS:C2936791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0008803 {source="DOID:0081290", source="Orphanet:596008"} ! Antley-Bixler syndrome intersection_of: MONDO:0008803 ! Antley-Bixler syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 ! FGFR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 {source="MONDO:mim2gene_medgen"} ! FGFR2 [Term] id: MONDO:0020668 @@ -463722,8 +461534,8 @@ xref: Orphanet:2953 {source="OMIM:601776"} is_a: MONDO:0011142 {source="https://orcid.org/0000-0001-5208-3432"} ! Ehlers-Danlos syndrome, musculocontractural type is_a: MONDO:0020066 {source="OMIM:601776"} ! Ehlers-Danlos syndrome intersection_of: MONDO:0011142 ! Ehlers-Danlos syndrome, musculocontractural type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24464 ! CHST14 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24464 {source="MONDO:mim2gene_medgen"} ! CHST14 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24464 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24464 {source="OMIM:601776"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -463754,8 +461566,8 @@ is_a: MONDO:0007526 {source="https://orcid.org/0000-0001-5208-3432"} ! Ehlers-Da is_a: MONDO:0020066 {source="OMIM:130070"} ! Ehlers-Danlos syndrome is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0007526 ! Ehlers-Danlos syndrome, spondylodysplastic type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/930 ! B4GALT7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/930 {source="MONDO:mim2gene_medgen"} ! B4GALT7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/930 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/930 {source="OMIM:130070"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4025" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -463794,8 +461606,8 @@ xref: UMLS:C4551499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0007527 {source="Orphanet:75392/btnt"} ! Ehlers-Danlos syndrome, periodontitis type is_a: MONDO:0020066 {source="OMIM:130080"} ! Ehlers-Danlos syndrome intersection_of: MONDO:0007527 ! Ehlers-Danlos syndrome, periodontitis type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1246 ! C1R -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1246 {source="MONDO:mim2gene_medgen"} ! C1R +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1246 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1246 {source="OMIM:130080"} [Term] id: MONDO:0020685 @@ -463971,8 +461783,9 @@ xref: OMIM:277300 {source="MONDO:equivalentTo"} xref: Orphanet:2311 {source="OMIM:277300"} is_a: MONDO:0010180 {source="OMIM:277300"} ! autosomal recessive spondylocostal dysostosis intersection_of: MONDO:0000359 ! spondylocostal dysostosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2909 ! DLL3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2909 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2909 {source="OMIM:277300"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -464091,7 +461904,6 @@ synonym: "BRACHYDACTYLY, type A1" RELATED [OMIM:112500] synonym: "Farabee-type Brachydactyly" RELATED [OMIM:112500] xref: Orphanet:93388 {source="OMIM:112500"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5956 {source="MONDO:mim2gene_medgen"} ! IHH [Term] id: MONDO:0020702 @@ -464261,7 +462073,6 @@ xref: UMLS:C2748896 {source="MEDGEN:412662", source="MONDO:equivalentTo", source is_a: MONDO:0010765 {source="DOID:0111778", source="OMIM:400044"} ! 46,XY complete gonadal dysgenesis intersection_of: MONDO:0010765 {source="MONDO:mim2gene_medgen"} ! 46,XY complete gonadal dysgenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11311 {source="MONDO:mim2gene_medgen"} ! SRY -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11311 {source="MONDO:mim2gene_medgen"} ! SRY property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -464278,7 +462089,6 @@ xref: UMLS:C3887658 {source="MEDGEN:854500", source="MONDO:equivalentTo", source is_a: MONDO:0009937 {source="DOID:0081268", source="OMIM:265450"} ! pulmonary venoocclusive disease intersection_of: MONDO:0009937 ! pulmonary venoocclusive disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1078 ! BMPR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1078 {source="MONDO:mim2gene_medgen"} ! BMPR2 [Term] id: MONDO:0020714 @@ -464289,7 +462099,8 @@ xref: MEDGEN:1679560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:251900 {source="MONDO:equivalentTo"} xref: UMLS:C5193223 {source="MEDGEN:1679560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} intersection_of: MONDO:0009637 ! inborn mitochondrial myopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30546 ! FDX2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30546 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30546 {source="OMIM:251900"} [Term] id: MONDO:0020715 @@ -464327,8 +462138,8 @@ xref: Orphanet:95716 xref: UMLS:C1848805 {source="MEDGEN:336422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010132 {source="DOID:0112185", source="https://orcid.org/0000-0001-5208-3432"} ! familial thyroid dyshormonogenesis intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11040 ! SLC5A5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11040 {source="MONDO:mim2gene_medgen"} ! SLC5A5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11040 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11040 {source="OMIM:274400"} [Term] id: MONDO:0020717 @@ -464344,7 +462155,6 @@ xref: MEDGEN:348571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:194300 {source="MONDO:equivalentTo", source="Orphanet:170", source="Orphanet:170/e"} xref: UMLS:C1860238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348571"} is_a: MONDO:0008686 {source="DOID:0111573"} ! isolated familial wooly hair disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28929 {source="MONDO:mim2gene_medgen"} ! KRT74 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -464362,9 +462172,9 @@ xref: OMIM:615237 {source="MONDO:equivalentTo"} xref: Orphanet:2301 {source="OMIM:615237"} is_a: MONDO:0014097 {source="MONDO:prototype"} ! congenital short bowel syndrome intersection_of: MONDO:0014097 ! congenital short bowel syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24039 ! CLMP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24039 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24039 {source="MONDO:mim2gene_medgen"} ! CLMP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24039 {source="OMIM:615237"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4921" xsd:anyURI @@ -464440,7 +462250,6 @@ is_a: MONDO:0020099 {source="OMIM:300751", source="Orphanet:75563"} ! inherited intersection_of: MONDO:0015194 ! sideroblastic anemia intersection_of: has_characteristic HP:0001417 ! X-linked inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/397 ! ALAS2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/397 {source="MONDO:mim2gene_medgen"} ! ALAS2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -464457,7 +462266,6 @@ is_a: MONDO:0957318 {source="OMIM:167030"} ! nephrolithiasis, calcium oxalate intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10993 ! SLC26A1 intersection_of: predisposes_towards MONDO:0008171 ! nephrolithiasis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10993 {source="MONDO:mim2gene_medgen"} ! SLC26A1 [Term] id: MONDO:0020723 @@ -464484,8 +462292,8 @@ is_a: MONDO:0005520 {source="DC-OMIM:264700", source="MESH:C562688/inferred", so is_a: MONDO:0009924 {source="MONDO:prototype"} ! vitamin D-dependent rickets, type 1 is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder intersection_of: MONDO:0024299 ! vitamin D-dependent rickets -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2606 ! CYP27B1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2606 {source="MONDO:mim2gene_medgen"} ! CYP27B1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2606 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2606 {source="OMIM:264700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -464515,7 +462323,6 @@ is_a: MONDO:0031037 {source="MONDO:prototype", source="OMIM:116860"} ! famililal intersection_of: MONDO:0031037 ! famililal cerebral cavernous malformations intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1573 ! KRIT1 relationship: excluded_subClassOf MONDO:0000820 {source="DC-OMIM:116860", source="MONDO:Entailed", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral cavernous malformation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1573 {source="MONDO:mim2gene_medgen"} ! KRIT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -464578,9 +462385,9 @@ xref: UMLS:C1868139 {source="MEDGEN:358137", source="MONDO:equivalentTo", source is_a: MONDO:0000608 {source="OMIM:174000"} ! familial juvenile hyperuricemic nephropathy is_a: MONDO:0008264 {source="MONDO:prototype", source="Orphanet:88949"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia intersection_of: MONDO:0008264 ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7508 ! MUC1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7508 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0020726 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7508 {source="MONDO:mim2gene_medgen", source="Orphanet:88949"} ! MUC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7508 {source="OMIM:174000"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations" xsd:anyURI {source="GARD:0007002"} [Term] @@ -464601,7 +462408,6 @@ is_a: MONDO:0000732 {source="DC-OMIM:616045", source="OMIM:616045"} ! combined o is_a: MONDO:0014471 {source="MONDO:prototype"} ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/823 ! ATP5F1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/823 {source="MONDO:mim2gene_medgen"} ! ATP5F1A [Term] id: MONDO:0020728 @@ -464621,8 +462427,8 @@ xref: UMLS:C0473219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0009071 {source="MONDO:prototype"} ! hereditary renal hypouricemia is_a: MONDO:0968951 {source="OMIM:220150"} ! hypouricemia, renal intersection_of: MONDO:0009071 ! hereditary renal hypouricemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17989 ! SLC22A12 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17989 {source="MONDO:mim2gene_medgen"} ! SLC22A12 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17989 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17989 {source="OMIM:220150"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -464645,9 +462451,9 @@ xref: UMLS:C3152144 {source="MEDGEN:463494", source="MONDO:equivalentTo", source is_a: MONDO:0011096 {source="MONDO:prototype"} ! autosomal agammaglobulinemia is_a: MONDO:0015977 {source="MESH:C538056", source="MONDO:Redundant", source="OMIM:601495", source="Orphanet:33110/inferred"} ! agammaglobulinemia intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5541 ! IGHM +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5541 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0020729 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5541 {source="MONDO:mim2gene_medgen"} ! IGHM +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5541 {source="OMIM:601495"} [Term] id: MONDO:0020730 @@ -464667,7 +462473,6 @@ xref: UMLS:C5779776 {source="MEDGEN:1830382", source="MONDO:equivalentTo", sourc is_a: MONDO:0007275 {source="DOID:0070466", source="MONDO:prototype", source="OMIM:115430"} ! carpal tunnel syndrome intersection_of: MONDO:0007275 ! carpal tunnel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12405 ! TTR -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12405 {source="MONDO:mim2gene_medgen"} ! TTR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -464736,7 +462541,6 @@ is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0000-0001 intersection_of: MONDO:0008511 ! proximal symphalangism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 ! NOG relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:185800", source="Orphanet:3250"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 {source="MONDO:mim2gene_medgen"} ! NOG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6338" xsd:anyURI [Term] @@ -464747,6 +462551,7 @@ synonym: "AMP deaminase deficiency, erythrocytic" EXACT [OMIM:612874, OMIM:genem synonym: "erythrocyte AMP deaminase deficiency" EXACT [OMIM:612874] xref: OMIM:612874 {source="Orphanet:45", source="MONDO:obsoleteEquivalent", source="Orphanet:45/e"} xref: Orphanet:45 {source="OMIM:612874"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/470 {source="OMIM:612874"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -464773,7 +462578,6 @@ xref: UMLS:C1857451 {source="MEDGEN:347456", source="MONDO:equivalentTo", source is_a: MONDO:0009049 {source="DOID:0111623", source="MONDO:prototype"} ! Cushing syndrome due to macronodular adrenal hyperplasia intersection_of: MONDO:0009049 ! Cushing syndrome due to macronodular adrenal hyperplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 ! GNAS -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 {source="MONDO:mim2gene_medgen"} ! GNAS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -464793,8 +462597,8 @@ xref: Orphanet:1410 {source="OMIM:191480"} xref: UMLS:C4551573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640179"} is_a: MONDO:0008621 {source="MONDO:prototype"} ! uncombable hair syndrome intersection_of: MONDO:0008621 ! uncombable hair syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18337 ! PADI3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18337 {source="MONDO:mim2gene_medgen"} ! PADI3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18337 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18337 {source="OMIM:191480"} [Term] id: MONDO:0020737 @@ -464811,7 +462615,7 @@ xref: MEDGEN:905727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616732 {source="Orphanet:98676", source="MONDO:equivalentTo"} xref: UMLS:C4225227 {source="MEDGEN:905727", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0043878 {source="DC-OMIM:616732", source="OMIM:616732"} ! hereditary optic atrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18647 {source="MONDO:mim2gene_medgen"} ! RTN4IP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18647 {source="OMIM:616732"} [Term] id: MONDO:0020738 @@ -464829,7 +462633,6 @@ xref: UMLS:C4551592 {source="MEDGEN:1631916", source="MONDO:equivalentTo", sourc is_a: MONDO:0007990 {source="DOID:0112242", source="MONDO:prototype"} ! multiple benign circumferential skin creases on limbs intersection_of: MONDO:0007990 ! multiple benign circumferential skin creases on limbs intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20778 ! TUBB -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20778 {source="MONDO:mim2gene_medgen"} ! TUBB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -464847,8 +462650,8 @@ xref: Orphanet:300547 {source="OMIM:143880"} xref: UMLS:C4310232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934200"} is_a: MONDO:0000212 {source="DC-OMIM:143880", source="MONDO:Redundant", source="MONDO:prototype", source="OMIM:143880"} ! hypercalcemia, infantile intersection_of: MONDO:0000212 ! hypercalcemia, infantile -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2602 ! CYP24A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2602 {source="MONDO:mim2gene_medgen"} ! CYP24A1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2602 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2602 {source="OMIM:143880"} [Term] id: MONDO:0020740 @@ -464874,7 +462677,6 @@ is_a: MONDO:0010293 {source="DOID:0081078", source="MONDO:prototype", source="OM is_a: MONDO:0100162 {source="https://orcid.org/0000-0002-7437-8060"} ! IKBKG-related immunodeficiency with or without ectodermal dysplasia intersection_of: MONDO:0010293 ! ectodermal dysplasia and immune deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5961 ! IKBKG -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5961 {source="MONDO:mim2gene_medgen"} ! IKBKG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5520" xsd:anyURI @@ -464895,8 +462697,8 @@ xref: OMIM:266100 {source="Orphanet:3006", source="MONDO:equivalentTo", source=" xref: Orphanet:3006 {source="OMIM:266100"} is_a: MONDO:0009945 {source="DOID:0070519", source="MONDO:prototype"} ! pyridoxine-dependent epilepsy intersection_of: MONDO:0009945 ! pyridoxine-dependent epilepsy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/877 ! ALDH7A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/877 {source="MONDO:mim2gene_medgen"} ! ALDH7A1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/877 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/877 {source="OMIM:266100"} [Term] id: MONDO:0020742 @@ -465023,6 +462825,7 @@ xref: MEDGEN:1684715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618666 {source="MONDO:equivalentTo"} xref: UMLS:C5231453 {source="MEDGEN:1684715", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008863 {source="OMIM:618666", source="https://orcid.org/0000-0001-5208-3432"} ! sitosterolemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13886 {source="OMIM:618666"} [Term] id: MONDO:0020749 @@ -465036,6 +462839,7 @@ xref: OMIM:221770 {source="MONDO:equivalentTo"} xref: Orphanet:2770 {source="OMIM:221770"} xref: UMLS:C4721893 {source="MEDGEN:1648386", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009092 {source="OMIM:221770"} ! polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12449 {source="OMIM:221770"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -465049,6 +462853,7 @@ xref: OMIM:618193 {source="MONDO:equivalentTo"} xref: Orphanet:2770 {source="OMIM:618193"} xref: UMLS:C4748657 {source="MEDGEN:1648374", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009092 {source="OMIM:618193"} ! polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17761 {source="OMIM:618193"} [Term] id: MONDO:0020751 @@ -465060,6 +462865,7 @@ xref: MEDGEN:1648282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618182 {source="MONDO:equivalentTo"} xref: UMLS:C4748569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648282"} is_a: MONDO:0021272 {source="OMIM:618182"} ! inherited orthostatic hypotension +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2571 {source="OMIM:618182"} [Term] id: MONDO:0020752 @@ -465141,7 +462947,6 @@ is_a: MONDO:0000700 {source="DOID:0111181", source="OMIM:141500"} ! familial hem is_a: MONDO:0100254 {source="https://clinicalgenome.org/affiliation/40006/"} ! CACNA1A-related complex neurodevelopmental disorder intersection_of: MONDO:0000700 ! familial hemiplegic migraine intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 ! CACNA1A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 {source="MONDO:mim2gene_medgen"} ! CACNA1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5753" xsd:anyURI @@ -465242,6 +463047,7 @@ xref: OMIM:618646 {source="MONDO:equivalentTo"} xref: UMLS:C5231440 {source="MEDGEN:1684846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017868 {source="OMIM:618646"} ! diencephalic-mesencephalic junction dysplasia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0020762 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24959 {source="OMIM:618646"} [Term] id: MONDO:0020763 @@ -465364,6 +463170,7 @@ xref: MEDGEN:1673607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618387 {source="MONDO:equivalentTo"} xref: UMLS:C5193070 {source="MEDGEN:1673607", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020771 {source="OMIM:618387"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25716 {source="OMIM:618387"} [Term] id: MONDO:0020771 @@ -465483,6 +463290,7 @@ synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1" RE xref: OMIM:618005 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="OMIM:618005"} ! disease is_a: MONDO:0060720 {source="OMIM:618005"} ! congenital disorder of glycosylation with defective fucosylation +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4019 {source="OMIM:618005"} [Term] id: MONDO:0020776 @@ -465513,6 +463321,7 @@ xref: OMIM:618324 {source="MONDO:equivalentTo"} xref: UMLS:C5193028 {source="MEDGEN:1676187", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000001 {source="OMIM:618324"} ! disease is_a: MONDO:0060720 {source="OMIM:618324"} ! congenital disorder of glycosylation with defective fucosylation +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29500 {source="OMIM:618324"} [Term] id: MONDO:0020778 @@ -465526,7 +463335,7 @@ xref: OMIM:617236 {source="MONDO:equivalentTo"} xref: UMLS:C5193018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682048"} is_a: MONDO:0000001 {source="OMIM:617236"} ! disease is_a: MONDO:0014980 {source="OMIM:617236"} ! cone-rod dystrophy and hearing loss -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25740 {source="MONDO:mim2gene_medgen"} ! CEP78 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25740 {source="OMIM:617236"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -465557,6 +463366,7 @@ xref: OMIM:618358 {source="MONDO:equivalentTo"} xref: UMLS:C5193051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1675017"} is_a: MONDO:0000001 {source="OMIM:618358"} ! disease is_a: MONDO:0014980 {source="OMIM:618358"} ! cone-rod dystrophy and hearing loss +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1859 {source="OMIM:618358"} [Term] id: MONDO:0020781 @@ -465580,7 +463390,7 @@ is_a: MONDO:0000001 {source="OMIM:617186"} ! disease is_a: MONDO:0014960 {source="OMIM:617186"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy relationship: disease_has_basis_in_disruption_of GO:0052856 ! NADHX epimerase activity relationship: has_characteristic HP:0000007 {source="Orphanet:555407"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18453 {source="MONDO:mim2gene_medgen", source="Orphanet:555407"} ! NAXE +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18453 {source="OMIM:617186"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -465631,7 +463441,6 @@ is_a: MONDO:0000001 {source="OMIM:608354"} ! disease is_a: MONDO:0012016 {source="OMIM:608354"} ! capillary malformation-arteriovenous malformation syndrome relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0007864 {source="Orphanet:90307", source="https://orcid.org/0000-0001-5208-3432"} ! angioosteohypertrophic syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9871 {source="MONDO:mim2gene_medgen"} ! RASA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/114" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9787/parkes-weber-syndrome" xsd:anyURI {source="GARD:0009787"} @@ -465643,6 +463452,7 @@ synonym: "Short Sleep Phenotype" RELATED [OMIM:612975] synonym: "SHORT SLEEP, FAMILIAL NATURAL, 1" RELATED [OMIM:612975] synonym: "short sleep, familial natural, 1" EXACT [OMIM:612975, OMIM:genemap2] xref: OMIM:612975 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16617 {source="OMIM:612975"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -465662,7 +463472,6 @@ xref: UMLS:C4748670 {source="MEDGEN:1648502", source="MONDO:equivalentTo", sourc is_a: MONDO:0000001 {source="OMIM:618196"} ! disease is_a: MONDO:0012016 {source="OMIM:618196"} ! capillary malformation-arteriovenous malformation syndrome is_a: MONDO:0700080 {source="https://www.clinicalgenome.org/affiliation/40106/"} ! EPHB4-associated vascular malformation spectrum -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3395 {source="OMIM:618196"} ! EPHB4 [Term] id: MONDO:0020786 @@ -465688,7 +463497,6 @@ xref: OMIM:616418 {source="MONDO:equivalentTo"} xref: Orphanet:34527 {source="OMIM:616418"} xref: UMLS:C4225333 {source="MEDGEN:906582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0014631 {source="OMIM:616418"} ! hypomagnesemia, seizures, and intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/103 {source="MONDO:mim2gene_medgen"} ! CNNM2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -465718,7 +463526,7 @@ xref: OMIM:251290 {source="MONDO:equivalentTo"} xref: Orphanet:1229 {source="OMIM:251290"} xref: UMLS:C4552078 {source="MEDGEN:1639355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009626 {source="OMIM:251290"} ! pseudo-TORCH syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8104 {source="MONDO:mim2gene_medgen"} ! OCLN +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8104 {source="OMIM:251290"} [Term] id: MONDO:0020790 @@ -465738,7 +463546,7 @@ xref: Orphanet:2744 {source="OMIM:607313"} xref: UMLS:C4551964 {source="MONDO:equivalentTo", source="MEDGEN:1647423", source="MONDO:MEDGEN"} is_a: MONDO:0011810 {source="OMIM:607313"} ! horizontal gaze palsy with progressive scoliosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0020790 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13433 {source="MONDO:mim2gene_medgen"} ! ROBO3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13433 {source="OMIM:607313"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -465759,6 +463567,7 @@ xref: OMIM:122100 {source="MONDO:equivalentTo"} xref: Orphanet:98954 {source="OMIM:122100"} xref: UMLS:C5231499 {source="MEDGEN:1684668", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0007379 {source="DOID:0080670", source="OMIM:122100"} ! Meesmann corneal dystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6414 {source="OMIM:122100"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -465816,6 +463625,7 @@ xref: MEDGEN:1713787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618908 {source="MONDO:equivalentTo"} xref: UMLS:C5394456 {source="MEDGEN:1713787", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008394 {source="OMIM:618908"} ! Silver-Russell syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5009 {source="OMIM:618908"} [Term] id: MONDO:0020796 @@ -466205,6 +464015,7 @@ xref: UMLS:C5193014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000426 {source="DOID:0111600"} ! autosomal dominant disease is_a: MONDO:0011128 {source="DOID:0111600"} ! Sheldon-hall syndrome relationship: has_characteristic HP:0000006 {source="DOID:0111600"} ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11946 {source="OMIM:601680"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -466286,6 +464097,7 @@ xref: MEDGEN:1644330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617996 {source="MONDO:equivalentTo"} xref: UMLS:C4693865 {source="MEDGEN:1644330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0014769 {source="OMIM:617996"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19684 {source="OMIM:617996"} [Term] id: MONDO:0020838 @@ -466314,6 +464126,7 @@ xref: MEDGEN:1648298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618042 {source="MONDO:equivalentTo"} xref: UMLS:C4747984 {source="MEDGEN:1648298", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8086 {source="OMIM:618042"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -466388,6 +464201,7 @@ xref: MEDGEN:1648279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618103 {source="MONDO:equivalentTo"} xref: UMLS:C4748192 {source="MEDGEN:1648279", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DOID:0081225", source="OMIM:618103"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21205 {source="OMIM:618103"} [Term] id: MONDO:0020847 @@ -466403,6 +464217,7 @@ xref: MEDGEN:1648488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618106 {source="MONDO:equivalentTo"} xref: UMLS:C4748195 {source="MEDGEN:1648488", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015802 {source="OMIM:618106"} ! autosomal dominant non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10760 {source="OMIM:618106"} [Term] id: MONDO:0020848 @@ -466448,6 +464263,7 @@ xref: MEDGEN:1648401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618109 {source="MONDO:equivalentTo"} xref: UMLS:C4748219 {source="MEDGEN:1648401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DOID:0081226", source="OMIM:618109"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18039 {source="OMIM:618109"} [Term] id: MONDO:0020851 @@ -466462,6 +464278,7 @@ xref: MEDGEN:1648394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618110 {source="MONDO:equivalentTo"} xref: UMLS:C4748224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648394"} is_a: MONDO:0004983 {source="DOID:0111913", source="OMIM:618110", source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20122 {source="OMIM:618110"} [Term] id: MONDO:0020852 @@ -466474,6 +464291,7 @@ xref: MEDGEN:1648419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618112 {source="MONDO:equivalentTo"} xref: UMLS:C4748234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648419"} is_a: MONDO:0004983 {source="OMIM:618112", source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17728 {source="OMIM:618112"} [Term] id: MONDO:0020853 @@ -466506,7 +464324,6 @@ xref: UMLS:C4748251 {source="MEDGEN:1648476", source="MONDO:equivalentTo", sourc is_a: MONDO:0008323 {source="OMIM:618114"} ! Liddle syndrome intersection_of: MONDO:0008323 ! Liddle syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10602 ! SCNN1G -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10602 {source="MONDO:mim2gene_medgen"} ! SCNN1G [Term] id: MONDO:0020855 @@ -466534,6 +464351,7 @@ xref: MEDGEN:1648485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618116 {source="MONDO:equivalentTo"} xref: UMLS:C4748257 {source="MEDGEN:1648485", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000159 {source="OMIM:618116", source="https://orcid.org/0000-0001-5208-3432"} ! bone marrow failure syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29401 {source="OMIM:618116"} [Term] id: MONDO:0020857 @@ -466566,6 +464384,7 @@ xref: MEDGEN:1648429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618120 {source="MONDO:equivalentTo"} xref: UMLS:C4748269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648429"} is_a: MONDO:0000066 ! mitochondrial complex deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/837 {source="OMIM:618120"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -467007,6 +464826,7 @@ xref: SCTID:35400008 {source="EFO:0006513", source="MONDO:directSiblingOf"} xref: UMLS:C3469186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854011"} is_a: MONDO:0006507 {source="DOID:0111029", source="NCIT:C84764", source="OMIM:235200"} ! hereditary hemochromatosis relationship: excluded_subClassOf MONDO:0016363 {source="Orphanet:465508", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare hereditary hemochromatosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4886 {source="OMIM:235200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -467205,7 +465025,6 @@ xref: OMIM:118700 {source="MONDO:equivalentTo", source="EFO:0004152", source="Or xref: Orphanet:1429 {source="OMIM:118700"} xref: UMLS:C0393584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98278"} is_a: MONDO:0001595 ! choreatic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11825 {source="MONDO:mim2gene_medgen"} ! NKX2-1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -467253,8 +465072,8 @@ xref: SCTID:403796005 {source="MONDO:equivalentTo"} xref: UMLS:C1313961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272036"} is_a: MONDO:0018053 {source="MONDO:Redundant", source="NCIT:C146899", source="OMIM:234050"} ! trichothiodystrophy intersection_of: MONDO:0018053 ! trichothiodystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16002 ! MPLKIP -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16002 {source="MONDO:mim2gene_medgen"} ! MPLKIP +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16002 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16002 {source="OMIM:234050"} [Term] id: MONDO:0021016 @@ -467316,8 +465135,8 @@ xref: Orphanet:34516 {source="DOID:0110305", source="MONDO:equivalentTo"} xref: UMLS:C4721885 {source="MEDGEN:1648441", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015151 {source="DOID:0110305", source="MONDO:Redundant", source="OMIM:603511", source="Orphanet:34516"} ! muscular dystrophy, limb-girdle, autosomal dominant intersection_of: MONDO:0015151 ! muscular dystrophy, limb-girdle, autosomal dominant -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14888 ! DNAJB6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14888 {source="MONDO:mim2gene_medgen"} ! DNAJB6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14888 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14888 {source="OMIM:603511"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -467356,7 +465175,6 @@ is_a: MONDO:0043209 {source="MESH:C537863/inferred", source="NCIT:C118785"} ! al is_a: MONDO:0700230 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! GPR143-related foveal hypoplasia intersection_of: MONDO:0017304 ! ocular albinism intersection_of: has_characteristic HP:0001419 ! X-linked recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20145 {source="MONDO:mim2gene_medgen"} ! GPR143 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI @@ -467389,7 +465207,6 @@ xref: SCTID:8933000 {source="MONDO:equivalentTo"} xref: UMLS:C0010324 {source="MEDGEN:41346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002408 {source="MONDO:0021020/inferred", source="MONDO:Redundant", source="OMIM:218800"} ! hereditary hyperbilirubinemia is_a: MONDO:0009044 {source="Orphanet:79234"} ! Crigler-Najjar syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12530 {source="MONDO:mim2gene_medgen"} ! UGT1A1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/47/crigler-najjar-syndrome-type-1" xsd:anyURI {source="GARD:0000047"} [Term] @@ -467410,7 +465227,6 @@ xref: MESH:C567275 {source="MONDO:equivalentTo"} xref: OMIM:122860 {source="MONDO:equivalentTo", source="Orphanet:1513"} xref: UMLS:C2675746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382678"} is_a: MONDO:0015465 ! craniometaphyseal dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13771 {source="MONDO:mim2gene_medgen"} ! SOST property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -467616,6 +465432,7 @@ xref: MEDGEN:349263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:203650 {source="MONDO:equivalentTo"} xref: UMLS:C1859878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349263"} is_a: MONDO:0008756 {source="DOID:0080628", source="OMIM:203650"} ! alopecia - intellectual disability syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/349 {source="OMIM:203650"} [Term] id: MONDO:0021036 @@ -468142,7 +465959,6 @@ is_a: MONDO:0016362 {source="MONDO:Redundant", source="Orphanet:220460/btnt"} ! is_a: MONDO:0021055 {source="DC-OMIM:175100", source="DOID:0080409", source="OMIM:175100"} ! classic familial adenomatous polyposis intersection_of: MONDO:0016362 ! attenuated familial adenomatous polyposis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/583 ! APC -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/583 {source="MONDO:mim2gene_medgen"} ! APC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -468825,7 +466641,6 @@ is_a: MONDO:0007614 {source="DOID:0081015", source="MONDO:Redundant", source="OM intersection_of: MONDO:0007614 ! congenital fibrosis of extraocular muscles intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19349 ! KIF21A relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19349 {source="MONDO:mim2gene_medgen"} ! KIF21A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -469065,10 +466880,10 @@ xref: UMLS:C0432235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0009032 {source="DOID:0080803", source="MONDO:Redundant", source="OMIM:218330"} ! cranioectodermal dysplasia is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia intersection_of: MONDO:0009032 ! cranioectodermal dysplasia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13556 ! IFT122 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13556 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0021093 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:218330"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13556 {source="MONDO:mim2gene_medgen"} ! IFT122 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13556 {source="OMIM:218330"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -477220,6 +475035,7 @@ xref: Orphanet:100032 {source="OMIM:617607"} xref: UMLS:C4539891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621302"} is_a: MONDO:0019507 {source="DOID:0080243", source="MONDO:Redundant", source="OMIM:617607"} ! amelogenesis imperfecta is_a: MONDO:0968955 {source="https://orcid.org/0000-0001-5493-2602"} ! hypocalcified amelogenesis imperfecta +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33188 {source="OMIM:617607"} [Term] id: MONDO:0021548 @@ -477373,7 +475189,6 @@ intersection_of: MONDO:0015151 ! muscular dystrophy, limb-girdle, autosomal domi intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 ! LMNA relationship: disease_shares_features_of MONDO:0010680 {source="PMID:12376891"} ! X-linked Emery-Dreifuss muscular dystrophy relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10230/limb-girdle-muscular-dystrophy-type-1b" xsd:anyURI {source="GARD:0010230"} [Term] @@ -477419,8 +475234,8 @@ xref: Orphanet:488191 {source="MONDO:relatedTo", source="OMIM:616780"} xref: UMLS:C4225210 {source="MEDGEN:903836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0014769 {source="MONDO:Redundant", source="OMIM:616780"} ! inherited oocyte maturation defect intersection_of: MONDO:0014769 ! inherited oocyte maturation defect -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20773 ! TUBB8 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20773 {source="MONDO:mim2gene_medgen"} ! TUBB8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20773 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20773 {source="OMIM:616780"} [Term] id: MONDO:0021574 @@ -477432,6 +475247,7 @@ xref: OMIM:617712 {source="MONDO:equivalentTo"} xref: Orphanet:404466 {source="OMIM:617712", source="MONDO:directSiblingOf"} xref: UMLS:C4540205 {source="MEDGEN:1617317", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0014769 {source="OMIM:617712"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13189 {source="OMIM:617712"} [Term] id: MONDO:0021575 @@ -477446,6 +475262,7 @@ xref: OMIM:617743 {source="MONDO:equivalentTo"} xref: Orphanet:488191 {source="OMIM:617743", source="MONDO:relatedTo"} xref: UMLS:C4540284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1616340"} is_a: MONDO:0014769 {source="OMIM:617743"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33630 {source="OMIM:617743"} [Term] id: MONDO:0021576 @@ -485083,7 +482900,6 @@ synonym: "FRAXD" RELATED ABBREVIATION [GARD:0002377] xref: GARD:2377 {source="MONDO:GARD"} is_a: MONDO:0019040 {source="PMID:1532475", source="PMID:1605182"} ! chromosomal disorder relationship: disease_arises_from_structure CHR:9606-chrXq27.2 {source="PMID:1532475", source="PMID:1605182"} ! Xq27.2 (Human) -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3948 {source="https://orcid.org/0000-0002-6601-2165"} ! FRAXD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI property_value: IAO:0006012 "2024-09-01" xsd:string property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2377/fraxd" xsd:anyURI {source="GARD:0002377"} @@ -487077,6 +484893,7 @@ xref: OMIM:619320 {source="MONDO:equivalentTo"} xref: Orphanet:528084 {source="OMIM:619320"} xref: UMLS:C5543371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787923"} is_a: MONDO:0100172 {source="OMIM:619320"} ! intellectual disability, autosomal dominant +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29136 {source="OMIM:619320"} [Term] id: MONDO:0023659 @@ -487092,6 +484909,7 @@ xref: OMIM:619340 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:619340"} xref: UMLS:C5543446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780167"} is_a: MONDO:0100062 {source="DOID:0070377", source="OMIM:619340"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8016 {source="OMIM:619340"} [Term] id: MONDO:0023660 @@ -487115,6 +484933,7 @@ xref: MEDGEN:1780452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619369 {source="MONDO:equivalentTo"} xref: UMLS:C5543531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780452"} is_a: MONDO:0019313 {source="OMIM:619369"} ! lymphatic malformation +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/485 {source="OMIM:619369"} [Term] id: MONDO:0023663 @@ -487138,6 +484957,7 @@ xref: MEDGEN:1782493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619379 {source="MONDO:equivalentTo"} xref: UMLS:C5543570 {source="MEDGEN:1782493", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="DOID:0112335", source="OMIM:619379"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25062 {source="OMIM:619379"} [Term] id: MONDO:0023670 @@ -487228,7 +485048,7 @@ xref: OMIM:248600 {source="MONDO:equivalentTo"} xref: UMLS:C1855369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383668"} is_a: MONDO:0009563 {source="OMIM:248600", source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0023691 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/986 {source="MONDO:mim2gene_medgen"} ! BCKDHA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/986 {source="OMIM:248600"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8594/maple-syrup-urine-disease-type-1a" xsd:anyURI {source="GARD:0008594"} [Term] @@ -487249,7 +485069,7 @@ xref: OMIM:620698 {source="MONDO:equivalentTo"} xref: UMLS:C2930990 {source="MEDGEN:443951", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009563 {source="OMIM:620698", source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0023692 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/987 {source="MONDO:mim2gene_medgen"} ! BCKDHB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/987 {source="OMIM:620698"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8597/maple-syrup-urine-disease-type-1b" xsd:anyURI {source="GARD:0008597"} [Term] @@ -487267,7 +485087,7 @@ xref: MEDGEN:343337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620699 {source="MONDO:equivalentTo"} xref: UMLS:C1855371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343337"} is_a: MONDO:0009563 {source="OMIM:620699", source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2698 {source="MONDO:mim2gene_medgen"} ! DBT +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2698 {source="OMIM:620699"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8596/maple-syrup-urine-disease-type-2" xsd:anyURI {source="GARD:0008596"} [Term] @@ -487283,7 +485103,6 @@ xref: OMIM:248810 {source="GARD:0008745", source="MONDO:equivalentObsolete"} xref: UMLS:C0796036 {source="MEDGEN:163207", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 ! syndromic disease relationship: disease_shares_features_of MONDO:0009567 ! Marinesco-Sjogren syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18986 {source="https://doi.org/10.1371/journal.pone.0169309"} ! GBA2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8745/marinesco-sjogren-like-syndrome-msls" xsd:anyURI {source="GARD:0008745"} [Term] @@ -488035,6 +485854,7 @@ xref: UMLS:C1869118 {source="MEDGEN:358389", source="MONDO:equivalentTo", source is_a: MONDO:0000045 {source="OMIM:218700"} ! hypothyroidism, congenital, nongoitrous is_a: MONDO:0018612 {source="DOID:0070124", source="MONDO:indirect"} ! congenital hypothyroidism relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8622 {source="OMIM:218700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -488078,8 +485898,8 @@ xref: Orphanet:466729 {source="OMIM:617039"} xref: UMLS:C4310753 {source="MEDGEN:934720", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011827 {source="DC-OMIM:617039", source="MONDO:Redundant", source="OMIM:617039"} ! patent ductus arteriosus intersection_of: MONDO:0011827 ! patent ductus arteriosus -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9350 ! PRDM6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9350 {source="MONDO:mim2gene_medgen"} ! PRDM6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9350 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9350 {source="OMIM:617039"} [Term] id: MONDO:0024267 @@ -489953,8 +487773,8 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic is_a: MONDO:0008389 {source="MONDO:Redundant", source="Orphanet:3107"} ! autosomal dominant Robinow syndrome is_a: MONDO:0019978 {source="DOID:0060766", source="MONDO:Redundant", source="OMIM:180700"} ! Robinow syndrome intersection_of: MONDO:0008389 ! autosomal dominant Robinow syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12784 ! WNT5A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12784 {source="MONDO:mim2gene_medgen"} ! WNT5A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12784 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12784 {source="OMIM:180700"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3711" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2013/dysostosis-acral-with-facial-and-genital-abnormalities" xsd:anyURI {source="GARD:0002013"} @@ -489995,7 +487815,6 @@ is_a: MONDO:0005041 {source="MESH:C535535", source="MONDO:Redundant", source="MO is_a: MONDO:0019503 {source="OMIM:601631"} ! anterior segment dysgenesis is_a: MONDO:0100235 {source="https://clinicalgenome.org/affiliation/40077/"} ! FOXC1-related anterior segment dysgenesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0024456 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3800 {source="MONDO:mim2gene_medgen"} ! FOXC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5789" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2482/glaucoma-iridogoniodysgenesia" xsd:anyURI {source="GARD:0002482"} @@ -490047,7 +487866,6 @@ is_a: MONDO:0002283 {source="MESH:C536071", source="MONDO:Redundant", source="OM is_a: MONDO:0017998 {source="Orphanet:35069"} ! PLA2G6-associated neurodegeneration is_a: MONDO:0018307 {source="DOID:0110735", source="MONDO:MEDIC", source="MONDO:Redundant", source="OMIM:256600", source="Orphanet:35069"} ! neurodegeneration with brain iron accumulation is_a: MONDO:0020127 {source="Orphanet:35069"} ! hereditary peripheral neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9039 {source="MONDO:mim2gene_medgen"} ! PLA2G6 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2751/hunter-carpenter-macdonald-syndrome" xsd:anyURI {source="GARD:0002751"} [Term] @@ -490142,7 +487960,6 @@ xref: OMIM:233300 {source="MONDO:equivalentTo"} xref: Orphanet:243 {source="OMIM:233300"} xref: UMLS:C0949595 {source="MEDGEN:215397", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009299 {source="DOID:0080493", source="OMIM:233300"} ! 46 XX gonadal dysgenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3969 {source="MONDO:mim2gene_medgen"} ! FSHR [Term] id: MONDO:0024464 @@ -490166,8 +487983,8 @@ xref: Orphanet:95494 {source="OMIM:613038"} xref: UMLS:C2751608 {source="MEDGEN:414421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:613038"} ! combined pituitary hormone deficiencies, genetic form intersection_of: MONDO:0013099 ! combined pituitary hormone deficiencies, genetic form -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9210 ! POU1F1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9210 {source="MONDO:mim2gene_medgen"} ! POU1F1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9210 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9210 {source="OMIM:613038"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -490188,6 +488005,7 @@ xref: Orphanet:217566 {source="OMIM:610913", source="MONDO:directSiblingOf"} xref: Orphanet:440392 {source="OMIM:610913", source="MONDO:directSiblingOf"} xref: UMLS:C1970470 {source="MEDGEN:410078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0012580 {source="OMIM:610913"} ! hereditary pulmonary alveolar proteinosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10802 {source="OMIM:610913"} [Term] id: MONDO:0024466 @@ -490683,6 +488501,7 @@ xref: Orphanet:360 {source="MONDO:relatedTo", source="OMIM:137800"} xref: Orphanet:94 {source="MONDO:relatedTo", source="OMIM:137800"} xref: UMLS:C2750850 {source="MONDO:equivalentTo", source="MEDGEN:413414", source="MONDO:MEDGEN"} is_a: MONDO:0100242 {source="OMIM:137800"} ! glioma susceptibility +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5382 {source="OMIM:137800"} relationship: predisposes_towards MONDO:0100342 ! malignant glioma property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -490903,8 +488722,8 @@ xref: UMLS:C4551482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:100300"} ! Adams-Oliver syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0007034 ! Adams-Oliver syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29216 ! ARHGAP31 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29216 {source="MONDO:mim2gene_medgen"} ! ARHGAP31 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29216 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29216 {source="OMIM:100300"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -491026,6 +488845,7 @@ xref: OMIM:191830 {source="MONDO:equivalentTo"} xref: Orphanet:411709 {source="OMIM:191830"} xref: UMLS:C1619700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:301437"} is_a: MONDO:0018470 {source="OMIM:191830"} ! renal agenesis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6144 {source="OMIM:191830"} [Term] id: MONDO:0024520 @@ -491084,8 +488904,8 @@ xref: Orphanet:353220 {source="OMIM:105250"} xref: UMLS:C4551501 {source="MEDGEN:1639046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0007101 {source="MONDO:0024522/inferred", source="MONDO:Redundant", source="OMIM:105250"} ! familial primary localized cutaneous amyloidosis intersection_of: MONDO:0007101 ! familial primary localized cutaneous amyloidosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8507 ! OSMR -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8507 {source="MONDO:mim2gene_medgen"} ! OSMR +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8507 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8507 {source="OMIM:105250"} [Term] id: MONDO:0024523 @@ -491115,7 +488935,6 @@ is_a: MONDO:0003803 {source="MONDO:Redundant", source="OMIM:109730"} ! aortic va is_a: MONDO:0007194 {source="DOID:0080333", source="OMIM:109730"} ! familial bicuspid aortic valve intersection_of: MONDO:0003803 ! aortic valve disorder intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7881 ! NOTCH1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7881 {source="MONDO:mim2gene_medgen"} ! NOTCH1 [Term] id: MONDO:0024524 @@ -491183,7 +489002,6 @@ is_a: MONDO:0000200 {source="MONDO:Redundant", source="OMIM:135500"} ! Zimmerman is_a: MONDO:0100485 {source="https://clinicalgenome.org/affiliation/40006/"} ! KCNH1 associated disorder intersection_of: MONDO:0000200 ! Zimmermann-Laband syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6250 ! KCNH1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6250 {source="MONDO:mim2gene_medgen"} ! KCNH1 [Term] id: MONDO:0024527 @@ -491224,7 +489042,6 @@ is_a: MONDO:0000090 {source="MONDO:0024528/inferred", source="MONDO:Redundant", is_a: MONDO:0008003 {source="MONDO:Redundant"} ! autosomal dominant progressive external ophthalmoplegia intersection_of: MONDO:0008003 ! autosomal dominant progressive external ophthalmoplegia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9179 ! POLG -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9179 {source="MONDO:mim2gene_medgen"} ! POLG [Term] id: MONDO:0024529 @@ -491286,7 +489103,6 @@ xref: UMLS:C4011726 {source="MEDGEN:860163", source="MONDO:equivalentTo", source is_a: MONDO:0008051 {source="MONDO:Redundant", source="OMIM:160565"} ! tubular aggregate myopathy intersection_of: MONDO:0008051 ! tubular aggregate myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11386 ! STIM1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11386 {source="MONDO:mim2gene_medgen"} ! STIM1 [Term] id: MONDO:0024532 @@ -491310,7 +489126,6 @@ xref: UMLS:C3714941 {source="MEDGEN:811516", source="MONDO:equivalentTo", source is_a: MONDO:0008163 {source="MONDO:Redundant", source="OMIM:166780"} ! otofaciocervical syndrome intersection_of: MONDO:0008163 ! otofaciocervical syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3519 ! EYA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3519 {source="MONDO:mim2gene_medgen"} ! EYA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -491339,7 +489154,6 @@ xref: UMLS:C4552070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0017148 {source="MONDO:Redundant", source="OMIM:178600"} ! heritable pulmonary arterial hypertension intersection_of: MONDO:0017148 ! heritable pulmonary arterial hypertension intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1078 ! BMPR2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1078 {source="MONDO:mim2gene_medgen"} ! BMPR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -491363,7 +489177,6 @@ is_a: MONDO:0000118 {source="MONDO:Redundant", source="OMIM:179850"} ! reticulat is_a: MONDO:0008371 {source="MONDO:Redundant"} ! Dowling-Degos disease intersection_of: MONDO:0008371 ! Dowling-Degos disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6442 ! KRT5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6442 {source="MONDO:mim2gene_medgen"} ! KRT5 [Term] id: MONDO:0024535 @@ -491385,7 +489198,6 @@ is_a: MONDO:0700262 {source="https://clinicalgenome.org/affiliation/40060/", sou is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0008429 ! Singleton-Merten dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18873 ! IFIH1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18873 {source="MONDO:mim2gene_medgen"} ! IFIH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI @@ -491412,8 +489224,8 @@ xref: Orphanet:361 {source="OMIM:202200"} xref: UMLS:C4049650 {source="MEDGEN:885551", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008733 {source="DOID:0080621", source="MONDO:Redundant", source="OMIM:202200"} ! familial glucocorticoid deficiency intersection_of: MONDO:0008733 ! familial glucocorticoid deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6930 ! MC2R -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6930 {source="MONDO:mim2gene_medgen"} ! MC2R +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6930 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6930 {source="OMIM:202200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -491448,7 +489260,6 @@ is_a: MONDO:0008891 {source="DOID:0080785", source="MONDO:indirect", source="OMI intersection_of: MONDO:0008891 ! riboflavin transporter deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16187 ! SLC52A3 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0024537 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16187 {source="MONDO:mim2gene_medgen"} ! SLC52A3 [Term] id: MONDO:0024538 @@ -491479,8 +489290,9 @@ xref: Orphanet:1980 {source="OMIM:606656", source="OMIM:213600"} xref: UMLS:C4551624 {source="MEDGEN:1637664", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:213600", source="OMIM:606656", source="Orphanet:1980/btnt"} ! bilateral striopallidodentate calcinosis intersection_of: MONDO:0008947 ! bilateral striopallidodentate calcinosis -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10947 ! SLC20A2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10947 relationship: has_characteristic MONDO:0700005 ! idiopathic +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10947 {source="OMIM:213600"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4277" xsd:anyURI [Term] @@ -491506,7 +489318,6 @@ is_a: MONDO:0100441 {source="https://clinicalgenome.org/affiliation/40072/"} ! G intersection_of: MONDO:0008982 ! central areolar choroidal dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 ! GUCY2D relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 {source="MONDO:mim2gene_medgen"} ! GUCY2D property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -491532,7 +489343,6 @@ xref: UMLS:C4551509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002441 {source="MONDO:Redundant", source="OMIM:220400"} ! Jervell and Lange-Nielsen syndrome intersection_of: MONDO:0002441 ! Jervell and Lange-Nielsen syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6294 ! KCNQ1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6294 {source="MONDO:mim2gene_medgen"} ! KCNQ1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -491558,7 +489368,6 @@ xref: UMLS:C4551982 {source="MEDGEN:1644087", source="MONDO:equivalentTo", sourc is_a: MONDO:0009105 {source="DOID:0111415", source="MONDO:Redundant", source="OMIM:222470"} ! trichohepatoenteric syndrome intersection_of: MONDO:0009105 ! trichohepatoenteric syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23639 ! SKIC3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23639 {source="MONDO:mim2gene_medgen"} ! SKIC3 [Term] id: MONDO:0024542 @@ -491588,9 +489397,9 @@ xref: Orphanet:1766 {source="OMIM:224050"} xref: UMLS:C4551552 {source="MEDGEN:1639436", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:224050"} ! cerebellar ataxia, intellectual disability, and dysequilibrium intersection_of: MONDO:0009133 ! cerebellar ataxia, intellectual disability, and dysequilibrium -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12698 ! VLDLR +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12698 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0024542 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12698 {source="MONDO:mim2gene_medgen"} ! VLDLR +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12698 {source="OMIM:224050"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -491617,9 +489426,9 @@ xref: SCTID:31798004 {source="MONDO:equivalentTo"} xref: UMLS:C0268344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78661"} is_a: MONDO:0009242 {source="MONDO:Redundant", source="OMIM:229200"} ! brittle cornea syndrome intersection_of: MONDO:0009242 ! brittle cornea syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23216 ! ZNF469 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23216 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:229200"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23216 {source="MONDO:mim2gene_medgen"} ! ZNF469 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23216 {source="OMIM:229200"} [Term] id: MONDO:0024544 @@ -491658,7 +489467,6 @@ is_a: MONDO:0016145 ! qualitative or quantitative defects of dysferlin is_a: MONDO:0018949 {source="MONDO:Redundant", source="OMIM:254130"} ! distal myopathy intersection_of: MONDO:0009685 ! Miyoshi myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3097 ! DYSF -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3097 {source="MONDO:mim2gene_medgen"} ! DYSF property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy" xsd:string {source="GARD:0009676"} [Term] @@ -491690,7 +489498,6 @@ xref: UMLS:C4551679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0016620 {source="MONDO:0024546/inferred", source="MONDO:Redundant", source="OMIM:259100"} ! primary hypertrophic osteoarthropathy intersection_of: MONDO:0016620 ! primary hypertrophic osteoarthropathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5154 ! HPGD -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5154 {source="MONDO:mim2gene_medgen"} ! HPGD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -491717,7 +489524,6 @@ is_a: MONDO:0009832 {source="MONDO:Redundant", source="OMIM:260370"} ! pancreati intersection_of: MONDO:0009832 ! pancreatic agenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6107 ! PDX1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0024547 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6107 {source="MONDO:mim2gene_medgen"} ! PDX1 [Term] id: MONDO:0024548 @@ -491756,7 +489562,6 @@ is_a: MONDO:0010033 {source="Orphanet:263553"} ! generalized peeling skin syndro is_a: MONDO:0019347 {source="MONDO:Redundant", source="OMIM:270300"} ! peeling skin syndrome intersection_of: MONDO:0019347 ! peeling skin syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1802 ! CDSN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1802 {source="MONDO:mim2gene_medgen"} ! CDSN [Term] id: MONDO:0024549 @@ -491796,7 +489601,6 @@ is_a: MONDO:0015942 {source="DOID:0111786", source="MONDO:Redundant", source="OM is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder intersection_of: MONDO:0015942 ! frontometaphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 ! FLNA -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -491832,8 +489636,9 @@ xref: UMLS:C5399825 {source="MEDGEN:1770239", source="MONDO:equivalentTo", sourc is_a: MONDO:0000001 {source="Orphanet:538931"} ! disease is_a: MONDO:0010627 {source="Orphanet:538931"} ! X-linked lymphoproliferative syndrome intersection_of: MONDO:0010627 ! X-linked lymphoproliferative syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10820 ! SH2D1A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10820 relationship: has_characteristic HP:0001419 {source="Orphanet:538931"} ! X-linked recessive inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10820 {source="OMIM:308240"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -491860,9 +489665,9 @@ xref: Orphanet:2556 {source="OMIM:309801"} xref: UMLS:C0796070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163210"} is_a: MONDO:0010672 {source="DOID:0111808", source="MONDO:Redundant", source="OMIM:309801"} ! linear skin defects with multiple congenital anomalies intersection_of: MONDO:0010672 ! linear skin defects with multiple congenital anomalies -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4837 ! HCCS +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4837 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4837 {source="MONDO:mim2gene_medgen"} ! HCCS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4837 {source="OMIM:309801"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -491888,8 +489693,8 @@ xref: Orphanet:2598 {source="OMIM:600462"} xref: UMLS:C4551958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634824"} is_a: MONDO:0000863 {source="DOID:0111185", source="MONDO:0024553/inferred", source="MONDO:Redundant", source="OMIM:600462"} ! myopathy, lactic acidosis, and sideroblastic anemia intersection_of: MONDO:0000863 ! myopathy, lactic acidosis, and sideroblastic anemia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15508 ! PUS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15508 {source="MONDO:mim2gene_medgen"} ! PUS1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15508 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15508 {source="OMIM:600462"} [Term] id: MONDO:0024554 @@ -491909,8 +489714,8 @@ xref: Orphanet:79315 {source="OMIM:600721"} xref: UMLS:C3152055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463405"} is_a: MONDO:0010924 {source="DOID:0111351", source="MONDO:Redundant", source="OMIM:600721"} ! D-2-hydroxyglutaric aciduria intersection_of: MONDO:0010924 ! D-2-hydroxyglutaric aciduria -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28358 ! D2HGDH -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28358 {source="MONDO:mim2gene_medgen"} ! D2HGDH +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28358 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28358 {source="OMIM:600721"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -491934,6 +489739,7 @@ xref: Orphanet:2478 {source="OMIM:604004"} xref: UMLS:C5779875 {source="MEDGEN:1826136", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000137 {source="MONDO:Redundant", source="OMIM:604004"} ! leukoencephalopathy, megalencephalic is_a: MONDO:0011391 {source="DOID:0080316", source="https://orcid.org/0000-0001-5208-3432"} ! megalencephalic leukoencephalopathy with subcortical cysts +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17082 {source="OMIM:604004"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -491959,7 +489765,6 @@ xref: UMLS:C4551983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020310 {source="DOID:0081421", source="MONDO:Redundant", source="OMIM:604364"} ! familial focal epilepsy with variable foci intersection_of: MONDO:0020310 ! familial focal epilepsy with variable foci intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18423 ! DEPDC5 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18423 {source="MONDO:mim2gene_medgen"} ! DEPDC5 [Term] id: MONDO:0024557 @@ -491986,8 +489791,8 @@ xref: Orphanet:251347 {source="MONDO:equivalentTo", source="OMIM:604391"} xref: UMLS:C4012790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:861227"} is_a: MONDO:0011457 {source="MONDO:Redundant", source="OMIM:604391"} ! ataxia-telangiectasia-like disorder intersection_of: MONDO:0011457 ! ataxia-telangiectasia-like disorder -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7230 ! MRE11 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7230 {source="MONDO:mim2gene_medgen"} ! MRE11 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7230 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7230 {source="OMIM:604391"} [Term] id: MONDO:0024558 @@ -492010,9 +489815,9 @@ xref: Orphanet:71289 {source="OMIM:605432"} xref: UMLS:C4551975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1637913"} is_a: MONDO:0011555 {source="MONDO:Redundant", source="OMIM:605432"} ! radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome intersection_of: MONDO:0011555 ! radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5101 ! HOXA11 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5101 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0024558 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5101 {source="MONDO:mim2gene_medgen"} ! HOXA11 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5101 {source="OMIM:605432"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -492077,7 +489882,6 @@ is_a: MONDO:0000390 {source="MONDO:Redundant", source="OMIM:608161"} ! vitellifo is_a: MONDO:0011979 ! adult-onset foveomacular vitelliform dystrophy intersection_of: MONDO:0000390 ! vitelliform macular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9942 ! PRPH2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9942 {source="MONDO:mim2gene_medgen"} ! PRPH2 [Term] id: MONDO:0024562 @@ -492100,7 +489904,6 @@ xref: UMLS:C1837845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0012061 {source="MONDO:0024562/inferred", source="MONDO:Redundant", source="OMIM:608567"} ! familial sick sinus syndrome intersection_of: MONDO:0012061 ! familial sick sinus syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 ! SCN5A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 {source="MONDO:mim2gene_medgen"} ! SCN5A [Term] id: MONDO:0024563 @@ -492119,11 +489922,11 @@ xref: OMIM:610551 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="OMIM:610551"} xref: UMLS:C2750180 {source="MEDGEN:413772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13481 ! UNC93B1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13481 intersection_of: predisposes_towards MONDO:0100198 ! Mendelian encephalopathy relationship: excluded_subClassOf MONDO:0000166 {source="MONDO:Redundant", source="OMIM:610551", source="https://orcid.org/0000-0001-5208-3432"} ! encephalopathy, acute, infection-induced relationship: excluded_subClassOf MONDO:0012521 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! herpes simplex encephalitis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13481 {source="MONDO:mim2gene_medgen"} ! UNC93B1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13481 {source="OMIM:610551"} relationship: predisposes_towards MONDO:0100198 {source="OMIM:610551"} ! Mendelian encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -492148,8 +489951,8 @@ xref: Orphanet:313838 {source="OMIM:612199"} xref: UMLS:C4552029 {source="MEDGEN:1636142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0012815 {source="MONDO:Redundant", source="OMIM:612199"} ! Coats plus syndrome intersection_of: MONDO:0012815 ! Coats plus syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26169 ! CTC1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26169 {source="MONDO:mim2gene_medgen"} ! CTC1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26169 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26169 {source="OMIM:612199"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -492169,8 +489972,8 @@ xref: Orphanet:247820 {source="OMIM:613573"} xref: UMLS:C3150807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462157"} is_a: MONDO:0013311 {source="MONDO:Redundant", source="OMIM:613573"} ! ectodermal dysplasia-syndactyly syndrome intersection_of: MONDO:0013311 ! ectodermal dysplasia-syndactyly syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19688 ! NECTIN4 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19688 {source="MONDO:mim2gene_medgen"} ! NECTIN4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19688 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19688 {source="OMIM:613573"} [Term] id: MONDO:0024566 @@ -492189,7 +489992,6 @@ xref: Orphanet:165805 {source="OMIM:614418"} xref: UMLS:C3280734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482364"} is_a: MONDO:0000032 {source="DOID:0111308", source="MONDO:Redundant", source="OMIM:614418"} ! febrile seizures, familial is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17245 {source="MONDO:mim2gene_medgen"} ! CPA6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI [Term] @@ -492212,7 +490014,6 @@ xref: UMLS:C3809454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0014176 {source="MONDO:Redundant", source="OMIM:615419"} ! hypotonia, infantile, with psychomotor retardation and characteristic facies intersection_of: MONDO:0014176 ! hypotonia, infantile, with psychomotor retardation and characteristic facies intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19082 ! NALCN -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19082 {source="MONDO:mim2gene_medgen"} ! NALCN [Term] id: MONDO:0024568 @@ -492242,8 +490043,8 @@ xref: UMLS:C3809522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000001 {source="Orphanet:370088"} ! disease is_a: MONDO:0000023 {source="DC-OMIM:615438", source="DOID:0080717", source="MONDO:Redundant", source="OMIM:615438"} ! infantile liver failure intersection_of: MONDO:0000023 ! infantile liver failure -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6512 ! LARS1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6512 {source="MONDO:mim2gene_medgen"} ! LARS1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6512 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6512 {source="OMIM:615438"} [Term] id: MONDO:0024569 @@ -492285,7 +490086,6 @@ is_a: MONDO:0016166 {source="MONDO:Redundant", source="OMIM:617343"} ! hereditar is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder intersection_of: MONDO:0015027 ! familial isolated hyperparathyroidism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4198 ! GCM2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4198 {source="MONDO:mim2gene_medgen"} ! GCM2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -492469,6 +490269,7 @@ xref: OMIM:617404 {source="DOID:0080197", source="MONDO:equivalentTo"} xref: UMLS:C4479410 {source="MEDGEN:1382291", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019950 {source="DOID:0080197"} ! congenital muscular dystrophy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33882 {source="OMIM:617404"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -493779,6 +491580,7 @@ xref: MEDGEN:1808082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301074 {source="MONDO:equivalentTo"} xref: UMLS:C5575495 {source="MEDGEN:1808082", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0031384 {source="OMIM:301074"} ! autoinflammatory syndrome, familial, Behcet-like +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3319 {source="OMIM:301074"} [Term] id: MONDO:0024771 @@ -493805,6 +491607,7 @@ xref: MEDGEN:1803486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301076 {source="MONDO:equivalentTo"} xref: UMLS:C5676881 {source="MEDGEN:1803486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020119 {source="DOID:0070422", source="OMIM:301076", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4327 {source="OMIM:301076"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -493816,6 +491619,7 @@ xref: MEDGEN:1804024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301077 {source="MONDO:equivalentTo"} xref: UMLS:C5676882 {source="MEDGEN:1804024", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="OMIM:301077"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15805 {source="OMIM:301077"} [Term] id: MONDO:0024777 @@ -493829,6 +491633,7 @@ xref: MEDGEN:1805285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301078 {source="MONDO:equivalentTo"} xref: UMLS:C5676883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805285"} is_a: MONDO:0021094 {source="OMIM:301078"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15632 {source="OMIM:301078"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -493849,6 +491654,7 @@ xref: OMIM:301082 {source="MONDO:equivalentTo"} xref: Orphanet:653751 {source="MONDO:equivalentTo"} xref: UMLS:C5676886 {source="MEDGEN:1812534", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:301082"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15975 {source="OMIM:301082"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -495176,6 +492982,7 @@ xref: OMIM:301056 {source="MONDO:equivalentTo"} xref: UMLS:C5542341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788942"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25402 {source="OMIM:301056"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -495210,6 +493017,7 @@ xref: OMIM:301059 {source="MONDO:equivalentTo"} xref: UMLS:C5542347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1784059"} is_a: MONDO:0004983 {source="DOID:0112274", source="OMIM:301059"} ! spermatogenic failure relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0025354 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26708 {source="OMIM:301059"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -495221,6 +493029,7 @@ xref: MEDGEN:1779119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301060 {source="MONDO:equivalentTo"} xref: UMLS:C5542351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779119"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2041 {source="OMIM:301060"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -496092,6 +493901,7 @@ xref: MEDGEN:1782107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619278 {source="MONDO:equivalentTo"} xref: UMLS:C5543294 {source="MEDGEN:1782107", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100328 {source="OMIM:619278"} ! microcephaly, epilepsy, and diabetes syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24877 {source="OMIM:619278"} [Term] id: MONDO:0025691 @@ -496105,6 +493915,7 @@ xref: MEDGEN:1785079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619291 {source="MONDO:equivalentTo"} xref: UMLS:C5543312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1785079"} is_a: MONDO:0044807 {source="OMIM:619291"} ! inherited dystonia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14584 {source="OMIM:619291"} [Term] id: MONDO:0025699 @@ -496119,6 +493930,7 @@ xref: MEDGEN:1782096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619325 {source="MONDO:equivalentTo"} xref: UMLS:C5444111 {source="MONDO:equivalentTo", source="MEDGEN:1782096", source="MONDO:MEDGEN"} is_a: MONDO:0015452 {source="DOID:0112370", source="OMIM:619325"} ! Coffin-Siris syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4332 {source="OMIM:619325"} [Term] id: MONDO:0025701 @@ -496132,6 +493944,7 @@ xref: MEDGEN:1787833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619328 {source="MONDO:equivalentTo"} xref: UMLS:C5543406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787833"} is_a: MONDO:0019046 {source="DOID:0070402", source="OMIM:619328"} ! leukodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8514 {source="OMIM:619328"} [Term] id: MONDO:0025708 @@ -496167,6 +493980,7 @@ xref: MEDGEN:1784046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619366 {source="MONDO:equivalentTo"} xref: UMLS:C5543526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1784046"} is_a: MONDO:0019623 {source="OMIM:619366"} ! hereditary angioedema +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3656 {source="OMIM:619366"} [Term] id: MONDO:0025956 @@ -496444,6 +494258,7 @@ xref: MESH:C564716 {source="MONDO:equivalentTo"} xref: OMIM:300087 {source="MONDO:equivalentTo"} xref: UMLS:C1848138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338394"} is_a: MONDO:0100209 {source="OMIM:300087"} ! X inactivation, familial skewed +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12810 {source="OMIM:300087"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -496488,7 +494303,8 @@ xref: UMLS:C4746984 {source="MEDGEN:1648278", source="MONDO:equivalentTo", sourc is_a: MONDO:0000001 {source="OMIM:301020"} ! disease is_a: MONDO:0100223 {source="DOID:0112099", source="OMIM:301020"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7683 ! NDUFA1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7683 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7683 {source="OMIM:301020"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -496538,6 +494354,7 @@ xref: OMIM:301024 {source="MONDO:equivalentTo"} xref: UMLS:C5193009 {source="MEDGEN:1680544", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000001 {source="OMIM:301024"} ! disease is_a: MONDO:0019181 {source="OMIM:301024"} ! non-syndromic X-linked intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17123 {source="OMIM:301024"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -496554,6 +494371,7 @@ xref: UMLS:C5193010 {source="MEDGEN:1683361", source="MONDO:equivalentTo", sourc is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0020119 {source="DOID:0111843", source="OMIM:301025", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0020119 {source="OMIM:301025", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19133 {source="OMIM:301025"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -496572,6 +494390,7 @@ xref: Orphanet:656 {source="OMIM:301028"} xref: UMLS:C5193011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678854"} is_a: MONDO:0000001 {source="OMIM:301028"} ! disease is_a: MONDO:0002350 {source="DOID:0070357", source="OMIM:301028"} ! familial nephrotic syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24715 {source="OMIM:301028"} [Term] id: MONDO:0026727 @@ -496587,6 +494406,7 @@ xref: MEDGEN:1674076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301029 {source="MONDO:equivalentTo"} xref: UMLS:C5193146 {source="MONDO:equivalentTo", source="MEDGEN:1674076", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:301029"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25657 {source="OMIM:301029"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -496627,6 +494447,7 @@ xref: UMLS:C5231394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0026730 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0020119 {source="OMIM:301032", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7370 {source="OMIM:301032"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -496645,6 +494466,7 @@ xref: UMLS:C5231395 {source="MEDGEN:1684717", source="MONDO:equivalentTo", sourc is_a: MONDO:0000001 {source="OMIM:301033"} ! disease is_a: MONDO:0000045 {source="OMIM:301033"} ! hypothyroidism, congenital, nongoitrous relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11585 {source="OMIM:301033"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -496663,6 +494485,7 @@ xref: UMLS:C5231396 {source="MEDGEN:1684807", source="MONDO:equivalentTo", sourc is_a: MONDO:0000001 {source="OMIM:301035"} ! disease is_a: MONDO:0000045 {source="OMIM:301035"} ! hypothyroidism, congenital, nongoitrous relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6128 {source="OMIM:301035"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -496682,6 +494505,7 @@ xref: OMIM:301039 {source="MONDO:equivalentTo"} xref: UMLS:C5393302 {source="MEDGEN:1716269", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000001 {source="OMIM:301039"} ! disease is_a: MONDO:0020119 {source="OMIM:301039", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29873 {source="OMIM:301039"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -496907,6 +494731,7 @@ xref: OMIM:400047 {source="MONDO:equivalentTo"} xref: UMLS:C5193013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677048"} is_a: MONDO:0000001 {source="OMIM:400047"} ! disease is_a: MONDO:0033304 {source="DOID:0111758", source="OMIM:400047"} ! nonsyndromic deafness, Y-linked +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18502 {source="OMIM:400047"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -496925,7 +494750,6 @@ is_a: MONDO:0100134 {source="https://github.com/monarch-initiative/mondo/issues/ intersection_of: MONDO:0100134 ! mitochondrial complex I deficiency, mitochondrial type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7458 ! MT-ND3 relationship: excluded_subClassOf MONDO:0000001 {source="OMIM:500014", source="https://orcid.org/0000-0001-5208-3432"} ! disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7458 ! MT-ND3 [Term] id: MONDO:0027069 @@ -496991,7 +494815,7 @@ xref: SCTID:724207001 {source="MONDO:equivalentTo"} xref: UMLS:C0795833 {source="MEDGEN:208639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0012455 {source="DOID:0060352", source="OMIM:610253"} ! Kleefstra syndrome relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070075", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24650 {source="MONDO:mim2gene_medgen"} ! EHMT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24650 {source="OMIM:610253"} [Term] id: MONDO:0027416 @@ -497042,6 +494866,7 @@ xref: Orphanet:357074 {source="OMIM:617402"} xref: UMLS:C4479387 {source="MEDGEN:1385755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019573 {source="DOID:0070140/inferred", source="OMIM:617402"} ! autosomal recessive cutis laxa type 2 relationship: excluded_subClassOf MONDO:0009054 {source="DOID:0070140", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive cutis laxa type 2, classic type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/857 {source="OMIM:617402"} [Term] id: MONDO:0027652 @@ -497121,9 +494946,9 @@ xref: Orphanet:2190 {source="MONDO:relatedTo", source="OMIM:143400"} xref: UMLS:C5574705 {source="MONDO:equivalentTo", source="MEDGEN:1804316", source="MONDO:MEDGEN"} is_a: MONDO:0019719 {source="DOID:0080207", source="MONDO:Redundant", source="OMIM:143400"} ! congenital anomaly of kidney and urinary tract intersection_of: MONDO:0019719 ! congenital anomaly of kidney and urinary tract -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11595 ! TBX18 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11595 relationship: disease_has_feature HP:0000074 ! Ureteropelvic junction obstruction -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11595 {source="MONDO:mim2gene_medgen"} ! TBX18 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11595 {source="OMIM:143400"} [Term] id: MONDO:0027677 @@ -497447,6 +495272,7 @@ xref: OMIM:618124 {source="MONDO:equivalentTo"} xref: UMLS:C4748283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648480"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0029131 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6946 {source="OMIM:618124"} [Term] id: MONDO:0029132 @@ -497496,11 +495322,11 @@ xref: UMLS:C4748304 {source="MEDGEN:1648422", source="MONDO:equivalentTo", sourc is_a: MONDO:0006025 {source="DOID:0111984"} ! autosomal recessive disease is_a: MONDO:0021094 {source="OMIM:618131"} ! immunodeficiency disease intersection_of: MONDO:0015974 ! severe combined immunodeficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27089 ! CARMIL2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27089 relationship: excluded_subClassOf MONDO:0000001 {source="Orphanet:542301", source="https://orcid.org/0000-0001-5208-3432"} ! disease relationship: excluded_subClassOf MONDO:0016537 {source="Orphanet:542301", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoproliferative syndrome relationship: has_characteristic HP:0000007 {source="Orphanet:542301"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27089 {source="Orphanet:542301"} ! CARMIL2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27089 {source="OMIM:618131"} [Term] id: MONDO:0029135 @@ -497545,7 +495371,6 @@ is_a: MONDO:0015152 {source="OMIM:618138", source="Orphanet:565837"} ! autosomal is_a: MONDO:0100228 {source="PMID:30055037", source="https://clinicalgenome.org/affiliation/40031/"} ! LAMA2-related muscular dystrophy intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6482 ! LAMA2 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6482 {source="OMIM:618138"} ! LAMA2 [Term] id: MONDO:0029137 @@ -497562,6 +495387,7 @@ xref: MEDGEN:1648467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618140 {source="MONDO:equivalentTo"} xref: UMLS:C4748334 {source="MEDGEN:1648467", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019587 {source="DOID:0112165", source="OMIM:618140"} ! autosomal dominant nonsyndromic hearing loss +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8776 {source="OMIM:618140"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -497581,6 +495407,7 @@ xref: MEDGEN:1648285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618141 {source="MONDO:equivalentTo"} xref: UMLS:C4748341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648285"} is_a: MONDO:0100062 {source="DOID:0112203", source="OMIM:618141"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19347 {source="OMIM:618141"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -497598,6 +495425,7 @@ xref: OMIM:618143 {source="MONDO:equivalentTo"} xref: UMLS:C4748357 {source="MEDGEN:1648478", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14937 {source="OMIM:618143"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -497612,6 +495440,7 @@ xref: MEDGEN:1648315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618144 {source="MONDO:equivalentTo"} xref: UMLS:C4748364 {source="MEDGEN:1648315", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019501 {source="OMIM:618144"} ! Usher syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24102 {source="OMIM:618144"} [Term] id: MONDO:0029142 @@ -497627,6 +495456,7 @@ xref: MEDGEN:1648423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618145 {source="MONDO:equivalentTo"} xref: UMLS:C4748374 {source="MEDGEN:1648423", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DOID:0111640", source="OMIM:618145"} ! hearing loss, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3496 {source="OMIM:618145"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -497641,6 +495471,7 @@ xref: MEDGEN:1648403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618147 {source="MONDO:equivalentTo"} xref: UMLS:C4748381 {source="MEDGEN:1648403", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1596 {source="OMIM:618147"} [Term] id: MONDO:0029144 @@ -497659,6 +495490,7 @@ xref: UMLS:C4748387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0029144 {source="MONDO:CLINGEN"} relationship: disease_has_basis_in_disruption_of GO:0018549 ! methanethiol oxidase activity +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10719 {source="OMIM:618148"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -497695,6 +495527,7 @@ xref: MEDGEN:1648473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618152 {source="MONDO:equivalentTo"} xref: UMLS:C4748395 {source="MEDGEN:1648473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="DOID:0111915", source="OMIM:618152", source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28506 {source="OMIM:618152"} [Term] id: MONDO:0029148 @@ -497709,6 +495542,7 @@ xref: MEDGEN:1648297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618153 {source="MONDO:equivalentTo"} xref: UMLS:C4748403 {source="MEDGEN:1648297", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="DOID:0111911", source="OMIM:618153", source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21675 {source="OMIM:618153"} [Term] id: MONDO:0029465 @@ -497772,8 +495606,9 @@ xref: OMIM:618830 {source="MONDO:equivalentTo"} xref: UMLS:C5394226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1717195"} is_a: MONDO:0020836 {source="OMIM:300425", source="OMIM:618830"} ! autism, susceptiblity to intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14291 ! NLGN1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14291 intersection_of: predisposes_towards MONDO:0005260 ! autism +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14291 {source="OMIM:618830"} [Term] id: MONDO:0030005 @@ -497807,6 +495642,7 @@ xref: OMIM:618835 {source="MONDO:equivalentTo"} xref: Orphanet:570491 {source="MONDO:equivalentTo"} xref: UMLS:C5394232 {source="MEDGEN:1714731", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0112117", source="OMIM:618835"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21020 {source="OMIM:618835"} [Term] id: MONDO:0030007 @@ -497822,6 +495658,7 @@ xref: MEDGEN:1711853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618838 {source="MONDO:equivalentTo"} xref: UMLS:C5394236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711853"} is_a: MONDO:0000732 {source="DOID:0112119", source="OMIM:618838"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8849 {source="OMIM:618838"} [Term] id: MONDO:0030008 @@ -497837,6 +495674,7 @@ xref: MEDGEN:1709379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618839 {source="MONDO:equivalentTo"} xref: UMLS:C5394237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1709379"} is_a: MONDO:0000732 {source="DOID:0112118", source="OMIM:618839"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25068 {source="OMIM:618839"} [Term] id: MONDO:0030009 @@ -497868,6 +495706,7 @@ xref: MEDGEN:1717461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618841 {source="MONDO:equivalentTo"} xref: UMLS:C5394246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1717461"} is_a: MONDO:0018555 {source="OMIM:618841"} ! hypogonadotropic hypogonadism +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26256 {source="OMIM:618841"} [Term] id: MONDO:0030012 @@ -497880,6 +495719,7 @@ xref: MEDGEN:1714920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618846 {source="MONDO:equivalentTo"} xref: UMLS:C5394263 {source="MEDGEN:1714920", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1337 {source="OMIM:618846"} [Term] id: MONDO:0030013 @@ -497893,6 +495733,7 @@ xref: MEDGEN:1717128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618847 {source="MONDO:equivalentTo"} xref: UMLS:C5394265 {source="MEDGEN:1717128", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:618847"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14334 {source="OMIM:618847"} [Term] id: MONDO:0030014 @@ -497906,6 +495747,7 @@ xref: MEDGEN:1718449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618848 {source="MONDO:equivalentTo"} xref: UMLS:C5394268 {source="MEDGEN:1718449", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015152 {source="OMIM:618848"} ! autosomal recessive limb-girdle muscular dystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17649 {source="OMIM:618848"} [Term] id: MONDO:0030015 @@ -497921,6 +495763,7 @@ xref: MEDGEN:1717739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618849 {source="MONDO:equivalentTo"} xref: UMLS:C5394274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1717739"} is_a: MONDO:0000159 {source="OMIM:618849"} ! bone marrow failure syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6974 {source="OMIM:618849"} [Term] id: MONDO:0030016 @@ -497943,6 +495786,7 @@ xref: MEDGEN:1718250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618851 {source="MONDO:equivalentTo"} xref: UMLS:C5394284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718250"} is_a: MONDO:0000732 {source="DOID:0112116", source="OMIM:618851"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17317 {source="OMIM:618851"} [Term] id: MONDO:0030018 @@ -497972,6 +495816,7 @@ xref: MEDGEN:1718444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618853 {source="MONDO:equivalentTo"} xref: UMLS:C5394289 {source="MEDGEN:1718444", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011773 {source="DOID:0080963", source="OMIM:618853"} ! anauxetic dysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24496 {source="OMIM:618853"} [Term] id: MONDO:0030020 @@ -497987,6 +495832,7 @@ xref: MEDGEN:1718899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618855 {source="MONDO:equivalentTo"} xref: UMLS:C5394293 {source="MEDGEN:1718899", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0070424", source="OMIM:618855"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29160 {source="OMIM:618855"} [Term] id: MONDO:0030024 @@ -498000,6 +495846,7 @@ xref: OMIM:618859 {source="MONDO:equivalentTo"} xref: UMLS:C5394311 {source="MEDGEN:1714862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7887 {source="OMIM:618859"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -498014,6 +495861,7 @@ xref: OMIM:618862 {source="MONDO:equivalentTo"} xref: UMLS:C5394312 {source="MEDGEN:1710110", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/226 {source="OMIM:618862"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -498027,6 +495875,7 @@ xref: MEDGEN:1715138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618863 {source="MONDO:equivalentTo"} xref: UMLS:C5394315 {source="MEDGEN:1715138", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23338 {source="OMIM:618863"} [Term] id: MONDO:0030027 @@ -498052,6 +495901,7 @@ xref: MEDGEN:1715031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618868 {source="MONDO:equivalentTo"} xref: UMLS:C5394335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1715031"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18798 {source="OMIM:618868"} [Term] id: MONDO:0030029 @@ -498064,6 +495914,7 @@ xref: MEDGEN:1711043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618870 {source="MONDO:equivalentTo"} xref: UMLS:C5394341 {source="MEDGEN:1711043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24290 {source="OMIM:618870"} [Term] id: MONDO:0030030 @@ -498076,6 +495927,7 @@ xref: MEDGEN:1715748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618872 {source="MONDO:equivalentTo"} xref: UMLS:C5394350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1715748"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16050 {source="OMIM:618872"} [Term] id: MONDO:0030031 @@ -498092,6 +495944,7 @@ xref: MEDGEN:1719546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618873 {source="MONDO:equivalentTo"} xref: UMLS:C5394354 {source="MEDGEN:1719546", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018838 {source="DOID:0112229", source="OMIM:618873"} ! lissencephaly spectrum disorders +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21638 {source="OMIM:618873"} [Term] id: MONDO:0030032 @@ -498115,6 +495968,7 @@ xref: MEDGEN:1713658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618875 {source="MONDO:equivalentTo"} xref: UMLS:C5394359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1713658"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24613 {source="OMIM:618875"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -498131,6 +495985,7 @@ xref: MEDGEN:1716712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618876 {source="MONDO:equivalentTo"} xref: UMLS:C5394362 {source="MONDO:equivalentTo", source="MEDGEN:1716712", source="MONDO:MEDGEN"} is_a: MONDO:0020074 {source="OMIM:618876"} ! progressive myoclonus epilepsy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10739 {source="OMIM:618876"} [Term] id: MONDO:0030035 @@ -498157,6 +496012,7 @@ xref: MEDGEN:1719764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618878 {source="MONDO:equivalentTo"} xref: UMLS:C5394371 {source="MEDGEN:1719764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24921 {source="OMIM:618878"} [Term] id: MONDO:0030037 @@ -498174,7 +496030,7 @@ xref: UMLS:C5394372 {source="MEDGEN:1710849", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8965 {source="OMIM:618879"} ! PIGK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8965 {source="OMIM:618879"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -498216,6 +496072,7 @@ xref: OMIM:618885 {source="MONDO:equivalentTo"} xref: UMLS:C5394387 {source="MEDGEN:1709627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005501 {source="OMIM:618885"} ! congenital disorder of glycosylation type II relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4124 {source="OMIM:618885"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -498253,7 +496110,7 @@ xref: Orphanet:589442 {source="MONDO:equivalentTo"} xref: UMLS:C5394404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1709796"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0003847 {source="OMIM:618889"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8999 {source="OMIM:618889"} ! PISD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8999 {source="OMIM:618889"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4928" xsd:anyURI [Term] @@ -498268,6 +496125,7 @@ xref: OMIM:618890 {source="MONDO:equivalentTo"} xref: UMLS:C5394423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711516"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14406 {source="OMIM:618890"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -498281,6 +496139,7 @@ xref: MEDGEN:1718781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618891 {source="MONDO:equivalentTo"} xref: UMLS:C5394425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718781"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1493 {source="OMIM:618891"} [Term] id: MONDO:0030048 @@ -498334,6 +496193,7 @@ xref: OMIM:618906 {source="MONDO:equivalentTo"} xref: UMLS:C5394447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1715081"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0030051 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30212 {source="OMIM:618906"} [Term] id: MONDO:0030052 @@ -498360,6 +496220,7 @@ xref: MEDGEN:1711964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618910 {source="MONDO:equivalentTo"} xref: UMLS:C5394462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711964"} is_a: MONDO:0100062 {source="DOID:0112220", source="OMIM:618910"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25536 {source="OMIM:618910"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -498377,6 +496238,7 @@ xref: OMIM:618912 {source="MONDO:equivalentTo"} xref: UMLS:C5394466 {source="MEDGEN:1714781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015363 {source="DOID:0081427", source="OMIM:618912"} ! neuronopathy, distal hereditary motor, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11184 {source="OMIM:618912"} [Term] id: MONDO:0030056 @@ -498409,6 +496271,7 @@ xref: MEDGEN:1712714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618914 {source="MONDO:equivalentTo"} xref: UMLS:C5394477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712714"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13607 {source="OMIM:618914"} [Term] id: MONDO:0030058 @@ -498425,6 +496288,7 @@ xref: MEDGEN:1709284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618915 {source="MONDO:equivalentTo"} xref: UMLS:C5394499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1709284"} is_a: MONDO:0019587 {source="DOID:0112168", source="OMIM:618915"} ! autosomal dominant nonsyndromic hearing loss +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/51 {source="OMIM:618915"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -498446,6 +496310,7 @@ xref: MEDGEN:1719688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618916 {source="MONDO:equivalentTo"} xref: UMLS:C5394501 {source="MEDGEN:1719688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100062 {source="DOID:0112221", source="OMIM:618916"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19338 {source="OMIM:618916"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -498462,6 +496327,7 @@ xref: UMLS:C5394502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0030060 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4572 {source="OMIM:618917"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -498515,6 +496381,7 @@ xref: OMIM:618922 {source="MONDO:equivalentTo"} xref: UMLS:C5394517 {source="MEDGEN:1708579", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4599 {source="OMIM:618922"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -498565,6 +496432,7 @@ xref: MEDGEN:1710326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618935 {source="MONDO:equivalentTo"} xref: UMLS:C5394542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710326"} is_a: MONDO:0018305 {source="DOID:0070368", source="OMIM:618935"} ! chronic granulomatous disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28672 {source="OMIM:618935"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -498584,6 +496452,7 @@ xref: MEDGEN:1712280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618939 {source="MONDO:equivalentTo"} xref: UMLS:C5394546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712280"} is_a: MONDO:0002457 {source="DOID:0080792", source="OMIM:618939"} ! Treacher-Collins syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20454 {source="OMIM:618939"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -498615,6 +496484,7 @@ xref: MEDGEN:1717772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618948 {source="MONDO:equivalentTo"} xref: UMLS:C5394551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1717772"} is_a: MONDO:0018677 {source="OMIM:618948"} ! visceral heterotaxy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29636 {source="OMIM:618948"} [Term] id: MONDO:0030071 @@ -498628,6 +496498,7 @@ xref: MEDGEN:1710499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618955 {source="MONDO:equivalentTo"} xref: UMLS:C5394552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710499"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6320 {source="OMIM:618955"} [Term] id: MONDO:0030072 @@ -498647,6 +496518,7 @@ xref: MEDGEN:1712195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618959 {source="MONDO:equivalentTo"} xref: UMLS:C5394553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712195"} is_a: MONDO:0100062 {source="DOID:0112222", source="OMIM:618959"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6970 {source="OMIM:618959"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -498669,7 +496541,6 @@ xref: UMLS:C5394554 {source="MEDGEN:1714342", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618960"} ! hereditary disease is_a: MONDO:0100306 {source="https://github.com/monarch-initiative/mondo/issues/5083"} ! disorder of defective peroxisome oxidative status relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0030073 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/119 {source="OMIM:618960"} ! ACOX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5083" xsd:anyURI [Term] @@ -498690,6 +496561,7 @@ xref: OMIM:618961 {source="MONDO:equivalentTo"} xref: Orphanet:589435 {source="MONDO:equivalentTo"} xref: UMLS:C5394555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1714019"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9056 {source="OMIM:618961"} [Term] id: MONDO:0030077 @@ -498705,6 +496577,7 @@ xref: MEDGEN:1709064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618845 {source="MONDO:equivalentTo"} xref: UMLS:C5394250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1709064"} is_a: MONDO:0020831 {source="OMIM:618845"} ! congenital vertebral-cardiac-renal anomalies syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29832 {source="OMIM:618845"} [Term] id: MONDO:0030087 @@ -498782,6 +496655,7 @@ xref: Orphanet:570422 {source="MONDO:equivalentTo"} xref: UMLS:C5394377 {source="MEDGEN:1718159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018116 {source="DOID:0060969", source="OMIM:618881", source="Orphanet:570422"} ! galactosemia is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24063 {source="OMIM:618881"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5835" xsd:anyURI @@ -498832,6 +496706,7 @@ xref: MEDGEN:1718769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618940 {source="MONDO:equivalentTo"} xref: UMLS:C5394548 {source="MONDO:equivalentTo", source="MEDGEN:1718769", source="MONDO:MEDGEN"} is_a: MONDO:0025193 {source="DOID:0081298", source="OMIM:618940"} ! oculopharyngodistal myopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1226 {source="OMIM:618940"} [Term] id: MONDO:0030258 @@ -498850,6 +496725,7 @@ xref: OMIM:619301 {source="MONDO:equivalentTo"} xref: Orphanet:613274 {source="MONDO:equivalentTo"} xref: UMLS:C5543322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778516"} is_a: MONDO:0020135 {source="DOID:0112325", source="OMIM:619301", source="Orphanet:613274"} ! pontocerebellar hypoplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9260 {source="OMIM:619301"} [Term] id: MONDO:0030259 @@ -498865,6 +496741,7 @@ xref: MEDGEN:1781311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619302 {source="MONDO:equivalentTo"} xref: UMLS:C5543326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781311"} is_a: MONDO:0020135 {source="DOID:0112326", source="OMIM:619302"} ! pontocerebellar hypoplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17350 {source="OMIM:619302"} [Term] id: MONDO:0030260 @@ -498896,6 +496773,7 @@ xref: MEDGEN:1785905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619304 {source="MONDO:equivalentTo"} xref: UMLS:C5543331 {source="MEDGEN:1785905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020135 {source="OMIM:619304"} ! pontocerebellar hypoplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17286 {source="OMIM:619304"} [Term] id: MONDO:0030263 @@ -498910,6 +496788,7 @@ xref: MEDGEN:1778269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619310 {source="MONDO:equivalentTo"} xref: UMLS:C5543334 {source="MEDGEN:1778269", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019046 {source="DOID:0070407", source="OMIM:619310"} ! leukodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14121 {source="OMIM:619310"} [Term] id: MONDO:0030266 @@ -498924,6 +496803,7 @@ xref: MEDGEN:1786417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619313 {source="MONDO:equivalentTo"} xref: UMLS:C5543344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1786417"} is_a: MONDO:0021094 {source="OMIM:619313"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18043 {source="OMIM:619313"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI @@ -498955,6 +496835,7 @@ xref: MEDGEN:1779656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619319 {source="MONDO:equivalentTo"} xref: UMLS:C5543365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779656"} is_a: MONDO:0019313 {source="OMIM:619319"} ! lymphatic malformation +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1850 {source="OMIM:619319"} [Term] id: MONDO:0030281 @@ -498981,6 +496862,7 @@ xref: MEDGEN:1780904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619361 {source="MONDO:equivalentTo"} xref: UMLS:C5543508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780904"} is_a: MONDO:0019623 {source="OMIM:619361"} ! hereditary angioedema +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/484 {source="OMIM:619361"} [Term] id: MONDO:0030294 @@ -498991,6 +496873,7 @@ xref: MEDGEN:1780019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619362 {source="MONDO:equivalentTo"} xref: UMLS:C5543513 {source="MEDGEN:1780019", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0025986 {source="OMIM:619362"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6647 {source="OMIM:619362"} [Term] id: MONDO:0030296 @@ -499001,6 +496884,7 @@ xref: MEDGEN:1783600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619365 {source="MONDO:equivalentTo"} xref: UMLS:C5543519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1783600"} is_a: MONDO:0025986 {source="OMIM:619365"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15754 {source="OMIM:619365"} [Term] id: MONDO:0030298 @@ -499013,6 +496897,7 @@ xref: MEDGEN:1780930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619367 {source="MONDO:equivalentTo"} xref: UMLS:C5543528 {source="MEDGEN:1780930", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019623 {source="OMIM:619367"} ! hereditary angioedema +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14178 {source="OMIM:619367"} [Term] id: MONDO:0030300 @@ -499028,6 +496913,7 @@ xref: MEDGEN:1782612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619371 {source="MONDO:equivalentTo"} xref: UMLS:C5543535 {source="MEDGEN:1782612", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016333 {source="OMIM:619371"} ! familial dilated cardiomyopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10351 {source="OMIM:619371"} [Term] id: MONDO:0030302 @@ -499040,6 +496926,7 @@ xref: MEDGEN:1788669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619374 {source="MONDO:equivalentTo"} xref: UMLS:C5543540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788669"} is_a: MONDO:0021094 {source="OMIM:619374"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6529 {source="OMIM:619374"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -499052,6 +496939,7 @@ xref: MEDGEN:1781781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619380 {source="MONDO:equivalentTo"} xref: UMLS:C5543580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781781"} is_a: MONDO:0004983 {source="DOID:0112337", source="OMIM:619380"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26620 {source="OMIM:619380"} [Term] id: MONDO:0030308 @@ -499064,6 +496952,7 @@ xref: MEDGEN:1781752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619381 {source="MONDO:equivalentTo"} xref: UMLS:C5543581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781752"} is_a: MONDO:0021094 {source="OMIM:619381"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11491 {source="OMIM:619381"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -499091,6 +496980,7 @@ xref: MEDGEN:1780479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619386 {source="MONDO:equivalentTo"} xref: UMLS:C5543592 {source="MEDGEN:1780479", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0070425", source="OMIM:619386"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15910 {source="OMIM:619386"} [Term] id: MONDO:0030312 @@ -499107,6 +496997,7 @@ xref: MEDGEN:1788435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619389 {source="MONDO:equivalentTo"} xref: UMLS:C5543595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788435"} is_a: MONDO:0015244 {source="DOID:0070410", source="OMIM:619389"} ! autosomal recessive cerebellar ataxia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12713 {source="OMIM:619389"} [Term] id: MONDO:0030313 @@ -499119,6 +497010,7 @@ xref: OMIM:619396 {source="MONDO:equivalentTo"} xref: UMLS:C5543600 {source="MEDGEN:1782836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0800174 {source="OMIM:619396"} ! encephalitis, acute, infection-induced, susceptibility to relationship: has_characteristic PATO:0000389 ! acute +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32621 {source="OMIM:619396"} relationship: predisposes_towards MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI @@ -499134,6 +497026,7 @@ xref: MEDGEN:1783277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619398 {source="MONDO:equivalentTo"} xref: UMLS:C5444224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1783277"} is_a: MONDO:0005265 {source="OMIM:619398"} ! inflammatory bowel disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15563 {source="OMIM:619398"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -499148,6 +497041,7 @@ xref: MEDGEN:1784862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619401 {source="MONDO:equivalentTo"} xref: UMLS:C5543614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1784862"} is_a: MONDO:0019313 {source="OMIM:619401"} ! lymphatic malformation +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11809 {source="OMIM:619401"} [Term] id: MONDO:0030317 @@ -499161,6 +497055,7 @@ xref: MEDGEN:1779612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619402 {source="MONDO:equivalentTo"} xref: UMLS:C5543616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779612"} is_a: MONDO:0024573 {source="OMIM:619402"} ! familial hypertrophic cardiomyopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26178 {source="OMIM:619402"} [Term] id: MONDO:0030318 @@ -499175,6 +497070,7 @@ xref: MEDGEN:1778853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619405 {source="MONDO:equivalentTo"} xref: UMLS:C5543620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778853"} is_a: MONDO:0015244 {source="DOID:0070411", source="OMIM:619405"} ! autosomal recessive cerebellar ataxia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17663 {source="OMIM:619405"} [Term] id: MONDO:0030323 @@ -499191,6 +497087,7 @@ xref: OMIM:619422 {source="MONDO:equivalentTo"} xref: UMLS:C5543627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1786855"} is_a: MONDO:0015244 {source="DOID:0070412", source="OMIM:619422"} ! autosomal recessive cerebellar ataxia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0030323 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16935 {source="OMIM:619422"} [Term] id: MONDO:0030326 @@ -499227,6 +497124,7 @@ xref: MEDGEN:1780781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619433 {source="MONDO:equivalentTo"} xref: UMLS:C5543638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780781"} is_a: MONDO:0016340 {source="OMIM:619433"} ! familial restrictive cardiomyopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9787 {source="OMIM:619433"} [Term] id: MONDO:0030331 @@ -499240,6 +497138,7 @@ xref: MEDGEN:1794149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619435 {source="MONDO:equivalentTo"} xref: UMLS:C5561939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794149"} is_a: MONDO:0019078 {source="OMIM:619435"} ! Ritscher-Schinzel syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20637 {source="OMIM:619435"} [Term] id: MONDO:0030332 @@ -499253,6 +497152,7 @@ xref: MEDGEN:1780196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619436 {source="MONDO:equivalentTo"} xref: UMLS:C5543646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780196"} is_a: MONDO:0016575 {source="OMIM:619436"} ! primary ciliary dyskinesia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17209 {source="OMIM:619436"} [Term] id: MONDO:0030333 @@ -499266,6 +497166,7 @@ xref: OMIM:619437 {source="MONDO:equivalentTo"} xref: UMLS:C5561940 {source="MEDGEN:1794150", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:619437"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0030333 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13178 {source="OMIM:619437"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -499304,6 +497205,7 @@ xref: MEDGEN:1794154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619451 {source="MONDO:equivalentTo"} xref: UMLS:C5561944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794154"} is_a: MONDO:0100237 {source="OMIM:619451"} ! inherited cutis laxa +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6714 {source="OMIM:619451"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -499315,6 +497217,7 @@ xref: MEDGEN:1794155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619452 {source="MONDO:equivalentTo"} xref: UMLS:C5561945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794155"} is_a: MONDO:0000819 {source="OMIM:619452"} ! anencephaly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29558 {source="OMIM:619452"} [Term] id: MONDO:0030339 @@ -499328,6 +497231,7 @@ xref: MEDGEN:1794279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619453 {source="MONDO:equivalentTo"} xref: UMLS:C5562069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794279"} is_a: MONDO:0016660 {source="OMIM:619453"} ! autosomal recessive primary microcephaly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24286 {source="OMIM:619453"} [Term] id: MONDO:0030341 @@ -499356,6 +497260,7 @@ xref: MEDGEN:1794161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619466 {source="MONDO:equivalentTo"} xref: UMLS:C5561951 {source="MEDGEN:1794161", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="OMIM:619466"} ! primary ciliary dyskinesia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12003 {source="OMIM:619466"} [Term] id: MONDO:0030353 @@ -499384,6 +497289,7 @@ xref: MEDGEN:1794169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619477 {source="MONDO:equivalentTo"} xref: UMLS:C5561959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794169"} is_a: MONDO:0001347 {source="DOID:0060917", source="OMIM:619477"} ! facioscapulohumeral muscular dystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30299 {source="OMIM:619477"} [Term] id: MONDO:0030355 @@ -499427,6 +497333,7 @@ xref: MEDGEN:1794175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619484 {source="MONDO:equivalentTo"} xref: UMLS:C5561965 {source="MEDGEN:1794175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015762 {source="OMIM:619484"} ! progressive familial intrahepatic cholestasis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29955 {source="OMIM:619484"} [Term] id: MONDO:0030361 @@ -499441,6 +497348,7 @@ xref: MEDGEN:1790409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619486 {source="MONDO:equivalentTo"} xref: UMLS:C5551352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1790409"} is_a: MONDO:0018866 {source="OMIM:619486"} ! Aicardi-Goutieres syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30860 {source="OMIM:619486"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -499459,6 +497367,7 @@ xref: UMLS:C5561966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018866 {source="OMIM:619487"} ! Aicardi-Goutieres syndrome is_a: MONDO:0700263 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! RNU7-1-related type 1 interferonopathy relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/34033 {source="OMIM:619487"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI @@ -499485,6 +497394,7 @@ xref: MEDGEN:1785594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619407 {source="MONDO:equivalentTo"} xref: UMLS:C5543622 {source="MONDO:equivalentTo", source="MEDGEN:1785594", source="MONDO:MEDGEN"} is_a: MONDO:0023880 {source="OMIM:619407"} ! WHIM syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6027 {source="OMIM:619407"} [Term] id: MONDO:0030375 @@ -499519,6 +497429,7 @@ xref: MEDGEN:1779083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619423 {source="MONDO:equivalentTo"} xref: UMLS:C5543631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779083"} is_a: MONDO:0000732 {source="DOID:0070426", source="OMIM:619423"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26799 {source="OMIM:619423"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -499529,6 +497440,7 @@ xref: MEDGEN:1794158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619463 {source="MONDO:equivalentTo"} xref: UMLS:C5561948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794158"} is_a: MONDO:0024193 {source="OMIM:619463"} ! portal hypertension, noncirrhotic +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18005 {source="OMIM:619463"} [Term] id: MONDO:0030399 @@ -499557,6 +497469,7 @@ xref: MEDGEN:1794181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619493 {source="MONDO:equivalentTo"} xref: UMLS:C5561971 {source="MEDGEN:1794181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005501 {source="OMIM:619493"} ! congenital disorder of glycosylation type II +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16787 {source="OMIM:619493"} [Term] id: MONDO:0030428 @@ -499566,6 +497479,7 @@ xref: MEDGEN:1794186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619510 {source="MONDO:equivalentTo"} xref: UMLS:C5561976 {source="MEDGEN:1794186", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:619510"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11982 {source="OMIM:619510"} [Term] id: MONDO:0030430 @@ -499576,6 +497490,7 @@ xref: MEDGEN:1794188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619515 {source="MONDO:equivalentTo"} xref: UMLS:C5561978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794188"} is_a: MONDO:0004983 {source="DOID:0112336", source="OMIM:619515"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2941 {source="OMIM:619515"} [Term] id: MONDO:0030433 @@ -499589,6 +497504,7 @@ xref: MEDGEN:1794191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619519 {source="MONDO:equivalentTo"} xref: UMLS:C5561981 {source="MEDGEN:1794191", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015626 {source="OMIM:619519"} ! Charcot-Marie-Tooth disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17601 {source="OMIM:619519"} [Term] id: MONDO:0030434 @@ -499614,6 +497530,7 @@ xref: MEDGEN:1794195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619523 {source="MONDO:equivalentTo"} xref: UMLS:C5561985 {source="MEDGEN:1794195", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020099 {source="OMIM:619523"} ! inherited sideroblastic anemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28913 {source="OMIM:619523"} [Term] id: MONDO:0030437 @@ -499648,6 +497565,7 @@ xref: MEDGEN:1794198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619528 {source="MONDO:equivalentTo"} xref: UMLS:C5561988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794198"} is_a: MONDO:0004983 {source="DOID:0112338", source="OMIM:619528"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21185 {source="OMIM:619528"} [Term] id: MONDO:0030440 @@ -499661,6 +497579,7 @@ xref: MEDGEN:1794199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619531 {source="MONDO:equivalentTo"} xref: UMLS:C5561989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794199"} is_a: MONDO:0015993 {source="DOID:0081448", source="OMIM:619531"} ! cone-rod dystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25295 {source="OMIM:619531"} [Term] id: MONDO:0030448 @@ -499670,6 +497589,7 @@ xref: MEDGEN:1794205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619549 {source="MONDO:equivalentTo"} xref: UMLS:C5561995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794205"} is_a: MONDO:0021094 {source="OMIM:619549"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30227 {source="OMIM:619549"} [Term] id: MONDO:0030449 @@ -499697,6 +497617,7 @@ xref: MEDGEN:1794209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619561 {source="MONDO:equivalentTo"} xref: UMLS:C5561999 {source="MEDGEN:1794209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100062 {source="DOID:0070383", source="OMIM:619561"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2550 {source="OMIM:619561"} [Term] id: MONDO:0030454 @@ -499709,6 +497630,7 @@ xref: MEDGEN:1794210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619562 {source="MONDO:equivalentTo"} xref: UMLS:C5562000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794210"} is_a: MONDO:0018772 {source="OMIM:619562"} ! Joubert syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27344 {source="OMIM:619562"} [Term] id: MONDO:0030455 @@ -499722,6 +497644,7 @@ xref: MEDGEN:1794211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619565 {source="MONDO:equivalentTo"} xref: UMLS:C5562001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794211"} is_a: MONDO:0044807 {source="OMIM:619565"} ! inherited dystonia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1361 {source="OMIM:619565"} [Term] id: MONDO:0030456 @@ -499733,6 +497656,7 @@ xref: MEDGEN:1794212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619566 {source="MONDO:equivalentTo"} xref: UMLS:C5562002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794212"} is_a: MONDO:0015152 {source="OMIM:619566"} ! autosomal recessive limb-girdle muscular dystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6189 {source="OMIM:619566"} [Term] id: MONDO:0030457 @@ -499744,6 +497668,7 @@ xref: MEDGEN:1794280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619573 {source="MONDO:equivalentTo"} xref: UMLS:C5562070 {source="MEDGEN:1794280", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:619573"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2760 {source="OMIM:619573"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -499789,6 +497714,7 @@ xref: MEDGEN:1794220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619593 {source="MONDO:equivalentTo"} xref: UMLS:C5562010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794220"} is_a: MONDO:0005129 {source="OMIM:619593"} ! cataract +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19366 {source="OMIM:619593"} [Term] id: MONDO:0030471 @@ -499801,6 +497727,7 @@ xref: MEDGEN:1794226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619603 {source="MONDO:equivalentTo"} xref: UMLS:C5562016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794226"} is_a: MONDO:0009627 {source="OMIM:619603"} ! Galloway-Mowat syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20356 {source="OMIM:619603"} [Term] id: MONDO:0030472 @@ -499841,6 +497768,7 @@ xref: MEDGEN:1794282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619607 {source="MONDO:equivalentTo"} xref: UMLS:C5562072 {source="MEDGEN:1794282", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018677 {source="OMIM:619607"} ! visceral heterotaxy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16053 {source="OMIM:619607"} [Term] id: MONDO:0030475 @@ -499853,6 +497781,7 @@ xref: MEDGEN:1794229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619608 {source="MONDO:equivalentTo"} xref: UMLS:C5562019 {source="MEDGEN:1794229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018677 {source="OMIM:619608"} ! visceral heterotaxy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17229 {source="OMIM:619608"} [Term] id: MONDO:0030476 @@ -499865,6 +497794,7 @@ xref: MEDGEN:1794230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619609 {source="MONDO:equivalentTo"} xref: UMLS:C5562020 {source="MEDGEN:1794230", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009627 {source="OMIM:619609"} ! Galloway-Mowat syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28905 {source="OMIM:619609"} [Term] id: MONDO:0030480 @@ -499924,6 +497854,7 @@ xref: MEDGEN:1794237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619632 {source="MONDO:equivalentTo"} xref: UMLS:C5562027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794237"} is_a: MONDO:0021094 {source="OMIM:619632"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16422 {source="OMIM:619632"} [Term] id: MONDO:0030486 @@ -499968,6 +497899,7 @@ xref: MEDGEN:1794243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619643 {source="MONDO:equivalentTo"} xref: UMLS:C5562033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794243"} is_a: MONDO:0014769 {source="OMIM:619643"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31704 {source="OMIM:619643"} [Term] id: MONDO:0030491 @@ -499979,6 +497911,7 @@ xref: MEDGEN:1794283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619644 {source="MONDO:equivalentTo"} xref: UMLS:C5562073 {source="MEDGEN:1794283", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:619644", source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29271 {source="OMIM:619644"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -499990,6 +497923,7 @@ xref: MEDGEN:1794244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619645 {source="MONDO:equivalentTo"} xref: UMLS:C5562034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794244"} is_a: MONDO:0004983 {source="DOID:0112357", source="OMIM:619645"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28520 {source="OMIM:619645"} [Term] id: MONDO:0030493 @@ -500000,6 +497934,7 @@ xref: MEDGEN:1794245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619646 {source="MONDO:equivalentTo"} xref: UMLS:C5562035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794245"} is_a: MONDO:0004983 {source="DOID:0112355", source="OMIM:619646"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26675 {source="OMIM:619646"} [Term] id: MONDO:0030498 @@ -500013,6 +497948,7 @@ xref: OMIM:619652 {source="MONDO:equivalentTo"} xref: UMLS:C5562039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794249"} is_a: MONDO:0021094 {source="OMIM:619652"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0030498 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9954 {source="OMIM:619652"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -500054,6 +497990,7 @@ xref: MEDGEN:1794253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619658 {source="MONDO:equivalentTo"} xref: UMLS:C5562043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794253"} is_a: MONDO:0015762 {source="OMIM:619658"} ! progressive familial intrahepatic cholestasis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29255 {source="OMIM:619658"} [Term] id: MONDO:0030505 @@ -500066,6 +498003,7 @@ xref: MEDGEN:1794255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619662 {source="MONDO:equivalentTo"} xref: UMLS:C5562045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794255"} is_a: MONDO:0015762 {source="OMIM:619662"} ! progressive familial intrahepatic cholestasis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21495 {source="OMIM:619662"} [Term] id: MONDO:0030506 @@ -500078,6 +498016,7 @@ xref: MEDGEN:1794256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619665 {source="MONDO:equivalentTo"} xref: UMLS:C5562046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794256"} is_a: MONDO:0009299 {source="OMIM:619665"} ! 46 XX gonadal dysgenesis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28971 {source="OMIM:619665"} [Term] id: MONDO:0030507 @@ -500147,6 +498086,7 @@ xref: MEDGEN:1794284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619688 {source="MONDO:equivalentTo"} xref: UMLS:C5562074 {source="MONDO:equivalentTo", source="MEDGEN:1794284", source="MONDO:MEDGEN"} is_a: MONDO:0019046 {source="DOID:0070397", source="OMIM:619688"} ! leukodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25552 {source="OMIM:619688"} [Term] id: MONDO:0030515 @@ -500157,6 +498097,7 @@ xref: MEDGEN:1794265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619689 {source="MONDO:equivalentTo"} xref: UMLS:C5562055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794265"} is_a: MONDO:0004983 {source="DOID:0112356", source="OMIM:619689"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17976 {source="OMIM:619689"} [Term] id: MONDO:0030517 @@ -500195,6 +498136,7 @@ xref: MEDGEN:1794269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619693 {source="MONDO:equivalentTo"} xref: UMLS:C5562059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794269"} is_a: MONDO:0015977 {source="DOID:0081141", source="OMIM:619693"} ! agammaglobulinemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4927 {source="OMIM:619693"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -500226,6 +498168,7 @@ xref: MEDGEN:1794274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619698 {source="MONDO:equivalentTo"} xref: UMLS:C5562064 {source="MEDGEN:1794274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019249 {source="OMIM:619698"} ! mucopolysaccharidosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25239 {source="OMIM:619698"} [Term] id: MONDO:0030525 @@ -500261,6 +498204,7 @@ xref: MEDGEN:1804175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619705 {source="MONDO:equivalentTo"} xref: UMLS:C5676899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804175"} is_a: MONDO:0021094 {source="OMIM:619705"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29418 {source="OMIM:619705"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -500278,6 +498222,7 @@ xref: OMIM:619707 {source="MONDO:equivalentTo"} xref: UMLS:C5676900 {source="MEDGEN:1806624", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015977 {source="DOID:0081142", source="OMIM:619707"} ! agammaglobulinemia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0030529 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11241 {source="OMIM:619707"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -500289,6 +498234,7 @@ xref: MEDGEN:1794277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619712 {source="MONDO:equivalentTo"} xref: UMLS:C5562067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794277"} is_a: MONDO:0004983 {source="DOID:0112354", source="OMIM:619712"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26532 {source="OMIM:619712"} [Term] id: MONDO:0030533 @@ -500302,6 +498248,7 @@ xref: MEDGEN:1802013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619717 {source="MONDO:equivalentTo"} xref: UMLS:C5676902 {source="MEDGEN:1802013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DOID:0081233", source="OMIM:619717"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15908 {source="OMIM:619717"} [Term] id: MONDO:0030534 @@ -500335,6 +498282,7 @@ xref: MEDGEN:1794173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619482 {source="MONDO:equivalentTo"} xref: UMLS:C5561963 {source="MEDGEN:1794173", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0800031 {source="OMIM:619482"} ! central hypoventilation syndrome, congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13879 {source="OMIM:619482"} [Term] id: MONDO:0030538 @@ -500358,6 +498306,7 @@ xref: MEDGEN:1794174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619483 {source="MONDO:equivalentTo"} xref: UMLS:C5561964 {source="MONDO:equivalentTo", source="MEDGEN:1794174", source="MONDO:MEDGEN"} is_a: MONDO:0800031 {source="OMIM:619483"} ! central hypoventilation syndrome, congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16960 {source="OMIM:619483"} [Term] id: MONDO:0030543 @@ -500370,6 +498319,7 @@ xref: MEDGEN:1812715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619737 {source="MONDO:equivalentTo"} xref: UMLS:C5676912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1812715"} is_a: MONDO:0000732 {source="DOID:0070427", source="OMIM:619737"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19958 {source="OMIM:619737"} [Term] id: MONDO:0030549 @@ -500460,6 +498410,7 @@ xref: MEDGEN:1801103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619720 {source="MONDO:equivalentTo"} xref: UMLS:C5676905 {source="MEDGEN:1801103", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0031200 {source="OMIM:619720"} ! Bryant-Li-Bhoj neurodevelopmental syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4764 {source="OMIM:619720"} [Term] id: MONDO:0030607 @@ -500469,6 +498420,7 @@ xref: MEDGEN:1811435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619721 {source="MONDO:equivalentTo"} xref: UMLS:C5676906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1811435"} is_a: MONDO:0031200 {source="OMIM:619721"} ! Bryant-Li-Bhoj neurodevelopmental syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4765 {source="OMIM:619721"} [Term] id: MONDO:0030608 @@ -500480,6 +498432,7 @@ xref: MEDGEN:1794231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619611 {source="MONDO:equivalentTo"} xref: UMLS:C5562021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794231"} is_a: MONDO:0031199 {source="OMIM:619611"} ! inherited interstitial lung disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10798 {source="OMIM:619611"} [Term] id: MONDO:0030619 @@ -500494,6 +498447,7 @@ xref: OMIM:619614 {source="MONDO:equivalentTo"} xref: UMLS:C5562022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794232"} is_a: MONDO:0019200 {source="OMIM:619614"} ! retinitis pigmentosa relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23302 {source="OMIM:619614"} [Term] id: MONDO:0030625 @@ -500562,6 +498516,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditar is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="OMIM:619735", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13921 {source="OMIM:619735"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -500617,6 +498572,7 @@ xref: MEDGEN:1807988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619745 {source="MONDO:equivalentTo"} xref: UMLS:C5676916 {source="MEDGEN:1807988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018997 {source="OMIM:619745"} ! Noonan syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17722 {source="OMIM:619745"} [Term] id: MONDO:0030680 @@ -500632,6 +498588,7 @@ xref: MEDGEN:1802616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619747 {source="MONDO:equivalentTo"} xref: UMLS:C5676917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802616"} is_a: MONDO:0016333 {source="OMIM:619747"} ! familial dilated cardiomyopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/941 {source="OMIM:619747"} [Term] id: MONDO:0030681 @@ -500658,6 +498615,7 @@ xref: MEDGEN:1810165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619755 {source="MONDO:equivalentTo"} xref: UMLS:C5676921 {source="MEDGEN:1810165", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018555 {source="OMIM:619755"} ! hypogonadotropic hypogonadism +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7818 {source="OMIM:619755"} [Term] id: MONDO:0030689 @@ -500687,6 +498645,7 @@ xref: MEDGEN:1805650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619767 {source="MONDO:equivalentTo"} xref: UMLS:C5676927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805650"} is_a: MONDO:0000148 {source="OMIM:619767"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10289 {source="OMIM:619767"} [Term] id: MONDO:0030692 @@ -500710,6 +498669,7 @@ xref: MEDGEN:1810465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619774 {source="MONDO:equivalentTo"} xref: UMLS:C5676930 {source="MONDO:equivalentTo", source="MEDGEN:1810465", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:619774"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6598 {source="OMIM:619774"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -500725,6 +498685,7 @@ xref: MEDGEN:1809351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619777 {source="MONDO:equivalentTo"} xref: UMLS:C5676932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809351"} is_a: MONDO:0100062 {source="DOID:0070386", source="OMIM:619777"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29046 {source="OMIM:619777"} [Term] id: MONDO:0030696 @@ -500739,6 +498700,7 @@ xref: MEDGEN:1804209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619780 {source="MONDO:equivalentTo"} xref: UMLS:C5676934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804209"} is_a: MONDO:0018158 {source="DOID:0070451", source="OMIM:619780"} ! mitochondrial DNA depletion syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6600 {source="OMIM:619780"} [Term] id: MONDO:0030697 @@ -500749,6 +498711,7 @@ xref: MEDGEN:1806812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619781 {source="MONDO:equivalentTo"} xref: UMLS:C5676935 {source="MEDGEN:1806812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001384 {source="OMIM:619781"} ! myopia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13869 {source="OMIM:619781"} [Term] id: MONDO:0030700 @@ -500879,6 +498842,7 @@ xref: MEDGEN:1800829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619789 {source="MONDO:equivalentTo"} xref: UMLS:C5676940 {source="MEDGEN:1800829", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019403 {source="OMIM:619789"} ! congenital dyserythropoietic anemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9804 {source="OMIM:619789"} [Term] id: MONDO:0030712 @@ -500893,6 +498857,7 @@ xref: MEDGEN:1809981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619790 {source="MONDO:equivalentTo"} xref: UMLS:C5676941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809981"} is_a: MONDO:0025193 {source="DOID:0081300", source="OMIM:619790"} ! oculopharyngodistal myopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26814 {source="OMIM:619790"} [Term] id: MONDO:0030714 @@ -500905,6 +498870,7 @@ xref: MEDGEN:1801631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619795 {source="MONDO:equivalentTo"} xref: UMLS:C5676943 {source="MEDGEN:1801631", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019019 {source="OMIM:619795"} ! osteogenesis imperfecta +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26185 {source="OMIM:619795"} [Term] id: MONDO:0030716 @@ -500915,6 +498881,7 @@ xref: MEDGEN:1806298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619799 {source="MONDO:equivalentTo"} xref: UMLS:C5676945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1806298"} is_a: MONDO:0004983 {source="OMIM:619799"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15662 {source="OMIM:619799"} [Term] id: MONDO:0030717 @@ -500928,6 +498895,7 @@ xref: OMIM:619802 {source="MONDO:equivalentTo"} xref: UMLS:C5676946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802936"} is_a: MONDO:0021094 {source="OMIM:619802"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0030717 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8978 {source="OMIM:619802"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -500939,6 +498907,7 @@ xref: MEDGEN:1804099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619803 {source="MONDO:equivalentTo"} xref: UMLS:C5676947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804099"} is_a: MONDO:0004983 {source="OMIM:619803"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30723 {source="OMIM:619803"} [Term] id: MONDO:0030719 @@ -500983,6 +498952,7 @@ xref: MEDGEN:1812032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619805 {source="MONDO:equivalentTo"} xref: UMLS:C5676949 {source="MEDGEN:1812032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="OMIM:619805"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14438 {source="OMIM:619805"} [Term] id: MONDO:0030723 @@ -501046,6 +499016,7 @@ xref: MEDGEN:1810348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619758 {source="MONDO:equivalentTo"} xref: UMLS:C5676922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1810348"} is_a: MONDO:0031400 {source="OMIM:619758"} ! Tessadori-Van-Haaften neurodevelopmental syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4787 {source="OMIM:619758"} [Term] id: MONDO:0030730 @@ -501056,6 +499027,7 @@ xref: MEDGEN:1803228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619759 {source="MONDO:equivalentTo"} xref: UMLS:C5676923 {source="MEDGEN:1803228", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0031400 {source="OMIM:619759"} ! Tessadori-Van-Haaften neurodevelopmental syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4785 {source="OMIM:619759"} [Term] id: MONDO:0030731 @@ -501069,6 +499041,7 @@ xref: MEDGEN:1802657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619825 {source="MONDO:equivalentTo"} xref: UMLS:C5676959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802657"} is_a: MONDO:0019625 {source="OMIM:619825"} ! familial thoracic aortic aneurysm and aortic dissection +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25835 {source="OMIM:619825"} [Term] id: MONDO:0030732 @@ -501079,6 +499052,7 @@ xref: MEDGEN:1811285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619826 {source="MONDO:equivalentTo"} xref: UMLS:C5676960 {source="MEDGEN:1811285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="OMIM:619826"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18869 {source="OMIM:619826"} [Term] id: MONDO:0030733 @@ -501089,6 +499063,7 @@ xref: MEDGEN:1809945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619828 {source="MONDO:equivalentTo"} xref: UMLS:C5676962 {source="MEDGEN:1809945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="OMIM:619828"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8807 {source="OMIM:619828"} [Term] id: MONDO:0030736 @@ -501233,6 +499208,7 @@ xref: MEDGEN:1809253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619775 {source="MONDO:equivalentTo"} xref: UMLS:C5676931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809253"} is_a: MONDO:0031376 {source="OMIM:619775"} ! congenital disorder of deglycosylation +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6827 {source="OMIM:619775"} [Term] id: MONDO:0030781 @@ -501262,6 +499238,7 @@ xref: MEDGEN:1808159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619827 {source="MONDO:equivalentTo"} xref: UMLS:C5676961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808159"} is_a: MONDO:0019502 {source="DOID:0081234", source="OMIM:619827"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16491 {source="OMIM:619827"} [Term] id: MONDO:0030787 @@ -501306,6 +499283,7 @@ xref: MEDGEN:1801342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619846 {source="MONDO:equivalentTo"} xref: UMLS:C5676971 {source="MEDGEN:1801342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:619846"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15879 {source="OMIM:619846"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -501320,6 +499298,7 @@ xref: MEDGEN:1809292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619849 {source="MONDO:equivalentTo"} xref: UMLS:C5676973 {source="MEDGEN:1809292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015762 {source="OMIM:619849"} ! progressive familial intrahepatic cholestasis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20758 {source="OMIM:619849"} [Term] id: MONDO:0030801 @@ -501384,6 +499363,7 @@ xref: MEDGEN:1810668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619872 {source="MONDO:equivalentTo"} xref: UMLS:C5676983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1810668"} is_a: MONDO:0021094 {source="OMIM:619872"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15763 {source="OMIM:619872"} [Term] id: MONDO:0030815 @@ -501407,6 +499387,7 @@ xref: MEDGEN:1801127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619878 {source="MONDO:equivalentTo"} xref: UMLS:C5676988 {source="MEDGEN:1801127", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="OMIM:619878"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7201 {source="OMIM:619878"} [Term] id: MONDO:0030819 @@ -501419,6 +499400,7 @@ xref: MEDGEN:1809650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619879 {source="MONDO:equivalentTo"} xref: UMLS:C5676989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809650"} is_a: MONDO:0018921 {source="OMIM:619879"} ! Meckel syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20652 {source="OMIM:619879"} [Term] id: MONDO:0030822 @@ -501432,6 +499414,7 @@ xref: MEDGEN:1808595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619887 {source="MONDO:equivalentTo"} xref: UMLS:C5676993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808595"} is_a: MONDO:0018470 {source="OMIM:619887"} ! renal agenesis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4243 {source="OMIM:619887"} [Term] id: MONDO:0030827 @@ -501446,7 +499429,8 @@ xref: OMIM:619840 {source="MONDO:equivalentTo"} xref: UMLS:C5676968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802965"} is_a: MONDO:0031447 {source="OMIM:619840"} ! macrothrombocytopenia, isolated intersection_of: MONDO:0015372 ! autosomal dominant macrothrombocytopenia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12410 ! TUBA8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12410 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12410 {source="OMIM:619840"} [Term] id: MONDO:0030831 @@ -501482,7 +499466,6 @@ xref: UMLS:C5436788 {source="MEDGEN:1764121", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:619092"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: has_characteristic HP:0000007 {source="OMIM:619092"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7643 {source="OMIM:619092"} ! NARS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5167" xsd:anyURI @@ -501497,6 +499480,7 @@ xref: OMIM:619855 {source="MONDO:equivalentTo"} xref: UMLS:C5676976 {source="MEDGEN:1812066", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0031432 {source="OMIM:619855"} ! thyroid hormone metabolism, abnormal relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2883 {source="OMIM:619855"} [Term] id: MONDO:0030840 @@ -501563,6 +499547,7 @@ xref: MEDGEN:1761843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619108 {source="MONDO:equivalentTo"} xref: UMLS:C5436823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1761843"} is_a: MONDO:0004983 {source="DOID:0112176", source="OMIM:619108"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25183 {source="OMIM:619108"} [Term] id: MONDO:0030847 @@ -501579,6 +499564,7 @@ xref: MEDGEN:1722257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619110 {source="MONDO:equivalentTo"} xref: UMLS:C5436834 {source="MEDGEN:1722257", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019942 {source="OMIM:619110"} ! distal arthrogryposis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29824 {source="OMIM:619110"} [Term] id: MONDO:0030849 @@ -501591,6 +499577,7 @@ xref: MEDGEN:1754849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619099 {source="MONDO:equivalentTo"} xref: UMLS:C5436813 {source="MEDGEN:1754849", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10663 {source="OMIM:619099"} [Term] id: MONDO:0030852 @@ -501602,6 +499589,7 @@ xref: OMIM:619103 {source="MONDO:equivalentTo"} xref: UMLS:C5436821 {source="MEDGEN:1777442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5275 {source="OMIM:619103"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -501651,6 +499639,7 @@ xref: MEDGEN:1761611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619124 {source="MONDO:equivalentTo"} xref: UMLS:C5436853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1761611"} is_a: MONDO:0100062 {source="DOID:0112223", source="OMIM:619124"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4092 {source="OMIM:619124"} [Term] id: MONDO:0030858 @@ -501713,6 +499702,7 @@ xref: MEDGEN:1723598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619131 {source="MONDO:equivalentTo"} xref: UMLS:C5436875 {source="MONDO:equivalentTo", source="MEDGEN:1723598", source="MONDO:MEDGEN"} is_a: MONDO:0019019 {source="DOID:0112201", source="OMIM:619131"} ! osteogenesis imperfecta +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6305 {source="OMIM:619131"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -501743,6 +499733,7 @@ xref: MEDGEN:1744611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619135 {source="MONDO:equivalentTo"} xref: UMLS:C5436883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1744611"} is_a: MONDO:0019078 {source="OMIM:619135"} ! Ritscher-Schinzel syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24641 {source="OMIM:619135"} [Term] id: MONDO:0030866 @@ -501757,6 +499748,7 @@ xref: UMLS:C5436848 {source="MEDGEN:1750805", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0030866 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10852 {source="OMIM:619121"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -501776,6 +499768,7 @@ xref: OMIM:619130 {source="MONDO:equivalentTo"} xref: UMLS:C5436874 {source="MEDGEN:1768257", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100241 {source="OMIM:619130"} ! inherited thrombocytopenia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0030867 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14283 {source="OMIM:619130"} [Term] id: MONDO:0030868 @@ -501788,6 +499781,7 @@ xref: MEDGEN:1742668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619144 {source="MONDO:equivalentTo"} xref: UMLS:C5436887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1742668"} is_a: MONDO:0004983 {source="DOID:0112271", source="OMIM:619144"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26676 {source="OMIM:619144"} [Term] id: MONDO:0030869 @@ -501826,6 +499820,7 @@ xref: MEDGEN:1746640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619122 {source="MONDO:equivalentTo"} xref: UMLS:C5436851 {source="MEDGEN:1746640", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4216 {source="OMIM:619122"} [Term] id: MONDO:0030872 @@ -501852,6 +499847,7 @@ xref: MEDGEN:1721861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619123 {source="MONDO:equivalentTo"} xref: UMLS:C5436852 {source="MEDGEN:1721861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28295 {source="OMIM:619123"} [Term] id: MONDO:0030875 @@ -501869,6 +499865,7 @@ xref: UMLS:C5436884 {source="MEDGEN:1756201", source="MONDO:equivalentTo", sourc is_a: MONDO:0005144 {source="OMIM:619141"} ! familial amyotrophic lateral sclerosis is_a: MONDO:0030923 {source="OMIM:619141"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0030875 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1591 {source="OMIM:619141"} [Term] id: MONDO:0030876 @@ -501890,6 +499887,7 @@ xref: MEDGEN:1731253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619143 {source="MONDO:equivalentTo"} xref: UMLS:C5436886 {source="MEDGEN:1731253", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0031386 {source="OMIM:619143"} ! cardioacrofacial dysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9381 {source="OMIM:619143"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -501903,6 +499901,7 @@ xref: MEDGEN:1725501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619125 {source="MONDO:equivalentTo"} xref: UMLS:C5436856 {source="MONDO:equivalentTo", source="MEDGEN:1725501", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30511 {source="OMIM:619125"} [Term] id: MONDO:0030880 @@ -501918,6 +499917,7 @@ xref: OMIM:619127 {source="MONDO:equivalentTo"} xref: Orphanet:647667 {source="MONDO:equivalentTo"} xref: UMLS:C5436867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1741713"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7506 {source="OMIM:619127"} [Term] id: MONDO:0030881 @@ -501932,6 +499932,7 @@ xref: MEDGEN:1812769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619881 {source="MONDO:equivalentTo"} xref: UMLS:C5676991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1812769"} is_a: MONDO:0100062 {source="DOID:0070388", source="OMIM:619881"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18044 {source="OMIM:619881"} [Term] id: MONDO:0030883 @@ -501975,6 +499976,7 @@ xref: MEDGEN:1811868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619895 {source="MONDO:equivalentTo"} xref: UMLS:C5676994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1811868"} is_a: MONDO:0016296 {source="OMIM:619895"} ! holoprosencephaly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29185 {source="OMIM:619895"} [Term] id: MONDO:0030887 @@ -501990,6 +499992,7 @@ xref: MEDGEN:1801983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619897 {source="MONDO:equivalentTo"} xref: UMLS:C5676995 {source="MEDGEN:1801983", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016333 {source="OMIM:619897"} ! familial dilated cardiomyopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6648 {source="OMIM:619897"} [Term] id: MONDO:0030890 @@ -502014,6 +500017,7 @@ xref: MEDGEN:1812470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619910 {source="MONDO:equivalentTo"} xref: UMLS:C5677000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1812470"} is_a: MONDO:0100172 {source="OMIM:619910"} ! intellectual disability, autosomal dominant +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/814 {source="OMIM:619910"} [Term] id: MONDO:0030893 @@ -502045,6 +500049,7 @@ xref: OMIM:619151 {source="MONDO:equivalentTo"} xref: Orphanet:611216 {source="MONDO:equivalentTo"} xref: UMLS:C5436906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1754257"} is_a: MONDO:0000159 {source="OMIM:619151"} ! bone marrow failure syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/253 {source="OMIM:619151"} [Term] id: MONDO:0030895 @@ -502059,6 +500064,7 @@ xref: MEDGEN:1745920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619155 {source="MONDO:equivalentTo"} xref: UMLS:C5436909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1745920"} is_a: MONDO:0002350 {source="DOID:0112268", source="OMIM:619155"} ! familial nephrotic syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16859 {source="OMIM:619155"} [Term] id: MONDO:0030896 @@ -502082,6 +500088,7 @@ xref: MEDGEN:1762595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619149 {source="MONDO:equivalentTo"} xref: UMLS:C5436892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1762595"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3263 {source="OMIM:619149"} [Term] id: MONDO:0030898 @@ -502103,6 +500110,7 @@ xref: Orphanet:647804 {source="MONDO:equivalentTo"} xref: UMLS:C5543004 {source="MEDGEN:1781281", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:619164"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0030898 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29002 {source="OMIM:619164"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -502122,6 +500130,7 @@ xref: OMIM:619165 {source="MONDO:equivalentTo"} xref: Orphanet:597733 {source="MONDO:equivalentTo"} xref: UMLS:C5436929 {source="MEDGEN:1754121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018910 {source="OMIM:619165", source="Orphanet:597733"} ! oculocutaneous albinism +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2709 {source="OMIM:619165"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -502133,6 +500142,7 @@ xref: MEDGEN:1727046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619150 {source="MONDO:equivalentTo"} xref: UMLS:C5436894 {source="MEDGEN:1727046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8777 {source="OMIM:619150"} [Term] id: MONDO:0030902 @@ -502147,6 +500157,7 @@ xref: MEDGEN:1773965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619170 {source="MONDO:equivalentTo"} xref: UMLS:C5436935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1773965"} is_a: MONDO:0100223 {source="OMIM:619170"} ! mitochondrial complex I deficiency, nuclear type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7706 {source="OMIM:619170"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -502162,6 +500173,7 @@ xref: MEDGEN:1727728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619172 {source="MONDO:equivalentTo"} xref: UMLS:C5436936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1727728"} is_a: MONDO:0019312 {source="OMIM:619172"} ! Hermansky-Pudlak syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18561 {source="OMIM:619172"} [Term] id: MONDO:0030905 @@ -502176,6 +500188,7 @@ xref: MEDGEN:1747842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619174 {source="MONDO:equivalentTo"} xref: UMLS:C5436937 {source="MONDO:equivalentTo", source="MEDGEN:1747842", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="OMIM:619174"} ! hearing loss, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33939 {source="OMIM:619174"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -502211,6 +500224,7 @@ xref: OMIM:300997 {source="DOID:0080240", source="MONDO:equivalentTo"} xref: UMLS:C4478379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1389156"} is_a: MONDO:0019181 {source="DOID:0080240", source="OMIM:300997"} ! non-syndromic X-linked intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0030907 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8127 {source="OMIM:300997"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -502257,6 +500271,7 @@ xref: OMIM:301008 {source="DOID:0080242", source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="MONDO:relatedTo", source="OMIM:301008"} xref: UMLS:C4538788 {source="MEDGEN:1624740", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020119 {source="DOID:0080242", source="OMIM:301008", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19701 {source="OMIM:301008"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -502278,6 +500293,7 @@ xref: OMIM:617600 {source="MONDO:equivalentTo", source="DOID:0080236"} xref: UMLS:C4539848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1616472"} is_a: MONDO:0015802 {source="DOID:0080236", source="OMIM:617600"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14214 {source="OMIM:617600"} [Term] id: MONDO:0030911 @@ -502296,6 +500312,7 @@ xref: OMIM:617601 {source="MONDO:equivalentTo", source="DOID:0080237"} xref: UMLS:C4539851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1618560"} is_a: MONDO:0015802 {source="DOID:0080237", source="OMIM:617601"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6299 {source="OMIM:617601"} [Term] id: MONDO:0030912 @@ -502323,7 +500340,7 @@ is_a: MONDO:0015159 {source="Orphanet:502434"} ! multiple congenital anomalies/d is_a: MONDO:0015802 {source="DOID:0080238", source="OMIM:617635"} ! autosomal dominant non-syndromic intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:502434", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11354 {source="MONDO:0044716"} ! STAG1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11354 {source="OMIM:617635"} [Term] id: MONDO:0030913 @@ -502351,6 +500368,7 @@ is_a: MONDO:0015159 {source="Orphanet:500159"} ! multiple congenital anomalies/d is_a: MONDO:0100172 {source="OMIM:617751"} ! intellectual disability, autosomal dominant relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0080235", source="OMIM:617751", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9801 {source="OMIM:617751"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -502382,6 +500400,7 @@ xref: UMLS:C2931130 {source="MONDO:equivalentTo", source="MEDGEN:443983", source is_a: MONDO:0003847 {source="MESH:C536208/inferred"} ! hereditary disease is_a: MONDO:0015802 {source="DOID:0080234", source="OMIM:617752"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 {source="OMIM:617752"} ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12306 {source="OMIM:617752"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9994/clark-baraitser-syndrome" xsd:anyURI {source="GARD:0009994"} [Term] @@ -502402,6 +500421,7 @@ xref: MEDGEN:1622296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617773 {source="MONDO:equivalentTo", source="DOID:0080239"} xref: UMLS:C4540424 {source="MEDGEN:1622296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="DOID:0080239", source="OMIM:617773"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23625 {source="OMIM:617773"} [Term] id: MONDO:0030916 @@ -502423,6 +500443,7 @@ xref: OMIM:617787 {source="DOID:0080233", source="MONDO:equivalentTo"} xref: UMLS:C4540470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1616989"} is_a: MONDO:0015802 {source="DOID:0080233", source="OMIM:617787"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30782 {source="OMIM:617787"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -502443,6 +500464,7 @@ xref: OMIM:617788 {source="DOID:0080232", source="MONDO:equivalentTo"} xref: UMLS:C4540474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1625009"} is_a: MONDO:0015802 {source="DOID:0080232", source="OMIM:617788"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24283 {source="OMIM:617788"} [Term] id: MONDO:0030918 @@ -502464,6 +500486,7 @@ xref: OMIM:617796 {source="DOID:0080231", source="MONDO:equivalentTo"} xref: UMLS:C4540478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1615839"} is_a: MONDO:0015802 {source="DOID:0080231", source="OMIM:617796"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19088 {source="OMIM:617796"} [Term] id: MONDO:0030919 @@ -502506,6 +500529,7 @@ xref: Orphanet:178469 {source="OMIM:617799"} xref: UMLS:C4540484 {source="MEDGEN:1614787", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015802 {source="DOID:0080230", source="OMIM:617799"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1461 {source="OMIM:617799"} [Term] id: MONDO:0030921 @@ -502551,6 +500575,7 @@ xref: Orphanet:442835 {source="MONDO:relatedTo", source="OMIM:617854"} xref: UMLS:C4693389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638835"} is_a: MONDO:0015802 {source="DOID:0080226", source="OMIM:617854"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2092 {source="OMIM:617854"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7248" xsd:anyURI [Term] @@ -502594,6 +500619,7 @@ xref: MEDGEN:1766720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619176 {source="MONDO:equivalentTo"} xref: UMLS:C5436938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1766720"} is_a: MONDO:0014769 {source="OMIM:619176"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25065 {source="OMIM:619176"} [Term] id: MONDO:0030926 @@ -502606,6 +500632,7 @@ xref: MEDGEN:1780365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619177 {source="MONDO:equivalentTo"} xref: UMLS:C5543033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780365"} is_a: MONDO:0004983 {source="DOID:0112273", source="OMIM:619177"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24010 {source="OMIM:619177"} [Term] id: MONDO:0030927 @@ -502667,6 +500694,7 @@ xref: OMIM:619157 {source="MONDO:equivalentTo"} xref: UMLS:C5436914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1737097"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7648 {source="OMIM:619157"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -502683,6 +500711,7 @@ xref: MEDGEN:1780127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619183 {source="MONDO:equivalentTo"} xref: UMLS:C5543053 {source="MEDGEN:1780127", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009726 {source="DOID:0060915", source="OMIM:619183"} ! proteosome-associated autoinflammatory syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24929 {source="OMIM:619183"} [Term] id: MONDO:0030933 @@ -502697,6 +500726,7 @@ xref: MEDGEN:1786742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619185 {source="MONDO:equivalentTo"} xref: UMLS:C5543064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1786742"} is_a: MONDO:0018772 {source="OMIM:619185"} ! Joubert syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19959 {source="OMIM:619185"} [Term] id: MONDO:0030934 @@ -502711,6 +500741,7 @@ xref: MEDGEN:1784554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619188 {source="MONDO:equivalentTo"} xref: UMLS:C5543067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1784554"} is_a: MONDO:0100172 {source="OMIM:619188"} ! intellectual disability, autosomal dominant +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18410 {source="OMIM:619188"} [Term] id: MONDO:0030935 @@ -502725,6 +500756,7 @@ xref: MEDGEN:1742371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619166 {source="MONDO:equivalentTo"} xref: UMLS:C5436933 {source="MEDGEN:1742371", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0031230 {source="OMIM:619166"} ! mitochondrial complex II deficiency, nuclear type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33867 {source="OMIM:619166"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -502739,6 +500771,7 @@ xref: MEDGEN:1778162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619191 {source="MONDO:equivalentTo"} xref: UMLS:C5543069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778162"} is_a: MONDO:0020074 {source="OMIM:619191"} ! progressive myoclonus epilepsy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25807 {source="OMIM:619191"} [Term] id: MONDO:0030937 @@ -502815,6 +500848,7 @@ xref: OMIM:619173 {source="MONDO:equivalentTo"} xref: Orphanet:610573 {source="MONDO:equivalentTo"} xref: UMLS:C5543020 {source="MEDGEN:1781967", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2024 {source="OMIM:619173"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -502828,6 +500862,7 @@ xref: MEDGEN:1782253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619184 {source="MONDO:equivalentTo"} xref: UMLS:C5543057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1782253"} is_a: MONDO:0031439 {source="OMIM:619184"} ! short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13655 {source="OMIM:619184"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -502843,6 +500878,7 @@ xref: MEDGEN:1809962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619913 {source="MONDO:equivalentTo"} xref: UMLS:C5677002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809962"} is_a: MONDO:0100062 {source="DOID:0070389", source="OMIM:619913"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6234 {source="OMIM:619913"} [Term] id: MONDO:0030958 @@ -502886,6 +500922,7 @@ xref: MEDGEN:1787011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619201 {source="MONDO:equivalentTo"} xref: UMLS:C5543092 {source="MEDGEN:1787011", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002350 {source="DOID:0112266", source="OMIM:619201"} ! familial nephrotic syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15734 {source="OMIM:619201"} [Term] id: MONDO:0030963 @@ -502896,6 +500933,7 @@ xref: MEDGEN:1788485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619189 {source="MONDO:equivalentTo"} xref: UMLS:C5543068 {source="MEDGEN:1788485", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20344 {source="OMIM:619189"} [Term] id: MONDO:0030964 @@ -502924,6 +500962,7 @@ xref: MEDGEN:1778926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619194 {source="MONDO:equivalentTo"} xref: UMLS:C5543070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778926"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5193 {source="OMIM:619194"} [Term] id: MONDO:0030967 @@ -502970,6 +501009,7 @@ xref: MEDGEN:1804672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619935 {source="MONDO:equivalentTo"} xref: UMLS:C5677009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804672"} is_a: MONDO:0021094 {source="OMIM:619935"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5432 {source="OMIM:619935"} [Term] id: MONDO:0030971 @@ -502981,6 +501021,7 @@ xref: MEDGEN:1785772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619220 {source="MONDO:equivalentTo"} xref: UMLS:C5543159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1785772"} is_a: MONDO:0021094 {source="OMIM:619220"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12016 {source="OMIM:619220"} [Term] id: MONDO:0030972 @@ -503001,6 +501042,7 @@ xref: MEDGEN:1788976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619223 {source="MONDO:equivalentTo"} xref: UMLS:C5543173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788976"} is_a: MONDO:0021094 {source="OMIM:619223"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29619 {source="OMIM:619223"} [Term] id: MONDO:0030974 @@ -503038,6 +501080,7 @@ xref: MEDGEN:1789067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619215 {source="MONDO:equivalentTo"} xref: UMLS:C5543116 {source="MEDGEN:1789067", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23692 {source="OMIM:619215"} [Term] id: MONDO:0030977 @@ -503053,6 +501096,7 @@ xref: OMIM:619216 {source="MONDO:equivalentTo"} xref: UMLS:C5543119 {source="MEDGEN:1786836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015363 {source="DOID:0081426", source="OMIM:619216"} ! neuronopathy, distal hereditary motor, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30910 {source="OMIM:619216"} [Term] id: MONDO:0030978 @@ -503081,6 +501125,7 @@ xref: OMIM:619218 {source="MONDO:equivalentTo"} xref: UMLS:C5543142 {source="MEDGEN:1782954", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:1040032 {source="https://orcid.org/0000-0001-9310-0163"} ! EN1-related dorsoventral syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3342 {source="OMIM:619218"} [Term] id: MONDO:0030981 @@ -503115,6 +501160,7 @@ xref: UMLS:C5543168 {source="MEDGEN:1780603", source="MONDO:equivalentTo", sourc is_a: MONDO:0019052 {source="OMIM:619221"} ! inborn errors of metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0070224 ! sulfide:quinone oxidoreductase activity +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20390 {source="OMIM:619221"} [Term] id: MONDO:0030983 @@ -503137,6 +501183,7 @@ xref: MEDGEN:1804291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619949 {source="MONDO:equivalentTo"} xref: UMLS:C5677014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804291"} is_a: MONDO:0004983 {source="OMIM:619949"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26535 {source="OMIM:619949"} [Term] id: MONDO:0030985 @@ -503151,6 +501198,7 @@ xref: MEDGEN:1779702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619245 {source="MONDO:equivalentTo"} xref: UMLS:C5543229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779702"} is_a: MONDO:0019852 {source="OMIM:619245"} ! inherited primary ovarian failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5226 {source="OMIM:619245"} [Term] id: MONDO:0030986 @@ -503160,6 +501208,7 @@ xref: MEDGEN:1785588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619226 {source="MONDO:equivalentTo"} xref: UMLS:C5543184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1785588"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3050 {source="OMIM:619226"} [Term] id: MONDO:0030987 @@ -503170,6 +501219,7 @@ xref: MEDGEN:1788069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619227 {source="MONDO:equivalentTo"} xref: UMLS:C5543189 {source="MONDO:equivalentTo", source="MEDGEN:1788069", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16461 {source="OMIM:619227"} [Term] id: MONDO:0030988 @@ -503190,6 +501240,7 @@ xref: MEDGEN:1787013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619258 {source="MONDO:equivalentTo"} xref: UMLS:C5543253 {source="MONDO:equivalentTo", source="MEDGEN:1787013", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="DOID:0112279", source="OMIM:619258"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28494 {source="OMIM:619258"} [Term] id: MONDO:0030990 @@ -503209,6 +501260,7 @@ xref: MEDGEN:1780260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619232 {source="MONDO:equivalentTo"} xref: UMLS:C5543203 {source="MEDGEN:1780260", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/932 {source="OMIM:619232"} [Term] id: MONDO:0030992 @@ -503218,6 +501270,7 @@ xref: MEDGEN:1787876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619234 {source="MONDO:equivalentTo"} xref: UMLS:C5543206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787876"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28466 {source="OMIM:619234"} [Term] id: MONDO:0030993 @@ -503228,6 +501281,7 @@ xref: MEDGEN:1824083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619950 {source="MONDO:equivalentTo"} xref: UMLS:C5774310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824083"} is_a: MONDO:0031400 {source="OMIM:619950"} ! Tessadori-Van-Haaften neurodevelopmental syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4790 {source="OMIM:619950"} [Term] id: MONDO:0030994 @@ -503257,6 +501311,7 @@ xref: MEDGEN:1787991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619243 {source="MONDO:equivalentTo"} xref: UMLS:C5543226 {source="MEDGEN:1787991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29190 {source="OMIM:619243"} [Term] id: MONDO:0030996 @@ -503289,6 +501344,7 @@ xref: MEDGEN:1783339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619272 {source="MONDO:equivalentTo"} xref: UMLS:C5543281 {source="MEDGEN:1783339", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100223 {source="OMIM:619272"} ! mitochondrial complex I deficiency, nuclear type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7692 {source="OMIM:619272"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -503319,6 +501375,7 @@ xref: OMIM:619244 {source="MONDO:equivalentTo"} xref: UMLS:C5543228 {source="MEDGEN:1786662", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19274 {source="OMIM:619244"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -503330,6 +501387,7 @@ xref: MEDGEN:1804234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619951 {source="MONDO:equivalentTo"} xref: UMLS:C5677016 {source="MEDGEN:1804234", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0031400 {source="OMIM:619951"} ! Tessadori-Van-Haaften neurodevelopmental syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4793 {source="OMIM:619951"} [Term] id: MONDO:0031001 @@ -503350,6 +501408,7 @@ xref: MEDGEN:1778777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619255 {source="MONDO:equivalentTo"} xref: UMLS:C5543241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778777"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2231 {source="OMIM:619255"} [Term] id: MONDO:0031003 @@ -503364,6 +501423,7 @@ xref: MEDGEN:1780531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619256 {source="MONDO:equivalentTo"} xref: UMLS:C5543243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780531"} is_a: MONDO:0100327 {source="OMIM:619256"} ! hypercholanemia, familial +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10905 {source="OMIM:619256"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -503426,6 +501486,7 @@ xref: OMIM:619263 {source="MONDO:equivalentTo"} xref: Orphanet:567548 {source="MONDO:equivalentTo"} xref: UMLS:C5543267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781068"} is_a: MONDO:0005377 {source="OMIM:619263"} ! nephrotic syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18143 {source="OMIM:619263"} [Term] id: MONDO:0031009 @@ -503455,6 +501516,7 @@ xref: MEDGEN:1782909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619269 {source="MONDO:equivalentTo"} xref: UMLS:C5543275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1782909"} is_a: MONDO:0031169 {source="OMIM:619269"} ! odontochondrodysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24008 {source="OMIM:619269"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -503469,6 +501531,7 @@ xref: OMIM:619264 {source="MONDO:equivalentTo"} xref: UMLS:C5543268 {source="MONDO:equivalentTo", source="MEDGEN:1784197", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27609 {source="OMIM:619264"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -503537,6 +501600,7 @@ xref: Orphanet:631088 {source="MONDO:equivalentTo"} xref: UMLS:C5774182 {source="MEDGEN:1813069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0019064 {source="DOID:0070456", source="OMIM:619966", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23787 {source="OMIM:619966"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -503568,6 +501632,7 @@ xref: MEDGEN:1823963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619983 {source="MONDO:equivalentTo"} xref: UMLS:C5774190 {source="MEDGEN:1823963", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100062 {source="DOID:0070391", source="OMIM:619983"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15736 {source="OMIM:619983"} [Term] id: MONDO:0031030 @@ -503661,6 +501726,7 @@ xref: MEDGEN:1823976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620014 {source="MONDO:equivalentTo"} xref: UMLS:C5774203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823976"} is_a: MONDO:0019313 {source="OMIM:620014"} ! lymphatic malformation +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28870 {source="OMIM:620014"} [Term] id: MONDO:0031044 @@ -503674,6 +501740,7 @@ xref: MEDGEN:1823977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620015 {source="MONDO:equivalentTo"} xref: UMLS:C5774204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823977"} is_a: MONDO:0015609 {source="OMIM:620015"} ! advanced sleep phase syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11813 {source="OMIM:620015"} [Term] id: MONDO:0031045 @@ -503727,6 +501794,7 @@ xref: MEDGEN:1823987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620032 {source="MONDO:equivalentTo"} xref: UMLS:C5774214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823987"} is_a: MONDO:0016575 {source="OMIM:620032"} ! primary ciliary dyskinesia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7853 {source="OMIM:620032"} [Term] id: MONDO:0031055 @@ -503741,6 +501809,7 @@ xref: MEDGEN:1823988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620033 {source="MONDO:equivalentTo"} xref: UMLS:C5774215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823988"} is_a: MONDO:0100062 {source="DOID:0070393", source="OMIM:620033"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15751 {source="OMIM:620033"} [Term] id: MONDO:0031057 @@ -503754,6 +501823,7 @@ xref: MEDGEN:1823990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620040 {source="MONDO:equivalentTo"} xref: UMLS:C5774217 {source="MEDGEN:1823990", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015780 {source="OMIM:620040"} ! dyskeratosis congenita +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12441 {source="OMIM:620040"} [Term] id: MONDO:0031060 @@ -503767,6 +501837,7 @@ xref: MEDGEN:1823993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620047 {source="MONDO:equivalentTo"} xref: UMLS:C5774220 {source="MEDGEN:1823993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016660 {source="OMIM:620047"} ! autosomal recessive primary microcephaly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8766 {source="OMIM:620047"} [Term] id: MONDO:0031061 @@ -503793,6 +501864,7 @@ xref: OMIM:620056 {source="MONDO:equivalentTo"} xref: UMLS:C5774222 {source="MONDO:equivalentTo", source="MEDGEN:1823995", source="MONDO:MEDGEN"} is_a: MONDO:0004691 {source="OMIM:620056", source="https://orcid.org/0000-0002-4142-7153"} ! autosomal dominant polycystic kidney disease is_a: MONDO:0020642 {source="OMIM:620056"} ! polycystic kidney disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20266 {source="OMIM:620056"} [Term] id: MONDO:0031068 @@ -503821,6 +501893,7 @@ xref: MEDGEN:1824003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620072 {source="MONDO:equivalentTo"} xref: UMLS:C5774230 {source="MEDGEN:1824003", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015253 {source="OMIM:620072"} ! Diamond-Blackfan anemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26087 {source="OMIM:620072"} [Term] id: MONDO:0031077 @@ -503831,6 +501904,7 @@ xref: MEDGEN:1824009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620084 {source="MONDO:equivalentTo"} xref: UMLS:C5774236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824009"} is_a: MONDO:0004983 {source="OMIM:620084"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25079 {source="OMIM:620084"} [Term] id: MONDO:0031083 @@ -503841,6 +501915,7 @@ xref: MEDGEN:1824018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620103 {source="MONDO:equivalentTo"} xref: UMLS:C5774245 {source="MEDGEN:1824018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="OMIM:620103"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3722 {source="OMIM:620103"} [Term] id: MONDO:0031084 @@ -503855,6 +501930,7 @@ xref: MEDGEN:1824019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620104 {source="MONDO:equivalentTo"} xref: UMLS:C5774246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824019"} is_a: MONDO:0019507 {source="DOID:0060945", source="OMIM:620104"} ! amelogenesis imperfecta +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14530 {source="OMIM:620104"} [Term] id: MONDO:0031115 @@ -504238,11 +502314,11 @@ xref: OMIM:614231 {source="Orphanet:306558", source="MONDO:equivalentTo", source xref: Orphanet:306558 {source="MONDO:equivalentTo", source="OMIM:614231"} is_a: MONDO:0100328 {source="OMIM:614231"} ! microcephaly, epilepsy, and diabetes syndrome intersection_of: MONDO:0100328 ! microcephaly, epilepsy, and diabetes syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18550 ! IER3IP1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18550 relationship: excluded_subClassOf MONDO:0005015 {source="Orphanet:306558", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus relationship: excluded_subClassOf MONDO:0015655 {source="Orphanet:306558", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete cerebral malformation with epilepsy relationship: excluded_subClassOf MONDO:0017119 {source="Orphanet:306558", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with microcephaly as major feature -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18550 {source="MONDO:mim2gene_medgen", source="OMIM:614231"} ! IER3IP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18550 {source="OMIM:614231"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -504397,6 +502473,7 @@ xref: OMIM:618009 {source="MONDO:equivalentTo"} xref: UMLS:C5231400 {source="MEDGEN:1684867", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000001 {source="OMIM:618009"} ! disease is_a: MONDO:0015802 {source="OMIM:618009"} ! autosomal dominant non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22474 {source="OMIM:618009"} [Term] id: MONDO:0032526 @@ -504431,6 +502508,7 @@ xref: Orphanet:2136 {source="OMIM:618154"} xref: UMLS:C4748408 {source="MEDGEN:1648368", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000001 {source="OMIM:618154"} ! disease is_a: MONDO:0016256 {source="OMIM:618154"} ! Hennekam syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/219 {source="OMIM:618154"} [Term] id: MONDO:0032565 @@ -504441,6 +502519,7 @@ xref: MEDGEN:1648445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618155 {source="MONDO:equivalentTo"} xref: UMLS:C4748418 {source="MEDGEN:1648445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618155"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7565 {source="OMIM:618155"} [Term] id: MONDO:0032566 @@ -504452,6 +502531,7 @@ xref: MEDGEN:1648421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618156 {source="MONDO:equivalentTo"} xref: UMLS:C4748427 {source="MEDGEN:1648421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3629 {source="OMIM:618156"} [Term] id: MONDO:0032567 @@ -504471,6 +502551,7 @@ xref: Orphanet:231671 {source="OMIM:618157"} xref: UMLS:C4722273 {source="MEDGEN:1648300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000001 {source="OMIM:618157"} ! disease is_a: MONDO:0000050 {source="OMIM:618157"} ! isolated congenital growth hormone deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4266 {source="OMIM:618157"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -504482,6 +502563,7 @@ xref: MEDGEN:1648339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618158 {source="MONDO:equivalentTo"} xref: UMLS:C4748428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648339"} is_a: MONDO:0003847 {source="OMIM:618158"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8590 {source="OMIM:618158"} [Term] id: MONDO:0032569 @@ -504498,6 +502580,7 @@ xref: Orphanet:231662 {source="OMIM:618160"} xref: UMLS:C4748435 {source="MEDGEN:1648500", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000001 {source="OMIM:618160"} ! disease is_a: MONDO:0000050 {source="OMIM:618160"} ! isolated congenital growth hormone deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18666 {source="OMIM:618160"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -504531,6 +502614,7 @@ xref: UMLS:C4748455 {source="MEDGEN:1648323", source="MONDO:equivalentTo", sourc is_a: MONDO:0000001 {source="OMIM:618162"} ! disease is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29165 {source="OMIM:618162"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI [Term] @@ -504543,6 +502627,7 @@ xref: NCIT:C179868 {source="MONDO:equivalentTo"} xref: OMIM:618164 {source="MONDO:equivalentTo"} xref: UMLS:C4748484 {source="MEDGEN:1648330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618164"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20456 {source="OMIM:618164"} [Term] id: MONDO:0032573 @@ -504567,6 +502652,7 @@ xref: MEDGEN:1648332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618167 {source="MONDO:equivalentTo"} xref: UMLS:C4748496 {source="MEDGEN:1648332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618167"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17422 {source="OMIM:618167"} [Term] id: MONDO:0032575 @@ -504578,6 +502664,7 @@ xref: OMIM:618168 {source="MONDO:equivalentTo"} xref: UMLS:C4748517 {source="MEDGEN:1648425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000824 {source="OMIM:618168"} ! congenital diarrhea is_a: MONDO:0003847 {source="OMIM:618168"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12781 {source="OMIM:618168"} [Term] id: MONDO:0032576 @@ -504613,6 +502700,7 @@ xref: OMIM:618174 {source="MONDO:equivalentTo"} xref: UMLS:C4748540 {source="MEDGEN:1648399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000904 {source="OMIM:618174"} ! complex cortical dysplasia with other brain malformations is_a: MONDO:0003847 {source="OMIM:618174"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2510 {source="OMIM:618174"} [Term] id: MONDO:0032579 @@ -504641,6 +502729,7 @@ xref: Orphanet:656 {source="OMIM:618176"} xref: UMLS:C4748545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648294"} is_a: MONDO:0002350 {source="DOID:0080392", source="OMIM:618176"} ! familial nephrotic syndrome is_a: MONDO:0003847 {source="OMIM:618176"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8734 {source="OMIM:618176"} [Term] id: MONDO:0032581 @@ -504673,6 +502762,7 @@ xref: Orphanet:656 {source="OMIM:618178"} xref: UMLS:C4748552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648305"} is_a: MONDO:0002350 {source="DOID:0080394", source="OMIM:618178"} ! familial nephrotic syndrome is_a: MONDO:0003847 {source="OMIM:618178"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18017 {source="OMIM:618178"} [Term] id: MONDO:0032583 @@ -504689,6 +502779,7 @@ xref: Orphanet:656 {source="OMIM:618179"} xref: UMLS:C4748555 {source="MONDO:equivalentTo", source="MEDGEN:1648413", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618179"} ! hereditary disease is_a: MONDO:0016660 {source="OMIM:618179"} ! autosomal recessive primary microcephaly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29929 {source="OMIM:618179"} [Term] id: MONDO:0032584 @@ -504716,6 +502807,7 @@ xref: Orphanet:329242 {source="OMIM:618183"} xref: UMLS:C4748579 {source="MEDGEN:1648311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000824 {source="OMIM:618183"} ! congenital diarrhea is_a: MONDO:0003847 {source="OMIM:618183"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13635 {source="OMIM:618183"} [Term] id: MONDO:0032588 @@ -504732,6 +502824,7 @@ xref: Orphanet:98892 {source="OMIM:618185"} xref: UMLS:C4748602 {source="MEDGEN:1648287", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618185"} ! hereditary disease is_a: MONDO:0020341 {source="OMIM:618185"} ! periventricular nodular heterotopia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/652 {source="OMIM:618185"} [Term] id: MONDO:0032590 @@ -504747,6 +502840,7 @@ xref: OMIM:618187 {source="MONDO:equivalentTo"} xref: UMLS:C4748626 {source="MEDGEN:1648455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618187"} ! hereditary disease is_a: MONDO:0009299 {source="DOID:0080500", source="OMIM:618187"} ! 46 XX gonadal dysgenesis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3468 {source="OMIM:618187"} [Term] id: MONDO:0032591 @@ -504765,6 +502859,7 @@ xref: UMLS:C1300287 {source="MEDGEN:722059", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="OMIM:618188"} ! hereditary disease is_a: MONDO:0016166 {source="OMIM:618188"} ! hereditary hyperparathyroidism is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14006 {source="OMIM:618188"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -504785,6 +502880,7 @@ xref: UMLS:C4748647 {source="MEDGEN:1648379", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618189"} ! hereditary disease is_a: MONDO:0005021 {source="DOID:0081159"} ! dilated cardiomyopathy is_a: MONDO:0016333 {source="OMIM:618189"} ! familial dilated cardiomyopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25686 {source="OMIM:618189"} [Term] id: MONDO:0032594 @@ -504802,6 +502898,7 @@ xref: UMLS:C4748658 {source="MONDO:equivalentTo", source="MEDGEN:1648358", sourc is_a: MONDO:0001071 ! intellectual disability is_a: MONDO:0003847 {source="OMIM:618195"} ! hereditary disease relationship: disease_has_feature MONDO:0019200 ! retinitis pigmentosa +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13081 {source="OMIM:618195"} [Term] id: MONDO:0032596 @@ -504837,6 +502934,7 @@ xref: UMLS:C4748684 {source="MEDGEN:1648337", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618198"} ! hereditary disease is_a: MONDO:0018940 {source="OMIM:618198"} ! congenital myasthenic syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7608 {source="OMIM:618198"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -504858,6 +502956,7 @@ xref: Orphanet:442835 {source="OMIM:618201"} xref: UMLS:C4748688 {source="MONDO:equivalentTo", source="MEDGEN:1648479", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618201"} ! hereditary disease is_a: MONDO:0100062 {source="DOID:0112204", source="OMIM:618201"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29947 {source="OMIM:618201"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -504896,6 +502995,7 @@ xref: Orphanet:599082 {source="MONDO:equivalentTo"} xref: UMLS:C4748701 {source="MEDGEN:1648495", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618205"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032600 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1918 {source="OMIM:618205"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7576" xsd:anyURI [Term] @@ -504930,6 +503030,7 @@ xref: Orphanet:93334 {source="OMIM:618219"} xref: UMLS:C4748721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648428"} is_a: MONDO:0003847 {source="OMIM:618219"} ! hereditary disease is_a: MONDO:0020927 {source="OMIM:618219"} ! postaxial polydactyly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30452 {source="OMIM:618219"} [Term] id: MONDO:0032604 @@ -504947,6 +503048,7 @@ xref: Orphanet:791 {source="OMIM:618220"} xref: UMLS:C4748725 {source="MEDGEN:1648352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618220"} ! hereditary disease is_a: MONDO:0019200 {source="DOID:0112141", source="OMIM:618220"} ! retinitis pigmentosa +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17211 {source="OMIM:618220"} [Term] id: MONDO:0032605 @@ -504984,7 +503086,8 @@ xref: UMLS:C4748737 {source="MEDGEN:1648466", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618222"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112083", source="OMIM:618222"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7715 ! NDUFS8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7715 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7715 {source="OMIM:618222"} [Term] id: MONDO:0032607 @@ -504996,6 +503099,7 @@ xref: MEDGEN:1648299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618223 {source="MONDO:equivalentTo"} xref: UMLS:C4748741 {source="MEDGEN:1648299", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618223"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11597 {source="OMIM:618223"} [Term] id: MONDO:0032608 @@ -505014,7 +503118,8 @@ xref: UMLS:C4748752 {source="MEDGEN:1648346", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112093", source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7714 ! NDUFS7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7714 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7714 {source="OMIM:618224"} [Term] id: MONDO:0032609 @@ -505033,7 +503138,8 @@ xref: UMLS:C4748753 {source="MEDGEN:1648324", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112082", source="OMIM:618224", source="OMIM:618225"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7716 ! NDUFV1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7716 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7716 {source="OMIM:618225"} [Term] id: MONDO:0032610 @@ -505053,7 +503159,8 @@ xref: UMLS:C4748754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112068", source="OMIM:618224", source="OMIM:618226"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7707 ! NDUFS1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7707 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7707 {source="OMIM:618226"} [Term] id: MONDO:0032611 @@ -505092,7 +503199,8 @@ xref: UMLS:C4748760 {source="MEDGEN:1648484", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112092", source="OMIM:618224", source="OMIM:618229"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7717 ! NDUFV2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7717 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7717 {source="OMIM:618229"} [Term] id: MONDO:0032613 @@ -505111,7 +503219,8 @@ xref: UMLS:C4748766 {source="MEDGEN:1648411", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112081", source="OMIM:618224", source="OMIM:618230"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7710 ! NDUFS3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7710 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7710 {source="OMIM:618230"} [Term] id: MONDO:0032614 @@ -505125,6 +503234,7 @@ xref: Orphanet:302 {source="OMIM:618231"} xref: UMLS:C4722258 {source="MEDGEN:1648344", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100043 {source="OMIM:618231", source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618231", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20474 {source="OMIM:618231"} relationship: predisposes_towards MONDO:0009176 {source="OMIM:618231"} ! epidermodysplasia verruciformis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -505145,7 +503255,8 @@ xref: UMLS:C4748767 {source="MEDGEN:1648447", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112073", source="OMIM:618224", source="OMIM:618232"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7713 ! NDUFS6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7713 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7713 {source="OMIM:618232"} [Term] id: MONDO:0032616 @@ -505164,7 +503275,8 @@ xref: UMLS:C4748768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112075", source="OMIM:618224", source="OMIM:618233"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28086 ! NDUFAF2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28086 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28086 {source="OMIM:618233"} [Term] id: MONDO:0032617 @@ -505182,7 +503294,8 @@ xref: UMLS:C4748769 {source="MEDGEN:1648356", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112089", source="OMIM:618224", source="OMIM:618234"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18828 ! NDUFAF1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18828 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18828 {source="OMIM:618234"} [Term] id: MONDO:0032618 @@ -505200,7 +503313,8 @@ xref: UMLS:C4748770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112076", source="OMIM:618224", source="OMIM:618235"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7685 ! NDUFA2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7685 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7685 {source="OMIM:618235"} [Term] id: MONDO:0032619 @@ -505218,7 +503332,8 @@ xref: UMLS:C4748777 {source="MEDGEN:1648440", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112094", source="OMIM:618224", source="OMIM:618236"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20371 ! NDUFA11 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20371 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20371 {source="OMIM:618236"} [Term] id: MONDO:0032620 @@ -505236,7 +503351,8 @@ xref: UMLS:C4748778 {source="MEDGEN:1648320", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112077", source="OMIM:618224", source="OMIM:618237"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21034 ! NDUFAF4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21034 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21034 {source="OMIM:618237"} [Term] id: MONDO:0032621 @@ -505254,7 +503370,8 @@ xref: UMLS:C4748785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112096", source="OMIM:618224", source="OMIM:618238"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15899 ! NDUFAF5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15899 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15899 {source="OMIM:618238"} [Term] id: MONDO:0032622 @@ -505291,7 +503408,8 @@ xref: UMLS:C4748790 {source="MEDGEN:1648321", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112070", source="OMIM:618224", source="OMIM:618240"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29918 ! NDUFAF3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29918 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29918 {source="OMIM:618240"} [Term] id: MONDO:0032624 @@ -505310,7 +503428,8 @@ xref: UMLS:C4748791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112085", source="OMIM:618224", source="OMIM:618241"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26927 ! FOXRED1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26927 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26927 {source="OMIM:618241"} [Term] id: MONDO:0032625 @@ -505328,7 +503447,8 @@ xref: UMLS:C4748792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112088", source="OMIM:618224", source="OMIM:618242"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20278 ! NUBPL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20278 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20278 {source="OMIM:618242"} [Term] id: MONDO:0032626 @@ -505346,7 +503466,8 @@ xref: UMLS:C4748796 {source="MONDO:equivalentTo", source="MEDGEN:1648347", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112069", source="OMIM:618224", source="OMIM:618243"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7684 ! NDUFA10 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7684 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7684 {source="OMIM:618243"} [Term] id: MONDO:0032627 @@ -505364,7 +503485,8 @@ xref: UMLS:C4748799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112087", source="OMIM:618224", source="OMIM:618244"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23987 ! NDUFA12 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23987 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23987 {source="OMIM:618244"} [Term] id: MONDO:0032628 @@ -505382,7 +503504,8 @@ xref: UMLS:C4748803 {source="MEDGEN:1648364", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112079", source="OMIM:618224", source="OMIM:618245"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7704 ! NDUFB9 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7704 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7704 {source="OMIM:618245"} [Term] id: MONDO:0032629 @@ -505400,7 +503523,8 @@ xref: UMLS:C4748806 {source="MEDGEN:1648366", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112067", source="OMIM:618224", source="OMIM:618246"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7698 ! NDUFB3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7698 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7698 {source="OMIM:618246"} [Term] id: MONDO:0032630 @@ -505416,7 +503540,8 @@ xref: UMLS:C4748809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112086", source="OMIM:618224", source="OMIM:618247"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7693 ! NDUFA9 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7693 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7693 {source="OMIM:618247"} [Term] id: MONDO:0032631 @@ -505470,7 +503595,8 @@ xref: UMLS:C4748830 {source="MEDGEN:1648451", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112084", source="OMIM:618224", source="OMIM:618250"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30883 ! TMEM126B +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30883 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30883 {source="OMIM:618250"} [Term] id: MONDO:0032634 @@ -505488,7 +503614,8 @@ xref: UMLS:C4748838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112071", source="OMIM:618224", source="OMIM:618251"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1321 ! TIMMDC1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1321 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1321 {source="OMIM:618251"} [Term] id: MONDO:0032635 @@ -505506,7 +503633,8 @@ xref: UMLS:C4748839 {source="MONDO:equivalentTo", source="MEDGEN:1648336", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112080", source="OMIM:618224", source="OMIM:618252"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7703 ! NDUFB8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7703 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7703 {source="OMIM:618252"} [Term] id: MONDO:0032636 @@ -505524,7 +503652,8 @@ xref: UMLS:C4748840 {source="MEDGEN:1648420", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112097", source="OMIM:618224", source="OMIM:618253"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7690 ! NDUFA6 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7690 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7690 {source="OMIM:618253"} [Term] id: MONDO:0032637 @@ -505542,6 +503671,7 @@ xref: OMIM:618254 {source="MONDO:equivalentTo"} xref: UMLS:C4748841 {source="MEDGEN:1648363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618254"} ! hereditary disease is_a: MONDO:0016575 {source="DOID:0111854", source="OMIM:618254"} ! primary ciliary dyskinesia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25430 {source="OMIM:618254"} [Term] id: MONDO:0032639 @@ -505560,6 +503690,7 @@ xref: Orphanet:90636 {source="OMIM:618257"} xref: UMLS:C4748855 {source="MEDGEN:1648378", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618257"} ! hereditary disease is_a: MONDO:0019588 {source="DOID:0111637", source="OMIM:618257"} ! hearing loss, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13652 {source="OMIM:618257"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -505579,6 +503710,7 @@ xref: Orphanet:238722 {source="OMIM:618264"} xref: UMLS:C4748869 {source="MEDGEN:1648342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618264"} ! hereditary disease is_a: MONDO:0016558 {source="OMIM:618264"} ! familial congenital mirror movements +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8029 {source="OMIM:618264"} [Term] id: MONDO:0032642 @@ -505629,6 +503761,7 @@ xref: Orphanet:302 {source="OMIM:618267"} xref: UMLS:C4748876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648390"} is_a: MONDO:0100043 {source="OMIM:618267", source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618267", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16920 {source="OMIM:618267"} relationship: predisposes_towards MONDO:0009176 {source="OMIM:618267"} ! epidermodysplasia verruciformis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -505642,6 +503775,7 @@ xref: MEDGEN:1648322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618268 {source="MONDO:equivalentTo"} xref: UMLS:C4748898 {source="MEDGEN:1648322", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618268"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24856 {source="OMIM:618268"} [Term] id: MONDO:0032646 @@ -505656,6 +503790,7 @@ xref: OMIM:618270 {source="MONDO:equivalentTo"} xref: UMLS:C4748921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648427"} is_a: MONDO:0003847 {source="OMIM:618270"} ! hereditary disease is_a: MONDO:0019719 {source="OMIM:618270"} ! congenital anomaly of kidney and urinary tract +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8001 {source="OMIM:618270"} [Term] id: MONDO:0032647 @@ -505675,6 +503810,7 @@ xref: MEDGEN:1648439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618273 {source="MONDO:equivalentTo"} xref: UMLS:C4748927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648439"} is_a: MONDO:0003847 {source="OMIM:618273"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19034 {source="OMIM:618273"} [Term] id: MONDO:0032649 @@ -505701,6 +503837,7 @@ xref: MEDGEN:1648286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618276 {source="MONDO:equivalentTo"} xref: UMLS:C4748934 {source="MEDGEN:1648286", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618276"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17258 {source="OMIM:618276"} [Term] id: MONDO:0032651 @@ -505712,6 +503849,7 @@ xref: MEDGEN:1648312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618278 {source="MONDO:equivalentTo"} xref: UMLS:C4748939 {source="MEDGEN:1648312", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618278"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24731 {source="OMIM:618278"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -505743,6 +503881,7 @@ xref: OMIM:618282 {source="MONDO:equivalentTo"} xref: UMLS:C4748969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648483"} is_a: MONDO:0003847 {source="OMIM:618282"} ! hereditary disease is_a: MONDO:0018037 {source="DOID:0080595", source="OMIM:618282"} ! hyper-IgE syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15992 {source="OMIM:618282"} [Term] id: MONDO:0032655 @@ -505754,6 +503893,7 @@ xref: MEDGEN:1648430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618283 {source="MONDO:equivalentTo"} xref: UMLS:C4748978 {source="MEDGEN:1648430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618283"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6897 {source="OMIM:618283"} [Term] id: MONDO:0032656 @@ -505764,6 +503904,7 @@ xref: MEDGEN:1648355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618284 {source="MONDO:equivalentTo"} xref: UMLS:C4748984 {source="MEDGEN:1648355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618284"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6222 {source="OMIM:618284"} [Term] id: MONDO:0032657 @@ -505782,6 +503923,7 @@ xref: OMIM:618285 {source="MONDO:equivalentTo"} xref: UMLS:C4748988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648381"} is_a: MONDO:0003847 {source="OMIM:618285"} ! hereditary disease is_a: MONDO:0100062 {source="DOID:0112205", source="OMIM:618285"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1392 {source="OMIM:618285"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -505794,6 +503936,7 @@ xref: MEDGEN:1648471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618286 {source="MONDO:equivalentTo"} xref: UMLS:C4748993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648471"} is_a: MONDO:0003847 {source="OMIM:618286"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7785 {source="OMIM:618286"} [Term] id: MONDO:0032659 @@ -505804,6 +503947,7 @@ xref: MEDGEN:1648375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618287 {source="MONDO:equivalentTo"} xref: UMLS:C4748997 {source="MEDGEN:1648375", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618287"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9955 {source="OMIM:618287"} [Term] id: MONDO:0032660 @@ -505836,6 +503980,7 @@ xref: Orphanet:528084 {source="OMIM:618292"} xref: UMLS:C4749014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648291"} is_a: MONDO:0003847 {source="OMIM:618292"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2989 {source="OMIM:618292"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -505853,6 +503998,7 @@ xref: OMIM:618295 {source="MONDO:equivalentTo"} xref: UMLS:C4749019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648350"} is_a: MONDO:0003847 {source="OMIM:618295"} ! hereditary disease is_a: MONDO:0019502 {source="DOID:0081228", source="OMIM:618295"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3275 {source="OMIM:618295"} [Term] id: MONDO:0032663 @@ -505873,6 +504019,7 @@ xref: Orphanet:3451 {source="OMIM:618298"} xref: UMLS:C4749023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648407"} is_a: MONDO:0003847 {source="OMIM:618298"} ! hereditary disease is_a: MONDO:0100062 {source="DOID:0112206", source="OMIM:618298"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20990 {source="OMIM:618298"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -505891,6 +504038,7 @@ xref: OMIM:618300 {source="MONDO:equivalentTo"} xref: UMLS:C4749028 {source="MEDGEN:1648365", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618300"} ! hereditary disease is_a: MONDO:0016575 {source="DOID:0111853", source="OMIM:618300"} ! primary ciliary dyskinesia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2953 {source="OMIM:618300"} [Term] id: MONDO:0032665 @@ -505907,6 +504055,7 @@ xref: OMIM:618302 {source="MONDO:equivalentTo"} xref: UMLS:C4749033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648490"} is_a: MONDO:0003847 {source="OMIM:618302"} ! hereditary disease is_a: MONDO:0019502 {source="DOID:0081229", source="OMIM:618302"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25980 {source="OMIM:618302"} [Term] id: MONDO:0032666 @@ -505922,6 +504071,7 @@ xref: UMLS:C4749042 {source="MEDGEN:1648396", source="MONDO:equivalentTo", sourc is_a: MONDO:0100043 {source="OMIM:618307", source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032666 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618307", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/686 {source="OMIM:618307"} relationship: predisposes_towards MONDO:0009176 {source="OMIM:618307"} ! epidermodysplasia verruciformis [Term] @@ -505935,6 +504085,7 @@ xref: Orphanet:302 {source="OMIM:618309"} xref: UMLS:C4749043 {source="MEDGEN:1648489", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100043 {source="OMIM:618309", source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618309", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6023 {source="OMIM:618309"} relationship: predisposes_towards MONDO:0009176 {source="OMIM:618309"} ! epidermodysplasia verruciformis [Term] @@ -505953,6 +504104,7 @@ xref: Orphanet:124 {source="OMIM:618310"} xref: UMLS:C5193020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681154"} is_a: MONDO:0003847 {source="OMIM:618310"} ! hereditary disease is_a: MONDO:0015253 {source="DOID:0111896", source="OMIM:618310"} ! Diamond-Blackfan anemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10310 {source="OMIM:618310"} [Term] id: MONDO:0032669 @@ -505970,6 +504122,7 @@ xref: Orphanet:124 {source="OMIM:618312"} xref: UMLS:C5193021 {source="MEDGEN:1683070", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618312"} ! hereditary disease is_a: MONDO:0015253 {source="DOID:0111886", source="OMIM:618312"} ! Diamond-Blackfan anemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10344 {source="OMIM:618312"} [Term] id: MONDO:0032670 @@ -505987,6 +504140,7 @@ xref: Orphanet:124 {source="OMIM:618313"} xref: UMLS:C5193022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674961"} is_a: MONDO:0003847 {source="OMIM:618313"} ! hereditary disease is_a: MONDO:0015253 {source="DOID:0111891", source="OMIM:618313"} ! Diamond-Blackfan anemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10389 {source="OMIM:618313"} [Term] id: MONDO:0032672 @@ -506006,6 +504160,7 @@ xref: OMIM:618316 {source="MONDO:equivalentTo"} xref: Orphanet:562569 {source="OMIM:618316", source="MONDO:equivalentTo"} xref: UMLS:C5193024 {source="MEDGEN:1675627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618316"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28983 {source="OMIM:618316"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7580" xsd:anyURI [Term] @@ -506021,6 +504176,7 @@ xref: UMLS:C5193025 {source="MEDGEN:1683911", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618317"} ! hereditary disease is_a: MONDO:0008947 {source="OMIM:618317"} ! bilateral striopallidodentate calcinosis relationship: has_characteristic MONDO:0700005 ! idiopathic +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19918 {source="OMIM:618317"} [Term] id: MONDO:0032675 @@ -506063,6 +504219,7 @@ is_a: MONDO:0003847 {source="OMIM:618325"} ! hereditary disease is_a: MONDO:0018838 {source="OMIM:618325"} ! lissencephaly spectrum disorders is_a: MONDO:0100472 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! lissencephaly spectrum disorder with complex brainstem malformation relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13664 {source="OMIM:618325"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6271" xsd:anyURI [Term] @@ -506091,7 +504248,6 @@ is_a: MONDO:0019052 {source="Orphanet:557064", source="PMID:30575854"} ! inborn is_a: MONDO:0100062 {source="DOID:0112207", source="OMIM:618328"} ! developmental and epileptic encephalopathy is_a: MONDO:0600001 {source="Orphanet:557064", source="PMID:30575854", source="https://orcid.org/0000-0002-7437-8060"} ! glutaminase deficiency relationship: excluded_subClassOf MONDO:0017352 {source="Orphanet:557064", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of glutamine metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4331 {source="OMIM:618328", source="Orphanet:557064", source="PMID:30575854"} ! GLS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2982" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6329" xsd:anyURI @@ -506109,6 +504265,7 @@ xref: OMIM:618329 {source="MONDO:equivalentTo"} xref: UMLS:C5193031 {source="MEDGEN:1675208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0111499", source="OMIM:618329"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="OMIM:618329"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33702 {source="OMIM:618329"} [Term] id: MONDO:0032680 @@ -506123,6 +504280,7 @@ xref: OMIM:618330 {source="MONDO:equivalentTo"} xref: Orphanet:178469 {source="OMIM:618330"} xref: UMLS:C5193032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1675328"} is_a: MONDO:0003847 {source="OMIM:618330"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2557 {source="OMIM:618330"} [Term] id: MONDO:0032681 @@ -506135,6 +504293,7 @@ xref: OMIM:618331 {source="MONDO:equivalentTo"} xref: UMLS:C5193033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682670"} is_a: MONDO:0003847 {source="OMIM:618331"} ! hereditary disease is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30887 {source="OMIM:618331"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI [Term] @@ -506180,6 +504339,7 @@ xref: OMIM:618341 {source="MONDO:equivalentTo"} xref: UMLS:C5193038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679765"} is_a: MONDO:0003847 {source="OMIM:618341"} ! hereditary disease is_a: MONDO:0004983 {source="DOID:0111914", source="OMIM:618341"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25326 {source="OMIM:618341"} [Term] id: MONDO:0032687 @@ -506195,6 +504355,7 @@ xref: MEDGEN:1675423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618342 {source="MONDO:equivalentTo"} xref: UMLS:C5193039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1675423"} is_a: MONDO:0003847 {source="OMIM:618342"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26033 {source="OMIM:618342"} [Term] id: MONDO:0032688 @@ -506231,6 +504392,7 @@ xref: Orphanet:791 {source="OMIM:618345"} xref: UMLS:C5193041 {source="MONDO:equivalentTo", source="MEDGEN:1682947", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618345"} ! hereditary disease is_a: MONDO:0019200 {source="DOID:0112142", source="OMIM:618345"} ! retinitis pigmentosa +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/348 {source="OMIM:618345"} [Term] id: MONDO:0032690 @@ -506305,6 +504467,7 @@ xref: OMIM:618351 {source="MONDO:equivalentTo"} xref: UMLS:C5193046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674123"} is_a: MONDO:0003847 {source="OMIM:618351"} ! hereditary disease is_a: MONDO:0016660 {source="OMIM:618351"} ! autosomal recessive primary microcephaly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25604 {source="OMIM:618351"} [Term] id: MONDO:0032696 @@ -506317,6 +504480,7 @@ xref: Orphanet:404466 {source="OMIM:618353"} xref: UMLS:C5193047 {source="MEDGEN:1682649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618353"} ! hereditary disease is_a: MONDO:0014769 {source="OMIM:618353"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13188 {source="OMIM:618353"} [Term] id: MONDO:0032697 @@ -506330,6 +504494,7 @@ xref: UMLS:C5193048 {source="MEDGEN:1677130", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618354"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder is_a: MONDO:0957553 {source="OMIM:618354"} ! Houge-Janssens syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9299 {source="OMIM:618354"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6531" xsd:anyURI @@ -506344,6 +504509,7 @@ xref: OMIM:618356 {source="MONDO:equivalentTo"} xref: UMLS:C5193049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674767"} is_a: MONDO:0003847 {source="OMIM:618356"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29866 {source="OMIM:618356"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -506358,6 +504524,7 @@ xref: UMLS:C5193050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0020573 {source="OMIM:618357"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618357", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: excluded_subClassOf MONDO:0005579 {source="OMIM:618357", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10259 {source="OMIM:618357"} relationship: predisposes_towards MONDO:0005579 {source="OMIM:618357"} ! epilepsy, idiopathic generalized property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI @@ -506382,7 +504549,7 @@ is_a: MONDO:0003847 {source="OMIM:618362"} ! hereditary disease is_a: MONDO:0015452 {source="DOID:0112367", source="OMIM:618362"} ! Coffin-Siris syndrome is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy relationship: excluded_subClassOf MONDO:0015802 {source="OMIM:618362", source="https://github.com/monarch-initiative/mondo/issues/1466", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11105 {source="OMIM:618362", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! SMARCC2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11105 {source="OMIM:618362"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI [Term] @@ -506398,6 +504565,7 @@ xref: OMIM:618363 {source="MONDO:equivalentTo"} xref: UMLS:C5193055 {source="MEDGEN:1676818", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618363"} ! hereditary disease is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23088 {source="OMIM:618363"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -506421,6 +504589,7 @@ is_a: MONDO:0003847 {source="OMIM:618367"} ! hereditary disease is_a: MONDO:0017313 {source="Orphanet:597874"} ! disorder of folate metabolism and transport is_a: MONDO:0019046 {source="Orphanet:597874"} ! leukodystrophy is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7437 {source="OMIM:618367"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3542" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -506438,6 +504607,7 @@ xref: OMIM:618369 {source="MONDO:equivalentTo"} xref: UMLS:C5193058 {source="MEDGEN:1672866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618369"} ! hereditary disease is_a: MONDO:0015244 {source="DOID:0111616", source="OMIM:618369"} ! autosomal recessive cerebellar ataxia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18010 {source="OMIM:618369"} [Term] id: MONDO:0032707 @@ -506451,6 +504621,7 @@ xref: OMIM:618371 {source="MONDO:equivalentTo"} xref: UMLS:C5193060 {source="MONDO:equivalentTo", source="MEDGEN:1683283", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618371"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032707 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12929 {source="OMIM:618371"} [Term] id: MONDO:0032710 @@ -506469,6 +504640,7 @@ xref: OMIM:618374 {source="MONDO:equivalentTo"} xref: UMLS:C5193063 {source="MEDGEN:1681879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618374"} ! hereditary disease is_a: MONDO:0100062 {source="DOID:0112208", source="OMIM:618374"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7763 {source="OMIM:618374"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -506484,6 +504656,7 @@ xref: OMIM:618378 {source="MONDO:equivalentTo"} xref: UMLS:C5193064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682102"} is_a: MONDO:0000732 {source="DOID:0111466", source="OMIM:618378"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="OMIM:618378"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14049 {source="OMIM:618378"} [Term] id: MONDO:0032714 @@ -506501,6 +504674,7 @@ xref: OMIM:618381 {source="MONDO:equivalentTo"} xref: Orphanet:598603 {source="MONDO:equivalentTo"} xref: UMLS:C5193066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679105"} is_a: MONDO:0003847 {source="OMIM:618381"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6279 {source="OMIM:618381"} [Term] id: MONDO:0032715 @@ -506517,6 +504691,7 @@ xref: OMIM:618383 {source="MONDO:equivalentTo"} xref: UMLS:C5193067 {source="MEDGEN:1676539", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618383"} ! hereditary disease is_a: MONDO:0019502 {source="DOID:0081230", source="OMIM:618383"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16740 {source="OMIM:618383"} [Term] id: MONDO:0032716 @@ -506538,6 +504713,7 @@ xref: Orphanet:615964 {source="MONDO:equivalentTo"} xref: UMLS:C5193068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677730"} is_a: MONDO:0003847 {source="OMIM:618384"} ! hereditary disease relationship: has_characteristic PATO:0000389 ! acute +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14430 {source="OMIM:618384"} [Term] id: MONDO:0032717 @@ -506554,6 +504730,7 @@ xref: UMLS:C5193069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618386"} ! hereditary disease is_a: MONDO:0019507 {source="OMIM:618386"} ! amelogenesis imperfecta is_a: MONDO:0968955 {source="https://orcid.org/0000-0001-5493-2602"} ! hypocalcified amelogenesis imperfecta +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13764 {source="OMIM:618386"} [Term] id: MONDO:0032721 @@ -506571,6 +504748,7 @@ xref: OMIM:618392 {source="MONDO:equivalentTo"} xref: UMLS:C5193071 {source="MEDGEN:1683128", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618392"} ! hereditary disease is_a: MONDO:0016761 {source="DOID:0112283", source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15456 {source="OMIM:618392"} [Term] id: MONDO:0032723 @@ -506587,6 +504765,7 @@ xref: UMLS:C5193072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618394"} ! hereditary disease is_a: MONDO:0021094 {source="OMIM:618394"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032723 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14078 {source="OMIM:618394"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -506610,6 +504789,7 @@ xref: UMLS:C5193073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618395"} ! hereditary disease is_a: MONDO:0006025 {source="DOID:0112200"} ! autosomal recessive disease is_a: MONDO:0019675 {source="DOID:0112200", source="OMIM:618395"} ! spondyloepimetaphyseal dysplasia with joint laxity +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17085 {source="OMIM:618395"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -506651,6 +504831,7 @@ xref: Orphanet:565624 {source="MONDO:equivalentTo", source="OMIM:618397"} xref: UMLS:C5193075 {source="MEDGEN:1683958", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0111475", source="OMIM:618397"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="OMIM:618397"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29682 {source="OMIM:618397"} [Term] id: MONDO:0032728 @@ -506686,6 +504867,7 @@ xref: Orphanet:88616 {source="OMIM:618402"} xref: UMLS:C5193077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679317"} is_a: MONDO:0003847 {source="OMIM:618402"} ! hereditary disease is_a: MONDO:0019502 {source="DOID:0081231", source="OMIM:618402"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24152 {source="OMIM:618402"} [Term] id: MONDO:0032730 @@ -506701,6 +504883,7 @@ xref: OMIM:618404 {source="MONDO:equivalentTo"} xref: UMLS:C5193078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1680067"} is_a: MONDO:0003847 {source="OMIM:618404"} ! hereditary disease is_a: MONDO:0019046 {source="DOID:0070399", source="OMIM:618404"} ! leukodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13709 {source="OMIM:618404"} [Term] id: MONDO:0032732 @@ -506748,6 +504931,7 @@ xref: Orphanet:98994 {source="OMIM:618415"} xref: UMLS:C5193082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684457"} is_a: MONDO:0003847 {source="OMIM:618415"} ! hereditary disease is_a: MONDO:0005129 {source="DOID:0070354", source="OMIM:618415"} ! cataract +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30373 {source="OMIM:618415"} [Term] id: MONDO:0032736 @@ -506758,6 +504942,7 @@ xref: MEDGEN:1681269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618416 {source="MONDO:equivalentTo"} xref: UMLS:C5193083 {source="MEDGEN:1681269", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618416"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28380 {source="OMIM:618416"} [Term] id: MONDO:0032737 @@ -506777,6 +504962,7 @@ xref: Orphanet:631068 {source="MONDO:equivalentTo"} xref: UMLS:C5193084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682111"} is_a: MONDO:0003847 {source="OMIM:618418"} ! hereditary disease is_a: MONDO:0019064 {source="DOID:0112341", source="OMIM:618418"} ! hereditary spastic paraplegia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12461 {source="OMIM:618418"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI [Term] @@ -506823,6 +505009,7 @@ xref: Orphanet:90636 {source="OMIM:618422"} xref: UMLS:C5193087 {source="MEDGEN:1682525", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618422"} ! hereditary disease is_a: MONDO:0019588 {source="DOID:0111638", source="OMIM:618422"} ! hearing loss, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29035 {source="OMIM:618422"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -506836,6 +505023,7 @@ xref: OMIM:618425 {source="MONDO:equivalentTo"} xref: UMLS:C5193088 {source="MEDGEN:1681181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618425"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12927 {source="OMIM:618425"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -506867,6 +505055,7 @@ xref: Orphanet:276234 {source="OMIM:618429"} xref: UMLS:C5193091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677534"} is_a: MONDO:0003847 {source="OMIM:618429"} ! hereditary disease is_a: MONDO:0004983 {source="DOID:0111927", source="OMIM:618429"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30761 {source="OMIM:618429"} [Term] id: MONDO:0032745 @@ -506885,6 +505074,7 @@ xref: Orphanet:528084 {source="OMIM:618430"} xref: UMLS:C5193092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676192"} is_a: MONDO:0003847 {source="OMIM:618430"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032745 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11631 {source="OMIM:618430"} [Term] id: MONDO:0032746 @@ -506900,6 +505090,7 @@ xref: Orphanet:254688 {source="OMIM:618431"} xref: UMLS:C5193093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677775"} is_a: MONDO:0003847 {source="OMIM:618431"} ! hereditary disease is_a: MONDO:0006248 {source="OMIM:618431"} ! hydatidiform mole +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28613 {source="OMIM:618431"} [Term] id: MONDO:0032747 @@ -506933,6 +505124,7 @@ xref: UMLS:C5193095 {source="MEDGEN:1680356", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618433"} ! hereditary disease is_a: MONDO:0004983 {source="DOID:0111919", source="OMIM:618433"} ! spermatogenic failure relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032748 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23045 {source="OMIM:618433"} [Term] id: MONDO:0032749 @@ -506972,6 +505164,7 @@ is_a: MONDO:0003847 {source="OMIM:618435"} ! hereditary disease is_a: MONDO:0011128 {source="DOID:0111601"} ! Sheldon-hall syndrome is_a: MONDO:0019942 {source="OMIM:618435"} ! distal arthrogryposis relationship: has_characteristic HP:0000006 {source="DOID:0111601"} ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11950 {source="OMIM:618435"} [Term] id: MONDO:0032751 @@ -507015,6 +505208,7 @@ xref: Orphanet:442835 {source="OMIM:618437"} xref: UMLS:C5193099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684253"} is_a: MONDO:0003847 {source="OMIM:618437"} ! hereditary disease is_a: MONDO:0100062 {source="DOID:0112211", source="OMIM:618437"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30563 {source="OMIM:618437"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -507030,6 +505224,7 @@ xref: OMIM:618438 {source="MONDO:equivalentTo"} xref: UMLS:C5193100 {source="MEDGEN:1680026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618438"} ! hereditary disease is_a: MONDO:0017845 {source="OMIM:618438"} ! spastic ataxia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17433 {source="OMIM:618438"} [Term] id: MONDO:0032755 @@ -507044,6 +505239,7 @@ xref: UMLS:C5193102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618443"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032755 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6884 {source="OMIM:618443"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -507078,6 +505274,7 @@ xref: UMLS:C5193103 {source="MEDGEN:1680404", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618449"} ! hereditary disease is_a: MONDO:0016575 {source="DOID:0111858", source="OMIM:618449"} ! primary ciliary dyskinesia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032757 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24846 {source="OMIM:618449"} [Term] id: MONDO:0032758 @@ -507088,6 +505285,7 @@ xref: MEDGEN:1676579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618451 {source="MONDO:equivalentTo"} xref: UMLS:C5193104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676579"} is_a: MONDO:0003847 {source="OMIM:618451"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6115 {source="OMIM:618451"} [Term] id: MONDO:0032759 @@ -507098,6 +505296,7 @@ xref: MEDGEN:1680968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618453 {source="MONDO:equivalentTo"} xref: UMLS:C5193105 {source="MEDGEN:1680968", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618453"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32225 {source="OMIM:618453"} [Term] id: MONDO:0032760 @@ -507126,6 +505325,7 @@ xref: Orphanet:90636 {source="OMIM:618456"} xref: UMLS:C5193107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684024"} is_a: MONDO:0003847 {source="OMIM:618456"} ! hereditary disease is_a: MONDO:0019588 {source="DOID:0111642", source="OMIM:618456"} ! hearing loss, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4562 {source="OMIM:618456"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -507143,6 +505343,7 @@ xref: OMIM:618457 {source="MONDO:equivalentTo"} xref: UMLS:C5193108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681630"} is_a: MONDO:0003847 {source="OMIM:618457"} ! hereditary disease is_a: MONDO:0019588 {source="DOID:0111643", source="OMIM:618457"} ! hearing loss, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26992 {source="OMIM:618457"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -507161,6 +505362,7 @@ xref: UMLS:C5193109 {source="MONDO:equivalentTo", source="MEDGEN:1673905", sourc is_a: MONDO:0003847 {source="OMIM:618459"} ! hereditary disease is_a: MONDO:0021094 {source="OMIM:618459"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032763 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/681 {source="OMIM:618459"} [Term] id: MONDO:0032764 @@ -507174,6 +505376,7 @@ xref: OMIM:618460 {source="MONDO:equivalentTo"} xref: UMLS:C5193110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682553"} is_a: MONDO:0003847 {source="OMIM:618460"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032764 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21904 {source="OMIM:618460"} [Term] id: MONDO:0032765 @@ -507206,7 +505409,6 @@ xref: OMIM:618463 {source="MONDO:equivalentTo"} xref: Orphanet:425 {source="OMIM:618463"} xref: UMLS:C5551172 {source="MEDGEN:1789263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618463"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/600 {source="OMIM:618463"} ! APOA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -507224,6 +505426,7 @@ xref: Orphanet:29072 {source="OMIM:618464"} xref: UMLS:C5193112 {source="MEDGEN:1681559", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000448 {source="OMIM:618464"} ! paraganglioma is_a: MONDO:0003847 {source="OMIM:618464"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10981 {source="OMIM:618464"} [Term] id: MONDO:0032768 @@ -507263,7 +505466,6 @@ xref: Orphanet:528084 {source="OMIM:618470"} xref: UMLS:C5193115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682234"} is_a: MONDO:0003847 {source="OMIM:618470"} ! hereditary disease is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/160 {source="OMIM:618470", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! ACTL6B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI [Term] @@ -507281,6 +505483,7 @@ xref: Orphanet:29072 {source="OMIM:618475"} xref: UMLS:C5193116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673088"} is_a: MONDO:0000448 {source="OMIM:618475"} ! paraganglioma is_a: MONDO:0003847 {source="OMIM:618475"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2911 {source="OMIM:618475"} [Term] id: MONDO:0032772 @@ -507305,6 +505508,7 @@ xref: OMIM:618477 {source="MONDO:equivalentTo"} xref: UMLS:C4760647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681582"} is_a: MONDO:0003847 {source="OMIM:618477"} ! hereditary disease is_a: MONDO:0019052 ! inborn errors of metabolism +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11001 {source="OMIM:618477"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -507316,6 +505520,7 @@ xref: MEDGEN:1680057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618479 {source="MONDO:equivalentTo"} xref: UMLS:C5193118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1680057"} is_a: MONDO:0003847 {source="OMIM:618479"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6757 {source="OMIM:618479"} [Term] id: MONDO:0032775 @@ -507328,6 +505533,7 @@ xref: OMIM:618480 {source="MONDO:equivalentTo"} xref: UMLS:C5193119 {source="MEDGEN:1672912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618480"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2869 {source="OMIM:618480"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6565" xsd:anyURI @@ -507347,6 +505553,7 @@ xref: Orphanet:90636 {source="OMIM:618481"} xref: UMLS:C4760579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678930"} is_a: MONDO:0003847 {source="OMIM:618481"} ! hereditary disease is_a: MONDO:0019588 {source="DOID:0111634", source="OMIM:618481"} ! hearing loss, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26991 {source="OMIM:618481"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -507395,6 +505602,7 @@ xref: OMIM:618492 {source="MONDO:equivalentTo"} xref: UMLS:C5193123 {source="MEDGEN:1677276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618492"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2964 {source="OMIM:618492"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -507409,6 +505617,7 @@ xref: OMIM:618493 {source="MONDO:equivalentTo"} xref: Orphanet:656273 {source="MONDO:equivalentObsolete"} xref: UMLS:C5193124 {source="MEDGEN:1672905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618493"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28858 {source="OMIM:618493"} [Term] id: MONDO:0032781 @@ -507437,6 +505646,7 @@ xref: OMIM:618495 {source="MONDO:equivalentTo"} xref: UMLS:C5193126 {source="MEDGEN:1682943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618495"} ! hereditary disease is_a: MONDO:0021094 {source="OMIM:618495"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6009 {source="OMIM:618495"} [Term] id: MONDO:0032783 @@ -507454,7 +505664,8 @@ xref: UMLS:C5193127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618496"} ! hereditary disease is_a: MONDO:0007194 {source="DOID:0080977", source="OMIM:618496"} ! familial bicuspid aortic valve intersection_of: MONDO:0003803 ! aortic valve disorder -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17985 ! ROBO4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17985 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17985 {source="OMIM:618496"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7412" xsd:anyURI [Term] @@ -507467,6 +505678,7 @@ xref: OMIM:618497 {source="MONDO:equivalentTo"} xref: UMLS:C5193128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678038"} is_a: MONDO:0003847 {source="OMIM:618497"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1389 {source="OMIM:618497"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -507484,6 +505696,7 @@ xref: Orphanet:93334 {source="OMIM:618498"} xref: UMLS:C5193129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676955"} is_a: MONDO:0003847 {source="OMIM:618498"} ! hereditary disease is_a: MONDO:0020927 {source="OMIM:618498"} ! postaxial polydactyly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28532 {source="OMIM:618498"} [Term] id: MONDO:0032786 @@ -507502,6 +505715,7 @@ xref: Orphanet:648 {source="OMIM:618499"} xref: UMLS:C5193130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681177"} is_a: MONDO:0003847 {source="OMIM:618499"} ! hereditary disease is_a: MONDO:0018997 {source="DOID:0112169", source="OMIM:618499"} ! Noonan syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7227 {source="OMIM:618499"} [Term] id: MONDO:0032787 @@ -507532,6 +505746,7 @@ xref: MEDGEN:1683734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618501 {source="MONDO:equivalentTo"} xref: UMLS:C5193132 {source="MEDGEN:1683734", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618501"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1400 {source="OMIM:618501"} [Term] id: MONDO:0032789 @@ -507548,6 +505763,7 @@ xref: OMIM:618504 {source="MONDO:equivalentTo"} xref: UMLS:C5193133 {source="MEDGEN:1673448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618504"} ! hereditary disease is_a: MONDO:0019502 {source="DOID:0081232", source="OMIM:618504"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25189 {source="OMIM:618504"} [Term] id: MONDO:0032790 @@ -507561,6 +505777,7 @@ xref: OMIM:618505 {source="MONDO:equivalentTo"} xref: UMLS:C5193134 {source="MEDGEN:1682403", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618505"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29012 {source="OMIM:618505"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -507578,6 +505795,7 @@ xref: OMIM:618506 {source="MONDO:equivalentTo"} xref: UMLS:C4760583 {source="MEDGEN:1683634", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618506"} ! hereditary disease is_a: MONDO:0015452 {source="DOID:0112371", source="OMIM:618506"} ! Coffin-Siris syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11200 {source="OMIM:618506"} [Term] id: MONDO:0032792 @@ -507597,7 +505815,8 @@ xref: UMLS:C5193137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618511"} ! hereditary disease is_a: MONDO:0015358 {source="https://orcid.org/0000-0002-6601-2165"} ! hereditary motor and sensory neuropathy intersection_of: MONDO:0019551 ! hereditary motor and sensory neuropathy type 6 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8819 ! PDXK +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8819 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8819 {source="OMIM:618511"} [Term] id: MONDO:0032793 @@ -507608,6 +505827,7 @@ xref: MEDGEN:1677602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618512 {source="MONDO:equivalentTo"} xref: UMLS:C5193138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677602"} is_a: MONDO:0003847 {source="OMIM:618512"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18541 {source="OMIM:618512"} [Term] id: MONDO:0032794 @@ -507626,6 +505846,7 @@ xref: UMLS:C5193139 {source="MEDGEN:1679297", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618513"} ! hereditary disease is_a: MONDO:0018998 {source="DOID:0081169", source="OMIM:618513"} ! Leber congenital amaurosis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20080 {source="OMIM:618513"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -507646,6 +505867,7 @@ xref: UMLS:C5193190 {source="MEDGEN:1678593", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618522"} ! hereditary disease is_a: MONDO:0015802 {source="OMIM:618522"} ! autosomal dominant non-syndromic intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032795 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1463 {source="OMIM:618522"} [Term] id: MONDO:0032796 @@ -507689,6 +505911,7 @@ xref: MEDGEN:1682428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618527 {source="MONDO:equivalentTo"} xref: UMLS:C5193147 {source="MEDGEN:1682428", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618527"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14418 {source="OMIM:618527"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -507720,6 +505943,7 @@ xref: Orphanet:1507 {source="OMIM:618529"} xref: UMLS:C5193143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676687"} is_a: MONDO:0003847 {source="OMIM:618529"} ! hereditary disease is_a: MONDO:0019978 {source="OMIM:618529"} ! Robinow syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18008 {source="OMIM:618529"} [Term] id: MONDO:0032801 @@ -507770,6 +505994,7 @@ xref: Orphanet:3261 {source="OMIM:618534"} xref: UMLS:C5231402 {source="MEDGEN:1684716", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618534"} ! hereditary disease is_a: MONDO:0021094 {source="OMIM:618534"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9878 {source="OMIM:618534"} [Term] id: MONDO:0032804 @@ -507787,6 +506012,7 @@ xref: Orphanet:248 {source="OMIM:618535"} xref: UMLS:C5193145 {source="MEDGEN:1680605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618535"} ! hereditary disease is_a: MONDO:0019287 {source="DOID:0111651", source="OMIM:618535"} ! ectodermal dysplasia syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2478 {source="OMIM:618535"} [Term] id: MONDO:0032805 @@ -507816,6 +506042,7 @@ xref: Orphanet:33364 {source="OMIM:618546"} xref: UMLS:C5231403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684762"} is_a: MONDO:0003847 {source="OMIM:618546"} ! hereditary disease is_a: MONDO:0018053 {source="OMIM:618546"} ! trichothiodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11572 {source="OMIM:618546"} [Term] id: MONDO:0032807 @@ -507851,8 +506078,8 @@ is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder is_a: MONDO:0100062 {source="OMIM:618548"} ! developmental and epileptic encephalopathy is_a: MONDO:0100247 {source="DOID:0112213", source="OMIM:618548"} ! multiple congenital anomalies-hypotonia-seizures syndrome intersection_of: MONDO:0100247 ! multiple congenital anomalies-hypotonia-seizures syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14135 ! PIGQ -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14135 {source="OMIM:618548"} ! PIGQ +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14135 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14135 {source="OMIM:618548"} [Term] id: MONDO:0032809 @@ -507864,6 +506091,7 @@ xref: OMIM:618549 {source="MONDO:equivalentTo"} xref: UMLS:C5231406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684882"} is_a: MONDO:0020573 {source="OMIM:618549"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618549", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5987 {source="OMIM:618549"} [Term] id: MONDO:0032810 @@ -507875,6 +506103,7 @@ xref: OMIM:618550 {source="MONDO:equivalentTo"} xref: UMLS:C5231407 {source="MEDGEN:1684736", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618550"} ! hereditary disease is_a: MONDO:0014769 {source="OMIM:618550"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8599 {source="OMIM:618550"} [Term] id: MONDO:0032811 @@ -507937,6 +506166,7 @@ xref: Orphanet:442835 {source="OMIM:618559"} xref: UMLS:C5231410 {source="MEDGEN:1684738", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618559"} ! hereditary disease is_a: MONDO:0100062 {source="DOID:0112215", source="OMIM:618559"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4079 {source="OMIM:618559"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -507972,6 +506202,7 @@ xref: OMIM:618567 {source="MONDO:equivalentTo"} xref: UMLS:C5231412 {source="MEDGEN:1684823", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618567"} ! hereditary disease is_a: MONDO:0018158 {source="DOID:0070448", source="OMIM:618567"} ! mitochondrial DNA depletion syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16352 {source="OMIM:618567"} [Term] id: MONDO:0032816 @@ -507987,6 +506218,7 @@ xref: Orphanet:528084 {source="OMIM:618569"} xref: UMLS:C5231413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684871"} is_a: MONDO:0003847 {source="OMIM:618569"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29204 {source="OMIM:618569"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -508000,6 +506232,7 @@ xref: OMIM:618571 {source="MONDO:equivalentTo"} xref: UMLS:C5231414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684661"} is_a: MONDO:0003847 {source="OMIM:618571"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24555 {source="OMIM:618571"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -508012,6 +506245,7 @@ xref: OMIM:618572 {source="MONDO:equivalentTo"} xref: UMLS:C5231415 {source="MEDGEN:1684815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618572"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26048 {source="OMIM:618572"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -508042,6 +506276,7 @@ is_a: MONDO:0000045 {source="OMIM:618573"} ! hypothyroidism, congenital, nongoit is_a: MONDO:0003847 {source="OMIM:618573"} ! hereditary disease is_a: MONDO:0016410 {source="Orphanet:99832"} ! central congenital hypothyroidism relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12299 {source="OMIM:618573"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5106" xsd:anyURI @@ -508059,6 +506294,7 @@ xref: Orphanet:659609 {source="MONDO:equivalentTo"} xref: UMLS:C5231416 {source="MEDGEN:1684725", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618577"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9803 {source="OMIM:618577"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -508094,7 +506330,7 @@ xref: UMLS:C5231418 {source="MEDGEN:1684779", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618580"} ! hereditary disease is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis is_a: MONDO:0100062 {source="DOID:0112216", source="OMIM:618580"} ! developmental and epileptic encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8959 {source="OMIM:618580"} ! PIGB +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8959 {source="OMIM:618580"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -508113,6 +506349,7 @@ xref: Orphanet:1942 {source="OMIM:618587"} xref: UMLS:C5231497 {source="MEDGEN:1684702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618587"} ! hereditary disease is_a: MONDO:0015802 {source="OMIM:618587"} ! autosomal dominant non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/564 {source="OMIM:618587"} [Term] id: MONDO:0032824 @@ -508126,6 +506363,7 @@ xref: OMIM:618590 {source="MONDO:equivalentTo"} xref: UMLS:C5231419 {source="MEDGEN:1684749", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618590"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032824 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15791 {source="OMIM:618590"} [Term] id: MONDO:0032826 @@ -508138,6 +506376,7 @@ xref: OMIM:618594 {source="MONDO:equivalentTo"} xref: UMLS:C5231498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684676"} is_a: MONDO:0002350 {source="DOID:0112267", source="OMIM:618594"} ! familial nephrotic syndrome is_a: MONDO:0003847 {source="OMIM:618594"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14188 {source="OMIM:618594"} [Term] id: MONDO:0032827 @@ -508176,6 +506415,7 @@ xref: UMLS:C5231423 {source="MEDGEN:1684818", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618603"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032829 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9187 {source="OMIM:618603"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -508192,6 +506432,7 @@ xref: OMIM:618604 {source="MONDO:equivalentTo"} xref: Orphanet:656135 {source="MONDO:equivalentTo"} xref: UMLS:C5231424 {source="MEDGEN:1684801", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618604"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9216 {source="OMIM:618604"} [Term] id: MONDO:0032831 @@ -508211,6 +506452,7 @@ xref: Orphanet:613267 {source="MONDO:equivalentTo"} xref: UMLS:C5231425 {source="MEDGEN:1684708", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618606"} ! hereditary disease is_a: MONDO:0020135 {source="DOID:0112332", source="OMIM:618606", source="Orphanet:613267"} ! pontocerebellar hypoplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1172 {source="OMIM:618606"} [Term] id: MONDO:0032832 @@ -508222,6 +506464,7 @@ xref: MEDGEN:1684881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618608 {source="MONDO:equivalentTo"} xref: UMLS:C5231426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684881"} is_a: MONDO:0003847 {source="OMIM:618608"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7878 {source="OMIM:618608"} [Term] id: MONDO:0032833 @@ -508234,6 +506477,7 @@ xref: Orphanet:93110 {source="OMIM:618612"} xref: UMLS:C5231427 {source="MEDGEN:1684849", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618612"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30988 {source="OMIM:618612"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -508252,6 +506496,7 @@ xref: Orphanet:791 {source="OMIM:618613"} xref: UMLS:C5231428 {source="MEDGEN:1684789", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618613"} ! hereditary disease is_a: MONDO:0019200 {source="DOID:0112143", source="OMIM:618613"} ! retinitis pigmentosa +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22219 {source="OMIM:618613"} [Term] id: MONDO:0032835 @@ -508269,6 +506514,7 @@ xref: Orphanet:163649 {source="OMIM:618618"} xref: UMLS:C4305147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930816"} is_a: MONDO:0003847 {source="OMIM:618618"} ! hereditary disease is_a: MONDO:0016761 {source="DOID:0112288", source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31527 {source="OMIM:618618"} [Term] id: MONDO:0032836 @@ -508284,6 +506530,7 @@ xref: OMIM:618619 {source="MONDO:equivalentTo"} xref: UMLS:C5231429 {source="MEDGEN:1684748", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618619"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032836 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21684 {source="OMIM:618619"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7641" xsd:anyURI property_value: IAO:0006012 "2024-08-01" xsd:string @@ -508300,6 +506547,7 @@ xref: OMIM:618620 {source="MONDO:equivalentTo"} xref: UMLS:C5231430 {source="MEDGEN:1704861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000816 {source="DOID:0080945", source="OMIM:618620"} ! abdominal obesity-metabolic syndrome is_a: MONDO:0003847 {source="OMIM:618620"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24609 {source="OMIM:618620"} [Term] id: MONDO:0032838 @@ -508311,6 +506559,7 @@ xref: OMIM:618622 {source="MONDO:equivalentTo"} xref: UMLS:C5231431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684840"} is_a: MONDO:0003847 {source="OMIM:618622"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32949 {source="OMIM:618622"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -508358,7 +506607,7 @@ xref: OMIM:618635 {source="MONDO:equivalentTo"} xref: UMLS:C5231435 {source="MEDGEN:1684813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618635"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032842 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16135 {source="OMIM:618635", source="https://search.clinicalgenome.org/kb/genes/HGNC:16135"} ! FITM2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16135 {source="OMIM:618635"} [Term] id: MONDO:0032843 @@ -508370,6 +506619,7 @@ xref: MEDGEN:1684701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618637 {source="MONDO:equivalentTo"} xref: UMLS:C5231436 {source="MEDGEN:1684701", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618637"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/51204 {source="OMIM:618637"} [Term] id: MONDO:0032844 @@ -508386,6 +506636,7 @@ xref: Orphanet:464724 {source="OMIM:618641"} xref: UMLS:C5231437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684678"} is_a: MONDO:0000023 {source="OMIM:618641"} ! infantile liver failure is_a: MONDO:0003847 {source="OMIM:618641"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21876 {source="OMIM:618641"} [Term] id: MONDO:0032845 @@ -508404,6 +506655,7 @@ xref: UMLS:C5231438 {source="MEDGEN:1684778", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618643"} ! hereditary disease is_a: MONDO:0004983 {source="DOID:0111926", source="OMIM:618643"} ! spermatogenic failure relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032845 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2946 {source="OMIM:618643"} [Term] id: MONDO:0032846 @@ -508418,6 +506670,7 @@ xref: OMIM:618644 {source="MONDO:equivalentTo"} xref: UMLS:C5231439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684751"} is_a: MONDO:0003847 {source="OMIM:618644"} ! hereditary disease is_a: MONDO:0019019 {source="DOID:0111849", source="OMIM:618644"} ! osteogenesis imperfecta +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13520 {source="OMIM:618644"} [Term] id: MONDO:0032848 @@ -508430,6 +506683,7 @@ xref: OMIM:618648 {source="MONDO:equivalentTo"} xref: UMLS:C5231441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684865"} is_a: MONDO:0003847 {source="OMIM:618648"} ! hereditary disease is_a: MONDO:0021094 {source="OMIM:618648"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6131 {source="OMIM:618648"} [Term] id: MONDO:0032849 @@ -508443,6 +506697,7 @@ xref: OMIM:618651 {source="MONDO:equivalentTo"} xref: UMLS:C5231442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684884"} is_a: MONDO:0003847 {source="OMIM:618651"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17052 {source="OMIM:618651"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -508456,6 +506711,7 @@ xref: MEDGEN:1684841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618652 {source="MONDO:equivalentTo"} xref: UMLS:C5231443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684841"} is_a: MONDO:0003847 {source="OMIM:618652"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31406 {source="OMIM:618652"} [Term] id: MONDO:0032851 @@ -508470,6 +506726,7 @@ xref: OMIM:618653 {source="MONDO:equivalentTo"} xref: Orphanet:528084 {source="OMIM:618653"} xref: UMLS:C5231444 {source="MEDGEN:1684804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618653"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2747 {source="OMIM:618653"} [Term] id: MONDO:0032852 @@ -508517,6 +506774,7 @@ xref: Orphanet:3473 {source="OMIM:618658"} xref: UMLS:C5231447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684740"} is_a: MONDO:0000200 {source="OMIM:618658"} ! Zimmermann-Laband syndrome is_a: MONDO:0003847 {source="OMIM:618658"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6292 {source="OMIM:618658"} [Term] id: MONDO:0032855 @@ -508532,6 +506790,7 @@ xref: Orphanet:528084 {source="OMIM:618659"} xref: UMLS:C5231448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684792"} is_a: MONDO:0003847 {source="OMIM:618659"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16493 {source="OMIM:618659"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -508547,6 +506806,7 @@ xref: Orphanet:1670 {source="OMIM:618662"} xref: UMLS:C5231449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684754"} is_a: MONDO:0000824 {source="OMIM:618662"} ! congenital diarrhea is_a: MONDO:0003847 {source="OMIM:618662"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/52293 {source="OMIM:618662"} [Term] id: MONDO:0032858 @@ -508582,6 +506842,7 @@ xref: Orphanet:276234 {source="OMIM:618664"} xref: UMLS:C5231451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684662"} is_a: MONDO:0003847 {source="OMIM:618664"} ! hereditary disease is_a: MONDO:0004983 {source="DOID:0111918", source="OMIM:618664"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25325 {source="OMIM:618664"} [Term] id: MONDO:0032860 @@ -508598,6 +506859,7 @@ xref: OMIM:618665 {source="MONDO:equivalentTo"} xref: UMLS:C5231452 {source="MEDGEN:1684805", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618665"} ! hereditary disease is_a: MONDO:0019502 {source="DOID:0080765", source="OMIM:618665"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25006 {source="OMIM:618665"} [Term] id: MONDO:0032862 @@ -508613,6 +506875,7 @@ xref: Orphanet:90030 {source="OMIM:618667"} xref: UMLS:C5231454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684770"} is_a: MONDO:0003847 {source="OMIM:618667"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32669 {source="OMIM:618667"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -508630,6 +506893,7 @@ xref: Orphanet:276234 {source="OMIM:618670"} xref: UMLS:C5231455 {source="MEDGEN:1684739", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618670"} ! hereditary disease is_a: MONDO:0004983 {source="DOID:0111912", source="OMIM:618670"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30726 {source="OMIM:618670"} [Term] id: MONDO:0032864 @@ -508640,6 +506904,7 @@ xref: MEDGEN:1684848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618672 {source="MONDO:equivalentTo"} xref: UMLS:C5231456 {source="MEDGEN:1684848", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618672"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7879 {source="OMIM:618672"} [Term] id: MONDO:0032865 @@ -508655,6 +506920,7 @@ xref: OMIM:618674 {source="MONDO:equivalentTo"} xref: UMLS:C5231457 {source="MEDGEN:1684878", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000148 {source="OMIM:618674"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related is_a: MONDO:0003847 {source="OMIM:618674"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25265 {source="OMIM:618674"} [Term] id: MONDO:0032866 @@ -508679,6 +506945,7 @@ xref: OMIM:618680 {source="MONDO:equivalentTo"} xref: UMLS:C5231459 {source="MEDGEN:1684838", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:618680"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618680", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18072 {source="OMIM:618680"} relationship: predisposes_towards MONDO:0009831 {source="OMIM:618680"} ! malignant pancreatic neoplasm [Term] @@ -508706,6 +506973,7 @@ xref: Orphanet:254913 {source="OMIM:618683"} xref: UMLS:C5231461 {source="MONDO:equivalentTo", source="MEDGEN:1684729", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618683"} ! hereditary disease is_a: MONDO:0014471 {source="DOID:0111749", source="OMIM:618683"} ! mitochondrial proton-transporting ATP synthase complex deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30889 {source="OMIM:618683"} [Term] id: MONDO:0032870 @@ -508721,6 +506989,7 @@ xref: OMIM:618687 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:618687"} xref: UMLS:C5231462 {source="MEDGEN:1684812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618687"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29112 {source="OMIM:618687"} [Term] id: MONDO:0032871 @@ -508736,6 +507005,7 @@ xref: OMIM:618688 {source="MONDO:equivalentTo"} xref: UMLS:C5231463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684698"} is_a: MONDO:0003847 {source="OMIM:618688"} ! hereditary disease is_a: MONDO:0019046 {source="DOID:0070400", source="OMIM:618688"} ! leukodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29118 {source="OMIM:618688"} [Term] id: MONDO:0032872 @@ -508756,6 +507026,7 @@ xref: UMLS:C5231464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618695"} ! hereditary disease is_a: MONDO:0016575 {source="DOID:0111855", source="OMIM:618695"} ! primary ciliary dyskinesia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032872 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/40050 {source="OMIM:618695"} [Term] id: MONDO:0032873 @@ -508774,7 +507045,6 @@ is_a: MONDO:0003847 {source="OMIM:618697"} ! hereditary disease is_a: MONDO:0019200 {source="OMIM:618697"} ! retinitis pigmentosa is_a: MONDO:0100452 {source="https://clinicalgenome.org/affiliation/40072/"} ! RPE65-related dominant retinopathy relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10294 {source="OMIM:618697"} ! RPE65 [Term] id: MONDO:0032874 @@ -508794,6 +507064,7 @@ xref: UMLS:C5231466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618699"} ! hereditary disease is_a: MONDO:0016575 {source="DOID:0111856", source="OMIM:618699"} ! primary ciliary dyskinesia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032874 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3816 {source="OMIM:618699"} [Term] id: MONDO:0032875 @@ -508804,6 +507075,7 @@ xref: MEDGEN:1684791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618702 {source="MONDO:equivalentTo"} xref: UMLS:C5231467 {source="MEDGEN:1684791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618702"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25787 {source="OMIM:618702"} [Term] id: MONDO:0032876 @@ -508816,6 +507088,7 @@ xref: OMIM:618707 {source="MONDO:equivalentTo"} xref: UMLS:C5231469 {source="MEDGEN:1684803", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618707"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12732 {source="OMIM:618707"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -508829,6 +507102,7 @@ xref: OMIM:618709 {source="MONDO:equivalentTo"} xref: UMLS:C5231470 {source="MEDGEN:1684757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618709"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2908 {source="OMIM:618709"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -508841,6 +507115,7 @@ xref: OMIM:618718 {source="MONDO:equivalentTo"} xref: UMLS:C5231471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684663"} is_a: MONDO:0003847 {source="OMIM:618718"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14288 {source="OMIM:618718"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -508853,6 +507128,7 @@ xref: MEDGEN:1684806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618719 {source="MONDO:equivalentTo"} xref: UMLS:C5231472 {source="MONDO:equivalentTo", source="MEDGEN:1684806", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618719"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16067 {source="OMIM:618719"} [Term] id: MONDO:0032880 @@ -508873,6 +507149,7 @@ xref: OMIM:618721 {source="MONDO:equivalentTo"} xref: UMLS:C5231473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684694"} is_a: MONDO:0003847 {source="OMIM:618721"} ! hereditary disease is_a: MONDO:0100062 {source="DOID:0080715", source="OMIM:618721"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4433 {source="OMIM:618721"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -508891,6 +507168,7 @@ xref: Orphanet:243 {source="OMIM:618723"} xref: UMLS:C5231474 {source="MEDGEN:1684679", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618723"} ! hereditary disease is_a: MONDO:0019852 {source="OMIM:618723"} ! inherited primary ovarian failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1081 {source="OMIM:618723"} [Term] id: MONDO:0032882 @@ -508920,6 +507198,7 @@ xref: MEDGEN:1684850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618725 {source="MONDO:equivalentTo"} xref: UMLS:C5231476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684850"} is_a: MONDO:0003847 {source="OMIM:618725"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24156 {source="OMIM:618725"} [Term] id: MONDO:0032884 @@ -508932,6 +507211,7 @@ xref: MEDGEN:1684719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618727 {source="MONDO:equivalentTo"} xref: UMLS:C5231477 {source="MEDGEN:1684719", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618727"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/667 {source="OMIM:618727"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -508947,6 +507227,7 @@ xref: OMIM:618728 {source="MONDO:equivalentTo"} xref: UMLS:C5231478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684771"} is_a: MONDO:0003847 {source="OMIM:618728"} ! hereditary disease is_a: MONDO:0100510 {source="PMID:23956136", source="https://orcid.org/0000-0002-0587-4693"} ! spondyloepimetaphyseal dysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10303 {source="OMIM:618728"} [Term] id: MONDO:0032886 @@ -508975,6 +507256,7 @@ xref: OMIM:618730 {source="MONDO:equivalentTo"} xref: UMLS:C5231480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684695"} is_a: MONDO:0003847 {source="OMIM:618730"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30739 {source="OMIM:618730"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -509003,6 +507285,7 @@ xref: UMLS:C5231482 {source="MONDO:equivalentTo", source="MEDGEN:1684718", sourc is_a: MONDO:0003847 {source="OMIM:618732"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032889 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2460 {source="OMIM:618732"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -509015,6 +507298,7 @@ xref: MEDGEN:1684689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618733 {source="MONDO:equivalentTo"} xref: UMLS:C5231483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684689"} is_a: MONDO:0003847 {source="OMIM:618733"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2739 {source="OMIM:618733"} [Term] id: MONDO:0032891 @@ -509055,6 +507339,7 @@ xref: MEDGEN:1684879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618737 {source="MONDO:equivalentTo"} xref: UMLS:C5231486 {source="MEDGEN:1684879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618737"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18599 {source="OMIM:618737"} [Term] id: MONDO:0032894 @@ -509067,6 +507352,7 @@ xref: OMIM:618741 {source="MONDO:equivalentTo"} xref: UMLS:C5394027 {source="MEDGEN:1717952", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618741"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19943 {source="OMIM:618741"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -509088,6 +507374,7 @@ xref: OMIM:618744 {source="MONDO:equivalentTo"} xref: UMLS:C5231487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684784"} is_a: MONDO:0003847 {source="OMIM:618744"} ! hereditary disease is_a: MONDO:0100062 {source="DOID:0112218", source="OMIM:618744"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12527 {source="OMIM:618744"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -509105,6 +507392,7 @@ xref: OMIM:618745 {source="MONDO:equivalentTo"} xref: UMLS:C5231488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684744"} is_a: MONDO:0003847 {source="OMIM:618745"} ! hereditary disease is_a: MONDO:0004983 {source="DOID:0111923", source="OMIM:618745"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29936 {source="OMIM:618745"} [Term] id: MONDO:0032897 @@ -509116,6 +507404,7 @@ xref: MEDGEN:1684709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618748 {source="MONDO:equivalentTo"} xref: UMLS:C5231489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684709"} is_a: MONDO:0003847 {source="OMIM:618748"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1779 {source="OMIM:618748"} [Term] id: MONDO:0032898 @@ -509132,6 +507421,7 @@ xref: OMIM:618751 {source="MONDO:equivalentTo"} xref: UMLS:C5231490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684830"} is_a: MONDO:0003847 {source="OMIM:618751"} ! hereditary disease is_a: MONDO:0004983 {source="DOID:0111917", source="OMIM:618751"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26293 {source="OMIM:618751"} [Term] id: MONDO:0032899 @@ -509151,6 +507441,7 @@ xref: OMIM:618752 {source="MONDO:equivalentTo"} xref: UMLS:C5203411 {source="MEDGEN:1684816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618752"} ! hereditary disease is_a: MONDO:0018542 {source="OMIM:618752"} ! severe congenital neutropenia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11301 {source="OMIM:618752"} [Term] id: MONDO:0032900 @@ -509163,6 +507454,7 @@ xref: OMIM:618760 {source="MONDO:equivalentTo"} xref: UMLS:C5231491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684874"} is_a: MONDO:0003847 {source="OMIM:618760"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12643 {source="OMIM:618760"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -509176,6 +507468,7 @@ xref: MEDGEN:1684686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618761 {source="MONDO:equivalentTo"} xref: UMLS:C5231492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684686"} is_a: MONDO:0003847 {source="OMIM:618761"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17686 {source="OMIM:618761"} [Term] id: MONDO:0032902 @@ -509192,6 +507485,7 @@ xref: OMIM:618763 {source="MONDO:equivalentTo"} xref: UMLS:C5231493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684786"} is_a: MONDO:0003847 {source="OMIM:618763"} ! hereditary disease is_a: MONDO:0018772 {source="OMIM:618763"} ! Joubert syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29162 {source="OMIM:618763"} [Term] id: MONDO:0032903 @@ -509210,7 +507504,8 @@ xref: UMLS:C5231494 {source="MEDGEN:1684706", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618766"} ! hereditary disease is_a: MONDO:0015168 {source="DOID:0080980", source="OMIM:618766"} ! arthrogryposis multiplex congenita intersection_of: MONDO:0015168 ! arthrogryposis multiplex congenita -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19286 ! SCYL2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19286 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19286 {source="OMIM:618766"} [Term] id: MONDO:0032904 @@ -509229,6 +507524,7 @@ xref: Orphanet:98954 xref: UMLS:C5231495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684798"} is_a: MONDO:0003847 {source="OMIM:618767"} ! hereditary disease is_a: MONDO:0007379 {source="DOID:0080671", source="OMIM:618767"} ! Meesmann corneal dystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6440 {source="OMIM:618767"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -509244,6 +507540,7 @@ xref: OMIM:618768 {source="MONDO:equivalentTo"} xref: UMLS:C5394033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711668"} is_a: MONDO:0003847 {source="OMIM:618768"} ! hereditary disease is_a: MONDO:0019064 {source="OMIM:618768"} ! hereditary spastic paraplegia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29361 {source="OMIM:618768"} [Term] id: MONDO:0032906 @@ -509264,6 +507561,7 @@ xref: Orphanet:631073 {source="MONDO:equivalentTo"} xref: UMLS:C5394037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710411"} is_a: MONDO:0003847 {source="OMIM:618770"} ! hereditary disease is_a: MONDO:0019064 {source="DOID:0112343", source="OMIM:618770"} ! hereditary spastic paraplegia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8756 {source="OMIM:618770"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7469" xsd:anyURI @@ -509281,6 +507579,7 @@ xref: OMIM:618773 {source="MONDO:equivalentTo"} xref: UMLS:C5231496 {source="MEDGEN:1684767", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618773"} ! hereditary disease is_a: MONDO:0019313 {source="OMIM:618773"} ! lymphatic malformation +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16709 {source="OMIM:618773"} [Term] id: MONDO:0032908 @@ -509311,6 +507610,7 @@ xref: OMIM:618775 {source="MONDO:equivalentTo"} xref: UMLS:C5394051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1719382"} is_a: MONDO:0003847 {source="OMIM:618775"} ! hereditary disease is_a: MONDO:0020811 {source="OMIM:618775"} ! mitochondrial complex III deficiency, nuclear type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12587 {source="OMIM:618775"} [Term] id: MONDO:0032910 @@ -509328,7 +507628,8 @@ xref: UMLS:C5394053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease is_a: MONDO:0100223 {source="DOID:0112091", source="OMIM:618224", source="OMIM:618776"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33551 ! NDUFAF8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33551 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33551 {source="OMIM:618776"} [Term] id: MONDO:0032911 @@ -509366,6 +507667,7 @@ xref: OMIM:618779 {source="MONDO:equivalentTo"} xref: UMLS:C5241442 {source="MEDGEN:1717402", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618779"} ! hereditary disease is_a: MONDO:0015452 {source="DOID:0112372", source="OMIM:618779"} ! Coffin-Siris syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11106 {source="OMIM:618779"} [Term] id: MONDO:0032913 @@ -509399,6 +507701,7 @@ xref: OMIM:618781 {source="MONDO:equivalentTo"} xref: UMLS:C5394063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1716408"} is_a: MONDO:0003847 {source="OMIM:618781"} ! hereditary disease is_a: MONDO:0016575 {source="DOID:0111851", source="OMIM:618781"} ! primary ciliary dyskinesia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18592 {source="OMIM:618781"} [Term] id: MONDO:0032915 @@ -509433,6 +507736,7 @@ xref: OMIM:618786 {source="MONDO:equivalentTo"} xref: Orphanet:659463 {source="MONDO:equivalentTo"} xref: UMLS:C5394073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711007"} is_a: MONDO:0003847 {source="OMIM:618786"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17101 {source="OMIM:618786"} [Term] id: MONDO:0032917 @@ -509451,6 +507755,7 @@ xref: OMIM:618787 {source="MONDO:equivalentTo"} xref: UMLS:C5394080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710038"} is_a: MONDO:0003847 {source="OMIM:618787"} ! hereditary disease is_a: MONDO:0019587 {source="DOID:0112167", source="OMIM:618787"} ! autosomal dominant nonsyndromic hearing loss +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9090 {source="OMIM:618787"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -509475,6 +507780,7 @@ xref: OMIM:618792 {source="MONDO:equivalentTo"} xref: UMLS:C5394081 {source="MEDGEN:1720141", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618792"} ! hereditary disease is_a: MONDO:0100062 {source="DOID:0112219", source="OMIM:618792"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12525 {source="OMIM:618792"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -509492,6 +507798,7 @@ xref: OMIM:618793 {source="MONDO:equivalentTo"} xref: UMLS:C5394083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712636"} is_a: MONDO:0003847 {source="OMIM:618793"} ! hereditary disease is_a: MONDO:0015802 {source="OMIM:618793"} ! autosomal dominant non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2903 {source="OMIM:618793"} [Term] id: MONDO:0032920 @@ -509504,6 +507811,7 @@ synonym: "JUVENILE ARTHRITIS" RELATED [OMIM:618795] xref: GARD:16382 {source="MONDO:GARD"} xref: OMIM:618795 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618795"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26789 {source="OMIM:618795"} [Term] id: MONDO:0032921 @@ -509516,6 +507824,7 @@ xref: OMIM:618797 {source="MONDO:equivalentTo"} xref: UMLS:C5394091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1716098"} is_a: MONDO:0003847 {source="OMIM:618797"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17770 {source="OMIM:618797"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -509528,6 +507837,7 @@ xref: MEDGEN:1711894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618798 {source="MONDO:equivalentTo"} xref: UMLS:C5394097 {source="MONDO:equivalentTo", source="MEDGEN:1711894", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618798"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28313 {source="OMIM:618798"} [Term] id: MONDO:0032923 @@ -509544,6 +507854,7 @@ xref: OMIM:618800 {source="MONDO:equivalentTo"} xref: UMLS:C5394101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712568"} is_a: MONDO:0003847 {source="OMIM:618800"} ! hereditary disease is_a: MONDO:0015244 {source="DOID:0070409", source="OMIM:618800"} ! autosomal recessive cerebellar ataxia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26053 {source="OMIM:618800"} [Term] id: MONDO:0032924 @@ -509562,6 +507873,7 @@ xref: OMIM:618801 {source="MONDO:equivalentTo"} xref: UMLS:C5394104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1714988"} is_a: MONDO:0003847 {source="OMIM:618801"} ! hereditary disease is_a: MONDO:0016575 {source="DOID:0111857", source="OMIM:618801"} ! primary ciliary dyskinesia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23700 {source="OMIM:618801"} [Term] id: MONDO:0032925 @@ -509587,6 +507899,7 @@ xref: MEDGEN:1718072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618804 {source="MONDO:equivalentTo"} xref: UMLS:C5394118 {source="MEDGEN:1718072", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618804"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17859 {source="OMIM:618804"} [Term] id: MONDO:0032927 @@ -509598,6 +507911,7 @@ xref: MEDGEN:1710207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618805 {source="MONDO:equivalentTo"} xref: UMLS:C5394125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710207"} is_a: MONDO:0003847 {source="OMIM:618805"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24552 {source="OMIM:618805"} [Term] id: MONDO:0032928 @@ -509620,6 +507934,7 @@ xref: MEDGEN:1711370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618808 {source="MONDO:equivalentTo"} xref: UMLS:C5394135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711370"} is_a: MONDO:0003847 {source="OMIM:618808"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32 {source="OMIM:618808"} [Term] id: MONDO:0032931 @@ -509658,6 +507973,7 @@ xref: OMIM:618811 {source="MONDO:equivalentTo"} xref: UMLS:C5394140 {source="MEDGEN:1713890", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618811"} ! hereditary disease is_a: MONDO:0018158 {source="DOID:0070449", source="OMIM:618811"} ! mitochondrial DNA depletion syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14411 {source="OMIM:618811"} [Term] id: MONDO:0032933 @@ -509694,6 +508010,7 @@ xref: OMIM:618820 {source="MONDO:equivalentTo"} xref: UMLS:C5394158 {source="MEDGEN:1720440", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618820"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0032934 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7618 {source="OMIM:618820"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7762" xsd:anyURI @@ -509707,6 +508024,7 @@ xref: MEDGEN:1720321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618821 {source="MONDO:equivalentTo"} xref: UMLS:C5394173 {source="MEDGEN:1720321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618821"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25123 {source="OMIM:618821"} [Term] id: MONDO:0032936 @@ -509753,6 +508071,7 @@ xref: UMLS:C5394199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:618824"} ! hereditary disease is_a: MONDO:0008947 {source="OMIM:618824"} ! bilateral striopallidodentate calcinosis relationship: has_characteristic MONDO:0700005 ! idiopathic +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14686 {source="OMIM:618824"} [Term] id: MONDO:0032939 @@ -509798,6 +508117,7 @@ xref: OMIM:618827 {source="MONDO:equivalentTo"} xref: UMLS:C5394215 {source="MEDGEN:1719756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001384 {source="OMIM:618827"} ! myopia is_a: MONDO:0003847 {source="OMIM:618827"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2324 {source="OMIM:618827"} [Term] id: MONDO:0032942 @@ -509857,10 +508177,10 @@ is_a: MONDO:0009889 {source="DOID:0080212"} ! autosomal recessive polycystic kid is_a: MONDO:0020642 {source="OMIM:263200"} ! polycystic kidney disease intersection_of: MONDO:0020642 ! polycystic kidney disease intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9016 ! PKHD1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9016 relationship: excluded_subClassOf MONDO:0004691 {source="DOID:0080212", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant polycystic kidney disease relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9016 {source="MONDO:mim2gene_medgen"} ! PKHD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9016 {source="OMIM:263200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -509887,6 +508207,7 @@ xref: Orphanet:2065 {source="OMIM:251300"} xref: UMLS:C4551772 {source="MEDGEN:1634188", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009627 {source="DOID:0060364", source="OMIM:251300"} ! Galloway-Mowat syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:251300"} ! Autosomal recessive inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25928 {source="OMIM:251300"} [Term] id: MONDO:0033006 @@ -509906,6 +508227,7 @@ xref: OMIM:301006 {source="DOID:0080244", source="MONDO:equivalentTo"} xref: Orphanet:2065 {source="OMIM:301006"} xref: UMLS:C4538784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1625619"} is_a: MONDO:0009627 {source="DOID:0080244", source="OMIM:301006"} ! Galloway-Mowat syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26058 {source="OMIM:301006"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -509923,6 +508245,7 @@ xref: OMIM:617729 {source="MONDO:equivalentTo", source="DOID:0080245"} xref: Orphanet:2065 {source="OMIM:617729"} xref: UMLS:C4540266 {source="MEDGEN:1627611", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009627 {source="DOID:0080245", source="OMIM:617729"} ! Galloway-Mowat syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18028 {source="OMIM:617729"} [Term] id: MONDO:0033008 @@ -509939,6 +508262,7 @@ xref: OMIM:617730 {source="DOID:0080246", source="MONDO:equivalentTo"} xref: Orphanet:2065 {source="OMIM:617730"} xref: UMLS:C4540270 {source="MEDGEN:1613511", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009627 {source="DOID:0080246", source="OMIM:617730"} ! Galloway-Mowat syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16197 {source="OMIM:617730"} [Term] id: MONDO:0033009 @@ -509955,6 +508279,7 @@ xref: OMIM:617731 {source="MONDO:equivalentTo", source="DOID:0080247"} xref: Orphanet:2065 {source="OMIM:617731"} xref: UMLS:C4540274 {source="MEDGEN:1617227", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009627 {source="DOID:0080247", source="OMIM:617731"} ! Galloway-Mowat syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24259 {source="OMIM:617731"} [Term] id: MONDO:0033010 @@ -509995,6 +508320,7 @@ xref: OMIM:617524 {source="MONDO:equivalentTo", source="DOID:0080248"} xref: Orphanet:317 {source="OMIM:617524"} xref: UMLS:C4479618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1379712"} is_a: MONDO:0017851 {source="DOID:0080248", source="OMIM:617524"} ! erythrokeratodermia variabilis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4286 {source="OMIM:617524"} [Term] id: MONDO:0033013 @@ -510031,6 +508357,7 @@ xref: Orphanet:317 {source="OMIM:617526"} xref: UMLS:C4479620 {source="MEDGEN:1372799", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017851 {source="DOID:0080250", source="OMIM:617526"} ! erythrokeratodermia variabilis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0033014 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4021 {source="OMIM:617526"} [Term] id: MONDO:0033015 @@ -510070,7 +508397,7 @@ is_a: MONDO:0017845 {source="DOID:0080252", source="OMIM:617560"} ! spastic atax is_a: MONDO:0017847 {source="Orphanet:527497"} ! autosomal recessive spastic ataxia is_a: MONDO:0019046 {source="Orphanet:527497"} ! leukodystrophy relationship: has_characteristic HP:0000007 {source="Orphanet:527497"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19321 {source="Orphanet:527497"} ! NKX6-2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19321 {source="OMIM:617560"} [Term] id: MONDO:0033044 @@ -510117,6 +508444,7 @@ xref: MEDGEN:1390366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617564 {source="DOID:0080255", source="MONDO:equivalentTo"} xref: UMLS:C4479655 {source="MEDGEN:1390366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016817 {source="DOID:0080255", source="OMIM:617564"} ! Meier-Gorlin syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6948 {source="OMIM:617564"} [Term] id: MONDO:0033047 @@ -510133,6 +508461,7 @@ xref: OMIM:617565 {source="MONDO:equivalentTo", source="DOID:0080256"} xref: Orphanet:2855 {source="OMIM:617565"} xref: UMLS:C4479656 {source="MONDO:equivalentTo", source="MEDGEN:1391447", source="MONDO:MEDGEN"} is_a: MONDO:0017312 {source="DOID:0080256", source="OMIM:617565"} ! Perrault syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3424 {source="OMIM:617565"} [Term] id: MONDO:0033056 @@ -510159,6 +508488,7 @@ xref: OMIM:617571 {source="MONDO:equivalentTo", source="DOID:0080258"} xref: Orphanet:313 {source="MONDO:relatedTo", source="OMIM:617571"} xref: UMLS:C4539754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1620129"} is_a: MONDO:0017265 {source="DOID:0080258", source="OMIM:617571"} ! autosomal recessive congenital ichthyosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11459 {source="OMIM:617571"} [Term] id: MONDO:0033092 @@ -510174,6 +508504,7 @@ xref: MEDGEN:1620886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617574 {source="DOID:0080257", source="MONDO:equivalentTo"} xref: UMLS:C4539772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1620886"} is_a: MONDO:0017265 {source="DOID:0080257", source="OMIM:617574"} ! autosomal recessive congenital ichthyosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29958 {source="OMIM:617574"} [Term] id: MONDO:0033115 @@ -510191,6 +508522,7 @@ xref: OMIM:617584 {source="MONDO:equivalentTo", source="DOID:0080259"} xref: UMLS:C4539808 {source="MONDO:equivalentTo", source="MEDGEN:1618081", source="MONDO:MEDGEN"} is_a: MONDO:0015244 {source="DOID:0080259", source="OMIM:617584"} ! autosomal recessive cerebellar ataxia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0033115 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/589 {source="OMIM:617584"} [Term] id: MONDO:0033116 @@ -510206,6 +508538,7 @@ xref: MEDGEN:1617917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617633 {source="MONDO:equivalentTo", source="DOID:0080260"} xref: UMLS:C4539948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1617917"} is_a: MONDO:0015244 {source="DOID:0080260", source="OMIM:617633"} ! autosomal recessive cerebellar ataxia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12828 {source="OMIM:617633"} [Term] id: MONDO:0033123 @@ -510247,7 +508580,7 @@ is_a: MONDO:0000001 {source="Orphanet:476394"} ! disease is_a: MONDO:0000426 {source="DOID:0111560"} ! autosomal dominant disease is_a: MONDO:0015626 {source="OMIM:618279"} ! Charcot-Marie-Tooth disease relationship: has_characteristic HP:0000006 {source="Orphanet:476394"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9117 {source="Orphanet:476394"} ! PMP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9117 {source="OMIM:618279"} [Term] id: MONDO:0033169 @@ -510298,6 +508631,7 @@ xref: OMIM:617637 {source="DOID:0080261", source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:617637"} xref: UMLS:C4539954 {source="MEDGEN:1627111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DOID:0080261", source="OMIM:617637"} ! hearing loss, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21296 {source="OMIM:617637"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -510317,6 +508651,7 @@ xref: OMIM:617639 {source="DOID:0080262", source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:617639"} xref: UMLS:C4539964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1622558"} is_a: MONDO:0019588 {source="DOID:0080262", source="OMIM:617639"} ! hearing loss, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12738 {source="OMIM:617639"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -510336,6 +508671,7 @@ xref: OMIM:617654 {source="DOID:0080263", source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:617654"} xref: UMLS:C4539997 {source="MEDGEN:1627841", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019588 {source="DOID:0080263", source="OMIM:617654"} ! hearing loss, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10256 {source="OMIM:617654"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -510370,6 +508706,7 @@ xref: MEDGEN:1633308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618013 {source="MONDO:equivalentTo"} xref: UMLS:C4693935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633308"} is_a: MONDO:0019588 {source="DOID:0111639", source="OMIM:618013"} ! hearing loss, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25966 {source="OMIM:618013"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -510397,7 +508734,8 @@ is_a: MONDO:0005377 {source="MONDO:0019987-obsoleted", source="https://github.co is_a: MONDO:0018117 {source="Orphanet:506334"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: MONDO:0044765 ! steroid-resistant nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10817 ! SGPL1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10817 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10817 {source="OMIM:617575"} [Term] id: MONDO:0033204 @@ -510463,6 +508801,7 @@ xref: OMIM:617606 {source="DOID:0080268", source="MONDO:equivalentTo"} xref: Orphanet:90635 {source="OMIM:617606"} xref: UMLS:C4539886 {source="MONDO:equivalentTo", source="MEDGEN:1614203", source="MONDO:MEDGEN"} is_a: MONDO:0019587 {source="DOID:0080268", source="OMIM:617606"} ! autosomal dominant nonsyndromic hearing loss +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13941 {source="OMIM:617606"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -510513,7 +508852,8 @@ xref: OMIM:617609 {source="MONDO:equivalentTo", source="DOID:0080271"} xref: UMLS:C4539896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1620414"} is_a: MONDO:0002350 {source="DOID:0080271", source="OMIM:617609"} ! familial nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18957 ! MAGI2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18957 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18957 {source="OMIM:617609"} [Term] id: MONDO:0033280 @@ -510550,9 +508890,10 @@ is_a: MONDO:0009889 {source="DOID:0080273"} ! autosomal recessive polycystic kid is_a: MONDO:0020642 {source="OMIM:617610"} ! polycystic kidney disease intersection_of: MONDO:0020642 ! polycystic kidney disease intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26551 ! DZIP1L +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26551 relationship: excluded_subClassOf MONDO:0004691 {source="DOID:0080273", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant polycystic kidney disease relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26551 {source="OMIM:617610"} [Term] id: MONDO:0033282 @@ -510572,6 +508913,7 @@ xref: Orphanet:569274 {source="MONDO:equivalentTo"} xref: UMLS:C4539919 {source="MEDGEN:1623132", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004069 {source="DOID:0080274", source="MONDO:indirect"} ! inborn mitochondrial metabolism disorder is_a: MONDO:0017338 {source="DOID:0080274", source="OMIM:617613", source="Orphanet:569274"} ! fatal multiple mitochondrial dysfunctions syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28660 {source="OMIM:617613"} [Term] id: MONDO:0033304 @@ -510604,6 +508946,7 @@ xref: Orphanet:475 {source="OMIM:617622"} xref: UMLS:C4539937 {source="MEDGEN:1613861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018772 {source="DOID:0080275", source="OMIM:617622"} ! Joubert syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0033308 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20730 {source="OMIM:617622"} [Term] id: MONDO:0033309 @@ -510648,6 +508991,7 @@ xref: MEDGEN:1615779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617767 {source="DOID:0080279", source="MONDO:equivalentTo"} xref: UMLS:C4540389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1615779"} is_a: MONDO:0018772 {source="DOID:0080279", source="OMIM:617767"} ! Joubert syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23352 {source="OMIM:617767"} [Term] id: MONDO:0033312 @@ -510661,6 +509005,7 @@ xref: MEDGEN:1613937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617629 {source="MONDO:equivalentTo", source="DOID:0080281"} xref: UMLS:C4539944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1613937"} is_a: MONDO:0005090 {source="DOID:0080281"} ! schizophrenia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9898 {source="OMIM:617629"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -510783,6 +509128,7 @@ xref: OMIM:617391 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:617391"} xref: UMLS:C4479319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1392637"} is_a: MONDO:0100062 {source="DOID:0080418", source="OMIM:617391"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5048 {source="OMIM:617391"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -510805,7 +509151,7 @@ xref: Orphanet:1934 {source="OMIM:617599"} xref: UMLS:C4539843 {source="MEDGEN:1622363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis is_a: MONDO:0100062 {source="DOID:0080283", source="OMIM:617599"} ! developmental and epileptic encephalopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3046 {source="OMIM:617599"} ! PIGP +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3046 {source="OMIM:617599"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -510824,6 +509170,7 @@ xref: MEDGEN:1621755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617665 {source="MONDO:equivalentTo", source="DOID:0080282"} xref: UMLS:C4540034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621755"} is_a: MONDO:0100062 {source="DOID:0080282", source="OMIM:617665"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12852 {source="OMIM:617665"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -510842,6 +509189,7 @@ xref: MEDGEN:1621769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617771 {source="DOID:0080284", source="MONDO:equivalentTo"} xref: UMLS:C4540411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621769"} is_a: MONDO:0100062 {source="DOID:0080284", source="OMIM:617771"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18866 {source="OMIM:617771"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -510898,6 +509246,7 @@ xref: MEDGEN:1638894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617929 {source="MONDO:equivalentTo"} xref: UMLS:C4693663 {source="MEDGEN:1638894", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100062 {source="DOID:0080432", source="OMIM:617929"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11968 {source="OMIM:617929"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -510915,6 +509264,7 @@ xref: MEDGEN:1639392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617933 {source="MONDO:equivalentTo"} xref: UMLS:C4693688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639392"} is_a: MONDO:0100062 {source="DOID:0080434", source="OMIM:617933"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/201 {source="OMIM:617933"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -510950,6 +509300,7 @@ xref: MEDGEN:1646846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617976 {source="MONDO:equivalentTo"} xref: UMLS:C4693810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646846"} is_a: MONDO:0100062 {source="DOID:0080426", source="OMIM:617976"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2309 {source="OMIM:617976"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -510967,6 +509318,7 @@ xref: MEDGEN:1633501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618004 {source="MONDO:equivalentTo"} xref: UMLS:C4693899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633501"} is_a: MONDO:0100062 {source="DOID:0070375", source="OMIM:618004"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18756 {source="OMIM:618004"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -510986,6 +509338,7 @@ xref: MEDGEN:1634676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618008 {source="MONDO:equivalentTo"} xref: UMLS:C4693925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634676"} is_a: MONDO:0100062 {source="DOID:0080430", source="OMIM:618008"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13760 {source="OMIM:618008"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511043,6 +509396,7 @@ is_a: MONDO:0000437 {source="OMIM:617769"} ! cerebellar ataxia is_a: MONDO:0019793 {source="Orphanet:589527"} ! autosomal dominant cerebellar ataxia type III is_a: MONDO:0020380 {source="DOID:0080287", source="MONDO:Redundant", source="OMIM:617769"} ! autosomal dominant cerebellar ataxia relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3596 {source="OMIM:617769"} [Term] id: MONDO:0033481 @@ -511065,6 +509419,7 @@ is_a: MONDO:0000437 {source="OMIM:617770"} ! cerebellar ataxia is_a: MONDO:0019792 {source="Orphanet:589522"} ! autosomal dominant cerebellar ataxia type I is_a: MONDO:0020380 {source="DOID:0080288", source="MONDO:Redundant", source="OMIM:617770"} ! autosomal dominant cerebellar ataxia relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17158 {source="OMIM:617770"} [Term] id: MONDO:0033482 @@ -511119,6 +509474,7 @@ xref: MEDGEN:1635837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617895 {source="DOID:0080295", source="MONDO:equivalentTo"} xref: UMLS:C4693524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1635837"} is_a: MONDO:0018770 {source="DOID:0080295", source="OMIM:617895"} ! Jeune syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14313 {source="OMIM:617895"} [Term] id: MONDO:0033486 @@ -511135,6 +509491,7 @@ xref: MEDGEN:1635255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617899 {source="DOID:0080296", source="MONDO:equivalentTo"} xref: UMLS:C4693535 {source="MEDGEN:1635255", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019046 {source="DOID:0080296", source="DOID:0080296/inferred", source="OMIM:617899"} ! leukodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20597 {source="OMIM:617899"} [Term] id: MONDO:0033492 @@ -511156,7 +509513,7 @@ xref: UMLS:C4540499 {source="MEDGEN:1615540", source="MONDO:equivalentTo", sourc is_a: MONDO:0015802 {source="DOID:0080297", source="OMIM:617808"} ! autosomal dominant non-syndromic intellectual disability is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18037 {source="OMIM:617808", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! ARID2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18037 {source="OMIM:617808"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI [Term] @@ -511188,6 +509545,7 @@ xref: MEDGEN:1738652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618950 {source="MONDO:equivalentTo"} xref: UMLS:C5436458 {source="MEDGEN:1738652", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15859 {source="OMIM:618950"} [Term] id: MONDO:0033533 @@ -511203,6 +509561,7 @@ xref: OMIM:618951 {source="MONDO:equivalentTo"} xref: UMLS:C5436461 {source="MEDGEN:1731010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0112113", source="OMIM:618951"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10378 {source="OMIM:618951"} [Term] id: MONDO:0033534 @@ -511219,6 +509578,7 @@ xref: OMIM:618952 {source="MONDO:equivalentTo"} xref: UMLS:C5436466 {source="MEDGEN:1752252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0112115", source="OMIM:618952"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14509 {source="OMIM:618952"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511235,6 +509595,7 @@ xref: OMIM:618958 {source="MONDO:equivalentTo"} xref: UMLS:C5436476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1775535"} is_a: MONDO:0000732 {source="DOID:0112114", source="OMIM:618958"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14513 {source="OMIM:618958"} [Term] id: MONDO:0033541 @@ -511265,6 +509626,7 @@ xref: OMIM:618969 {source="MONDO:equivalentTo"} xref: UMLS:C5436501 {source="MEDGEN:1740270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0021094 {source="OMIM:618969"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16951 {source="OMIM:618969"} [Term] id: MONDO:0033543 @@ -511277,6 +509639,7 @@ xref: OMIM:618970 {source="MONDO:equivalentTo"} xref: UMLS:C5436505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1773574"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17283 {source="OMIM:618970"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -511294,6 +509657,7 @@ xref: MEDGEN:1724999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618971 {source="MONDO:equivalentTo"} xref: UMLS:C5436509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1724999"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16421 {source="OMIM:618971"} [Term] id: MONDO:0033545 @@ -511310,6 +509674,7 @@ xref: OMIM:618972 {source="MONDO:equivalentTo"} xref: UMLS:C5436514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1770258"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018158 {source="DOID:0070450", source="OMIM:618972"} ! mitochondrial DNA depletion syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10980 {source="OMIM:618972"} [Term] id: MONDO:0033546 @@ -511338,6 +509703,7 @@ xref: MEDGEN:1763263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618974 {source="MONDO:equivalentTo"} xref: UMLS:C5436525 {source="MEDGEN:1763263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17933 {source="OMIM:618974"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511356,6 +509722,7 @@ xref: UMLS:C5436530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019952 {source="DOID:0081349", source="OMIM:618975"} ! congenital myopathy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7611 {source="OMIM:618975"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -511394,6 +509761,7 @@ xref: OMIM:618982 {source="MONDO:equivalentTo"} xref: UMLS:C5436540 {source="MEDGEN:1749856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0021094 {source="OMIM:618982"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4862 {source="OMIM:618982"} [Term] id: MONDO:0033552 @@ -511405,6 +509773,7 @@ synonym: "LE" RELATED ABBREVIATION [OMIM:618983] synonym: "Lewis Blood Group System" RELATED [OMIM:618983] synonym: "Lewis-Negative Phenotype" RELATED [OMIM:618983] xref: OMIM:618983 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4014 {source="OMIM:618983"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -511487,6 +509856,7 @@ xref: OMIM:618998 {source="MONDO:equivalentTo"} xref: UMLS:C5436563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1736944"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015541 {source="OMIM:618998"} ! hereditary hemophagocytic lymphohistiocytosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29434 {source="OMIM:618998"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511500,6 +509870,7 @@ xref: MEDGEN:1750270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618999 {source="MONDO:equivalentTo"} xref: UMLS:C5436572 {source="MEDGEN:1750270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6190 {source="OMIM:618999"} [Term] id: MONDO:0033559 @@ -511514,6 +509885,7 @@ xref: MEDGEN:1740295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619000 {source="MONDO:equivalentTo"} xref: UMLS:C5436574 {source="MEDGEN:1740295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29187 {source="OMIM:619000"} [Term] id: MONDO:0033560 @@ -511529,6 +509901,7 @@ xref: MEDGEN:1745427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619003 {source="MONDO:equivalentTo"} xref: UMLS:C5436576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1745427"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7696 {source="OMIM:619003"} [Term] id: MONDO:0033561 @@ -511575,6 +509948,7 @@ xref: OMIM:619007 {source="MONDO:equivalentTo"} xref: UMLS:C5436588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1733837"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019200 {source="DOID:0112147", source="OMIM:619007"} ! retinitis pigmentosa +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5384 {source="OMIM:619007"} [Term] id: MONDO:0033564 @@ -511590,6 +509964,7 @@ xref: OMIM:619009 {source="MONDO:equivalentTo"} xref: UMLS:C5436597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1776094"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0014769 {source="OMIM:619009"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13862 {source="OMIM:619009"} [Term] id: MONDO:0033565 @@ -511620,6 +509995,7 @@ xref: OMIM:619012 {source="MONDO:equivalentTo"} xref: UMLS:C5436602 {source="MEDGEN:1732052", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0112112", source="OMIM:619012"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26208 {source="OMIM:619012"} [Term] id: MONDO:0033569 @@ -511632,6 +510008,7 @@ xref: MEDGEN:1762338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619024 {source="MONDO:equivalentTo"} xref: UMLS:C5436616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1762338"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17920 {source="OMIM:619024"} [Term] id: MONDO:0033570 @@ -511644,6 +510021,7 @@ xref: MEDGEN:1753519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619025 {source="MONDO:equivalentTo"} xref: UMLS:C5436623 {source="MEDGEN:1753519", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14511 {source="OMIM:619025"} [Term] id: MONDO:0033571 @@ -511653,6 +510031,7 @@ synonym: "Skeletal muscle glycogen content and metabolism QTL" EXACT [OMIM:61903 synonym: "SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS" RELATED [OMIM:619030] synonym: "SMGMQTL" RELATED ABBREVIATION [OMIM:619030] xref: OMIM:619030 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9387 {source="OMIM:619030"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2260" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -511671,7 +510050,6 @@ xref: OMIM:619031 {source="MONDO:equivalentTo"} xref: UMLS:C5436646 {source="MEDGEN:1759589", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100559 {source="https://clinicalgenome.org/affiliation/40135/"} ! ALG14-congenital disorder of glycosylation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 {source="OMIM:619031"} ! ALG14 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7389" xsd:anyURI [Term] @@ -511738,7 +510116,8 @@ xref: UMLS:C5436638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018151 {source="DOID:0112138", source="OMIM:619028"} ! coenzyme Q10 deficiency intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28722 ! COQ5 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28722 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28722 {source="OMIM:619028"} [Term] id: MONDO:0033618 @@ -511763,7 +510142,6 @@ xref: OMIM:619036 {source="MONDO:equivalentTo"} xref: UMLS:C5436652 {source="MEDGEN:1759100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100559 {source="https://clinicalgenome.org/affiliation/40135/"} ! ALG14-congenital disorder of glycosylation -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 {source="OMIM:619036"} ! ALG14 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7389" xsd:anyURI [Term] @@ -511780,7 +510158,8 @@ xref: UMLS:C5436656 {source="MEDGEN:1769385", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018943 {source="DOID:0112108", source="OMIM:619040"} ! myofibrillar myopathy intersection_of: MONDO:0018943 ! myofibrillar myopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11480 ! SVIL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11480 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11480 {source="OMIM:619040"} [Term] id: MONDO:0033621 @@ -511805,7 +510184,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0004983 {source="DOID:0112109", source="OMIM:619044"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28514 ! CEP112 -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28514 ! CEP112 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28514 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28514 {source="OMIM:619044"} [Term] id: MONDO:0033630 @@ -511836,7 +510216,8 @@ xref: UMLS:C5436703 {source="MEDGEN:1757992", source="MONDO:equivalentTo", sourc is_a: MONDO:0000732 {source="DOID:0112137", source="OMIM:619057"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24717 ! PTCD3 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24717 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24717 {source="OMIM:619057"} [Term] id: MONDO:0033635 @@ -511853,6 +510234,7 @@ xref: OMIM:619046 {source="MONDO:equivalentTo"} xref: UMLS:C5436682 {source="MEDGEN:1764816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619046"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2260 {source="OMIM:619046"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511870,6 +510252,7 @@ xref: OMIM:619048 {source="MONDO:equivalentTo"} xref: UMLS:C5436683 {source="MEDGEN:1748100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619048"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10603 {source="OMIM:619048"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511887,6 +510270,7 @@ xref: OMIM:619051 {source="MONDO:equivalentTo"} xref: UMLS:C5436685 {source="MEDGEN:1754683", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619051"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2280 {source="OMIM:619051"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511904,6 +510288,7 @@ xref: OMIM:619052 {source="MONDO:equivalentTo"} xref: UMLS:C5436689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1765544"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619052"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24316 {source="OMIM:619052"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511921,6 +510306,7 @@ xref: OMIM:619053 {source="MONDO:equivalentTo"} xref: UMLS:C5436692 {source="MEDGEN:1746545", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619053"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28216 {source="OMIM:619053"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511935,6 +510321,7 @@ xref: OMIM:619073 {source="MONDO:equivalentTo"} xref: UMLS:C5436733 {source="MONDO:equivalentTo", source="MEDGEN:1725534", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0024299 {source="OMIM:619073"} ! vitamin D-dependent rickets +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2637 {source="OMIM:619073"} [Term] id: MONDO:0033641 @@ -511944,6 +510331,7 @@ xref: MEDGEN:1765503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619074 {source="MONDO:equivalentTo"} xref: UMLS:C5436739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1765503"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4161 {source="OMIM:619074"} [Term] id: MONDO:0033642 @@ -511965,6 +510353,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder is_a: MONDO:0800159 {source="PMID:33340416"} ! disorder of polyamine metabolism relationship: excluded_subClassOf MONDO:0017356 {source="Orphanet:544488", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of ornithine metabolism +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8109 {source="OMIM:619075"} relationship: RO:0004001 http://identifiers.org/hgnc/8109 {source="Orphanet:544488"} ! has material basis in gain of function germline mutation in ODC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -511984,7 +510373,8 @@ xref: UMLS:C5436750 {source="MEDGEN:1737985", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005265 {source="DOID:0112154", source="OMIM:619079"} ! inflammatory bowel disease intersection_of: MONDO:0005265 ! inflammatory bowel disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17057 ! CARD8 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17057 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17057 {source="OMIM:619079"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511998,6 +510388,7 @@ xref: MEDGEN:1755099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619082 {source="MONDO:equivalentTo"} xref: UMLS:C5436769 {source="MEDGEN:1755099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/693 {source="OMIM:619082"} [Term] id: MONDO:0033645 @@ -512014,6 +510405,7 @@ xref: OMIM:619054 {source="MONDO:equivalentTo"} xref: UMLS:C5436694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1760275"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619054"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26970 {source="OMIM:619054"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512031,6 +510423,7 @@ xref: OMIM:619055 {source="MONDO:equivalentTo"} xref: UMLS:C5436695 {source="MEDGEN:1745691", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619055"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/40038 {source="OMIM:619055"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512048,6 +510441,7 @@ xref: OMIM:619058 {source="MONDO:equivalentTo"} xref: UMLS:C5436710 {source="MEDGEN:1763505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619058"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24990 {source="OMIM:619058"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512065,6 +510459,7 @@ xref: OMIM:619059 {source="MONDO:equivalentTo"} xref: UMLS:C5436712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1773430"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619059"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2294 {source="OMIM:619059"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512082,6 +510477,7 @@ xref: OMIM:619060 {source="MONDO:equivalentTo"} xref: UMLS:C5436714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1762514"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619060"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2265 {source="OMIM:619060"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512099,6 +510495,7 @@ xref: OMIM:619061 {source="MONDO:equivalentTo"} xref: UMLS:C5436718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1730423"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619061"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20492 {source="OMIM:619061"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512116,6 +510513,7 @@ xref: OMIM:619062 {source="MONDO:equivalentTo"} xref: UMLS:C5436720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1752734"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619062"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2279 {source="OMIM:619062"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512133,6 +510531,7 @@ xref: OMIM:619063 {source="MONDO:equivalentTo"} xref: UMLS:C5436723 {source="MEDGEN:1729504", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619063"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/40045 {source="OMIM:619063"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512150,6 +510549,7 @@ xref: OMIM:619064 {source="MONDO:equivalentTo"} xref: UMLS:C5436726 {source="MEDGEN:1771040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619064"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2267 {source="OMIM:619064"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512167,6 +510567,7 @@ xref: OMIM:619065 {source="MONDO:equivalentTo"} xref: UMLS:C5436727 {source="MEDGEN:1732562", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619065"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7687 {source="OMIM:619065"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512182,6 +510583,7 @@ xref: OMIM:619071 {source="MONDO:equivalentTo"} xref: UMLS:C5436730 {source="MEDGEN:1765130", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019046 {source="DOID:0112153", source="OMIM:619071"} ! leukodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2158 {source="OMIM:619071"} [Term] id: MONDO:0033658 @@ -512195,6 +510597,7 @@ xref: OMIM:619072 {source="MONDO:equivalentTo"} xref: UMLS:C5436732 {source="MONDO:equivalentTo", source="MEDGEN:1748227", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23214 {source="OMIM:619072"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -512209,6 +510612,7 @@ xref: OMIM:619076 {source="MONDO:equivalentTo"} xref: UMLS:C5436747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1755716"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24659 {source="OMIM:619076"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -512269,6 +510673,7 @@ xref: OMIM:619086 {source="MONDO:equivalentTo"} xref: UMLS:C5436772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1735338"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019587 {source="DOID:0112160", source="OMIM:619086"} ! autosomal dominant nonsyndromic hearing loss +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21088 {source="OMIM:619086"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -512287,6 +510692,7 @@ xref: OMIM:619087 {source="MONDO:equivalentTo"} xref: UMLS:C5436773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1761918"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018997 {source="DOID:0112161", source="OMIM:619087"} ! Noonan syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6871 {source="OMIM:619087"} [Term] id: MONDO:0033670 @@ -512303,6 +510709,7 @@ xref: OMIM:619093 {source="MONDO:equivalentTo"} xref: UMLS:C5436789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1726617"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019588 {source="DOID:0112162", source="OMIM:619093"} ! hearing loss, autosomal recessive +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2051 {source="OMIM:619093"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -512317,6 +510724,7 @@ xref: OMIM:619094 {source="MONDO:equivalentTo"} xref: UMLS:C5436791 {source="MEDGEN:1776221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004983 {source="DOID:0112163", source="OMIM:619094"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2948 {source="OMIM:619094"} [Term] id: MONDO:0033672 @@ -512351,6 +510759,7 @@ xref: UMLS:C5436799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004983 {source="DOID:0112164", source="OMIM:619095"} ! spermatogenic failure relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0033673 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2952 {source="OMIM:619095"} [Term] id: MONDO:0033682 @@ -512367,7 +510776,6 @@ xref: UMLS:C5567899 {source="MONDO:equivalentTo", source="MEDGEN:1799322", sourc is_a: MONDO:0015159 {source="Orphanet:508533"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015708 {source="Orphanet:508533"} ! immuno-osseous dysplasia is_a: MONDO:0019694 {source="Orphanet:508533"} ! spondylodysplastic dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3518 {source="Orphanet:508533"} ! EXTL3 [Term] id: MONDO:0033683 @@ -512389,7 +510797,6 @@ is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019453 {source="Orphanet:508542"} ! myelodysplastic syndrome with multilineage dysplasia relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29401 {source="Orphanet:508542"} ! MYSM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -512409,7 +510816,6 @@ is_a: MONDO:0020043 {source="Orphanet:512260"} ! autosomal recessive congenital intersection_of: MONDO:0020043 ! autosomal recessive congenital cerebellar ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19380 ! RNU12 relationship: has_characteristic HP:0000007 {source="Orphanet:512260"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19380 {source="Orphanet:512260"} ! RNU12 [Term] id: MONDO:0033809 @@ -512546,7 +510952,6 @@ xref: Orphanet:521411 {source="MONDO:equivalentTo"} xref: UMLS:C5569051 {source="MEDGEN:1800474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017762 {source="Orphanet:521411"} ! disorder of copper metabolism relationship: has_characteristic HP:0000007 {source="Orphanet:521411"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10604 {source="Orphanet:521411"} ! SCO2 [Term] id: MONDO:0033853 @@ -512565,7 +510970,6 @@ is_a: MONDO:0000001 {source="Orphanet:521432"} ! disease is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2649 {source="Orphanet:521432"} ! CYP51A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI @@ -512588,7 +510992,6 @@ xref: UMLS:C5681442 {source="MEDGEN:1806009", source="MONDO:equivalentTo", sourc is_a: MONDO:0000001 {source="Orphanet:521450"} ! disease is_a: MONDO:0005554 {source="Orphanet:521450"} ! rheumatic disorder relationship: has_characteristic HP:0000006 {source="Orphanet:521450"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6485 {source="Orphanet:521450"} ! LAMA5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3601" xsd:anyURI [Term] @@ -512624,7 +511027,7 @@ xref: UMLS:C4748715 {source="MEDGEN:1648431", source="MONDO:equivalentTo", sourc is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0005395 {source="MONDO:0044636-obsoleted"} ! movement disorder relationship: disease_has_feature HP:0000486 ! Strabismus -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11509 {source="Orphanet:522077"} ! SYT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11509 {source="OMIM:618218"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -512742,7 +511145,6 @@ xref: Orphanet:91378 {source="OMIM:106100"} xref: UMLS:C4552294 {source="MEDGEN:1812520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019623 {source="DC-OMIM:106100", source="DOID:0080939", source="OMIM:106100", source="Orphanet:528623"} ! hereditary angioedema relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0033946 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1228 {source="MONDO:mim2gene_medgen"} ! SERPING1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512904,7 +511306,6 @@ is_a: MONDO:0019950 {source="Orphanet:536516"} ! congenital muscular dystrophy is_a: MONDO:0020066 {source="OMIM:616471", source="Orphanet:536516"} ! Ehlers-Danlos syndrome intersection_of: MONDO:0008029 ! Bethlem myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2188 ! COL12A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2188 {source="MONDO:mim2gene_medgen", source="Orphanet:536516"} ! COL12A1 [Term] id: MONDO:0034024 @@ -512977,8 +511378,8 @@ xref: Orphanet:538958 {source="MONDO:equivalentTo"} xref: UMLS:C5568559 {source="MONDO:equivalentTo", source="MEDGEN:1799982", source="MONDO:MEDGEN"} is_a: MONDO:0016537 {source="OMIM:618261", source="Orphanet:538958", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoproliferative syndrome intersection_of: MONDO:0015974 ! severe combined immunodeficiency -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11937 ! CD70 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11937 {source="Orphanet:538958"} ! CD70 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11937 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11937 {source="OMIM:618261"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -513003,7 +511404,6 @@ is_a: MONDO:0000001 {source="Orphanet:543470"} ! disease is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy is_a: MONDO:0044970 ! mitochondrial disease relationship: has_characteristic HP:0000007 {source="Orphanet:543470"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3642 {source="Orphanet:543470"} ! FDXR [Term] id: MONDO:0034099 @@ -513019,7 +511419,6 @@ xref: MEDGEN:1810512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:544254 {source="MONDO:equivalentTo"} xref: UMLS:C5680163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1810512"} is_a: MONDO:0020071 {source="Orphanet:544254"} ! infantile epilepsy syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11497 {source="Orphanet:544254"} ! SYNGAP1 [Term] id: MONDO:0034103 @@ -513069,6 +511468,7 @@ is_a: MONDO:0015653 {source="Orphanet:544503"} ! monogenic epilepsy is_a: MONDO:0100062 {source="DOID:0112209", source="OMIM:618379", source="https://orcid.org/0000-0002-6601-2165"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 {source="https://orcid.org/0000-0002-6601-2165"} ! developmental and epileptic encephalopathy intersection_of: RO:0004001 http://identifiers.org/hgnc/10057 {source="https://orcid.org/0000-0002-6601-2165"} ! has material basis in gain of function germline mutation in RNF13 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10057 {source="OMIM:618379"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -513091,6 +511491,7 @@ is_a: MONDO:0006025 {source="DOID:0081346"} ! autosomal recessive disease is_a: MONDO:0019952 {source="DOID:0081346", source="OMIM:618414", source="Orphanet:544602"} ! congenital myopathy relationship: has_characteristic HP:0000007 {source="Orphanet:544602"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7582 {source="OMIM:618414"} relationship: RO:0004001 http://identifiers.org/hgnc/7582 {source="Orphanet:544602"} ! has material basis in gain of function germline mutation in MYL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -513129,7 +511530,7 @@ is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabo is_a: MONDO:0024237 {source="Orphanet:555402"} ! inherited neurodegenerative disorder relationship: disease_has_basis_in_disruption_of GO:0047453 ! ATP-dependent NAD(P)H-hydrate dehydratase activity relationship: has_characteristic HP:0000007 {source="Orphanet:555402"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25576 {source="Orphanet:555402"} ! NAXD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25576 {source="OMIM:618321"} [Term] id: MONDO:0034122 @@ -513205,6 +511606,7 @@ is_a: MONDO:0005308 {source="Orphanet:557003"} ! ciliopathy is_a: MONDO:0015159 {source="Orphanet:557003"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: disease_has_feature HP:0004348 {source="Orphanet:557003"} ! Abnormality of bone mineral density relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:557003", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8971 {source="OMIM:618440"} [Term] id: MONDO:0034146 @@ -513222,7 +511624,6 @@ is_a: MONDO:0017847 {source="Orphanet:557056", source="PMID:30970188"} ! autosom is_a: MONDO:0019052 {source="Orphanet:557056", source="PMID:30970188"} ! inborn errors of metabolism is_a: MONDO:0600001 {source="Orphanet:557056", source="PMID:30970188"} ! glutaminase deficiency relationship: excluded_subClassOf MONDO:0017352 {source="Orphanet:557056", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of glutamine metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4331 {source="Orphanet:557056", source="PMID:30970188"} ! GLS [Term] id: MONDO:0034147 @@ -513330,7 +511731,6 @@ is_a: MONDO:0000001 {source="Orphanet:566231"} ! disease intersection_of: MONDO:0001328 ! thyroid hormone resistance syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11796 ! THRA relationship: has_characteristic MONDO:0021140 ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11796 {source="https://orcid.org/0000-0002-6601-2165"} ! THRA [Term] id: MONDO:0034217 @@ -513523,7 +511923,6 @@ xref: MEDGEN:1800190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:508476 {source="MONDO:equivalentTo"} xref: UMLS:C5568767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800190"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5321 ! HYAL2 [Term] id: MONDO:0034823 @@ -513542,7 +511941,6 @@ synonym: "orofaciodigital syndrome type 18" EXACT [Orphanet:508501] xref: GARD:22069 {source="MONDO:GARD"} xref: Orphanet:508501 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17367 ! IFT57 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7582" xsd:anyURI property_value: IAO:0006012 "2024-07-01" xsd:string @@ -513966,7 +512364,6 @@ xref: MEDGEN:1830117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:521445 {source="MONDO:equivalentTo"} xref: UMLS:C5681443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830117"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14632 ! ADAMTSL1 [Term] id: MONDO:0035037 @@ -514002,7 +512399,6 @@ xref: MEDGEN:1811530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:527468 {source="MONDO:equivalentTo"} xref: UMLS:C5681454 {source="MEDGEN:1811530", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4978 ! HLX [Term] id: MONDO:0035112 @@ -514112,6 +512508,7 @@ is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder is_a: MONDO:0015159 {source="Orphanet:589905"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0035133 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:589905", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15673 {source="OMIM:617991"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4803" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -514218,7 +512615,6 @@ xref: MEDGEN:1842194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:530303 {source="MONDO:equivalentTo"} xref: UMLS:C5680143 {source="MEDGEN:1842194", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001627 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! dementia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8943 ! SERPINI1 [Term] id: MONDO:0035162 @@ -514266,7 +512662,6 @@ xref: Orphanet:537072 {source="MONDO:equivalentTo"} xref: UMLS:C5680155 {source="MEDGEN:1843266", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0019623 {source="PMID:28795768", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0009-0001-6494-4831"} ! hereditary angioedema -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9071 ! PLG property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -514507,7 +512902,6 @@ xref: MEDGEN:1842560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:556030 {source="MONDO:equivalentTo"} xref: UMLS:C5680171 {source="MEDGEN:1842560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018541 {source="Orphanet:556030", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! familial hypoaldosteronism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2592 ! CYP11B2 [Term] id: MONDO:0035321 @@ -514923,7 +513317,6 @@ xref: Orphanet:565612 {source="MONDO:equivalentTo"} xref: SCTID:1279844009 {source="https://orcid.org/0009-0002-1597-2198", source="MONDO:equivalentTo"} xref: UMLS:C5680124 {source="MEDGEN:1830096", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015611 {source="Orphanet:565612", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neutral lipid storage disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30802 ! PNPLA2 [Term] id: MONDO:0035426 @@ -515010,7 +513403,6 @@ xref: UMLS:C5680129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder is_a: MONDO:0100241 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited thrombocytopenia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4036 ! FYB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -515030,7 +513422,6 @@ xref: Orphanet:566393 {source="MONDO:equivalentTo"} xref: UMLS:C5680128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843106"} is_a: MONDO:0007950 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mastocytosis relationship: has_characteristic PATO:0000389 ! acute -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6342 ! KIT [Term] id: MONDO:0035445 @@ -515047,7 +513438,6 @@ xref: MEDGEN:1843226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:566396 {source="MONDO:equivalentTo"} xref: UMLS:C5680130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843226"} is_a: MONDO:0007950 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mastocytosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6342 ! KIT [Term] id: MONDO:0035447 @@ -515151,7 +513541,6 @@ synonym: "Hoffman syndrome" EXACT [Orphanet:567502] xref: GARD:22284 {source="MONDO:GARD"} xref: Orphanet:567502 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11990 ! TOP2B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7847" xsd:anyURI property_value: IAO:0006012 "2024-09-01" xsd:string @@ -515168,7 +513557,6 @@ xref: MEDGEN:1842472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:567550 {source="MONDO:equivalentTo"} xref: UMLS:C5681293 {source="MEDGEN:1842472", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018170 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! idiopathic nephrotic syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18143 {source="Orphanet:567550"} ! DAAM2 [Term] id: MONDO:0035460 @@ -515339,7 +513727,6 @@ xref: MEDGEN:1804948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:569821 {source="MONDO:equivalentTo"} xref: UMLS:C5680138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804948"} is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! primary lymphedema -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12682 {source="Orphanet:569821"} ! VEGFC [Term] id: MONDO:0035511 @@ -515386,7 +513773,6 @@ xref: MEDGEN:1843155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:572354 {source="MONDO:equivalentTo"} xref: UMLS:C5680365 {source="MEDGEN:1843155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0007201 {source="Orphanet:572354", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1092 {source="Orphanet:572354"} ! FOXL2 [Term] id: MONDO:0035525 @@ -515403,7 +513789,6 @@ xref: MEDGEN:1842581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:572361 {source="MONDO:equivalentTo"} xref: UMLS:C5680363 {source="MEDGEN:1842581", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0007201 {source="Orphanet:572361", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1092 {source="Orphanet:572361"} ! FOXL2 [Term] id: MONDO:0035529 @@ -515421,7 +513806,6 @@ xref: MEDGEN:1810375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:572428 {source="MONDO:equivalentTo"} xref: UMLS:C5680364 {source="MEDGEN:1810375", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! respiratory system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8086 ! OAS1 [Term] id: MONDO:0035534 @@ -515493,7 +513877,6 @@ xref: MEDGEN:1830105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:574957 {source="MONDO:equivalentTo"} xref: UMLS:C5680361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830105"} is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6190 ! JAK1 [Term] id: MONDO:0035551 @@ -515511,7 +513894,6 @@ xref: MEDGEN:1804103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:575553 {source="MONDO:equivalentTo"} xref: UMLS:C5680354 {source="MEDGEN:1804103", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011057 {source="https://orcid.org/0000-0001-5208-3432"} ! cerebrovascular disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9251 ! CTSA [Term] id: MONDO:0035554 @@ -515668,7 +514050,6 @@ xref: UMLS:C5567889 {source="MEDGEN:1799312", source="MONDO:equivalentTo", sourc is_a: MONDO:0005429 {source="https://orcid.org/0000-0002-4142-7153"} ! prion disease is_a: MONDO:0018926 {source="https://orcid.org/0000-0002-4142-7153"} ! human prion disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9449 ! PRNP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6671" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -515695,7 +514076,6 @@ xref: Orphanet:589534 {source="MONDO:equivalentTo"} xref: UMLS:C2826037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414807"} is_a: MONDO:0020743 {source="Orphanet:589534", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mixed phenotype acute leukemia relationship: has_characteristic PATO:0000389 ! acute -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3765 {source="Orphanet:589534"} ! FLT3 [Term] id: MONDO:0035642 @@ -515714,7 +514094,6 @@ xref: Orphanet:589595 {source="MONDO:equivalentTo"} xref: UMLS:C2826048 {source="MEDGEN:443130", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020743 {source="NCIT:C82203", source="Orphanet:589595", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mixed phenotype acute leukemia relationship: has_characteristic PATO:0000389 ! acute -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3765 {source="Orphanet:589595"} ! FLT3 [Term] id: MONDO:0035645 @@ -515745,7 +514124,6 @@ xref: UMLS:C5680305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0008056 {source="Orphanet:589821"} ! myotonic dystrophy type 1 is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! myotonic dystrophy relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2933 ! DMPK [Term] id: MONDO:0035647 @@ -515825,7 +514203,6 @@ xref: MEDGEN:1830104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:589856 {source="MONDO:equivalentTo"} xref: UMLS:C5680310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830104"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7133 ! KMT2D [Term] id: MONDO:0035660 @@ -515842,7 +514219,6 @@ xref: MEDGEN:1830103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:592564 {source="MONDO:equivalentTo"} xref: UMLS:C5680303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830103"} is_a: MONDO:0003847 {source="Orphanet:592564"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4389 ! GNAO1 [Term] id: MONDO:0035661 @@ -515858,7 +514234,6 @@ xref: MEDGEN:1809140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:592570 {source="MONDO:equivalentTo"} xref: UMLS:C5681633 {source="MONDO:equivalentTo", source="MEDGEN:1809140", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20456 ! TRAF7 [Term] id: MONDO:0035663 @@ -516352,7 +514727,6 @@ xref: MEDGEN:1842499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:600663 {source="MONDO:equivalentTo"} xref: UMLS:C5681528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842499"} is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8008 ! NRXN1 [Term] id: MONDO:0035775 @@ -516367,7 +514741,6 @@ xref: MEDGEN:1842919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:600668 {source="MONDO:equivalentTo"} xref: UMLS:C5681527 {source="MEDGEN:1842919", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1596 ! CCNK [Term] id: MONDO:0035776 @@ -516556,6 +514929,7 @@ xref: OMIM:619273 {source="Orphanet:603448", source="MONDO:equivalentTo\""} xref: Orphanet:603448 {source="MONDO:equivalentTo"} xref: UMLS:C5543287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780242"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13488 {source="OMIM:619273"} [Term] id: MONDO:0035821 @@ -516585,7 +514959,6 @@ xref: MEDGEN:1842955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:603689 {source="MONDO:equivalentTo"} xref: UMLS:C5680210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842955"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15646 ! KLHL7 [Term] id: MONDO:0035824 @@ -516888,6 +515261,7 @@ xref: Orphanet:611201 {source="MONDO:equivalentTo"} xref: UMLS:C5543355 {source="MEDGEN:1779113", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0003847 {source="OMIM:619318"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11182 {source="OMIM:619318"} [Term] id: MONDO:0036192 @@ -516914,6 +515288,7 @@ xref: Orphanet:611237 {source="MONDO:equivalentTo"} xref: UMLS:C5543299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1783451"} is_a: MONDO:0003847 {source="OMIM:619279"} ! hereditary disease is_a: MONDO:0021095 {source="OMIM:619279"} ! parkinsonian disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12585 {source="OMIM:619279"} [Term] id: MONDO:0036212 @@ -518001,6 +516376,7 @@ xref: Orphanet:88616 {source="OMIM:617816"} xref: UMLS:C4540521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1628197"} is_a: MONDO:0019502 {source="DOID:0081223", source="OMIM:617816"} ! autosomal recessive non-syndromic intellectual disability relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8960 {source="OMIM:617816"} [Term] id: MONDO:0040501 @@ -518033,6 +516409,7 @@ xref: OMIM:617825 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="OMIM:617825"} xref: UMLS:C4540522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1614419"} is_a: MONDO:0008733 {source="OMIM:617825"} ! familial glucocorticoid deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18155 {source="OMIM:617825"} [Term] id: MONDO:0040503 @@ -518052,8 +516429,8 @@ xref: OMIM:617681 {source="MONDO:equivalentTo", source="DOID:0080346"} xref: UMLS:C4540127 {source="MEDGEN:1623594", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0007339 {source="DOID:0080346", source="OMIM:617681"} ! blepharocheilodontic syndrome intersection_of: MONDO:0007339 ! blepharocheilodontic syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2515 ! CTNND1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2515 {source="MONDO:mim2gene_medgen"} ! CTNND1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2515 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2515 {source="OMIM:617681"} [Term] id: MONDO:0040566 @@ -519227,7 +517604,6 @@ intersection_of: MONDO:0018542 ! severe congenital neutropenia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3309 ! ELANE relationship: has_characteristic HP:0000006 {source="Orphanet:486"} ! Autosomal dominant inheritance relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3309 ! ELANE property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -519469,7 +517845,6 @@ synonym: "Y chromosome infertility" RELATED [GARD:0000185] synonym: "Y chromosome microdeletions" RELATED [GARD:0000185] xref: HGNC:2682 {source="MONDO:otherHierarchy", source="GARD:0000185"} is_a: MONDO:0005372 {source="https://orcid.org/0000-0001-5208-3432"} ! male infertility -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2682 ! DAZ1 [Term] id: MONDO:0042705 @@ -521819,6 +520194,7 @@ xref: UMLS:C1850000 {source="MEDGEN:342386", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004805 {source="MESH:C564893"} ! leukocyte disorder is_a: MONDO:0006025 ! autosomal recessive disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3423 {source="OMIM:261500"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -523814,7 +522190,6 @@ xref: OMIM:260400 {source="MONDO:equivalentTo"} xref: Orphanet:811 {source="OMIM:260400"} xref: UMLS:C4692625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640046"} is_a: MONDO:0009833 {source="OMIM:260400"} ! Shwachman-Diamond syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19440 {source="MONDO:mim2gene_medgen"} ! SBDS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -523831,6 +522206,7 @@ xref: MEDGEN:1634617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617941 {source="MONDO:equivalentTo"} xref: UMLS:C4693704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634617"} is_a: MONDO:0009833 {source="OMIM:617941"} ! Shwachman-Diamond syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25789 {source="OMIM:617941"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -523876,7 +522252,6 @@ xref: UMLS:C4551556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0009506 {source="MONDO:Redundant", source="OMIM:245480"} ! specific granule deficiency intersection_of: MONDO:0009506 ! specific granule deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1836 ! CEBPE -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1836 {source="MONDO:mim2gene_medgen"} ! CEBPE property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -523893,6 +522268,7 @@ xref: OMIM:617475 {source="MONDO:equivalentTo"} xref: Orphanet:169142 {source="OMIM:617475"} xref: UMLS:C4479548 {source="MEDGEN:1371952", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009506 {source="OMIM:617475"} ! specific granule deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11107 {source="OMIM:617475"} [Term] id: MONDO:0044209 @@ -524316,6 +522692,7 @@ synonym: "ptc tasting" RELATED [OMIM:171200] synonym: "THIOT" RELATED ABBREVIATION [OMIM:171200] synonym: "thiourea tasting" RELATED [OMIM:171200] xref: OMIM:171200 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9584 {source="OMIM:171200"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -524581,6 +522958,7 @@ synonym: "body MASS index quantitative trait locus 9" RELATED [OMIM:602025] synonym: "obesity, severe, susceptibility to, BMIQ9" EXACT [OMIM:602025, OMIM:genemap2] synonym: "obesity, susceptibility to" RELATED [OMIM:602025] xref: OMIM:602025 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6931 {source="OMIM:602025"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -524590,6 +522968,7 @@ name: obsolete hypertension, diastolic, resistance to comment: Obsoleted as it represents a trait or is a legacy entry synonym: "hypertension, diastolic, resistance to" RELATED [OMIM:608622] xref: OMIM:608622 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6285 {source="OMIM:608622"} is_obsolete: true [Term] @@ -524661,6 +523040,7 @@ synonym: "compression fracture, susceptibility to" RELATED [OMIM:613418] synonym: "metaphyseal fracture, susceptibility to" RELATED [OMIM:613418] synonym: "osteoporosis, susceptibility to" RELATED [OMIM:613418] xref: OMIM:613418 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/38221 {source="OMIM:613418"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -524674,6 +523054,7 @@ synonym: "glycerol quantitative trait locus" EXACT [OMIM:614411, OMIM:genemap2] synonym: "Glycerol release during exercise, defective" RELATED [OMIM:614411] synonym: "GLYCQTL" RELATED ABBREVIATION [OMIM:614411] xref: OMIM:614411 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/640 {source="OMIM:614411"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -524684,6 +523065,7 @@ def: "OBSOLETE. Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and comment: Obsoleted as it represents a trait or is a legacy entry synonym: "C3HEX, ability to smell" EXACT [OMIM:615082, OMIM:genemap2] xref: OMIM:615082 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8261 {source="OMIM:615082"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -524697,6 +523079,7 @@ synonym: "blood group, Vel system" EXACT [OMIM:615264, OMIM:genemap2] synonym: "VEL" RELATED ABBREVIATION [OMIM:615264] synonym: "Vel-null phenotype" RELATED [OMIM:615264] xref: OMIM:615264 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/44204 {source="OMIM:615264"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -524709,6 +523092,7 @@ synonym: "body MASS index quantitative trait locus 18" RELATED [OMIM:615457] synonym: "obesity, susceptibility to" RELATED [OMIM:615457] synonym: "obesity, susceptibility to, BMIQ18" EXACT [OMIM:615457, OMIM:genemap2] xref: OMIM:615457 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21232 {source="OMIM:615457"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -524741,6 +523125,7 @@ xref: Orphanet:590 {source="OMIM:616224"} xref: UMLS:C4479088 {source="MEDGEN:1393545", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018940 {source="DOID:0080587", source="OMIM:616224"} ! congenital myasthenic syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30228 {source="OMIM:616224"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -524798,6 +523183,7 @@ xref: OMIM:617360 {source="MONDO:equivalentTo"} xref: Orphanet:646278 {source="MONDO:equivalentTo"} xref: UMLS:C4479246 {source="MEDGEN:1385307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1733 {source="OMIM:617360"} [Term] id: MONDO:0044303 @@ -524810,6 +523196,7 @@ xref: OMIM:617364 {source="MONDO:equivalentTo"} xref: UMLS:C4479250 {source="MEDGEN:1387409", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9407 {source="OMIM:617364"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -524836,7 +523223,7 @@ is_a: MONDO:0037871 {source="PMID:33340416", source="https://orcid.org/0000-0001 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0044304 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0009861 {source="https://github.com/Orphanet/ORDO/issues/15", source="https://orcid.org/0000-0001-5208-3432"} ! phenylketonuria relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617384", source="Orphanet:508523"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28908 {source="Orphanet:508523"} ! DNAJC12 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28908 {source="OMIM:617384"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -524853,6 +523240,7 @@ xref: MEDGEN:1387448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617392 {source="MONDO:equivalentTo"} xref: UMLS:C4479322 {source="MEDGEN:1387448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019287 {source="DOID:0111650", source="OMIM:617392"} ! ectodermal dysplasia syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17550 {source="OMIM:617392"} [Term] id: MONDO:0044306 @@ -524877,6 +523265,7 @@ is_a: MONDO:0015653 {source="Orphanet:500545"} ! monogenic epilepsy is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500545", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20967 {source="OMIM:617393"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -524913,6 +523302,7 @@ xref: OMIM:617408 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:617408"} xref: UMLS:C4479424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385861"} is_a: MONDO:0015253 {source="DOID:0111893", source="OMIM:617408"} ! Diamond-Blackfan anemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10328 {source="OMIM:617408"} [Term] id: MONDO:0044310 @@ -524929,6 +523319,7 @@ xref: OMIM:617409 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:617409"} xref: UMLS:C4479428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1373199"} is_a: MONDO:0015253 {source="DOID:0111880", source="OMIM:617409"} ! Diamond-Blackfan anemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10416 {source="OMIM:617409"} [Term] id: MONDO:0044311 @@ -524942,6 +523333,7 @@ xref: MEDGEN:1374289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617412 {source="MONDO:equivalentTo"} xref: UMLS:C4479431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1374289"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10410 {source="OMIM:617412"} [Term] id: MONDO:0044312 @@ -524957,6 +523349,7 @@ xref: OMIM:617425 {source="MONDO:equivalentTo"} xref: UMLS:C4479452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1381460"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3518 {source="OMIM:617425"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -524973,6 +523366,7 @@ xref: MEDGEN:1373351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617432 {source="MONDO:equivalentTo"} xref: UMLS:C4479476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1373351"} is_a: MONDO:0019502 {source="DOID:0081222", source="OMIM:617432"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11546 {source="OMIM:617432"} [Term] id: MONDO:0044314 @@ -524988,6 +523382,7 @@ xref: OMIM:617433 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:617433"} xref: UMLS:C4479481 {source="MEDGEN:1378790", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019200 {source="OMIM:617433"} ! retinitis pigmentosa +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17090 {source="OMIM:617433"} [Term] id: MONDO:0044315 @@ -525020,6 +523415,7 @@ xref: OMIM:617441 {source="MONDO:equivalentTo"} xref: UMLS:C4479504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1378448"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0044316 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13937 {source="OMIM:617441"} [Term] id: MONDO:0044317 @@ -525080,6 +523476,7 @@ xref: UMLS:C4479520 {source="MEDGEN:1375601", source="MONDO:equivalentTo", sourc is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:505237"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015653 {source="Orphanet:505237"} ! monogenic epilepsy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24281 {source="OMIM:617452"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -525109,6 +523506,7 @@ xref: OMIM:617478 {source="MONDO:equivalentTo"} xref: UMLS:C4479549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1387412"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015161 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20185 {source="OMIM:617478"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6024" xsd:anyURI [Term] @@ -525123,6 +523521,7 @@ xref: OMIM:617532 {source="MONDO:equivalentTo"} xref: UMLS:C4479636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1379216"} is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0001071 {source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17939 {source="OMIM:617532"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/926" xsd:anyURI @@ -525145,6 +523544,7 @@ xref: Orphanet:642763 {source="MONDO:equivalentTo"} xref: UMLS:C4479637 {source="MEDGEN:1388282", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4718 {source="OMIM:617537"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -525162,6 +523562,7 @@ xref: MEDGEN:1611968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617694 {source="MONDO:equivalentTo"} xref: UMLS:C4540156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1611968"} is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1770 {source="OMIM:617694"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -525177,6 +523578,7 @@ xref: MEDGEN:1621245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617784 {source="MONDO:equivalentTo"} xref: UMLS:C4521564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621245"} is_a: MONDO:0019391 {source="OMIM:617784"} ! Fanconi anemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25539 {source="OMIM:617784"} [Term] id: MONDO:0044326 @@ -525245,6 +523647,7 @@ xref: OMIM:617952 {source="MONDO:equivalentTo"} xref: UMLS:C4693736 {source="MEDGEN:1635201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019019 {source="OMIM:617952"} ! osteogenesis imperfecta is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18345 {source="OMIM:617952"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -525262,6 +523665,7 @@ xref: MEDGEN:1642659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618011 {source="MONDO:equivalentTo"} xref: UMLS:C4693933 {source="MEDGEN:1642659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021022 {source="DOID:0080581", source="OMIM:618011"} ! hereditary hyperekplexia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25903 {source="OMIM:618011"} [Term] id: MONDO:0044331 @@ -525941,6 +524345,7 @@ xref: UMLS:C4540367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="DOID:0081175", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0015160 {source="Orphanet:494439"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17097 {source="OMIM:617763"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -525995,7 +524400,6 @@ xref: UMLS:C5567464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015990 {source="Orphanet:494526"} ! focal, segmental or multifocal dystonia relationship: has_characteristic HP:0003593 ! Infantile onset -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8772 {source="MONDO:mim2gene_medgen"} ! PDE10A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5761" xsd:anyURI [Term] @@ -526184,7 +524588,7 @@ is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:496641", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0005559 {source="Orphanet:496641", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:496641", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11581 {source="MONDO:mim2gene_medgen"} ! TBCD +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11581 {source="OMIM:617193"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI @@ -526338,7 +524742,7 @@ xref: UMLS:C3553418 {source="MEDGEN:766332", source="MONDO:equivalentTo", source is_a: MONDO:0002263 {source="https://orcid.org/0000-0002-5002-8648"} ! female reproductive system disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5286 {source="MONDO:mim2gene_medgen"} ! HTR1A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5286 {source="OMIM:614674"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI @@ -526383,7 +524787,6 @@ xref: UMLS:C5567241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0018230 {source="Orphanet:498481"} ! skeletal dysplasia relationship: disease_has_feature HP:0004349 {source="Orphanet:498481"} ! Reduced bone mineral density relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:498481", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 {source="https://orcid.org/0000-0002-6601-2165"} ! LRP5 [Term] id: MONDO:0044680 @@ -526407,7 +524810,6 @@ xref: MEDGEN:1814448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:498693 {source="MONDO:equivalentTo"} xref: UMLS:C5680092 {source="MEDGEN:1814448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015168 {source="Orphanet:498693"} ! arthrogryposis multiplex congenita -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7549 {source="https://orcid.org/0000-0002-6601-2165"} ! MYBPC1 [Term] id: MONDO:0044683 @@ -526526,6 +524928,7 @@ xref: UMLS:C5567229 {source="MEDGEN:1798652", source="MONDO:equivalentTo", sourc is_a: MONDO:0015159 {source="Orphanet:500144"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500144", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24284 {source="OMIM:617669"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI @@ -526586,6 +524989,7 @@ is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500180", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12511 {source="OMIM:617672"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -526610,6 +525014,7 @@ is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect du is_a: MONDO:0020768 {source="MONDO:301018", source="OMIM:301018"} ! X-linked deafness is_a: MONDO:0024623 {source="MONDO:0019936-obsoleted"} ! otorhinolaryngologic disease relationship: has_characteristic HP:0001417 ! X-linked inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25169 {source="OMIM:301018"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -526730,6 +525135,7 @@ xref: Orphanet:502423 {source="MONDO:equivalentTo", source="OMIM:617675"} xref: UMLS:C4540096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1620960"} is_a: MONDO:0009637 {source="Orphanet:502423"} ! inborn mitochondrial myopathy relationship: excluded_subClassOf MONDO:0100309 {source="Orphanet:502423", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary ataxia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29678 {source="OMIM:617675"} [Term] id: MONDO:0044715 @@ -526797,6 +525203,7 @@ xref: OMIM:617762 {source="MONDO:equivalentTo", source="Orphanet:502444"} xref: Orphanet:502444 {source="MONDO:equivalentTo", source="OMIM:617762"} xref: UMLS:C4540358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1622324"} is_a: MONDO:0019046 {source="Orphanet:502444"} ! leukodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16066 {source="OMIM:617762"} [Term] id: MONDO:0044719 @@ -526837,6 +525244,7 @@ xref: UMLS:C3281223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:614575"} ! hereditary disease is_a: MONDO:0020047 {source="Orphanet:504476"} ! autosomal recessive syndromic cerebellar ataxia is_a: MONDO:0024623 {source="Orphanet:504476"} ! otorhinolaryngologic disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9969 {source="OMIM:614575"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4894" xsd:anyURI [Term] @@ -526859,6 +525267,7 @@ xref: Orphanet:504523 {source="OMIM:617514", source="MONDO:equivalentTo"} xref: UMLS:C4479588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1384124"} is_a: MONDO:0044200 {source="Orphanet:504523", source="PMID:31953710"} ! T-B+ severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0044721 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18874 {source="OMIM:617514"} [Term] id: MONDO:0044723 @@ -526883,7 +525292,6 @@ xref: Orphanet:505208 {source="MONDO:equivalentTo"} xref: UMLS:C4310650 {source="MEDGEN:934617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017359 {source="DC-OMIM:617248", source="DOID:0070000", source="OMIM:617248", source="Orphanet:505208"} ! 3-methylglutaconic aciduria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0044723 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14348 {source="MONDO:mim2gene_medgen"} ! HTRA2 [Term] id: MONDO:0044724 @@ -526911,6 +525319,7 @@ xref: UMLS:C4540171 {source="MEDGEN:1622927", source="MONDO:equivalentTo", sourc is_a: MONDO:0017359 {source="DOID:0070002", source="OMIM:617698", source="Orphanet:505216"} ! 3-methylglutaconic aciduria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0044724 {source="MONDO:CLINGEN"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:505216", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23656 {source="OMIM:617698"} [Term] id: MONDO:0044725 @@ -526934,6 +525343,7 @@ xref: Orphanet:505227 {source="MONDO:equivalentTo", source="OMIM:617827"} xref: UMLS:C5568132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799555"} is_a: MONDO:0015131 {source="DOID:0111993", source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency is_a: MONDO:0021094 {source="OMIM:617827"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28980 {source="OMIM:617827"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3191" xsd:anyURI [Term] @@ -526958,6 +525368,7 @@ is_a: MONDO:0005559 {source="Orphanet:505242"} ! neurodegenerative disease is_a: MONDO:0015962 {source="Orphanet:505242"} ! inherited renal tubular disease is_a: MONDO:0017764 {source="Orphanet:505242"} ! disorder of zinc metabolism is_a: MONDO:0024237 {source="Orphanet:505242"} ! inherited neurodegenerative disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1329 {source="OMIM:617595"} [Term] id: MONDO:0044727 @@ -527026,6 +525437,7 @@ xref: Orphanet:506358 {source="OMIM:617557", source="MONDO:equivalentTo"} xref: UMLS:C4479652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1375401"} is_a: MONDO:0015159 {source="Orphanet:506358"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:506358", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12856 {source="OMIM:617557"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -527402,6 +525814,7 @@ xref: MEDGEN:898849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612885 {source="MONDO:equivalentTo"} xref: UMLS:C4225402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:898849"} is_a: MONDO:0019852 {source="OMIM:612885"} ! inherited primary ovarian failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16147 {source="OMIM:612885"} [Term] id: MONDO:0044777 @@ -527418,6 +525831,7 @@ xref: MEDGEN:1646133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618014 {source="MONDO:equivalentTo"} xref: UMLS:C4693941 {source="MEDGEN:1646133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019852 {source="OMIM:618014"} ! inherited primary ovarian failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4224 {source="OMIM:618014"} [Term] id: MONDO:0044778 @@ -529762,6 +528176,7 @@ xref: MEDGEN:1618364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301010 {source="MONDO:equivalentTo"} xref: UMLS:C4538795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1618364"} is_a: MONDO:0001384 {source="OMIM:301010"} ! myopia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/710 {source="OMIM:301010"} [Term] id: MONDO:0049222 @@ -529780,6 +528195,7 @@ xref: OMIM:301013 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:301013"} xref: UMLS:C4692652 {source="MEDGEN:1639885", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019181 {source="DOID:0112054", source="OMIM:301013"} ! non-syndromic X-linked intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26239 {source="OMIM:301013"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -529841,7 +528257,6 @@ xref: UMLS:C4551562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0012126 {source="OMIM:608805"} ! familial avascular necrosis of femoral head is_a: MONDO:0022800 {source="PMID:31633310"} ! type 2 collagenopathy is_a: MONDO:1030002 {source="https://clinicalgenome.org/affiliation/40065/", source="https://orcid.org/0009-0003-2127-3550"} ! dysplasia of the proximal femoral epiphyses -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -529883,6 +528298,7 @@ is_a: MONDO:0005501 {source="DOID:0070269", source="OMIM:617395"} ! congenital d is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0017750 {source="Orphanet:435934"} ! defect in conserved oligomeric Golgi complex relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6546 {source="OMIM:617395"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -529903,7 +528319,6 @@ xref: OMIM:607095 {source="MONDO:equivalentTo"} xref: Orphanet:93347 {source="OMIM:607095"} xref: UMLS:C4551965 {source="MONDO:equivalentTo", source="MEDGEN:1638106", source="MONDO:MEDGEN"} is_a: MONDO:0011773 {source="DOID:0050640", source="OMIM:607095"} ! anauxetic dysplasia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10031 {source="MONDO:mim2gene_medgen"} ! RMRP [Term] id: MONDO:0054561 @@ -529919,6 +528334,7 @@ xref: OMIM:617396 {source="MONDO:equivalentTo"} xref: Orphanet:93347 {source="OMIM:617396"} xref: UMLS:C4479357 {source="MEDGEN:1384439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011773 {source="DOID:0080962", source="OMIM:617396"} ! anauxetic dysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30129 {source="OMIM:617396"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -529935,6 +528351,7 @@ xref: OMIM:617405 {source="MONDO:equivalentTo"} xref: Orphanet:93426 {source="OMIM:617405"} xref: UMLS:C4479416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1372794"} is_a: MONDO:0018770 {source="OMIM:617405"} ! Jeune syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28482 {source="OMIM:617405"} [Term] id: MONDO:0054573 @@ -529964,6 +528381,7 @@ xref: Orphanet:851 {source="OMIM:617443"} xref: UMLS:C4479515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1386863"} is_a: MONDO:0000009 {source="OMIM:617443"} ! inherited bleeding disorder, platelet-type relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0054577 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3749 {source="OMIM:617443"} [Term] id: MONDO:0054581 @@ -529985,7 +528403,6 @@ xref: Orphanet:857 {source="OMIM:107480"} xref: UMLS:C4551481 {source="MEDGEN:1635275", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0007142 {source="OMIM:107480"} ! Townes-Brocks syndrome is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10524 {source="MONDO:mim2gene_medgen"} ! SALL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -530002,7 +528419,7 @@ xref: OMIM:617466 {source="MONDO:equivalentTo"} xref: Orphanet:857 {source="OMIM:617466"} xref: UMLS:C4479534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1381939"} is_a: MONDO:0007142 {source="OMIM:617466"} ! Townes-Brocks syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17748 ! DACT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17748 {source="OMIM:617466"} [Term] id: MONDO:0054588 @@ -530019,6 +528436,7 @@ xref: OMIM:617506 {source="MONDO:equivalentTo"} xref: Orphanet:2701 {source="OMIM:617506"} xref: UMLS:C4479577 {source="MEDGEN:1376945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011899 {source="DOID:0080693", source="OMIM:617506"} ! Noonan syndrome-like disorder with loose anagen hair +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9282 {source="OMIM:617506"} [Term] id: MONDO:0054591 @@ -530033,6 +528451,7 @@ xref: UMLS:C4479599 {source="MEDGEN:1375936", source="MONDO:equivalentTo", sourc is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0005071 {source="OMIM:617516", source="UMLS:C4479599"} ! nervous system disorder is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9557 {source="OMIM:617516"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -530052,6 +528471,7 @@ xref: UMLS:C4479608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0007988 {source="OMIM:617520", source="https://orcid.org/0000-0001-5493-2602"} ! autosomal dominant primary microcephaly relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: excluded_subClassOf MONDO:0016660 {source="OMIM:617520", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive primary microcephaly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20751 {source="OMIM:617520"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3738" xsd:anyURI [Term] @@ -530120,6 +528540,7 @@ xref: Orphanet:513456 {source="MONDO:equivalentTo"} xref: UMLS:C4539927 {source="MEDGEN:1627555", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:513456"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21208 {source="OMIM:617616"} [Term] id: MONDO:0054637 @@ -530140,7 +528561,7 @@ xref: Orphanet:2701 {source="OMIM:607721"} xref: UMLS:C4478716 {source="MEDGEN:1379805", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010908 {source="OMIM:607721"} ! loose anagen syndrome is_a: MONDO:0011899 {source="DOID:0080692", source="OMIM:607721"} ! Noonan syndrome-like disorder with loose anagen hair -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15454 {source="MONDO:mim2gene_medgen"} ! SHOC2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15454 {source="OMIM:607721"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -530155,6 +528576,7 @@ xref: MEDGEN:1617600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617664 {source="MONDO:equivalentTo"} xref: UMLS:C4540029 {source="MEDGEN:1617600", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0111492", source="OMIM:617664"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16618 {source="OMIM:617664"} [Term] id: MONDO:0054665 @@ -530204,6 +528626,7 @@ xref: OMIM:617695 {source="MONDO:equivalentTo"} xref: Orphanet:611247 {source="MONDO:equivalentTo"} xref: UMLS:C4540164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1627627"} is_a: MONDO:0020135 {source="DOID:0112324", source="OMIM:617695", source="Orphanet:611247"} ! pontocerebellar hypoplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25622 {source="OMIM:617695"} [Term] id: MONDO:0054677 @@ -530218,6 +528641,7 @@ xref: NCIT:C174440 {source="MONDO:equivalentTo"} xref: OMIM:617713 {source="MONDO:equivalentTo"} xref: UMLS:C4540209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1623699"} is_a: MONDO:0000732 {source="DOID:0111495", source="OMIM:617713"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1243 {source="OMIM:617713"} [Term] id: MONDO:0054680 @@ -530256,6 +528680,7 @@ xref: OMIM:617765 {source="MONDO:equivalentTo"} xref: UMLS:C4540380 {source="MEDGEN:1614928", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015517 {source="DOID:0081156", source="OMIM:617765"} ! common variable immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0054691 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21729 {source="OMIM:617765"} [Term] id: MONDO:0054695 @@ -530290,6 +528715,7 @@ xref: OMIM:617585 {source="MONDO:equivalentTo"} xref: UMLS:C4539811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1612104"} is_a: MONDO:0021094 {source="OMIM:617585"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0054696 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9956 {source="OMIM:617585"} [Term] id: MONDO:0054697 @@ -530331,7 +528757,7 @@ xref: Orphanet:324999 {source="OMIM:256040"} xref: Orphanet:325004 {source="OMIM:256040"} xref: UMLS:C4746851 {source="MEDGEN:1648310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009726 {source="OMIM:256040"} ! proteosome-associated autoinflammatory syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9545 {source="MONDO:mim2gene_medgen"} ! PSMB8 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9545 {source="OMIM:256040"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -530351,6 +528777,7 @@ xref: MEDGEN:1648456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617591 {source="MONDO:equivalentTo"} xref: UMLS:C4747850 {source="MEDGEN:1648456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009726 {source="DOID:0060916", source="OMIM:617591"} ! proteosome-associated autoinflammatory syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9541 {source="OMIM:617591"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -530385,6 +528812,7 @@ xref: OMIM:617768 {source="MONDO:equivalentTo"} xref: Orphanet:261652 {source="OMIM:617768"} xref: UMLS:C4540395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1623903"} is_a: MONDO:0012455 {source="DOID:0080598", source="OMIM:617768"} ! Kleefstra syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13726 {source="OMIM:617768"} [Term] id: MONDO:0054708 @@ -530467,6 +528895,7 @@ xref: OMIM:617593 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:617593"} xref: UMLS:C4539824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621256"} is_a: MONDO:0004983 {source="DOID:0070166", source="OMIM:617593"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25631 {source="OMIM:617593"} [Term] id: MONDO:0054725 @@ -530478,6 +528907,7 @@ xref: MEDGEN:1617056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617644 {source="MONDO:equivalentTo"} xref: UMLS:C4539991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1617056"} is_a: MONDO:0004983 {source="OMIM:617644"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1105 {source="OMIM:617644"} [Term] id: MONDO:0054726 @@ -530509,6 +528939,7 @@ xref: MEDGEN:1626589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617707 {source="MONDO:equivalentTo"} xref: UMLS:C4540185 {source="MONDO:equivalentTo", source="MEDGEN:1626589", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="DOID:0070181", source="OMIM:617707"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11737 {source="OMIM:617707"} [Term] id: MONDO:0054728 @@ -530521,6 +528952,7 @@ xref: MEDGEN:1646063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617959 {source="MONDO:equivalentTo"} xref: UMLS:C4693751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646063"} is_a: MONDO:0004983 {source="DOID:0111929", source="OMIM:617959"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26107 {source="OMIM:617959"} [Term] id: MONDO:0054729 @@ -530537,6 +528969,7 @@ xref: OMIM:617960 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:617960"} xref: UMLS:C4693765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646677"} is_a: MONDO:0004983 {source="DOID:0111920", source="OMIM:617960"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11738 {source="OMIM:617960"} [Term] id: MONDO:0054730 @@ -530549,6 +528982,7 @@ xref: MEDGEN:1644751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617961 {source="MONDO:equivalentTo"} xref: UMLS:C4693773 {source="MEDGEN:1644751", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="OMIM:617961"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14927 {source="OMIM:617961"} [Term] id: MONDO:0054731 @@ -530566,6 +529000,7 @@ xref: Orphanet:276234 {source="OMIM:617965"} xref: UMLS:C4693784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634748"} is_a: MONDO:0004983 {source="DOID:0111928", source="OMIM:617965"} ! spermatogenic failure relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0054731 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20091 {source="OMIM:617965"} [Term] id: MONDO:0054732 @@ -530593,6 +529028,7 @@ xref: MEDGEN:1648499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618091 {source="MONDO:equivalentTo"} xref: UMLS:C4748142 {source="MEDGEN:1648499", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="DOID:0111930", source="OMIM:618091"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11245 {source="OMIM:618091"} [Term] id: MONDO:0054736 @@ -530628,6 +529064,7 @@ xref: OMIM:219000 {source="MONDO:equivalentTo"} xref: Orphanet:2052 {source="OMIM:219000"} xref: UMLS:C4551480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639061"} is_a: MONDO:0009046 {source="DOID:0111405", source="OMIM:219000"} ! Fraser syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19185 {source="OMIM:219000"} [Term] id: MONDO:0054738 @@ -530660,6 +529097,7 @@ xref: Orphanet:2052 {source="OMIM:617667"} xref: UMLS:C4540040 {source="MEDGEN:1621907", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009046 {source="DOID:0111406", source="OMIM:617667"} ! Fraser syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0054739 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18708 {source="OMIM:617667"} [Term] id: MONDO:0054740 @@ -530686,7 +529124,6 @@ xref: UMLS:C4551988 {source="MEDGEN:1632198", source="MONDO:equivalentTo", sourc is_a: MONDO:0007339 {source="DOID:0080345", source="OMIM:119580"} ! blepharocheilodontic syndrome intersection_of: MONDO:0007339 ! blepharocheilodontic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1748 ! CDH1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1748 {source="MONDO:mim2gene_medgen"} ! CDH1 [Term] id: MONDO:0054741 @@ -530709,6 +529146,7 @@ xref: OMIM:617872 {source="MONDO:equivalentTo"} xref: Orphanet:457223 {source="MONDO:equivalentTo", source="OMIM:617872"} xref: UMLS:C4693450 {source="MEDGEN:1631307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0111497", source="OMIM:617872"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14499 {source="OMIM:617872"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6910" xsd:anyURI [Term] @@ -530724,6 +529162,7 @@ xref: MEDGEN:1639653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617873 {source="MONDO:equivalentTo"} xref: UMLS:C4693466 {source="MEDGEN:1639653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0111464", source="OMIM:617873"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20286 {source="OMIM:617873"} [Term] id: MONDO:0054743 @@ -530740,7 +529179,6 @@ xref: OMIM:617874 {source="MONDO:equivalentTo"} xref: UMLS:C4693472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646969"} is_a: MONDO:0000447 {source="OMIM:617874"} ! autosomal dominant polycystic liver disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0054743 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23161 {source="OMIM:617874"} ! ALG8 [Term] id: MONDO:0054748 @@ -530769,6 +529207,7 @@ synonym: "body MASS index quantitative trait locus 19" RELATED [OMIM:617885] synonym: "obesity, Susceptibility to" RELATED [OMIM:617885] synonym: "obesity, susceptibility to, BMIQ19" EXACT [OMIM:617885, OMIM:genemap2] xref: OMIM:617885 {source="MONDO:obsoleteEquivalent"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/234 {source="OMIM:617885"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -530847,6 +529286,7 @@ xref: MEDGEN:1647672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617916 {source="MONDO:equivalentTo"} xref: UMLS:C4693583 {source="MEDGEN:1647672", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018307 {source="OMIM:617916"} ! neurodegeneration with brain iron accumulation +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15578 {source="OMIM:617916"} [Term] id: MONDO:0054764 @@ -530861,6 +529301,7 @@ xref: MEDGEN:1645224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617917 {source="MONDO:equivalentTo"} xref: UMLS:C4693587 {source="MEDGEN:1645224", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018307 {source="OMIM:617917"} ! neurodegeneration with brain iron accumulation +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2342 {source="OMIM:617917"} [Term] id: MONDO:0054765 @@ -530875,6 +529316,7 @@ xref: OMIM:617920 {source="MONDO:equivalentTo"} xref: Orphanet:319635 {source="OMIM:617920"} xref: UMLS:C4554421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640641"} is_a: MONDO:0007101 {source="OMIM:617920"} ! familial primary localized cutaneous amyloidosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4462 {source="OMIM:617920"} [Term] id: MONDO:0054770 @@ -530890,6 +529332,7 @@ xref: MEDGEN:1799326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617927 {source="MONDO:equivalentTo"} xref: UMLS:C5567903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799326"} is_a: MONDO:0015375 {source="DOID:0060961", source="OMIM:617927", source="https://orcid.org/0000-0001-5208-3432"} ! orofaciodigital syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17367 {source="OMIM:617927"} [Term] id: MONDO:0054771 @@ -530902,6 +529345,7 @@ xref: MEDGEN:1645093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617928 {source="MONDO:equivalentTo"} xref: UMLS:C4693660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645093"} is_a: MONDO:0015486 {source="OMIM:617928"} ! keratoconus +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24071 {source="OMIM:617928"} [Term] id: MONDO:0054776 @@ -530950,6 +529394,7 @@ xref: MEDGEN:1644927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617950 {source="MONDO:equivalentTo"} xref: UMLS:C4693722 {source="MEDGEN:1644927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0111482", source="OMIM:617950"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14495 {source="OMIM:617950"} [Term] id: MONDO:0054782 @@ -530965,6 +529410,7 @@ xref: MEDGEN:1633653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617951 {source="MONDO:equivalentTo"} xref: UMLS:C4693733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633653"} is_a: MONDO:0019046 {source="DOID:0070398", source="OMIM:617951"} ! leukodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3418 {source="OMIM:617951"} [Term] id: MONDO:0054785 @@ -530987,6 +529433,7 @@ xref: OMIM:617954 {source="Orphanet:569290", source="MONDO:equivalentTo"} xref: Orphanet:569290 {source="MONDO:equivalentTo"} xref: UMLS:C4693741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643082"} is_a: MONDO:0017338 {source="DOID:0070332", source="OMIM:617954", source="Orphanet:569290"} ! fatal multiple mitochondrial dysfunctions syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9119 {source="OMIM:617954"} [Term] id: MONDO:0054791 @@ -531001,6 +529448,7 @@ xref: MEDGEN:1631337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617964 {source="MONDO:equivalentTo"} xref: UMLS:C4693779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631337"} is_a: MONDO:0019046 {source="DOID:0070405", source="OMIM:617964"} ! leukodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22407 {source="OMIM:617964"} [Term] id: MONDO:0054794 @@ -531070,6 +529518,7 @@ xref: MEDGEN:1646916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617983 {source="MONDO:equivalentTo"} xref: UMLS:C4693831 {source="MEDGEN:1646916", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016660 {source="OMIM:617983"} ! autosomal recessive primary microcephaly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24305 {source="OMIM:617983"} [Term] id: MONDO:0054805 @@ -531085,6 +529534,7 @@ xref: OMIM:617984 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="OMIM:617984"} xref: UMLS:C4693834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1635688"} is_a: MONDO:0016660 {source="OMIM:617984"} ! autosomal recessive primary microcephaly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28952 {source="OMIM:617984"} [Term] id: MONDO:0054806 @@ -531099,6 +529549,7 @@ xref: MEDGEN:1631589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617985 {source="MONDO:equivalentTo"} xref: UMLS:C4693843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631589"} is_a: MONDO:0016660 {source="OMIM:617985"} ! autosomal recessive primary microcephaly +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1112 {source="OMIM:617985"} [Term] id: MONDO:0054813 @@ -531122,7 +529573,7 @@ is_a: MONDO:0020066 {source="DOID:0080732", source="OMIM:618000", source="Orphan relationship: disease_has_feature HP:0004349 {source="Orphanet:536532"} ! Reduced bone mineral density relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:536532", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density relationship: has_characteristic HP:0000007 {source="Orphanet:536532"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/303 {source="OMIM:618000"} ! AEBP1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/303 {source="OMIM:618000"} [Term] id: MONDO:0054817 @@ -531138,6 +529589,7 @@ xref: MEDGEN:1644557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618006 {source="MONDO:equivalentTo"} xref: UMLS:C4693912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644557"} is_a: MONDO:0019046 {source="DOID:0070404", source="OMIM:618006"} ! leukodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20609 {source="OMIM:618006"} [Term] id: MONDO:0054831 @@ -531154,7 +529606,7 @@ xref: MEDGEN:1648281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618027 {source="MONDO:equivalentTo"} xref: UMLS:C4747954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648281"} is_a: MONDO:0015452 {source="DOID:0112369", source="OMIM:618027"} ! Coffin-Siris syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9964 {source="OMIM:618027", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! DPF2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9964 {source="OMIM:618027"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI [Term] @@ -531196,7 +529648,6 @@ is_a: MONDO:0015626 {source="OMIM:618036"} ! Charcot-Marie-Tooth disease is_a: MONDO:0018993 {source="DOID:0111558", source="Orphanet:521414"} ! Charcot-Marie-Tooth disease type 2 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0054833 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="Orphanet:521414"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/799 {source="Orphanet:521414"} ! ATP1A1 [Term] id: MONDO:0054835 @@ -531220,7 +529671,6 @@ xref: SCTID:722763000 {source="MONDO:equivalentTo"} xref: UMLS:C5700336 {source="MEDGEN:1814585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0013150 {source="OMIM:613135"} ! parkinsonism-dystonia, infantile is_a: MONDO:0700117 {source="DOID:0070489", source="PMID:28749637"} ! SLC6A3-related dopamine transporter deficiency syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11049 {source="MONDO:mim2gene_medgen"} ! SLC6A3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5523" xsd:anyURI [Term] @@ -531248,6 +529698,7 @@ xref: MEDGEN:1648280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618050 {source="MONDO:equivalentTo"} xref: UMLS:C4748003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648280"} is_a: MONDO:0015802 {source="OMIM:618050"} ! autosomal dominant non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11842 {source="OMIM:618050"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7256" xsd:anyURI @@ -531263,6 +529714,7 @@ xref: MEDGEN:1648325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618052 {source="MONDO:equivalentTo"} xref: UMLS:C4748014 {source="MONDO:equivalentTo", source="MEDGEN:1648325", source="MONDO:MEDGEN"} is_a: MONDO:0024573 {source="OMIM:618052"} ! familial hypertrophic cardiomyopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17574 {source="OMIM:618052"} [Term] id: MONDO:0054842 @@ -531283,8 +529735,9 @@ xref: OMIM:618061 {source="MONDO:equivalentTo"} xref: UMLS:C4748044 {source="MEDGEN:1648469", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004691 {source="DOID:0060951", source="OMIM:618061"} ! autosomal dominant polycystic kidney disease intersection_of: MONDO:0020642 ! polycystic kidney disease -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14889 ! DNAJB11 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14889 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0054842 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14889 {source="OMIM:618061"} [Term] id: MONDO:0054843 @@ -531304,6 +529757,7 @@ xref: OMIM:618063 {source="MONDO:equivalentTo"} xref: UMLS:C4748052 {source="MEDGEN:1648465", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="DOID:0111852", source="OMIM:618063"} ! primary ciliary dyskinesia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0054843 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28188 {source="OMIM:618063"} [Term] id: MONDO:0054844 @@ -531319,6 +529773,7 @@ xref: MEDGEN:1648387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618065 {source="MONDO:equivalentTo"} xref: UMLS:C4748058 {source="MEDGEN:1648387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020135 {source="OMIM:618065"} ! pontocerebellar hypoplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9137 {source="OMIM:618065"} [Term] id: MONDO:0054845 @@ -531336,6 +529791,7 @@ xref: MEDGEN:1648486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618067 {source="MONDO:equivalentTo"} xref: UMLS:C4748070 {source="MEDGEN:1648486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100062 {source="DOID:0080446", source="OMIM:618067"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23794 {source="OMIM:618067"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -531353,6 +529809,7 @@ xref: MEDGEN:1648448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618074 {source="MONDO:equivalentTo"} xref: UMLS:C4748079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648448"} is_a: MONDO:0000160 {source="DOID:0111696", source="OMIM:618074"} ! epilepsy, familial adult myoclonic +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11969 {source="OMIM:618074"} [Term] id: MONDO:0054847 @@ -531369,6 +529826,7 @@ xref: MEDGEN:1648435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618075 {source="MONDO:equivalentTo"} xref: UMLS:C4748080 {source="MONDO:equivalentTo", source="MEDGEN:1648435", source="MONDO:MEDGEN"} is_a: MONDO:0000160 {source="DOID:0111694", source="OMIM:618075"} ! epilepsy, familial adult myoclonic +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16854 {source="OMIM:618075"} [Term] id: MONDO:0054849 @@ -531380,6 +529838,7 @@ xref: MEDGEN:1648318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618077 {source="MONDO:equivalentTo"} xref: UMLS:C4748083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648318"} is_a: MONDO:0005265 {source="DOID:0112155", source="OMIM:618077"} ! inflammatory bowel disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25599 {source="OMIM:618077"} [Term] id: MONDO:0054850 @@ -531410,6 +529869,7 @@ xref: MEDGEN:1648406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618084 {source="MONDO:equivalentTo"} xref: UMLS:C4748093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648406"} is_a: MONDO:0019347 {source="DOID:0070525", source="OMIM:618084"} ! peeling skin syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33276 {source="OMIM:618084"} [Term] id: MONDO:0054860 @@ -531578,6 +530038,7 @@ xref: UMLS:C4479613 {source="MEDGEN:1385580", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="DOID:0080312"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: excluded_subClassOf MONDO:0000508 {source="DOID:0080312", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/682 {source="OMIM:617523"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -531873,6 +530334,7 @@ xref: UMLS:C4746970 {source="MEDGEN:1648376", source="MONDO:equivalentTo", sourc is_a: MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia is_a: MONDO:0003689 {source="DOID:0111846"} ! familial hemolytic anemia relationship: has_characteristic HP:0001417 ! X-linked inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13554 {source="OMIM:301015"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -531914,7 +530376,8 @@ xref: UMLS:C4479539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015168 {source="DOID:0080978", source="OMIM:617468"} ! arthrogryposis multiplex congenita intersection_of: MONDO:0015168 ! arthrogryposis multiplex congenita -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18712 ! LGI4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18712 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18712 {source="OMIM:617468"} [Term] id: MONDO:0060489 @@ -531952,7 +530415,7 @@ xref: Orphanet:544469 {source="MONDO:equivalentTo"} xref: UMLS:C4479566 {source="MEDGEN:1380860", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13420 ! PRUNE1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13420 {source="OMIM:617481"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -531987,6 +530450,7 @@ xref: UMLS:C4479603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0060496 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14896 {source="OMIM:617519"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -532009,6 +530473,7 @@ xref: UMLS:C4479631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015159 {source="Orphanet:521426"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9043 {source="OMIM:617527"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -532047,6 +530512,7 @@ xref: Orphanet:659396 {source="MONDO:equivalentTo"} xref: UMLS:C4479654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1386939"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0060510 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3188 {source="OMIM:617561"} [Term] id: MONDO:0060527 @@ -532063,6 +530529,7 @@ xref: OMIM:617596 {source="MONDO:equivalentTo"} xref: UMLS:C1291607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:713903"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0060527 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4643 {source="OMIM:617596"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -532118,6 +530585,7 @@ xref: Orphanet:656130 {source="MONDO:equivalentTo"} xref: UMLS:C4539968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1612119"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0060549 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8632 {source="OMIM:617641"} [Term] id: MONDO:0060550 @@ -532132,6 +530600,7 @@ xref: OMIM:617642 {source="MONDO:equivalentTo"} xref: UMLS:C4539976 {source="MEDGEN:1627079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019673 ! postaxial polydactyly type A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29171 {source="OMIM:617642"} [Term] id: MONDO:0060551 @@ -532163,8 +530632,9 @@ xref: UMLS:C4540004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0020831 {source="OMIM:617660"} ! congenital vertebral-cardiac-renal anomalies syndrome intersection_of: MONDO:0020831 ! congenital vertebral-cardiac-renal anomalies syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4796 ! HAAO +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4796 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0060554 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4796 {source="OMIM:617660"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -532213,7 +530683,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:527450", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations relationship: has_characteristic HP:0000007 {source="Orphanet:527450"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15808 {source="Orphanet:527450"} ! GZF1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15808 {source="OMIM:617662"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -532228,6 +530698,7 @@ xref: OMIM:617668 {source="MONDO:equivalentTo"} xref: UMLS:C4540052 {source="MEDGEN:1624694", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy is_a: MONDO:0100500 {source="https://orcid.org/0000-0002-0736-9199"} ! Mendelian neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/37216 {source="OMIM:617668"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI [Term] @@ -532251,7 +530722,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder is_a: MONDO:0015962 {source="Orphanet:528105"} ! inherited renal tubular disease relationship: has_characteristic HP:0000007 {source="Orphanet:528105"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2033 {source="Orphanet:528105"} ! CLDN10 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2033 {source="OMIM:617671"} [Term] id: MONDO:0060568 @@ -532273,7 +530744,7 @@ xref: UMLS:C4540131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015159 {source="Orphanet:529965"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_characteristic HP:0000006 {source="Orphanet:529965"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1915 {source="Orphanet:529965"} ! CHD1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1915 {source="OMIM:617682"} [Term] id: MONDO:0060577 @@ -532291,6 +530762,7 @@ xref: UMLS:C4540188 {source="MEDGEN:1613354", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0060577 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10537 {source="OMIM:617709"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -532334,7 +530806,6 @@ xref: UMLS:C4521678 {source="MEDGEN:1623572", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0044970 ! mitochondrial disease relationship: has_characteristic HP:0000007 {source="Orphanet:542585"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3642 {source="Orphanet:542585"} ! FDXR [Term] id: MONDO:0060583 @@ -532350,6 +530821,7 @@ xref: OMIM:617718 {source="MONDO:equivalentTo"} xref: UMLS:C4540232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1618052"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0060583 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/704 {source="OMIM:617718"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -532379,6 +530851,7 @@ xref: OMIM:617732 {source="MONDO:equivalentTo"} xref: UMLS:C4540277 {source="MEDGEN:1623077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20776 {source="OMIM:617732"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -532392,6 +530865,7 @@ xref: MEDGEN:1616061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617744 {source="MONDO:equivalentTo"} xref: UMLS:C4540293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1616061"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7782 {source="OMIM:617744"} [Term] id: MONDO:0060592 @@ -532437,7 +530911,6 @@ xref: Orphanet:528084 {source="MONDO:relatedTo"} xref: UMLS:C4540327 {source="MEDGEN:1627464", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3581 {source="Orphanet:528084"} ! BPTF property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7308" xsd:anyURI @@ -532470,6 +530943,7 @@ xref: OMIM:617802 {source="MONDO:equivalentTo"} xref: UMLS:C4540493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1615361"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12651 {source="OMIM:617802"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -532490,6 +530964,7 @@ xref: Orphanet:647788 {source="MONDO:equivalentTo"} xref: UMLS:C4540496 {source="MEDGEN:1622162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16716 {source="OMIM:617804"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -532503,6 +530978,7 @@ xref: OMIM:617807 {source="MONDO:equivalentTo"} xref: UMLS:C4540498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621102"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9761 {source="OMIM:617807"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -532532,7 +531008,7 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation relationship: excluded_subClassOf MONDO:0020022 {source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system malformation relationship: has_characteristic HP:0000007 {source="Orphanet:529665"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4446 {source="Orphanet:529665"} ! GPAA1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4446 {source="OMIM:617810"} [Term] id: MONDO:0060629 @@ -532580,6 +531056,7 @@ xref: OMIM:617862 {source="MONDO:equivalentTo"} xref: UMLS:C4693390 {source="MEDGEN:1637443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23066 {source="OMIM:617862"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -532593,6 +531070,7 @@ xref: OMIM:617864 {source="MONDO:equivalentTo"} xref: UMLS:C4693391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645968"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4574 {source="OMIM:617864"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -532636,6 +531114,7 @@ is_a: MONDO:0018998 {source="https://orcid.org/0000-0001-5208-3432"} ! Leber con relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0060650 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0000365 ! Hearing impairment relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20771 {source="OMIM:617879"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI [Term] @@ -532676,6 +531155,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0100541 {source="https://clinicalgenome.org/affiliation/40005/"} ! GATA5-related congenital heart defects relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15802 {source="OMIM:617912"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7195" xsd:anyURI @@ -532691,6 +531171,7 @@ xref: OMIM:617913 {source="MONDO:equivalentTo"} xref: UMLS:C4693567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634867"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15717 {source="OMIM:617913"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -532703,6 +531184,7 @@ xref: MEDGEN:1647427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617915 {source="MONDO:equivalentTo"} xref: UMLS:C4693578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1647427"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2494 {source="OMIM:617915"} [Term] id: MONDO:0060670 @@ -532806,6 +531288,7 @@ xref: OMIM:617977 {source="MONDO:equivalentTo"} xref: UMLS:C4693816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633724"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25072 {source="OMIM:617977"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -532826,6 +531309,7 @@ xref: Orphanet:580940 {source="MONDO:equivalentTo"} xref: UMLS:C4693824 {source="MEDGEN:1647785", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40006"} ! syndromic intellectual disability is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24713 {source="OMIM:617982"} [Term] id: MONDO:0060711 @@ -532838,6 +531322,7 @@ xref: OMIM:617988 {source="MONDO:equivalentTo"} xref: UMLS:C4693848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1647359"} is_a: MONDO:0002254 ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4670 {source="OMIM:617988"} [Term] id: MONDO:0060712 @@ -532895,6 +531380,7 @@ xref: Orphanet:306661 {source="OMIM:617994"} xref: UMLS:C4693864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638917"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018891 {source="OMIM:617994"} ! familial tumoral calcinosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6344 {source="OMIM:617994"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -532930,6 +531416,7 @@ xref: OMIM:618010 {source="MONDO:equivalentTo"} xref: UMLS:C4747891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648437"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8964 {source="OMIM:618010"} [Term] id: MONDO:0060729 @@ -532945,6 +531432,7 @@ xref: OMIM:618015 {source="MONDO:equivalentTo"} xref: UMLS:C4693947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645733"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019263 ! autosomal erythropoietic protoporphyria +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2088 {source="OMIM:618015"} [Term] id: MONDO:0060732 @@ -532988,6 +531476,7 @@ xref: MEDGEN:1648354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618060 {source="MONDO:equivalentTo"} xref: UMLS:C4748041 {source="MEDGEN:1648354", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10258 {source="OMIM:618060"} [Term] id: MONDO:0060752 @@ -533001,6 +531490,7 @@ xref: OMIM:618076 {source="MONDO:equivalentTo"} xref: UMLS:C4748081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648309"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26941 {source="OMIM:618076"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -533039,7 +531529,7 @@ xref: UMLS:C4748127 {source="MEDGEN:1648345", source="MONDO:equivalentTo", sourc is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14282 {source="Orphanet:597623"} ! IRF2BPL +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14282 {source="OMIM:618088"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3541" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -533057,6 +531547,7 @@ xref: OMIM:618089 {source="MONDO:equivalentTo"} xref: UMLS:C4748135 {source="MEDGEN:1648498", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13590 {source="OMIM:618089"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -533070,6 +531561,7 @@ xref: OMIM:618090 {source="MONDO:equivalentTo"} xref: UMLS:C4748137 {source="MEDGEN:1648487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21610 {source="OMIM:618090"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI [Term] @@ -533087,7 +531579,6 @@ xref: UMLS:C4748152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13222 {source="OMIM:618092", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BCL11B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -533110,7 +531601,7 @@ xref: Orphanet:3301 {source="OMIM:273395"} xref: UMLS:C4012268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:860705"} is_a: MONDO:0010110 {source="DOID:0112192", source="OMIM:273395"} ! tetraamelia-multiple malformations syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12782 {source="MONDO:mim2gene_medgen"} ! WNT3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12782 {source="OMIM:273395"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -533328,8 +531819,9 @@ xref: OMIM:300909 {source="MONDO:equivalentTo"} xref: UMLS:C3806711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813041"} is_a: MONDO:0020573 {source="OMIM:300909"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12823 ! XPNPEP2 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12823 intersection_of: predisposes_towards MONDO:0015057 ! renin-angiotensin-aldosterone system-blocker-induced angioedema +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12823 {source="OMIM:300909"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2760" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -533964,6 +532456,7 @@ intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0009176 ! epidermodysplasia verruciformis intersection_of: RO:0004001 http://identifiers.org/hgnc/18021 ! has material basis in gain of function germline mutation in TMC6 relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:226400", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18021 {source="OMIM:226400"} relationship: predisposes_towards MONDO:0009176 {source="OMIM:226400"} ! epidermodysplasia verruciformis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -533982,6 +532475,7 @@ is_a: MONDO:0020573 {source="OMIM:177650"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0008327 ! exfoliation syndrome intersection_of: RO:0004001 http://identifiers.org/hgnc/6665 ! has material basis in gain of function germline mutation in LOXL1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6665 {source="OMIM:177650"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -534153,6 +532647,7 @@ is_a: MONDO:0019242 ! inborn disorder of branched-chain amino acid metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100058 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0010910 ! Hypervalinemia relationship: disease_has_feature HP:0010911 ! Hyperleucinemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/977 {source="OMIM:618850"} property_value: http://purl.org/dc/elements/1.1/date "2018-08-31T20:51:10Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -534201,7 +532696,6 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond relationship: disease_has_feature MONDO:0010533 {source="https://orcid.org/0000-0001-5208-3432"} ! Arts syndrome relationship: disease_has_feature MONDO:0015626 {source="MONDO:agrant9394"} ! Charcot-Marie-Tooth disease relationship: disease_has_feature MONDO:0019497 {source="MONDO:agrant9394"} ! nonsyndromic genetic hearing loss -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9462 ! PRPS1 property_value: http://purl.org/dc/elements/1.1/date "2018-10-10T21:18:33Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -534550,7 +533044,6 @@ xref: MEDGEN:1631694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:151100 {source="Orphanet:500", source="DOID:14291", source="MONDO:equivalentTo", source="Orphanet:500/e"} xref: UMLS:C4551484 {source="MEDGEN:1631694", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0007893 {source="DOID:0080548", source="OMIM:151100"} ! Noonan syndrome with multiple lentigines -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9644 {source="MONDO:mim2gene_medgen"} ! PTPN11 [Term] id: MONDO:0100083 @@ -534582,7 +533075,6 @@ xref: NORD:1943 {source="MONDO:NORD"} xref: OMIM:601399 {source="Orphanet:71290/e", source="MONDO:equivalentTo", source="Orphanet:71290"} xref: UMLS:C1832388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321945"} is_a: MONDO:0011071 {source="Orphanet:71290", source="https://clinicalgenome.org/affiliation/50034/"} ! hereditary thrombocytopenia and hematologic cancer predisposition syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10471 {source="https://clinicalgenome.org/affiliation/50034/"} ! RUNX1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -534602,7 +533094,6 @@ synonym: "alpha-actinopathy" EXACT CLINGEN_LABEL [] is_a: MONDO:0016139 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! qualitative or quantitative protein defects in neuromuscular diseases is_a: MONDO:0019952 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! congenital myopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100084 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/129 ! ACTA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/900" xsd:anyURI [Term] @@ -534686,7 +533177,6 @@ xref: MEDGEN:335283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C1845837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335283"} is_a: MONDO:0005570 ! hematologic disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100089 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4170 ! GATA1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -534720,7 +533210,6 @@ xref: GARD:9643 {source="MONDO:GARD"} xref: MEDGEN:697574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C1274225 {source="MEDGEN:697574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0024308 {source="https://github.com/monarch-initiative/mondo/issues/1046", source="https://orcid.org/0000-0002-6601-2165"} ! pseudoxanthoma elasticum (inherited or acquired) -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/57 {source="MONDO:mim2gene_medgen"} ! ABCC6 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum" xsd:anyURI {source="GARD:0009643"} [Term] @@ -534735,7 +533224,6 @@ xref: MEDGEN:1683864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618364 {source="MONDO:equivalentTo"} xref: UMLS:C5193056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683864"} is_a: MONDO:0013981 {source="OMIM:618364", source="https://orcid.org/0000-0001-5208-3432"} ! myoclonus, familial -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 ! SCN8A property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -534753,7 +533241,7 @@ xref: OMIM:614937 {source="MONDO:equivalentTo"} xref: UMLS:C3539916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761667"} is_a: MONDO:0013981 {source="OMIM:614937", source="https://orcid.org/0000-0001-5208-3432"} ! myoclonus, familial relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7869 {source="MONDO:mim2gene_medgen"} ! NOL3 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7869 {source="MONDO:mim2gene_medgen"} ! NOL3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7869 {source="OMIM:614937"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -534786,7 +533274,7 @@ is_a: MONDO:0003847 {source="OMIM:618170"} ! hereditary disease is_a: MONDO:0006025 {source="DOID:0070352"} ! autosomal recessive disease is_a: MONDO:0024237 ! inherited neurodegenerative disorder relationship: has_characteristic HP:0000007 {source="PMID:30401461"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21304 ! ADPRS +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21304 {source="OMIM:618170"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -534848,7 +533336,6 @@ subset: rare xref: OMIM:233910 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0016812 {source="OMIM:233910", source="https://orcid.org/0000-0001-5493-2602"} ! dopa-responsive dystonia is_a: MONDO:0100184 {source="OMIM:233910"} ! GTP cyclohydrolase I deficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4193 {source="OMIM:233910"} ! GCH1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5433" xsd:anyURI @@ -534951,7 +533438,8 @@ xref: OMIM:618393 {source="MONDO:equivalentTo"} xref: UMLS:C4760578 {source="MEDGEN:1675450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008824 {source="DOID:0111379", source="OMIM:618393", source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence intersection_of: MONDO:0008824 ! fetal akinesia deformation sequence -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8067 ! NUP88 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8067 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8067 {source="OMIM:618393"} [Term] id: MONDO:0100105 @@ -534966,7 +533454,7 @@ xref: MEDGEN:1677948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618360 {source="MONDO:equivalentTo"} xref: UMLS:C5193053 {source="MEDGEN:1677948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020496 {source="DOID:0112315", source="OMIM:618360"} ! familial porencephaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26182 ! COLGALT1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26182 {source="OMIM:618360"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -535040,6 +533528,7 @@ xref: OMIM:619428 {source="MONDO:equivalentTo"} xref: UMLS:C5561938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794148"} is_a: MONDO:0003847 {source="OMIM:619428"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100111 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15579 {source="OMIM:619428"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3530" xsd:anyURI @@ -535058,7 +533547,6 @@ is_a: MONDO:0017986 {source="https://www.clinicalgenome.org/affiliation/40049/"} is_a: MONDO:0019233 {source="https://clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation is_a: MONDO:0100372 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal transporter relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100112 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23338 {source="https://orcid.org/0000-0001-5208-3432"} ! ACBD5 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI @@ -535072,7 +533560,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare is_a: MONDO:0017666 {source="MONDO:0017669-obsoleted"} ! diffuse palmoplantar keratoderma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 ! GJB2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI property_value: IAO:0006012 "2024-09-01" xsd:string @@ -535176,6 +533663,7 @@ xref: MEDGEN:1812153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618458 {source="MONDO:equivalentTo"} xref: UMLS:C5676897 {source="MEDGEN:1812153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0800166 {source="OMIM:618458"} ! Knobloch syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8591 {source="OMIM:618458"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -535232,7 +533720,6 @@ synonym: "GNPTAB-related disorder" EXACT [PMID:20301728, PMID:32651481] synonym: "UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] is_a: MONDO:0019248 {source="PMID:20301728", source="PMID:32651481", source="https://orcid.org/0000-0002-5655-9589"} ! mucolipidosis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100122 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29670 {source="https://orcid.org/0000-0002-5655-9589"} ! GNPTAB property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5565" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6020" xsd:anyURI @@ -535270,7 +533757,6 @@ relationship: disease_has_feature HP:0001626 {source="https://clinicalgenome.org relationship: disease_has_feature HP:0001999 {source="https://clinicalgenome.org/affiliation/40006/"} ! Abnormal facial shape relationship: disease_has_feature HP:0012758 {source="https://clinicalgenome.org/affiliation/40006/"} ! Neurodevelopmental delay relationship: disease_has_feature MONDO:0005258 {source="https://clinicalgenome.org/affiliation/40006/"} ! autism spectrum disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18704 {source="https://clinicalgenome.org/affiliation/40006/"} ! NAA10 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -535297,7 +533783,6 @@ is_a: MONDO:0017356 {source="PMID:32017139"} ! inborn disorder of ornithine meta intersection_of: MONDO:0017355 ! inborn disorder of proline metabolism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 ! ALDH18A1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100126 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 {source="PMID:32017139"} ! ALDH18A1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -535457,7 +533942,6 @@ is_a: MONDO:0100062 {source="DOID:0080422", source="https://github.com/monarch-i relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100135 {source="MONDO:CLINGEN"} relationship: disease_has_feature HP:0002373 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! Febrile seizure (within the age range of 3 months to 6 years) relationship: disease_shares_features_of MONDO:0100079 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! developmental and epileptic encephalopathy, 6 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! SCN1A property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome" xsd:anyURI {source="GARD:0010430"} property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/dravet-overview.html" xsd:anyURI @@ -535501,7 +533985,6 @@ is_a: MONDO:0020605 {source="PMID:32439808", source="https://github.com/monarch- is_a: MONDO:0044970 {source="PMID:32439808", source="https://github.com/monarch-initiative/mondo/issues/1585"} ! mitochondrial disease intersection_of: MONDO:0009637 ! inborn mitochondrial myopathy intersection_of: has_characteristic HP:0001419 ! X-linked recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28727 ! APOO [Term] id: MONDO:0100139 @@ -535646,7 +534129,6 @@ subset: rare is_a: MONDO:0019064 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100149 {source="MONDO:CLINGEN"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16268 {source="PMID:35069422", source="https://clinicalgenome.org/affiliation/40060/"} ! PNPLA6 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5527" xsd:anyURI @@ -535690,7 +534172,6 @@ xref: OMIM:219800 {source="MONDO:equivalentTo", source="Orphanet:411629"} xref: UMLS:C2931187 {source="MEDGEN:419735", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016239 {source="MESH:C535335", source="NCIT:C129932"} ! cystinosis relationship: has_characteristic HP:0000007 {source="NCIT:C129932", source="OMIM:219800"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2518 {source="OMIM:219800"} ! CTNS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -535724,7 +534205,6 @@ id: MONDO:0100154 name: TUBB3-related tubulinopathy def: "A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features." [https://clinicalgenome.org/affiliation/40006/] is_a: MONDO:0100153 {source="https://clinicalgenome.org/affiliation/40006/"} ! tubulinopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20772 {source="https://clinicalgenome.org/affiliation/40006/"} ! TUBB3 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5506" xsd:anyURI @@ -535783,8 +534263,9 @@ xref: OMIM:618882 {source="MONDO:equivalentTo"} xref: UMLS:C4016948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:865385"} is_a: MONDO:0009853 {source="OMIM:618882"} ! Imerslund-Grasbeck syndrome intersection_of: MONDO:0009853 {source="OMIM:618882"} ! Imerslund-Grasbeck syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14604 {source="OMIM:618882"} ! AMN +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14604 {source="OMIM:618882"} relationship: has_characteristic HP:0000007 {source="OMIM:618882"} ! Autosomal recessive inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14604 {source="OMIM:618882"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -535848,7 +534329,6 @@ subset: otar {source="MONDO:OTAR"} synonym: "NEMO related ID/EDA-ID" EXACT [https://orcid.org/0000-0002-7437-8060] is_a: MONDO:0021094 {source="PMID:11047757", source="PMID:35163099", source="https://orcid.org/0000-0002-7437-8060"} ! immunodeficiency disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100162 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5961 {source="PMID:11047757", source="PMID:35163099"} ! IKBKG property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5520" xsd:anyURI @@ -536120,7 +534600,6 @@ is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8618 ! PAX4 intersection_of: predisposes_towards MONDO:0012819 ! diabetic ketoacidosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8618 {source="OMIM:612227"} ! PAX4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI [Term] @@ -536172,7 +534651,6 @@ xref: MEDGEN:75683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C0268467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75683"} is_a: MONDO:0045014 {source="https://github.com/monarch-initiative/mondo/issues/1491", source="https://orcid.org/0000-0002-5655-9589"} ! tetrahydrobiopterin metabolic process disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100184 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4193 {source="https://github.com/monarch-initiative/mondo/issues/1491", source="https://orcid.org/0000-0002-5655-9589"} ! GCH1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -536222,7 +534700,6 @@ is_a: MONDO:0016543 {source="DC-OMIM:233910", source="Orphanet:2102"} ! hyperphe is_a: MONDO:0100184 {source="https://github.com/monarch-initiative/mondo/issues/1491", source="https://orcid.org/0000-0002-5655-9589"} ! GTP cyclohydrolase I deficiency relationship: disease_has_basis_in_disruption_of GO:0046146 ! tetrahydrobiopterin metabolic process relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:233910", source="Orphanet:2102"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4193 {source="MONDO:mim2gene_medgen"} ! GCH1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency" xsd:anyURI {source="GARD:0002844"} @@ -536246,8 +534723,6 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ApoA-I and apoC-III deficiency, combined" EXACT [OMIM:618463] is_a: MONDO:0017773 {source="PMID:3118360"} ! hypoalphalipoproteinemia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/600 {source="OMIM:618463"} ! APOA1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/610 {source="PMID:3118360"} ! APOC3 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4925" xsd:anyURI @@ -536409,7 +534884,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: OMIM:137215 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0020573 {source="OMIM:137215"} ! inherited disease susceptibility -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1748 {source="OMIM:137215"} ! CDH1 relationship: predisposes_towards MONDO:0000552 {source="OMIM:137215"} ! breast lobular carcinoma relationship: predisposes_towards MONDO:0018502 {source="OMIM:137215"} ! hereditary gastric cancer property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -536585,7 +535059,6 @@ intersection_of: MONDO:0100210 ! growth hormone insensitivity syndrome with immu intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11367 ! STAT5B relationship: has_characteristic HP:0000007 {source="OMIM:245590"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11367 {source="MONDO:mim2gene_medgen"} ! STAT5B property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI @@ -536651,7 +535124,6 @@ relationship: excluded_subClassOf MONDO:0015331 {source="Orphanet:2273", source= relationship: excluded_subClassOf MONDO:0017269 {source="Orphanet:2273", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked ichthyosis syndrome relationship: excluded_subClassOf MONDO:0021034 {source="Orphanet:2273", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary alopecia relationship: has_characteristic HP:0001419 {source="OMIM:308205"} ! X-linked recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15455 {source="MONDO:mim2gene_medgen"} ! MBTPS2 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7116" xsd:anyURI @@ -536692,8 +535164,9 @@ xref: SCTID:720576001 {source="MONDO:equivalentTo"} xref: UMLS:C5436276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1750003"} is_a: MONDO:0100214 {source="OMIM:613658"} ! Rajab interstitial lung disease with brain calcifications intersection_of: MONDO:0100214 ! Rajab interstitial lung disease with brain calcifications -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17800 ! FARSB +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17800 relationship: has_characteristic HP:0000007 {source="OMIM:613658"} ! Autosomal recessive inheritance +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17800 {source="OMIM:613658"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -536725,7 +535198,6 @@ xref: SCTID:702411003 {source="MONDO:equivalentTo"} xref: UMLS:C3839822 {source="MEDGEN:825667", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="DOID:0081063", source="NCIT:C123317/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100216 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17098 {source="https://clinicalgenome.org/affiliation/40023/", source="https://clinicalgenome.org/affiliation/50050/"} ! DICER1 relationship: predisposes_towards MONDO:0004992 {source="https://clinicalgenome.org/affiliation/40023/", source="https://clinicalgenome.org/affiliation/50050/"} ! cancer property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5779" xsd:string @@ -536743,6 +535215,7 @@ xref: MEDGEN:1823996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620062 {source="MONDO:equivalentTo"} xref: UMLS:C5774223 {source="MEDGEN:1823996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0031632 {source="DOID:0070478", source="OMIM:620062"} ! developmental delay with short stature, dysmorphic facial features, and sparse hair +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3004 {source="OMIM:620062"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -536796,6 +535269,7 @@ xref: OMIM:619013 {source="MONDO:equivalentTo"} xref: UMLS:C5436603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1770895"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100214 {source="OMIM:619013"} ! Rajab interstitial lung disease with brain calcifications +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3592 {source="OMIM:619013"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -536829,7 +535303,6 @@ xref: NANDO:1200997 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: NANDO:2200458 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity is_a: MONDO:0003847 {source="PMID:32514655"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11896 {source="PMID:32514655"} ! TNFAIP3 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -536866,9 +535339,10 @@ xref: Orphanet:2609 {source="OMIM:252010", source="DOID:0060536"} is_a: MONDO:0009637 {source="Orphanet:2609"} ! inborn mitochondrial myopathy is_a: MONDO:0100223 {source="DOID:0112074", source="MONDO:metaclass", source="OMIM:252010", source="https://github.com/monarch-initiative/mondo/issues/1042", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7711 ! NDUFS4 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7711 relationship: excluded_subClassOf MONDO:0000066 {source="DC-OMIM:252010", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial complex deficiency relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2609", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7711 {source="OMIM:252010"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -536978,7 +535452,6 @@ is_a: MONDO:0005071 {source="PMID:33239752", source="https://www.clinicalgenome. is_a: MONDO:0100275 {source="PMID:33239752", source="https://www.clinicalgenome.org/affiliation/40049/"} ! fatty acyl-CoA reductase defects relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100230 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="PMID:33239752", source="https://www.clinicalgenome.org/affiliation/40049/"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26222 {source="PMID:33239752", source="https://www.clinicalgenome.org/affiliation/40049/"} ! FAR1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -537067,7 +535540,6 @@ comment: The ClinGen Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0011119 {source="https://clinicalgenome.org/affiliation/40077/"} ! iridogoniodysgenesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3800 {source="https://clinicalgenome.org/affiliation/40077/"} ! FOXC1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5789" xsd:anyURI @@ -537077,7 +535549,6 @@ name: LTBP2-related ocular dysgenesis def: "Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene." [https://clinicalgenome.org/affiliation/40077/] comment: The ClinGen Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel decided to lump the three disease entities reported in relation to LTBP2 into LTBP2-related ocular dysgenesis based on similar inheritance patterns and molecular mechanism is_a: MONDO:0005328 {source="https://clinicalgenome.org/affiliation/40077/"} ! eye disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6715 {source="https://clinicalgenome.org/affiliation/40077/"} ! LTBP2 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5787" xsd:anyURI @@ -537328,7 +535799,6 @@ xref: NCIT:C179867 {source="MONDO:equivalentTo"} xref: OMIM:400045 {source="MONDO:equivalentTo", source="Orphanet:393", source="Orphanet:393/e"} xref: UMLS:C2748895 {source="MONDO:equivalentTo", source="MEDGEN:411324", source="MONDO:MEDGEN"} is_a: MONDO:0100249 {source="DOID:0111761", source="OMIM:400045"} ! 46,XX testicular disorder of sex development -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11311 {source="MONDO:mim2gene_medgen", source="OMIM:400045"} ! SRY property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -537393,6 +535863,7 @@ xref: MEDGEN:1642611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:211900 {source="MONDO:equivalentTo"} xref: UMLS:C4692564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642611"} is_a: MONDO:0018891 ! familial tumoral calcinosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4125 {source="OMIM:211900"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -537446,7 +535917,6 @@ relationship: excluded_subClassOf MONDO:0017432 {source="Orphanet:3103", source= relationship: excluded_subClassOf MONDO:0018455 {source="Orphanet:3103", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete dysostosis of genetic origin with limb anomaly as a major feature relationship: excluded_subClassOf MONDO:0020232 {source="Orphanet:3103", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete musculoskeletal disease with cataract relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:268300", source="Orphanet:3103"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27230 {source="MONDO:mim2gene_medgen", source="OMIM:268300"} ! ESCO2 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2553" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4901" xsd:anyURI @@ -537502,7 +535972,7 @@ is_a: MONDO:0000351 {source="DC-OMIM:614300", source="DOID:0111038", source="PMI is_a: MONDO:0019222 {source="Orphanet:289290"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism is_a: MONDO:0019502 {source="DC-OMIM:611094", source="PMID:30477030", source="PMID:33309011", source="https://www.clinicalgenome.org/affiliation/40011/"} ! autosomal recessive non-syndromic intellectual disability relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100255 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/257 {source="MONDO:mim2gene_medgen", source="PMID:30477030", source="PMID:33309011", source="https://www.clinicalgenome.org/affiliation/40011/"} ! ADK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/257 {source="OMIM:614300"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2587" xsd:anyURI @@ -537517,7 +535987,6 @@ is_a: MONDO:0000552 {source="https://clinicalgenome.org/affiliation/40023/", sou is_a: MONDO:0018502 {source="https://clinicalgenome.org/affiliation/40023/", source="https://www.clinicalgenome.org/affiliation/50014/"} ! hereditary gastric cancer relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100256 {source="MONDO:CLINGEN"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2509 {source="https://clinicalgenome.org/affiliation/40023/", source="https://www.clinicalgenome.org/affiliation/50014/"} ! CTNNA1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6006" xsd:anyURI @@ -537545,7 +536014,6 @@ synonym: "phytanoyl-CoA hydroxylase deficiency" EXACT CLINGEN_LABEL [https://www is_a: MONDO:0100277 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal alpha oxidation relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100258 {source="MONDO:CLINGEN"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8940 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PHYH property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -537559,7 +536027,6 @@ subset: rare synonym: "peroxisome biogenesis disorder due to PEX1 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX1 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8850 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537574,7 +536041,6 @@ subset: rare synonym: "peroxisome biogenesis disorder due to PEX2 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX2 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9717 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX2 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537588,7 +536054,6 @@ subset: rare synonym: "peroxisome biogenesis disorder due to PEX3 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] synonym: "PEX3 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8858 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX3 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537603,7 +536068,6 @@ subset: rare synonym: "peroxisome biogenesis disorder due to PEX5 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX5 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9719 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX5 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537617,7 +536081,6 @@ subset: rare synonym: "peroxisome biogenesis disorder due to PEX6 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX6 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8859 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX6 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537631,7 +536094,6 @@ subset: rare synonym: "peroxisome biogenesis disorder due to PEX10 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] synonym: "PEX10 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8851 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX10 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537658,7 +536120,6 @@ subset: rare synonym: "peroxisome biogenesis disorder due to PEX12 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX12 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8854 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX12 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537672,7 +536133,6 @@ subset: rare synonym: "peroxisome biogenesis disorder due to PEX13 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX13 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8855 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX13 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537686,7 +536146,6 @@ subset: rare synonym: "peroxisome biogenesis disorder due to PEX14 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX14 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8856 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX14 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537701,7 +536160,6 @@ subset: rare synonym: "peroxisome biogenesis disorder due to PEX16 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX16 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8857 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX16 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537715,7 +536173,6 @@ subset: rare synonym: "peroxisome biogenesis disorder due to PEX19 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX19 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9713 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX19 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537730,7 +536187,6 @@ synonym: "peroxisome biogenesis disorder due to PEX26 defect" EXACT CLINGEN_LABE synonym: "PEX26 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22965 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX26 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537745,7 +536201,6 @@ synonym: "PEX7 related peroxisome biogenesis disorder" EXACT CLINGEN_LABEL [http synonym: "rhizomelic chondrodysplasia punctata type 1 (formerly)" NARROW [https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0100322 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-Zellweger spectrum disorder relationship: excluded_subClassOf MONDO:0019234 {source="https://orcid.org/0000-0001-5208-3432", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8860 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX7 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537762,7 +536217,6 @@ synonym: "GNPAT deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40 is_a: MONDO:0017986 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of plasmalogens biosynthesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100273 {source="MONDO:CLINGEN"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4416 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! GNPAT property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537779,7 +536233,6 @@ synonym: "alkylglycerone-phosphate synthase deficiency" EXACT CLINGEN_LABEL [htt is_a: MONDO:0017986 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of plasmalogens biosynthesis relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100274 {source="MONDO:CLINGEN"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/327 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! AGPS property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537792,7 +536245,6 @@ subset: rare synonym: "FAR1 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] synonym: "fatty acyl-CoA reductase defects" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0017986 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of plasmalogens biosynthesis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26222 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! FAR1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -537834,7 +536286,6 @@ is_a: MONDO:0017703 {source="https://www.clinicalgenome.org/affiliation/40049/"} is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100278 {source="MONDO:CLINGEN"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/341 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! AGXT property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -537847,7 +536298,6 @@ subset: rare synonym: "peroxisome biogenesis disorder due to PEX11B defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] synonym: "PEX11B related peroxisome biogenesis disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8853 ! PEX11B property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -537886,7 +536336,6 @@ is_a: MONDO:0000432 {source="DOID:0060901", source="NCIT:C80307", source="ONCOTR is_a: MONDO:0017594 {source="Orphanet:33226"} ! indolent B-cell non-Hodgkin lymphoma is_a: MONDO:0019052 ! inborn errors of metabolism relationship: has_characteristic MONDO:0021152 {source="OMIMPS:153600"} ! inherited -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7562 {source="MONDO:mim2gene_medgen"} ! MYD88 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -538010,7 +536459,6 @@ xref: Orphanet:53540 {source="OMIM:268100", source="MONDO:directSiblingOf"} xref: UMLS:C1849394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341446"} is_a: MONDO:0005283 {source="DOID:0090059", source="MESH:C564835/inferred", source="MONDO:Redundant"} ! retinal disorder is_a: MONDO:0020248 {source="Orphanet:53540"} ! vitreoretinal degeneration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7974 {source="MONDO:mim2gene_medgen"} ! NR2E3 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -538035,7 +536483,6 @@ xref: UMLS:C0339541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005283 {source="DOID:0090059", source="MESH:C564835/inferred", source="MONDO:Redundant", source="Orphanet:53540"} ! retinal disorder is_a: MONDO:0020248 {source="Orphanet:53540"} ! vitreoretinal degeneration relationship: excluded_subClassOf MONDO:0020244 {source="Orphanet:53540", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete unclassified primitive or secondary maculopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7974 {source="MONDO:mim2gene_medgen"} ! NR2E3 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -538085,6 +536532,7 @@ xref: MEDGEN:1800921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619941 {source="MONDO:equivalentTo"} xref: UMLS:C5677012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800921"} is_a: MONDO:0031415 {source="OMIM:619941"} ! Carey-Fineman-Ziter syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/52391 {source="OMIM:619941"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6049" xsd:anyURI @@ -538161,7 +536609,6 @@ xref: MEDGEN:1778121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614594 {source="MONDO:equivalentTo", source="Orphanet:659", source="GARD:0004075", source="Orphanet:659/btnt"} xref: UMLS:C5542829 {source="MEDGEN:1778121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0031421 {source="DOID:0112013", source="OMIM:614594"} ! Olmsted syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18084 {source="MONDO:mim2gene_medgen"} ! TRPV3 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -538273,7 +536720,6 @@ synonym: "bile acid CoA:amino acid N-acyltransferase deficiency" EXACT CLINGEN_L is_a: MONDO:0100304 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of bile acid aminotransferase relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100305 {source="MONDO:CLINGEN"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/932 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! BAAT property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -538296,7 +536742,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adult Refsum disease due to PEX7 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] is_a: MONDO:0100272 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX7 defect -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8860 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX7 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -538417,7 +536862,6 @@ def: "Any disorder of glycogen metabolism in which the cause of disease is a mut subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0002412 {source="https://clinicalgenome.org/affiliation/40097"} ! disorder of glycogen metabolism -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4699 {source="https://clinicalgenome.org/affiliation/40097/"} ! GYG1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6130" xsd:anyURI @@ -538454,7 +536898,6 @@ xref: SCTID:20852007 {source="MONDO:equivalentTo"} xref: UMLS:C4551647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641146"} is_a: MONDO:0019171 {source="OMIM:192500", source="Orphanet:101016"} ! familial long QT syndrome relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110644", source="NCIT:C85049", source="OMIM:192500", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6294 {source="MONDO:mim2gene_medgen"} ! KCNQ1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -538470,7 +536913,6 @@ xref: UMLS:C4289994 {source="MEDGEN:927526", source="MONDO:equivalentTo", source is_a: MONDO:0003847 {source="https://clinicalgenome.org/affiliation/40080/"} ! hereditary disease is_a: MONDO:0957408 {source="PMID:37161741"} ! type 1 interferonopathy of childhood relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100317 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1839 {source="https://clinicalgenome.org/affiliation/40080/"} ! ADA2 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6166" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI @@ -538708,7 +537150,6 @@ is_a: MONDO:0003847 {source="https://github.com/monarch-initiative/mondo/issues/ intersection_of: MONDO:0000001 ! disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18276 ! SEC61A1 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100337 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18276 {source="https://www.clinicalgenome.org/affiliation/40080/"} ! SEC61A1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -538787,7 +537228,6 @@ xref: MESH:C565561 {source="MONDO:equivalentTo"} xref: OMIM:229300 {source="Orphanet:95/e", source="MONDO:equivalentTo", source="DOID:12705", source="Orphanet:95"} xref: UMLS:C1856689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383962"} is_a: MONDO:0100339 {source="DOID:0111218", source="OMIM:229300", source="https://github.com/monarch-initiative/mondo/issues/2807", source="https://orcid.org/0000-0001-5493-2602"} ! Friedreich ataxia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3951 {source="OMIM:229300"} ! FXN property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -538907,8 +537347,8 @@ xref: SCTID:700107006 {source="MONDO:equivalentTo"} xref: UMLS:C1866495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355727"} is_a: MONDO:0015231 {source="DC-OMIM:601678", source="DOID:0110142", source="MESH:C537652", source="MONDO:Redundant", source="OMIM:601678", source="Orphanet:620217", source="Orphanet:93604"} ! Bartter syndrome intersection_of: MONDO:0015231 ! Bartter syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10910 ! SLC12A1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10910 {source="MONDO:mim2gene_medgen"} ! SLC12A1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10910 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10910 {source="OMIM:601678"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -538943,7 +537383,6 @@ xref: UMLS:C0022951 {source="MEDGEN:6001", source="MONDO:equivalentTo", source=" is_a: MONDO:0005137 {source="EFO:1000062"} ! nutritional disorder is_a: MONDO:0019214 {source="DOID:10604", source="NCIT:C3154"} ! inborn carbohydrate metabolic disorder is_a: MONDO:0020598 ! malabsorption syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6949 {source="MONDO:mim2gene_medgen"} ! MCM6 property_value: IAO:0000589 "lactose intolerance (disease)" xsd:string [Term] @@ -538992,7 +537431,6 @@ intersection_of: MONDO:0002254 ! syndromic disease intersection_of: disease_has_feature MONDO:0005369 ! carcinoid tumor relationship: excluded_subClassOf MONDO:0005369 {source="EFO:1000852", source="https://orcid.org/0000-0001-5208-3432"} ! carcinoid tumor relationship: excluded_subClassOf MONDO:0015078 {source="Orphanet:100093", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete gastroenteropancreatic neuroendocrine neoplasm -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10683 {source="MONDO:mim2gene_medgen"} ! SDHD property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5994/carcinoid-syndrome" xsd:anyURI {source="GARD:0005994"} @@ -539012,7 +537450,6 @@ xref: UMLS:C5436783 {source="MEDGEN:1731507", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:619091"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: has_characteristic HP:0000007 {source="OMIM:619091"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7643 {source="OMIM:619091"} ! NARS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5167" xsd:anyURI @@ -539116,7 +537553,6 @@ is_a: MONDO:0100556 {source="PMID:33746883", source="https://rarediseases.org/ra intersection_of: MONDO:0044202 ! episodic kinesigenic dyskinesia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30500 ! PRRT2 relationship: excluded_subClassOf MONDO:0015427 {source="Orphanet:98809", source="https://orcid.org/0000-0001-5208-3432"} ! paroxysmal dyskinesia -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30500 {source="MONDO:mim2gene_medgen"} ! PRRT2 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6461" xsd:anyURI @@ -539331,7 +537767,6 @@ synonym: "RPE65-related recessive retinopathy" EXACT CLINGEN_LABEL [] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100368 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10294 {source="https://clinicalgenome.org/affiliation/40072/"} ! RPE65 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI [Term] @@ -540217,7 +538652,6 @@ intersection_of: MONDO:0008890 ! progressive bulbar palsy intersection_of: has_characteristic HP:0011463 ! Childhood onset relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16187 {source="OMIM:211500"} ! SLC52A3 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/127" xsd:anyURI @@ -540340,7 +538774,6 @@ xref: OMIM:255800 {source="MONDO:equivalentTo"} xref: UMLS:C4551479 {source="MEDGEN:1647990", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009717 {source="OMIM:255800"} ! Schwartz-Jampel syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100435 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5273 {source="OMIM:255800"} ! HSPG2 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -540358,6 +538791,7 @@ xref: MEDGEN:1648415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604307 {source="MONDO:equivalentTo", source="DOID:0110235"} xref: UMLS:C4721890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648415"} is_a: MONDO:0005129 {source="DOID:0110235", source="OMIM:60430", source="OMIM:604307"} ! cataract +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2410 {source="OMIM:604307"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3904" xsd:anyURI @@ -540472,7 +538906,6 @@ synonym: "retinal cone dystrophy 2" NARROW [DOID:0111011, https://clinicalgenome is_a: MONDO:0100454 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D retinopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100441 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI [Term] @@ -540491,7 +538924,6 @@ synonym: "RP2 retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliati synonym: "RP2 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100442 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10274 {source="https://clinicalgenome.org/affiliation/40072/"} ! RP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI [Term] @@ -540509,7 +538941,6 @@ synonym: "RDH5 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affi synonym: "retinitis punctata albescens" NARROW [DOID:11105, https://clinicalgenome.org/affiliation/40072/, OMIM:136880] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100443 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9940 {source="https://clinicalgenome.org/affiliation/40072/"} ! RDH5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI [Term] @@ -540534,7 +538965,6 @@ synonym: "Vasterbotten dystrophy" NARROW [DOID:0050683, https://clinicalgenome.o synonym: "Västerbotten dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, Orphanet:85128] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100444 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10024 {source="https://clinicalgenome.org/affiliation/40072/"} ! RLBP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI [Term] @@ -540554,7 +538984,6 @@ synonym: "Leber congenital amaurosis caused by mutation in LCA5" NARROW [https:/ synonym: "Leber congenital amaurosis type 5" NARROW [DOID:0110215, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:604537] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100445 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31923 {source="https://clinicalgenome.org/affiliation/40072/"} ! LCA5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI @@ -540587,7 +539016,6 @@ synonym: "rod monochromatism 1, formerly" NARROW [https://clinicalgenome.org/aff synonym: "total colorblindness with myopia" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:262300] is_a: MONDO:0019119 {source="https://clinicalgenome.org/affiliation/40072/"} ! muscular channelopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100446 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2153 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGB3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI [Term] @@ -540606,7 +539034,6 @@ synonym: "ATF6 retinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/ synonym: "ATF6-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100447 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/791 {source="https://clinicalgenome.org/affiliation/40072/"} ! ATF6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI @@ -540626,7 +539053,6 @@ synonym: "RAB28 cone-rod dystrophy" NARROW [https://clinicalgenome.org/affiliati synonym: "RAB28 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100448 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9768 {source="https://clinicalgenome.org/affiliation/40072/"} ! RAB28 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI [Term] @@ -540648,7 +539074,6 @@ synonym: "posterior column ataxia-retinitis pigmentosa syndrome" NARROW [https:/ is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy is_a: MONDO:0020046 {source="https://clinicalgenome.org/affiliation/40072/"} ! autosomal recessive degenerative and progressive cerebellar ataxia relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100449 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24682 {source="https://clinicalgenome.org/affiliation/40072/"} ! FLVCR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI [Term] @@ -540690,7 +539115,7 @@ is_a: MONDO:0700115 {source="https://clinicalgenome.org/affiliation/40072/"} ! p relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100450 {source="MONDO:CLINGEN"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0020248 {source="https://clinicalgenome.org/affiliation/40072/", source="https://orcid.org/0000-0001-5208-3432"} ! vitreoretinal degeneration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1482 {source="MONDO:mim2gene_medgen", source="https://clinicalgenome.org/affiliation/40072/"} ! CAPN5 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1482 {source="OMIM:193235"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4259" xsd:anyURI @@ -540731,7 +539156,6 @@ synonym: "Senior-Loken syndrome type 6" NARROW [https://clinicalgenome.org/affil synonym: "SLSN6" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:610189] is_a: MONDO:0005308 {source="https://clinicalgenome.org/affiliation/40072/"} ! ciliopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100451 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 {source="https://clinicalgenome.org/affiliation/40072/"} ! CEP290 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI [Term] @@ -540750,7 +539174,6 @@ is_a: MONDO:0000426 {source="DOID:0112144"} ! autosomal dominant disease is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100452 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10294 {source="https://clinicalgenome.org/affiliation/40072/"} ! RPE65 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI @@ -540784,7 +539207,6 @@ synonym: "retinal cone dystrophy 2" NARROW [DOID:0111011, https://clinicalgenome is_a: MONDO:0100454 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D retinopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100453 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -540796,7 +539218,6 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "retinopathy caused by mutation in GUCY2D" EXACT [MONDO:patterns/disease_series_by_gene] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI @@ -540853,7 +539274,6 @@ def: "Any syndrome in which the cause of the disease is a mutation in the MECOM subset: clingen {source="MONDO:CLINGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-7437-8060"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100458 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3498 {source="https://orcid.org/0000-0002-7437-8060"} ! MECOM property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3952" xsd:anyURI @@ -541162,7 +539582,7 @@ subset: clingen {source="MONDO:CLINGEN"} xref: OMIM:613735 {source="MONDO:equivalentTo"} is_a: MONDO:0005560 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! brain disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100478 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7784 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! NFIA +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7784 {source="OMIM:613735"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5361" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5521" xsd:anyURI @@ -541291,7 +539711,6 @@ subset: rare synonym: "TPM4-related platelet dysfunction with or without thrombocytopenia" EXACT [] is_a: MONDO:0002245 {source="https://clinicalgenome.org/affiliation/40028/"} ! blood platelet disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100487 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12013 {source="https://clinicalgenome.org/affiliation/40028/"} ! TPM4 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4541" xsd:anyURI @@ -541309,7 +539728,6 @@ synonym: "HDGC" EXACT ABBREVIATION [OMIM:137215] synonym: "LBC" EXACT ABBREVIATION [OMIM:137215] xref: OMIM:137215 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="https://www.clinicalgenome.org/affiliation/50014/"} ! inherited disease susceptibility -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1748 {source="OMIM:137215", source="https://www.clinicalgenome.org/affiliation/50014/"} ! CDH1 relationship: predisposes_towards MONDO:0000552 {source="https://www.clinicalgenome.org/affiliation/50014/"} ! breast lobular carcinoma relationship: predisposes_towards MONDO:0018502 {source="https://www.clinicalgenome.org/affiliation/50014/"} ! hereditary gastric cancer property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -541490,7 +539908,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0020573 {source="https://clinicalgenome.org/affiliation/40023/"} ! inherited disease susceptibility relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100502 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8028 {source="https://clinicalgenome.org/affiliation/40023/"} ! NTHL1 relationship: predisposes_towards MONDO:0005070 {source="https://clinicalgenome.org/affiliation/40023/"} ! neoplasm [Term] @@ -541498,7 +539915,6 @@ id: MONDO:0100503 name: DPH5-related diphthamide-deficiency syndrome def: "A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene, which is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages." [PMID:35482014] is_a: MONDO:0700092 {source="PMID:35482014"} ! neurodevelopmental disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24270 ! DPH5 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5178" xsd:anyURI @@ -541643,7 +540059,6 @@ def: "Any Mendelian disease in which the cause of the disease is a mutation in t subset: clingen {source="MONDO:CLINGEN"} is_a: MONDO:0003847 {source="https://clinicalgenome.org/affiliation/40080/"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100513 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12033 {source="https://clinicalgenome.org/affiliation/40080/"} ! TRAF3 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6299" xsd:anyURI @@ -541734,7 +540149,6 @@ subset: clingen {source="MONDO:CLINGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100520 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11825 {source="PMID:9565498", source="https://orcid.org/0009-0009-9147-3105"} ! NKX2-1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6296" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI @@ -541748,7 +540162,6 @@ comment: Lumping the subtypes described above into one disease entity is justifi synonym: "NOG-SSD" EXACT ABBREVIATION [PMID:21538686] is_a: MONDO:0000151 {source="https://orcid.org/0000-0001-5208-3432"} ! symphalangism relationship: has_characteristic HP:0000006 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! NOG property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6338" xsd:anyURI @@ -541770,6 +540183,7 @@ xref: MESH:C567718 {source="MONDO:equivalentTo"} xref: OMIM:146550 {source="MONDO:equivalentTo"} xref: UMLS:C2750815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413053"} is_a: MONDO:0018631 {source="https://orcid.org/0000-0001-5493-2602"} ! Marie Unna hereditary hypotrichosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/55085 {source="OMIM:146550"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6357" xsd:anyURI @@ -541778,7 +540192,6 @@ id: MONDO:0100523 name: SPAST-related motor disorder def: "Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity," [https://clinicalgenome.org/affiliation/40006/] is_a: MONDO:0002602 {source="https://clinicalgenome.org/affiliation/40006/"} ! central nervous system disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11233 {source="https://clinicalgenome.org/affiliation/40006/"} ! SPAST property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6279" xsd:anyURI @@ -541893,6 +540306,7 @@ xref: NCIT:C168730 {source="MONDO:equivalentTo"} xref: OMIM:310300 {source="MONDO:equivalentTo"} xref: UMLS:C5243475 {source="MEDGEN:1720295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010680 {source="OMIM:310300"} ! X-linked Emery-Dreifuss muscular dystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3331 {source="OMIM:310300"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6738" xsd:anyURI @@ -541969,7 +540383,6 @@ synonym: "plasminogen deficiency, type 2" EXACT [OMIM:217090] xref: OMIM:217090 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0002242 {source="OMIM:217090"} ! coagulation protein disease is_a: MONDO:0003847 {source="OMIM:217090"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9071 {source="OMIM:217090"} ! PLG property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7100" xsd:anyURI @@ -541983,7 +540396,6 @@ xref: OMIM:217090 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C4225445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904685"} is_a: MONDO:0002242 {source="OMIM:217090"} ! coagulation protein disease is_a: MONDO:0003847 {source="OMIM:217090"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9071 {source="OMIM:217090"} ! PLG property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7100" xsd:anyURI @@ -542003,7 +540415,6 @@ name: GATA6-related congenital heart disease with or without pancreatic agenesis def: "A congenital heart disease that is present at birth. Representative examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes." [https://clinicalgenome.org/affiliation/40130/, PMID:19666519, PMID:23020118, PMID:25937001, PMID:28049534, PMID:29653232, PMID:31301121, PMID:35595280] synonym: "GATA6 related congenital heart disease with or without pancreatic agenesis or neonatal diabetes" EXACT [https://clinicalgenome.org/affiliation/40130/] is_a: MONDO:0005453 {source="https://clinicalgenome.org/affiliation/40130/"} ! congenital heart disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4174 {source="https://clinicalgenome.org/affiliation/40130/"} ! GATA6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7218" xsd:anyURI [Term] @@ -542134,7 +540545,6 @@ subset: inferred_rare subset: rare synonym: "AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss" EXACT [https://orcid.org/0000-0001-5208-3432] is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28762 {source="https://clinicalgenome.org/affiliation/40006/"} ! AFG2B property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7317" xsd:anyURI @@ -542159,7 +540569,6 @@ xref: MEDGEN:78669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:85447 {source="MONDO:equivalentTo"} xref: UMLS:C0268384 {source="MEDGEN:78669", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0007100 {source="Orphanet:85447"} ! familial amyloid neuropathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12405 {source="Orphanet:85447", source="https://orcid.org/0000-0002-0587-4693"} ! TTR property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7330" xsd:anyURI @@ -542210,7 +540619,6 @@ id: MONDO:0100556 name: PRRT2-associated paroxysmal movement disorder def: "A group of rare movement and seizure disorders caused by changes (disease-causing variants or mutations) in the PRRT2 gene. They include a spectrum of specific disorders including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizure conditions, such as paroxysmal torticollis, episodic ataxia and familial paroxysmal non-kinesigenic dyskinesia. It’s important to note that these disorders can also have different genetic causes." [https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/#references, PMID:32916768, PMID:33746883] is_a: MONDO:0005395 {source="https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/#references"} ! movement disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30500 {source="https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/#references"} ! PRRT2 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6461" xsd:anyURI @@ -542229,7 +540637,6 @@ id: MONDO:0100558 name: RNU4ATAC spectrum disorder def: "A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome." [https://clinicalgenome.org/affiliation/40065/] is_a: MONDO:0002254 {source="https://clinicalgenome.org/affiliation/40065/"} ! syndromic disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34016 {source="https://clinicalgenome.org/affiliation/40065/"} ! RNU4ATAC property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7497" xsd:anyURI @@ -542372,7 +540779,6 @@ def: "A spectrum of conditions, including dyskeratosis congenita, Hoyeraal-Hreid subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0800469 {source="https://orcid.org/0009-0007-0138-2054"} ! ACD-related telomere biology disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25070 {source="https://orcid.org/0009-0007-0138-2054"} ! ACD property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7605" xsd:anyURI @@ -542383,7 +540789,6 @@ def: "A telomere biology disorder typically characterized by increased telomere subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0800469 {source="https://orcid.org/0009-0007-0138-2054"} ! ACD-related telomere biology disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25070 {source="https://orcid.org/0009-0007-0138-2054"} ! ACD property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7605" xsd:anyURI @@ -542392,7 +540797,6 @@ id: MONDO:0100571 name: CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy def: "Any neurodevelopmental disorder and/or exudative vitreoretinopathy caused by a monoallelic variant in the CTNNB1 gene. Variants in CTNNB1 are related to a neurodevelopmental condition with a broad spectrum of presentations ranging from isolated vitreoretinopathy to a complex neurodevelopmental disorder with mild to severe intellectual disability, microcephaly, spasticity, autism spectrum disorder, and visual defects, including retinal detachment, and abnormal retinal vascularization." [https://clinicalgenome.org/affiliation/40006/] is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2514 {source="https://clinicalgenome.org/affiliation/40006/"} ! CTNNB1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7572" xsd:anyURI @@ -542403,7 +540807,6 @@ def: "Any overgrowth syndrome in which the cause of the disease is a pathogenic subset: inferred_rare subset: rare is_a: MONDO:0019716 {source="https://clinicalgenome.org/affiliation/50020/"} ! overgrowth syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3942 {source="https://clinicalgenome.org/affiliation/50020/"} ! MTOR property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7717" xsd:anyURI @@ -542557,7 +540960,6 @@ synonym: "glutaminase deficiency" EXACT CLINGEN_LABEL [] is_a: MONDO:0017352 {source="PMID:30575854", source="PMID:30970188"} ! disorder of glutamine metabolism is_a: MONDO:0019052 {source="PMID:30575854", source="PMID:30970188"} ! inborn errors of metabolism relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0600001 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4331 {source="PMID:30575854", source="PMID:30970188"} ! GLS property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025 [Term] @@ -543305,7 +541707,6 @@ is_a: MONDO:0020573 {source="OMIM:613013"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9143 ! PHOX2B intersection_of: predisposes_towards MONDO:0005072 ! neuroblastoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9143 {source="OMIM:613013"} ! PHOX2B relationship: predisposes_towards MONDO:0005072 {source="OMIM:613013"} ! neuroblastoma property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 @@ -543335,7 +541736,6 @@ subset: inferred_rare subset: rare is_a: MONDO:0100153 {source="https://clinicalgenome.org/affiliation/40006/"} ! tubulinopathy is_a: MONDO:0100516 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder with motor features -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12412 {source="https://clinicalgenome.org/affiliation/40006/"} ! TUBB2A property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5700" xsd:string @@ -543982,7 +542382,6 @@ xref: UMLS:C2931206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1 intersection_of: MONDO:0019501 ! Usher syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7606 ! MYO7A -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7606 {source="OMIM:276900"} ! MYO7A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -544038,8 +542437,8 @@ is_a: MONDO:0015427 {source="MONDO:Redundant", source="Orphanet:98810"} ! paroxy is_a: MONDO:0044807 {source="DOID:0090049", source="MONDO:Redundant", source="OMIM:118800"} ! inherited dystonia is_a: MONDO:0700088 {source="Orphanet:98810"} ! paroxysmal nonkinesigenic dyskinesia intersection_of: MONDO:0015427 ! paroxysmal dyskinesia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9153 ! PNKD -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9153 {source="MONDO:mim2gene_medgen"} ! PNKD +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9153 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9153 {source="OMIM:118800"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] @@ -544058,7 +542457,7 @@ xref: NCIT:C141441 {source="MONDO:equivalentTo"} xref: OMIM:600512 {source="MONDO:equivalentTo"} xref: UMLS:C4551957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643229"} is_a: MONDO:0010898 {source="Orphanet:101046"} ! autosomal dominant epilepsy with auditory features -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6572 {source="OMIM:600512"} ! LGI1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6572 {source="OMIM:600512"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2614" xsd:anyURI @@ -544289,7 +542688,8 @@ xref: UMLS:C3495537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:270100"} ! hereditary disease is_a: MONDO:0018677 {source="OMIM:270100"} ! visceral heterotaxy intersection_of: MONDO:0018677 ! visceral heterotaxy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7865 ! NODAL +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7865 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7865 {source="OMIM:270100"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2826" xsd:anyURI @@ -544331,7 +542731,6 @@ def: "A brain disorder caused by biallelic variants in NDE1 that is characterize subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0001149 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! microcephaly -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17619 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! NDE1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5582" xsd:anyURI @@ -544349,7 +542748,6 @@ synonym: "DTDS" EXACT ABBREVIATION [GARD:0010484] xref: DOID:0070487 {source="MONDO:equivalentTo"} is_a: MONDO:0005395 {source="DOID:0070487", source="PMID:21112253", source="PMID:24613933", source="PMID:28749637", source="https://clinicalgenome.org/affiliation/40097/"} ! movement disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0700117 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11049 {source="https://clinicalgenome.org/affiliation/40097/"} ! SLC6A3 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5523" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10484/infantile-parkinsonism-dystonia" xsd:anyURI {source="GARD:0010484"} @@ -544397,7 +542795,6 @@ id: MONDO:0700121 name: ACTL6A-related BAFopathy def: "Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene." [MONDO:patterns/OMIM_disease_series_by_gene, PMID:30580808] is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24124 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! ACTL6A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI [Term] @@ -544405,7 +542802,6 @@ id: MONDO:0700122 name: PBRM1-related BAFopathy def: "Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene." [MONDO:patterns/OMIM_disease_series_by_gene, PMID:30580808] is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30064 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! PBRM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI [Term] @@ -544416,7 +542812,6 @@ subset: clingen {source="MONDO:CLINGEN"} synonym: "SMARCC1-related BAFopathy" EXACT [PMID:30580808] is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0700123 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11104 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! SMARCC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6196" xsd:anyURI @@ -545723,7 +544118,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "BEST1-related dominant retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -545735,7 +544129,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "BEST1-related recessive retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -545748,7 +544141,6 @@ subset: rare synonym: "ADVRIC" EXACT [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/, PMID:18611979, PMID:36712704] synonym: "BEST1-related vitreoretinochoroidopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] is_a: MONDO:0020248 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! vitreoretinal degeneration -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -545760,7 +544152,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "IMPG2-related recessive retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! IMPG2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -545772,7 +544163,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "IMPG2-related dominant retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! IMPG2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] @@ -546167,8 +544557,9 @@ xref: OMIM:614163 {source="MONDO:equivalentTo"} xref: UMLS:C3279991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481621"} is_a: MONDO:0020573 {source="OMIM:614163"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2384 ! CRY1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2384 intersection_of: predisposes_towards MONDO:0024361 ! circadian rhythm sleep disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2384 {source="OMIM:614163"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-8314-2140 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2863" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -546327,7 +544718,6 @@ xref: UMLS:C5551343 {source="MEDGEN:1790407", source="MONDO:equivalentTo", sourc is_a: MONDO:0005395 {source="MONDO:0017657-obsoleted"} ! movement disorder is_a: MONDO:0031115 {source="OMIM:606703"} ! dyskinesia with orofacial involvement relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/236 {source="MONDO:mim2gene_medgen"} ! ADCY5 [Term] id: MONDO:0800029 @@ -546410,8 +544800,9 @@ xref: UMLS:C5680044 {source="MONDO:equivalentTo", source="MEDGEN:1806192", sourc is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0030831 {source="OMIM:243150"} ! gastrointestinal defect and immunodeficiency syndrome intersection_of: MONDO:0030831 ! gastrointestinal defect and immunodeficiency syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19750 ! TTC7A +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19750 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19750 {source="OMIM:243150"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4167" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -546612,7 +545003,7 @@ is_a: MONDO:0009717 {source="OMIM:601559"} ! Schwartz-Jampel syndrome is_a: MONDO:0019698 {source="Orphanet:3206", source="PMID:31633310"} ! bent bone dysplasia is_a: MONDO:0031280 {source="OMIM:601559"} ! Stuve-Wiedemann syndrome relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6597 {source="MONDO:mim2gene_medgen"} ! LIFR +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6597 {source="OMIM:601559"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4864" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -546659,7 +545050,7 @@ relationship: disease_has_basis_in_disruption_of GO:0000224 ! peptide-N4-(N-acet relationship: disease_has_basis_in_disruption_of GO:0006517 ! protein deglycosylation relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:404454", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17646 {source="MONDO:mim2gene_medgen"} ! NGLY1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17646 {source="OMIM:615273"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4864" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -546687,7 +545078,7 @@ is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease is_a: MONDO:0019751 {source="OMIM:616744"} ! autoinflammatory syndrome is_a: MONDO:0031384 {source="OMIM:616744"} ! autoinflammatory syndrome, familial, Behcet-like relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11896 {source="MONDO:mim2gene_medgen"} ! TNFAIP3 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11896 {source="OMIM:616744"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4864" xsd:anyURI [Term] @@ -546711,7 +545102,7 @@ xref: Orphanet:171706 {source="MONDO:equivalentTo", source="OMIM:609698"} xref: UMLS:C5676891 {source="MEDGEN:1801974", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016412 {source="Orphanet:171706"} ! peripheral hypothyroidism is_a: MONDO:0031432 {source="OMIM:609698", source="https://orcid.org/0000-0001-5493-2602"} ! thyroid hormone metabolism, abnormal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30972 {source="MONDO:mim2gene_medgen"} ! SECISBP2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30972 {source="OMIM:609698"} [Term] id: MONDO:0800047 @@ -546737,10 +545128,10 @@ xref: UMLS:C5676892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015372 {source="MONDO:Redundant", source="Orphanet:140957/btnt"} ! autosomal dominant macrothrombocytopenia is_a: MONDO:0031447 {source="DOID:0090102", source="MESH:C567747", source="MONDO:Redundant", source="MONDO:indirect", source="OMIM:613112"} ! macrothrombocytopenia, isolated intersection_of: MONDO:0015372 ! autosomal dominant macrothrombocytopenia -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16257 ! TUBB1 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16257 relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800047 {source="MONDO:CLINGEN"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16257 {source="MONDO:mim2gene_medgen"} ! TUBB1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16257 {source="OMIM:613112"} [Term] id: MONDO:0800063 @@ -546986,7 +545377,6 @@ synonym: "SNRNP200 retinitis pigmentosa" NARROW [https://clinicalgenome.org/affi synonym: "SNRNP200-related dominant retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800098 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30859 {source="https://clinicalgenome.org/affiliation/40072/"} ! SNRNP200 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI [Term] @@ -547005,7 +545395,6 @@ synonym: "RDH12-related recessive retinopathy" EXACT CLINGEN_LABEL [https://clin synonym: "retinitis pigmentosa 53" RELATED [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800099 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19977 {source="https://clinicalgenome.org/affiliation/40072/"} ! RDH12 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI [Term] @@ -547016,7 +545405,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "RDH12-related dominant retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19977 {source="https://clinicalgenome.org/affiliation/40072/"} ! RDH12 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI [Term] @@ -547038,7 +545426,6 @@ synonym: "SHILCA Syndrome" NARROW [https://clinicalgenome.org/affiliation/40072/ synonym: "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis" NARROW [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800101 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17877 {source="https://clinicalgenome.org/affiliation/40072/"} ! NMNAT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI [Term] @@ -547060,7 +545447,6 @@ synonym: "rod monochromacy 2" NARROW [https://clinicalgenome.org/affiliation/400 synonym: "rod monochromatism 2" NARROW [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800102 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2150 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGA3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI [Term] @@ -547096,7 +545482,7 @@ xref: OMIM:619924 {source="MONDO:equivalentTo"} xref: UMLS:C5677005 {source="MEDGEN:1809425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:619924"} ! immunodeficiency disease is_a: MONDO:0031520 {source="OMIM:619924"} ! familial severe combined immunodeficiency -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9666 {source="OMIM:619924"} ! PTPRC +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9666 {source="OMIM:619924"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5160" xsd:anyURI [Term] @@ -547339,6 +545725,7 @@ xref: MEDGEN:1784363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619375 {source="MONDO:equivalentTo"} xref: UMLS:C5543547 {source="MEDGEN:1784363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019751 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! autoinflammatory syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19383 {source="OMIM:619375"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -547362,6 +545749,7 @@ xref: MEDGEN:1803642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619858 {source="MONDO:equivalentTo"} xref: UMLS:C5676977 {source="MEDGEN:1803642", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2960 {source="OMIM:619858"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -547802,7 +546190,6 @@ subset: rare is_a: MONDO:0005328 {source="https://clinicalgenome.org/affiliation/40077/", source="https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! eye disorder is_a: MONDO:0100534 {source="https://clinicalgenome.org/affiliation/40077/", source="https://orcid.org/0000-0001-5935-2391"} ! SMARCB1-deficient kidney medullary carcinoma relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800183 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8620 {source="https://clinicalgenome.org/affiliation/40077/", source="https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! PAX6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5477" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7066" xsd:anyURI @@ -548266,7 +546653,7 @@ xref: OMIM:620681 {source="MONDO:equivalentTo"} xref: UMLS:C1850764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340621"} is_a: MONDO:0009697 {source="OMIM:620681"} ! Lafora disease is_a: MONDO:0020074 {source="https://orcid.org/0000-0001-5208-3432"} ! progressive myoclonus epilepsy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21576 {source="OMIM:620681"} ! NHLRC1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21576 {source="OMIM:620681"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7393" xsd:anyURI @@ -549105,7 +547492,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800391 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21555 {source="https://clinicalgenome.org/affiliation/40072/"} ! EYS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -549117,7 +547503,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800392 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4394 {source="https://clinicalgenome.org/affiliation/40072/"} ! GNAT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -549129,7 +547514,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800393 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5385 {source="https://clinicalgenome.org/affiliation/40072/"} ! IDH3B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -549141,7 +547525,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800394 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7027 {source="https://clinicalgenome.org/affiliation/40072/"} ! MERTK property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -549153,7 +547536,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800395 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15446 {source="https://clinicalgenome.org/affiliation/40072/"} ! PRPF31 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -549165,7 +547547,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800396 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31371 {source="https://clinicalgenome.org/affiliation/40072/"} ! GPR179 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -549177,7 +547558,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800397 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4598 {source="https://clinicalgenome.org/affiliation/40072/"} ! GRM6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -549189,7 +547569,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800398 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/216 {source="https://clinicalgenome.org/affiliation/40072/"} ! ADAM9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -549202,7 +547581,6 @@ subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800399 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal recessive inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10263 {source="https://clinicalgenome.org/affiliation/40072/"} ! RP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -549215,7 +547593,6 @@ subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800400 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10263 {source="https://clinicalgenome.org/affiliation/40072/"} ! RP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -549227,7 +547604,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800401 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21699 {source="https://clinicalgenome.org/affiliation/40072/"} ! CERKL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -549239,7 +547615,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800402 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7146 {source="https://clinicalgenome.org/affiliation/40072/"} ! TRPM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -549251,7 +547626,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800403 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2151 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -549274,7 +547648,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800405 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2148 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI [Term] @@ -549287,7 +547660,6 @@ subset: otar {source="MONDO:OTAR"} subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800406 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34 {source="https://clinicalgenome.org/affiliation/40072/"} ! ABCA4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6138" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6168" xsd:anyURI @@ -549301,7 +547673,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800407 {source="MONDO:CLINGEN"} -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8082 {source="https://clinicalgenome.org/affiliation/40072/"} ! NYX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6169" xsd:anyURI @@ -549610,6 +547981,7 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1394", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:1394", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete dysostosis of genetic origin +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18188 {source="OMIM:213980"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5619" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1210/cerebro-facio-thoracic-dysplasia" xsd:anyURI {source="GARD:0001210"} @@ -549641,7 +548013,7 @@ is_a: MONDO:0031415 {source="OMIM:254940"} ! Carey-Fineman-Ziter syndrome relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:1358", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: excluded_subClassOf MONDO:0015335 {source="Orphanet:1358", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete Mendelian syndromes with cleft lip/palate -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33778 {source="MONDO:mim2gene_medgen"} ! MYMK +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33778 {source="OMIM:254940"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5619" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6049" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3889/carey-fineman-ziter-syndrome" xsd:anyURI {source="GARD:0003889"} @@ -549670,7 +548042,7 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:459061", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:459061", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete dysostosis of genetic origin -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3003 {source="MONDO:mim2gene_medgen"} ! DPH1 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3003 {source="OMIM:616901"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -549692,7 +548064,6 @@ name: HAND1 related congenital heart defect def: "A heart disease that is present at birth caused by a variation in HAND1. Representative examples include ventricular septal defect, tetralogy of Fallot, and double outlet right ventricle." [https://clinicalgenome.org/affiliation/40130/, PMID:22032825, PMID:27942761, PMID:28112363] synonym: "HAND1-related congenital heart defect" EXACT [https://orcid.org/0000-0001-5208-3432] is_a: MONDO:0005453 {source="https://clinicalgenome.org/affiliation/40130/"} ! congenital heart disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4807 {source="https://clinicalgenome.org/affiliation/40130/"} ! HAND1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6224" xsd:anyURI [Term] @@ -549707,7 +548078,6 @@ is_a: MONDO:0000992 {source="https://clinicalgenome.org/affiliation/40130/"} ! h is_a: MONDO:0004994 {source="https://clinicalgenome.org/affiliation/40130/"} ! cardiomyopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800441 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021140 {source="https://clinicalgenome.org/affiliation/40130/"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 {source="https://clinicalgenome.org/affiliation/40130/"} ! NKX2-5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6225" xsd:anyURI [Term] @@ -549716,7 +548086,6 @@ name: MYH-6 related congenital heart defects def: "A heart disease that is present at birth that is caused by a variation in MYH-6. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot and hypoplastic left heart syndrome." [https://clinicalgenome.org/affiliation/40130/, PMID:15735645, PMID:20656787, PMID:22194935, PMID:29505555, PMID:29590334, PMID:29969989, PMID:31638415, PMID:34384224, PMID:34481090, PMID:35863714] synonym: "MYH6 related congenital heart defects" EXACT [https://orcid.org/0000-0001-5208-3432] is_a: MONDO:0000119 {source="https://clinicalgenome.org/affiliation/40130/"} ! congenital heart defects, multiple types -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 {source="https://clinicalgenome.org/affiliation/40130/"} ! MYH6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6226" xsd:anyURI [Term] @@ -549726,7 +548095,6 @@ def: "A neurodevelopmental disorder characterized predominantly by intellectual subset: inferred_rare subset: rare is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14677 {source="https://clinicalgenome.org/affiliation/40006/"} ! DEAF1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6228" xsd:anyURI [Term] @@ -549782,7 +548150,6 @@ xref: MEDGEN:1678745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:220443 {source="MONDO:equivalentTo", source="OMIM:614009"} xref: UMLS:C5190857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678745"} is_a: MONDO:0000009 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited bleeding disorder, platelet-type -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11608 {source="MONDO:mim2gene_medgen", source="Orphanet:220443"} ! TBXA2R property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6419" xsd:string [Term] @@ -549797,7 +548164,7 @@ xref: MEDGEN:481244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614009 {source="Orphanet:220443", source="MONDO:equivalentTo", source="Orphanet:220443/e"} xref: UMLS:C3279614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481244"} is_a: MONDO:0020573 {source="OMIM:614009"} ! inherited disease susceptibility -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11608 {source="MONDO:mim2gene_medgen"} ! TBXA2R +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11608 {source="OMIM:614009"} relationship: predisposes_towards MONDO:0800446 {source="OMIM:614009"} ! bleeding diathesis due to thromboxane synthesis deficiency property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6419" xsd:string @@ -549927,7 +548294,6 @@ intersection_of: MONDO:0800451 ! congenital amegakaryocytic thrombocytopenia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7217 ! MPL relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7217 {source="MONDO:mim2gene_medgen"} ! MPL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6622" xsd:anyURI @@ -549967,6 +548333,7 @@ xref: MEDGEN:1841312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620459 {source="MONDO:equivalentTo"} xref: UMLS:C5830676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841312"} is_a: MONDO:0800444 {source="OMIM:620459"} ! Birt-Hogg-Dube syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13995 {source="OMIM:620459"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6546" xsd:anyURI @@ -549999,7 +548366,6 @@ synonym: "COUPTFII-related multiple congenital anomalies/dysmorphic syndrome" EX synonym: "NR2F2 related multiple congenital anomalies/dysmorphic syndrome" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40130/] synonym: "TCOUP2-related multiple congenital anomalies/dysmorphic syndrome" EXACT [https://clinicalgenome.org/affiliation/40130/] is_a: MONDO:0019042 {source="https://clinicalgenome.org/affiliation/40130/"} ! multiple congenital anomalies/dysmorphic syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7976 {source="https://clinicalgenome.org/affiliation/40130/"} ! NR2F2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6666" xsd:anyURI [Term] @@ -550024,7 +548390,6 @@ synonym: "ASAH1-related disorders" EXACT CLINGEN_LABEL [https://clinicalgenome.o is_a: MONDO:0019052 {source="PMID:29595935", source="https://clinicalgenome.org/affiliation/40060/"} ! inborn errors of metabolism intersection_of: OGMS:0000031 ! disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/735 ! ASAH1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/735 {source="PMID:29595935", source="https://clinicalgenome.org/affiliation/40060/"} ! ASAH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI [Term] @@ -550036,7 +548401,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar intersection_of: OGMS:0000031 ! disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2202 ! COL4A1 relationship: excluded_subClassOf MONDO:0005385 {source="PMID:20301768", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! vascular disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2202 {source="PMID:20301768", source="https://clinicalgenome.org/affiliation/40060/"} ! COL4A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI [Term] @@ -550049,7 +548413,6 @@ synonym: "FHL1-related myopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org is_a: MONDO:0005336 {source="https://clinicalgenome.org/affiliation/40060/"} ! myopathy intersection_of: MONDO:0005336 ! myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 ! FHL1 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 {source="https://clinicalgenome.org/affiliation/40060/"} ! FHL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI [Term] @@ -550062,7 +548425,6 @@ synonym: "KIF7-related ciliopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.o is_a: MONDO:0005308 {source="PMID:21552264", source="PMID:230301500", source="https://clinicalgenome.org/affiliation/40060/"} ! ciliopathy intersection_of: MONDO:0005308 ! ciliopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30497 ! KIF7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30497 {source="PMID:21552264", source="PMID:230301500", source="https://clinicalgenome.org/affiliation/40060/"} ! KIF7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI [Term] @@ -550073,7 +548435,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "SQSTM1-related multisystem proteinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40060/, PMID:33145792] is_a: MONDO:0021179 {source="PMID:33145792", source="https://clinicalgenome.org/affiliation/40060/"} ! proteostasis deficiencies -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="PMID:33145792", source="https://clinicalgenome.org/affiliation/40060/"} ! SQSTM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI [Term] @@ -550086,7 +548447,6 @@ synonym: "CTSC-related disorder" EXACT CLINGEN_LABEL [https://clinicalgenome.org is_a: MONDO:0019287 {source="https://clinicalgenome.org/affiliation/40060/"} ! ectodermal dysplasia syndrome intersection_of: OGMS:0000031 ! disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2528 ! CTSC -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2528 {source="https://clinicalgenome.org/affiliation/40060/"} ! CTSC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI [Term] @@ -550126,7 +548486,6 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "ACD-related telomeropathy" EXACT [https://orcid.org/0009-0007-0138-2054] is_a: MONDO:0100137 {source="https://orcid.org/0009-0007-0138-2054"} ! telomere syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25070 {source="https://orcid.org/0009-0007-0138-2054"} ! ACD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7605" xsd:anyURI [Term] @@ -550136,7 +548495,6 @@ def: "Any neurologic condition in which the cause of the disease is a mutation i subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0024237 {source="PMID:28973395", source="PMID:35275727", source="https://orcid.org/0000-0002-0505-2091"} ! inherited neurodegenerative disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20774 {source="PMID:28973395", source="PMID:35275727", source="https://orcid.org/0000-0002-0505-2091"} ! TUBB4A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6821" xsd:anyURI [Term] @@ -550146,7 +548504,6 @@ def: "Any primary congenital glaucoma in which the cause of the disease is a mut subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0000365 {source="PMID:23767995", source="PMID:24099281", source="PMID:9097971", source="https://clinicalgenome.org/affiliation/40077/"} ! primary congenital glaucoma -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2597 {source="PMID:23767995", source="PMID:24099281", source="PMID:9097971", source="https://clinicalgenome.org/affiliation/40077/"} ! CYP1B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6783" xsd:anyURI [Term] @@ -550166,7 +548523,6 @@ synonym: "NACC1-related neurodevelopmental disorder with epilepsy, cataracts and is_a: MONDO:0001071 {source="https://clinicalgenome.org/affiliation/40006/"} ! intellectual disability is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder is_a: MONDO:0700092 {source="https://clinicalgenome.org/affiliation/40006/"} ! neurodevelopmental disorder -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20967 {source="https://clinicalgenome.org/affiliation/40006/"} ! NACC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6700" xsd:anyURI [Term] @@ -550192,7 +548548,6 @@ name: SETD2-related neurodevelopmental disorder without or with macrocephaly/ove def: "A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features." [https://clinicalgenome.org/affiliation/40006/] synonym: "SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40006/] is_a: MONDO:0001071 {source="https://clinicalgenome.org/affiliation/40006/"} ! intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18420 {source="https://clinicalgenome.org/affiliation/40006/"} ! SETD2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6599" xsd:anyURI [Term] @@ -550271,7 +548626,6 @@ synonym: "PRKAG2 cardiomyopathy" EXACT [https://orcid.org/0009-0007-0138-2054, h synonym: "PRKAG2 syndrome" EXACT [https://orcid.org/0009-0007-0138-2054, https://www.clinicalgenome.org/affiliation/40104/, PMID:29298659] synonym: "PRKAG2-related cardiomyopathy" EXACT CLINGEN_LABEL [https://orcid.org/0009-0007-0138-2054, https://www.clinicalgenome.org/affiliation/40104/, PMID:29298659] is_a: MONDO:0005217 {source="PMID:29298659", source="https://orcid.org/0009-0007-0138-2054", source="https://www.clinicalgenome.org/affiliation/40104/"} ! familial cardiomyopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 {source="PMID:29298659", source="https://orcid.org/0009-0007-0138-2054", source="https://www.clinicalgenome.org/affiliation/40104/"} ! PRKAG2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6446" xsd:anyURI [Term] @@ -550281,7 +548635,6 @@ def: "Any overgrowth syndrome where the cause of the disease is a gain-of-functi subset: gard_rare {source="MONDO:GARD"} subset: rare is_a: MONDO:0019716 {source="https://clinicalgenome.org/affiliation/50020/"} ! overgrowth syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/393 {source="https://clinicalgenome.org/affiliation/50020/"} ! AKT3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7599" xsd:anyURI [Term] @@ -552013,6 +550366,7 @@ xref: OMIM:619297 {source="MONDO:equivalentTo"} xref: UMLS:C5543317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779339"} is_a: MONDO:0000426 {source="DOID:0112383"} ! autosomal dominant disease is_a: MONDO:0002254 {source="DOID:0112383"} ! syndromic disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6473 {source="OMIM:619297"} [Term] id: MONDO:0851100 @@ -552484,6 +550838,7 @@ xref: MEDGEN:1823953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301094 {source="MONDO:equivalentTo"} xref: UMLS:C5774179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823953"} is_a: MONDO:0700092 {source="OMIM:301094"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11616 {source="OMIM:301094"} [Term] id: MONDO:0859086 @@ -552507,6 +550862,7 @@ xref: OMIM:619268 {source="MONDO:equivalentTo"} xref: UMLS:C5543274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1782127"} is_a: MONDO:0700092 {source="OMIM:619268"} ! neurodevelopmental disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0859136 {source="MONDO:CLINGEN"} +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25551 {source="OMIM:619268"} [Term] id: MONDO:0859137 @@ -552515,6 +550871,7 @@ xref: MEDGEN:1781371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619286 {source="MONDO:equivalentTo"} xref: UMLS:C5543306 {source="MEDGEN:1781371", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619286"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2377 {source="OMIM:619286"} [Term] id: MONDO:0859139 @@ -552541,6 +550898,7 @@ xref: MEDGEN:1786150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619306 {source="MONDO:equivalentTo"} xref: UMLS:C5543332 {source="MEDGEN:1786150", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619306"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24968 {source="OMIM:619306"} [Term] id: MONDO:0859142 @@ -552549,6 +550907,7 @@ xref: MEDGEN:1785187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619311 {source="MONDO:equivalentTo"} xref: UMLS:C5543338 {source="MONDO:equivalentTo", source="MEDGEN:1785187", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619311"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9839 {source="OMIM:619311"} [Term] id: MONDO:0859143 @@ -552563,6 +550922,7 @@ xref: OMIM:619312 {source="MONDO:equivalentTo"} xref: Orphanet:662234 {source="MONDO:equivalentTo"} xref: UMLS:C5543339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778557"} is_a: MONDO:0003847 {source="OMIM:619312"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17575 {source="OMIM:619312"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6860" xsd:anyURI [Term] @@ -552575,6 +550935,7 @@ xref: MEDGEN:1788293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619314 {source="MONDO:equivalentTo"} xref: UMLS:C5543351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788293"} is_a: MONDO:0003847 {source="OMIM:619314"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10857 {source="OMIM:619314"} [Term] id: MONDO:0859146 @@ -552583,6 +550944,7 @@ xref: MEDGEN:1784590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619321 {source="MONDO:equivalentTo"} xref: UMLS:C5543375 {source="MEDGEN:1784590", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619321"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13051 {source="OMIM:619321"} [Term] id: MONDO:0859147 @@ -552604,6 +550966,7 @@ xref: MEDGEN:1784299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619323 {source="MONDO:equivalentTo"} xref: UMLS:C5543395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1784299"} is_a: MONDO:0700092 {source="OMIM:619323"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29183 {source="OMIM:619323"} [Term] id: MONDO:0859149 @@ -552612,6 +550975,7 @@ xref: MEDGEN:1783778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619324 {source="MONDO:equivalentTo"} xref: UMLS:C5543398 {source="MEDGEN:1783778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005347 {source="OMIM:619324"} ! hypertriglyceridemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18855 {source="OMIM:619324"} [Term] id: MONDO:0859150 @@ -552620,6 +550984,7 @@ xref: MEDGEN:1785671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619326 {source="MONDO:equivalentTo"} xref: UMLS:C5543403 {source="MONDO:equivalentTo", source="MEDGEN:1785671", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619326"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2303 {source="OMIM:619326"} [Term] id: MONDO:0859151 @@ -552638,6 +551003,7 @@ xref: MEDGEN:1781936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619333 {source="MONDO:equivalentTo"} xref: UMLS:C5543427 {source="MONDO:equivalentTo", source="MEDGEN:1781936", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619333"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20043 {source="OMIM:619333"} [Term] id: MONDO:0859154 @@ -552690,6 +551056,7 @@ xref: MEDGEN:1787902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619352 {source="MONDO:equivalentTo"} xref: UMLS:C5543478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787902"} is_a: MONDO:0003847 {source="OMIM:619352"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9218 {source="OMIM:619352"} [Term] id: MONDO:0859159 @@ -552698,6 +551065,7 @@ xref: MEDGEN:1781637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619354 {source="MONDO:equivalentTo"} xref: UMLS:C5543482 {source="MEDGEN:1781637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619354"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9549 {source="OMIM:619354"} [Term] id: MONDO:0859160 @@ -552710,6 +551078,7 @@ xref: MEDGEN:1786100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619355 {source="MONDO:equivalentTo"} xref: UMLS:C5543491 {source="MONDO:equivalentTo", source="MEDGEN:1786100", source="MONDO:MEDGEN"} is_a: MONDO:0033885 {source="OMIM:619355"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20213 {source="OMIM:619355"} [Term] id: MONDO:0859161 @@ -552718,6 +551087,7 @@ xref: MEDGEN:1788511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619356 {source="MONDO:equivalentTo"} xref: UMLS:C5543496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788511"} is_a: MONDO:0003847 {source="OMIM:619356"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8962 {source="OMIM:619356"} [Term] id: MONDO:0859162 @@ -552726,6 +551096,7 @@ xref: MEDGEN:1781627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619373 {source="MONDO:equivalentTo"} xref: UMLS:C5543538 {source="MEDGEN:1781627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619373"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17597 {source="OMIM:619373"} [Term] id: MONDO:0859163 @@ -552734,6 +551105,7 @@ xref: MEDGEN:1782083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619376 {source="MONDO:equivalentTo"} xref: UMLS:C5543554 {source="MEDGEN:1782083", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619376"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3300 {source="OMIM:619376"} [Term] id: MONDO:0859164 @@ -552742,6 +551114,7 @@ xref: MEDGEN:1785846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619377 {source="MONDO:equivalentTo"} xref: UMLS:C5543557 {source="MEDGEN:1785846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619377"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30594 {source="OMIM:619377"} [Term] id: MONDO:0859165 @@ -552750,6 +551123,7 @@ xref: MEDGEN:1780615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619383 {source="MONDO:equivalentTo"} xref: UMLS:C5543591 {source="MEDGEN:1780615", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619383"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30595 {source="OMIM:619383"} [Term] id: MONDO:0859166 @@ -552766,6 +551140,7 @@ xref: MEDGEN:1785163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619406 {source="MONDO:equivalentTo"} xref: UMLS:C5543621 {source="MEDGEN:1785163", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619406"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6262 {source="OMIM:619406"} [Term] id: MONDO:0859168 @@ -552784,6 +551159,7 @@ xref: MEDGEN:1785087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619426 {source="MONDO:equivalentTo"} xref: UMLS:C5543635 {source="MEDGEN:1785087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619426"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2717 {source="OMIM:619426"} [Term] id: MONDO:0859170 @@ -552801,6 +551177,7 @@ xref: MEDGEN:1794156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619460 {source="MONDO:equivalentTo"} xref: UMLS:C5561946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794156"} is_a: MONDO:0003847 {source="OMIM:619460"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10061 {source="OMIM:619460"} [Term] id: MONDO:0859172 @@ -552839,6 +551216,7 @@ xref: MEDGEN:1794163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619468 {source="MONDO:equivalentTo"} xref: UMLS:C5561953 {source="MONDO:equivalentTo", source="MEDGEN:1794163", source="MONDO:MEDGEN"} is_a: MONDO:0019005 {source="OMIM:619468"} ! nephronophthisis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19429 {source="OMIM:619468"} [Term] id: MONDO:0859176 @@ -552847,6 +551225,7 @@ xref: MEDGEN:1794164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619470 {source="MONDO:equivalentTo"} xref: UMLS:C5561954 {source="MEDGEN:1794164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619470"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25363 {source="OMIM:619470"} [Term] id: MONDO:0859177 @@ -552855,6 +551234,7 @@ xref: MEDGEN:1794165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619472 {source="MONDO:equivalentTo"} xref: UMLS:C5561955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794165"} is_a: MONDO:0003847 {source="OMIM:619472"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9853 {source="OMIM:619472"} [Term] id: MONDO:0859178 @@ -552863,6 +551243,7 @@ xref: MEDGEN:1794167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619475 {source="MONDO:equivalentTo"} xref: UMLS:C5561957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794167"} is_a: MONDO:0003847 {source="OMIM:619475"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11275 {source="OMIM:619475"} [Term] id: MONDO:0859179 @@ -552872,6 +551253,7 @@ xref: MEDGEN:1790413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619480 {source="MONDO:equivalentTo"} xref: UMLS:C5551361 {source="MEDGEN:1790413", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619480"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11465 {source="OMIM:619480"} [Term] id: MONDO:0859180 @@ -552880,6 +551262,7 @@ xref: MEDGEN:1794172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619481 {source="MONDO:equivalentTo"} xref: UMLS:C5561962 {source="MEDGEN:1794172", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619481"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29956 {source="OMIM:619481"} [Term] id: MONDO:0859181 @@ -552888,6 +551271,7 @@ xref: MEDGEN:1794177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619488 {source="MONDO:equivalentTo"} xref: UMLS:C5561967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794177"} is_a: MONDO:0003847 {source="OMIM:619488"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24750 {source="OMIM:619488"} [Term] id: MONDO:0859182 @@ -552896,6 +551280,7 @@ xref: MEDGEN:1794178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619489 {source="MONDO:equivalentTo"} xref: UMLS:C5561968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794178"} is_a: MONDO:0002081 {source="OMIM:619489"} ! musculoskeletal system disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14615 {source="OMIM:619489"} [Term] id: MONDO:0859183 @@ -552928,6 +551313,7 @@ xref: MEDGEN:1794185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619504 {source="MONDO:equivalentTo"} xref: UMLS:C5561975 {source="MONDO:equivalentTo", source="MEDGEN:1794185", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619504"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23575 {source="OMIM:619504"} [Term] id: MONDO:0859187 @@ -552952,6 +551338,7 @@ xref: MEDGEN:1794190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619518 {source="MONDO:equivalentTo"} xref: UMLS:C5561980 {source="MEDGEN:1794190", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619518"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4249 {source="OMIM:619518"} [Term] id: MONDO:0859190 @@ -552961,6 +551348,7 @@ xref: MEDGEN:1794194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619522 {source="MONDO:equivalentTo"} xref: UMLS:C5561984 {source="MEDGEN:1794194", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619522"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12989 {source="OMIM:619522"} [Term] id: MONDO:0859191 @@ -552999,6 +551387,7 @@ xref: MEDGEN:1794202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619543 {source="MONDO:equivalentTo"} xref: UMLS:C5561992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794202"} is_a: MONDO:0003847 {source="OMIM:619543"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7945 {source="OMIM:619543"} [Term] id: MONDO:0859196 @@ -553016,6 +551405,7 @@ xref: MEDGEN:1794207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619556 {source="MONDO:equivalentTo"} xref: UMLS:C5561997 {source="MEDGEN:1794207", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619556"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19998 {source="OMIM:619556"} [Term] id: MONDO:0859198 @@ -553024,6 +551414,7 @@ xref: MEDGEN:1794208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619557 {source="MONDO:equivalentTo"} xref: UMLS:C5561998 {source="MEDGEN:1794208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619557"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19904 {source="OMIM:619557"} [Term] id: MONDO:0859199 @@ -553032,6 +551423,7 @@ xref: MEDGEN:1794214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619575 {source="MONDO:equivalentTo"} xref: UMLS:C5562004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794214"} is_a: MONDO:0003847 {source="OMIM:619575"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29259 {source="OMIM:619575"} [Term] id: MONDO:0859200 @@ -553046,6 +551438,7 @@ xref: OMIM:619576 {source="MONDO:equivalentTo"} xref: Orphanet:641361 {source="MONDO:equivalentTo"} xref: UMLS:C5562005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794215"} is_a: MONDO:0003847 {source="OMIM:619576"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24662 {source="OMIM:619576"} [Term] id: MONDO:0859201 @@ -553114,6 +551507,7 @@ xref: MEDGEN:1794241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619639 {source="MONDO:equivalentTo"} xref: UMLS:C5562031 {source="MEDGEN:1794241", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619639"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12499 {source="OMIM:619639"} [Term] id: MONDO:0859208 @@ -553123,6 +551517,7 @@ xref: MEDGEN:1794242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619641 {source="MONDO:equivalentTo"} xref: UMLS:C5562032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794242"} is_a: MONDO:0003847 {source="OMIM:619641"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14347 {source="OMIM:619641"} [Term] id: MONDO:0859209 @@ -553132,6 +551527,7 @@ xref: MEDGEN:1794247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619648 {source="MONDO:equivalentTo"} xref: UMLS:C5562037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794247"} is_a: MONDO:0003847 {source="OMIM:619648"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30238 {source="OMIM:619648"} [Term] id: MONDO:0859210 @@ -553158,6 +551554,7 @@ xref: MEDGEN:1794250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619653 {source="MONDO:equivalentTo"} xref: UMLS:C5562040 {source="MEDGEN:1794250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619653"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11953 {source="OMIM:619653"} [Term] id: MONDO:0859213 @@ -553174,6 +551571,7 @@ xref: MEDGEN:1794260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619680 {source="MONDO:equivalentTo"} xref: UMLS:C5562050 {source="MEDGEN:1794260", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619680"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9390 {source="OMIM:619680"} [Term] id: MONDO:0859215 @@ -553183,6 +551581,7 @@ xref: MEDGEN:1794261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619681 {source="MONDO:equivalentTo"} xref: UMLS:C5562051 {source="MEDGEN:1794261", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619681"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/843 {source="OMIM:619681"} [Term] id: MONDO:0859216 @@ -553191,6 +551590,7 @@ xref: MEDGEN:1794262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619685 {source="MONDO:equivalentTo"} xref: UMLS:C5562052 {source="MONDO:equivalentTo", source="MEDGEN:1794262", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619685"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25956 {source="OMIM:619685"} [Term] id: MONDO:0859217 @@ -553199,6 +551599,7 @@ xref: MEDGEN:1794266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619690 {source="MONDO:equivalentTo"} xref: UMLS:C5562056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794266"} is_a: MONDO:0700092 {source="OMIM:619690"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9894 {source="OMIM:619690"} [Term] id: MONDO:0859218 @@ -553207,6 +551608,7 @@ xref: MEDGEN:1794270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619694 {source="MONDO:equivalentTo"} xref: UMLS:C5562060 {source="MEDGEN:1794270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619694"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25287 {source="OMIM:619694"} [Term] id: MONDO:0859219 @@ -553217,6 +551619,7 @@ xref: OMIM:619695 {source="MONDO:equivalentTo"} xref: Orphanet:659642 {source="MONDO:equivalentTo"} xref: UMLS:C5562061 {source="MEDGEN:1794271", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619695"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12766 {source="OMIM:619695"} [Term] id: MONDO:0859220 @@ -553225,6 +551628,7 @@ xref: MEDGEN:1794275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619699 {source="MONDO:equivalentTo"} xref: UMLS:C5562065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794275"} is_a: MONDO:0700092 {source="OMIM:619699"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17380 {source="OMIM:619699"} [Term] id: MONDO:0859221 @@ -553234,6 +551638,7 @@ xref: MEDGEN:1794276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619701 {source="MONDO:equivalentTo"} xref: UMLS:C5562066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794276"} is_a: MONDO:0700092 {source="OMIM:619701"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25590 {source="OMIM:619701"} [Term] id: MONDO:0859222 @@ -553244,6 +551649,7 @@ xref: MEDGEN:1803695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619702 {source="MONDO:equivalentTo"} xref: UMLS:C5676898 {source="MEDGEN:1803695", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018677 {source="OMIM:619702"} ! visceral heterotaxy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/53647 {source="OMIM:619702"} [Term] id: MONDO:0859223 @@ -553281,6 +551687,7 @@ xref: MEDGEN:1806238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619727 {source="MONDO:equivalentTo"} xref: UMLS:C5575335 {source="MEDGEN:1806238", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018230 {source="OMIM:619727"} ! skeletal dysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26186 {source="OMIM:619727"} [Term] id: MONDO:0859228 @@ -553292,6 +551699,7 @@ xref: MEDGEN:1806598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619743 {source="MONDO:equivalentTo"} xref: UMLS:C5676915 {source="MEDGEN:1806598", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0070428", source="OMIM:619743"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9200 {source="OMIM:619743"} [Term] id: MONDO:0859229 @@ -553316,6 +551724,7 @@ xref: MEDGEN:1802903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619769 {source="MONDO:equivalentTo"} xref: UMLS:C5676928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802903"} is_a: MONDO:0003847 {source="OMIM:619769"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18078 {source="OMIM:619769"} [Term] id: MONDO:0859232 @@ -553324,6 +551733,7 @@ xref: MEDGEN:1807420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619797 {source="MONDO:equivalentTo"} xref: UMLS:C5676944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1807420"} is_a: MONDO:0700092 {source="OMIM:619797"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14063 {source="OMIM:619797"} [Term] id: MONDO:0859233 @@ -553334,6 +551744,7 @@ xref: MEDGEN:1803348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619817 {source="MONDO:equivalentTo"} xref: UMLS:C5676957 {source="MONDO:equivalentTo", source="MEDGEN:1803348", source="MONDO:MEDGEN"} is_a: MONDO:0017612 {source="OMIM:619817"} ! junctional epidermolysis bullosa +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6142 {source="OMIM:619817"} [Term] id: MONDO:0859234 @@ -553364,6 +551775,7 @@ xref: MEDGEN:1803456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619833 {source="MONDO:equivalentTo"} xref: UMLS:C5676965 {source="MEDGEN:1803456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619833"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7994 {source="OMIM:619833"} [Term] id: MONDO:0859237 @@ -553395,6 +551807,7 @@ xref: MEDGEN:1803276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619841 {source="MONDO:equivalentTo"} xref: UMLS:C5677022 {source="MEDGEN:1803276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619841"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1738 {source="OMIM:619841"} [Term] id: MONDO:0859240 @@ -553403,6 +551816,7 @@ xref: MEDGEN:1807523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619844 {source="MONDO:equivalentTo"} xref: UMLS:C5676969 {source="MEDGEN:1807523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619844"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8049 {source="OMIM:619844"} [Term] id: MONDO:0859241 @@ -553411,6 +551825,7 @@ xref: MEDGEN:1801540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619847 {source="MONDO:equivalentTo"} xref: UMLS:C5676972 {source="MEDGEN:1801540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005559 {source="OMIM:619847"} ! neurodegenerative disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3061 {source="OMIM:619847"} [Term] id: MONDO:0859242 @@ -553430,6 +551845,7 @@ xref: MEDGEN:1812577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619854 {source="MONDO:equivalentTo"} xref: UMLS:C5676975 {source="MONDO:equivalentTo", source="MEDGEN:1812577", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619854"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4384 {source="OMIM:619854"} [Term] id: MONDO:0859244 @@ -553438,6 +551854,7 @@ xref: MEDGEN:713858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619859 {source="MONDO:equivalentTo"} xref: UMLS:C1291561 {source="MEDGEN:713858", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:619859"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8587 {source="OMIM:619859"} [Term] id: MONDO:0859245 @@ -553459,6 +551876,7 @@ xref: MEDGEN:1804145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619864 {source="MONDO:equivalentTo"} xref: UMLS:C5676979 {source="MEDGEN:1804145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019046 {source="OMIM:619864"} ! leukodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3607 {source="OMIM:619864"} [Term] id: MONDO:0859247 @@ -553467,6 +551885,7 @@ xref: MEDGEN:1804193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619869 {source="MONDO:equivalentTo"} xref: UMLS:C5677020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804193"} is_a: MONDO:0003847 {source="OMIM:619869"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6889 {source="OMIM:619869"} [Term] id: MONDO:0859248 @@ -553485,6 +551904,7 @@ xref: MEDGEN:1808333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619873 {source="MONDO:equivalentTo"} xref: UMLS:C5676984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808333"} is_a: MONDO:0700092 {source="OMIM:619873"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16816 {source="OMIM:619873"} [Term] id: MONDO:0859250 @@ -553493,6 +551913,7 @@ xref: MEDGEN:1810140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619876 {source="MONDO:equivalentTo"} xref: UMLS:C5676986 {source="MEDGEN:1810140", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619876"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2326 {source="OMIM:619876"} [Term] id: MONDO:0859251 @@ -553501,6 +551922,7 @@ xref: MEDGEN:1810366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619877 {source="MONDO:equivalentTo"} xref: UMLS:C5676987 {source="MONDO:equivalentTo", source="MEDGEN:1810366", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619877"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29415 {source="OMIM:619877"} [Term] id: MONDO:0859252 @@ -553509,6 +551931,7 @@ xref: MEDGEN:1804653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619880 {source="MONDO:equivalentTo"} xref: UMLS:C5676990 {source="MEDGEN:1804653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:619880"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8717 {source="OMIM:619880"} [Term] id: MONDO:0859253 @@ -553525,6 +551948,7 @@ xref: MEDGEN:1808950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619902 {source="MONDO:equivalentTo"} xref: UMLS:C5676996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808950"} is_a: MONDO:0003847 {source="OMIM:619902"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12425 {source="OMIM:619902"} [Term] id: MONDO:0859255 @@ -553544,6 +551968,7 @@ xref: MEDGEN:1805816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619908 {source="MONDO:equivalentTo"} xref: UMLS:C5676998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805816"} is_a: MONDO:0700092 {source="OMIM:619908"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11805 {source="OMIM:619908"} [Term] id: MONDO:0859257 @@ -553557,6 +551982,7 @@ xref: Orphanet:660017 {source="MONDO:equivalentTo"} xref: UMLS:C5677001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805453"} is_a: MONDO:0003847 {source="OMIM:619911"} ! hereditary disease is_a: MONDO:0971063 {source="Orphanet:660017", source="https://orcid.org/0000-0002-4142-7153"} ! autosomal dominant dopa-responsive dystonia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7981 {source="OMIM:619911"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8071" xsd:string [Term] @@ -553574,6 +552000,7 @@ xref: MEDGEN:1800957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619955 {source="MONDO:equivalentTo"} xref: UMLS:C5677017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800957"} is_a: MONDO:0700092 {source="OMIM:619955"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9099 {source="OMIM:619955"} [Term] id: MONDO:0859261 @@ -553591,6 +552018,7 @@ xref: MEDGEN:1804308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619959 {source="MONDO:equivalentTo"} xref: UMLS:C5677019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804308"} is_a: MONDO:0003847 {source="OMIM:619959"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30661 {source="OMIM:619959"} [Term] id: MONDO:0859263 @@ -553599,6 +552027,7 @@ xref: MEDGEN:1811329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619964 {source="MONDO:equivalentTo"} xref: UMLS:C5575272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1811329"} is_a: MONDO:0003847 {source="OMIM:619964"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15772 {source="OMIM:619964"} [Term] id: MONDO:0859264 @@ -553609,6 +552038,7 @@ xref: MEDGEN:462881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619967 {source="MONDO:equivalentTo"} xref: UMLS:C3151531 {source="MONDO:equivalentTo", source="MEDGEN:462881", source="MONDO:MEDGEN"} is_a: MONDO:0019952 {source="OMIM:619967"} ! congenital myopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9639 {source="OMIM:619967"} [Term] id: MONDO:0859265 @@ -553625,6 +552055,7 @@ xref: MEDGEN:1823958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619972 {source="MONDO:equivalentTo"} xref: UMLS:C5774185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823958"} is_a: MONDO:0700092 {source="OMIM:619972"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17300 {source="OMIM:619972"} [Term] id: MONDO:0859267 @@ -553643,6 +552074,7 @@ xref: MEDGEN:1823964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619985 {source="MONDO:equivalentTo"} xref: UMLS:C5774191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823964"} is_a: MONDO:0024321 {source="OMIM:619985"} ! disorder of GPI anchor biosynthesis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/31690 {source="OMIM:619985"} [Term] id: MONDO:0859272 @@ -553651,6 +552083,7 @@ xref: MEDGEN:1823967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619989 {source="MONDO:equivalentTo"} xref: UMLS:C5774194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823967"} is_a: MONDO:0700092 {source="OMIM:619989"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23807 {source="OMIM:619989"} [Term] id: MONDO:0859273 @@ -553659,6 +552092,7 @@ xref: MEDGEN:1823968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619991 {source="MONDO:equivalentTo"} xref: UMLS:C5774195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823968"} is_a: MONDO:0005154 {source="OMIM:619991"} ! liver disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23377 {source="OMIM:619991"} [Term] id: MONDO:0859274 @@ -553675,6 +552109,7 @@ xref: MEDGEN:1823970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620001 {source="MONDO:equivalentTo"} xref: UMLS:C5774197 {source="MEDGEN:1823970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:620001"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25305 {source="OMIM:620001"} [Term] id: MONDO:0859276 @@ -553683,6 +552118,7 @@ xref: MEDGEN:1823971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620005 {source="MONDO:equivalentTo"} xref: UMLS:C5774198 {source="MEDGEN:1823971", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620005"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9369 {source="OMIM:620005"} [Term] id: MONDO:0859277 @@ -553691,6 +552127,7 @@ xref: MEDGEN:1823972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620007 {source="MONDO:equivalentTo"} xref: UMLS:C5774199 {source="MEDGEN:1823972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620007"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18711 {source="OMIM:620007"} [Term] id: MONDO:0859278 @@ -553720,6 +552157,7 @@ xref: MEDGEN:1823975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620012 {source="MONDO:equivalentTo"} xref: UMLS:C5774202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823975"} is_a: MONDO:0003847 {source="OMIM:620012"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16712 {source="OMIM:620012"} [Term] id: MONDO:0859281 @@ -553728,6 +552166,7 @@ xref: MEDGEN:1823979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620021 {source="MONDO:equivalentTo"} xref: UMLS:C5774206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823979"} is_a: MONDO:0003847 {source="OMIM:620021"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26974 {source="OMIM:620021"} [Term] id: MONDO:0859282 @@ -553736,6 +552175,7 @@ xref: MEDGEN:1823981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620023 {source="MONDO:equivalentTo"} xref: UMLS:C5774208 {source="MEDGEN:1823981", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:620023"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1937 {source="OMIM:620023"} [Term] id: MONDO:0859283 @@ -553744,6 +552184,7 @@ xref: MEDGEN:1823982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620024 {source="MONDO:equivalentTo"} xref: UMLS:C5774209 {source="MEDGEN:1823982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:620024"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9249 {source="OMIM:620024"} [Term] id: MONDO:0859285 @@ -553752,6 +552193,7 @@ xref: MEDGEN:1823984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620027 {source="MONDO:equivalentTo"} xref: UMLS:C5774211 {source="MONDO:equivalentTo", source="MEDGEN:1823984", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:620027"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11868 {source="OMIM:620027"} [Term] id: MONDO:0859286 @@ -553769,6 +552211,7 @@ xref: MEDGEN:1823989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620038 {source="MONDO:equivalentTo"} xref: UMLS:C5774216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823989"} is_a: MONDO:0700092 {source="OMIM:620038"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9537 {source="OMIM:620038"} [Term] id: MONDO:0859288 @@ -553777,6 +552220,7 @@ xref: MEDGEN:1823991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620044 {source="MONDO:equivalentTo"} xref: UMLS:C5774218 {source="MEDGEN:1823991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620044"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3078 {source="OMIM:620044"} [Term] id: MONDO:0859289 @@ -553803,6 +552247,7 @@ xref: MEDGEN:1823997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620065 {source="MONDO:equivalentTo"} xref: UMLS:C5774224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823997"} is_a: MONDO:0003847 {source="OMIM:620065"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20973 {source="OMIM:620065"} [Term] id: MONDO:0859293 @@ -553811,6 +552256,7 @@ xref: MEDGEN:1823998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620066 {source="MONDO:equivalentTo"} xref: UMLS:C5774225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823998"} is_a: MONDO:0700092 {source="OMIM:620066"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28662 {source="OMIM:620066"} [Term] id: MONDO:0859295 @@ -553820,6 +552266,7 @@ xref: MEDGEN:1824001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620070 {source="MONDO:equivalentTo"} xref: UMLS:C5774228 {source="MEDGEN:1824001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:620070"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24270 {source="OMIM:620070"} [Term] id: MONDO:0859296 @@ -553829,6 +552276,7 @@ xref: MEDGEN:1824002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620071 {source="MONDO:equivalentTo"} xref: UMLS:C5774229 {source="MEDGEN:1824002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:620071"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9547 {source="OMIM:620071"} [Term] id: MONDO:0859297 @@ -553837,6 +552285,7 @@ xref: MEDGEN:1824004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620073 {source="MONDO:equivalentTo"} xref: UMLS:C5774231 {source="MEDGEN:1824004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:620073"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5047 {source="OMIM:620073"} [Term] id: MONDO:0859298 @@ -553845,6 +552294,7 @@ xref: MEDGEN:1824005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620075 {source="MONDO:equivalentTo"} xref: UMLS:C5774232 {source="MEDGEN:1824005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:620075"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30414 {source="OMIM:620075"} [Term] id: MONDO:0859300 @@ -553869,6 +552319,7 @@ xref: OMIM:620083 {source="MONDO:equivalentTo"} xref: Orphanet:662207 {source="MONDO:equivalentTo"} xref: UMLS:C5774235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824008"} is_a: MONDO:0700092 {source="OMIM:620083"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5041 {source="OMIM:620083"} [Term] id: MONDO:0859302 @@ -553877,6 +552328,7 @@ xref: MEDGEN:1824010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620085 {source="MONDO:equivalentTo"} xref: UMLS:C5774237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824010"} is_a: MONDO:0003847 {source="OMIM:620085"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/830 {source="OMIM:620085"} [Term] id: MONDO:0859303 @@ -553886,6 +552338,7 @@ xref: MEDGEN:1824011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620086 {source="MONDO:equivalentTo"} xref: UMLS:C5774238 {source="MEDGEN:1824011", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620086"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25094 {source="OMIM:620086"} [Term] id: MONDO:0859304 @@ -553894,6 +552347,7 @@ xref: MEDGEN:1824013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620089 {source="MONDO:equivalentTo"} xref: UMLS:C5774240 {source="MEDGEN:1824013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005559 {source="OMIM:620089"} ! neurodegenerative disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6556 {source="OMIM:620089"} [Term] id: MONDO:0859305 @@ -553903,6 +552357,7 @@ xref: MEDGEN:1824014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620094 {source="MONDO:equivalentTo"} xref: UMLS:C5774241 {source="MEDGEN:1824014", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:620094"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28214 {source="OMIM:620094"} [Term] id: MONDO:0859306 @@ -553911,6 +552366,7 @@ xref: MEDGEN:1824015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620098 {source="MONDO:equivalentTo"} xref: UMLS:C5774242 {source="MEDGEN:1824015", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620098"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6196 {source="OMIM:620098"} [Term] id: MONDO:0859307 @@ -553919,6 +552375,7 @@ xref: MEDGEN:1824016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620099 {source="MONDO:equivalentTo"} xref: UMLS:C5774243 {source="MEDGEN:1824016", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005516 {source="OMIM:620099"} ! osteochondrodysplasia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1539 {source="OMIM:620099"} [Term] id: MONDO:0859308 @@ -553941,6 +552398,7 @@ xref: MEDGEN:1824020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620106 {source="MONDO:equivalentTo"} xref: UMLS:C5774247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824020"} is_a: MONDO:0019064 {source="DOID:0070457", source="OMIM:620106"} ! hereditary spastic paraplegia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6396 {source="OMIM:620106"} [Term] id: MONDO:0859310 @@ -553953,6 +552411,7 @@ xref: OMIM:620107 {source="MONDO:equivalentTo"} xref: UMLS:C5774248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824021"} is_a: MONDO:0003847 {source="OMIM:620107"} ! hereditary disease is_a: MONDO:0015375 {source="DOID:0060960", source="OMIM:620107", source="https://orcid.org/0000-0002-4142-7153"} ! orofaciodigital syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23136 {source="OMIM:620107"} [Term] id: MONDO:0859311 @@ -553971,6 +552430,7 @@ xref: MEDGEN:1824024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620113 {source="MONDO:equivalentTo"} xref: UMLS:C5774251 {source="MEDGEN:1824024", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:620113"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1162 {source="OMIM:620113"} [Term] id: MONDO:0859313 @@ -553979,6 +552439,7 @@ xref: MEDGEN:1824025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620114 {source="MONDO:equivalentTo"} xref: UMLS:C5774252 {source="MEDGEN:1824025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:620114"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1396 {source="OMIM:620114"} [Term] id: MONDO:0859314 @@ -553990,6 +552451,7 @@ xref: MEDGEN:1824026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620115 {source="MONDO:equivalentTo"} xref: UMLS:C5774253 {source="MEDGEN:1824026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100062 {source="DOID:0070394", source="OMIM:620115"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19036 {source="OMIM:620115"} [Term] id: MONDO:0859316 @@ -553998,6 +552460,7 @@ xref: MEDGEN:1814970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620121 {source="MONDO:equivalentTo"} xref: UMLS:C5703292 {source="MEDGEN:1814970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:620121"} ! inherited disease susceptibility +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1073 {source="OMIM:620121"} [Term] id: MONDO:0859317 @@ -554032,6 +552495,7 @@ xref: MEDGEN:1824030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620133 {source="MONDO:equivalentTo"} xref: UMLS:C5774257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824030"} is_a: MONDO:0015780 {source="OMIM:620133"} ! dyskeratosis congenita +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17641 {source="OMIM:620133"} [Term] id: MONDO:0859320 @@ -554042,6 +552506,7 @@ xref: MEDGEN:1824031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620135 {source="MONDO:equivalentTo"} xref: UMLS:C5774258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824031"} is_a: MONDO:0100223 {source="OMIM:620135"} ! mitochondrial complex I deficiency, nuclear type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7702 {source="OMIM:620135"} [Term] id: MONDO:0859321 @@ -554052,6 +552517,7 @@ xref: MEDGEN:1824032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620137 {source="MONDO:equivalentTo"} xref: UMLS:C5774259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824032"} is_a: MONDO:0020811 {source="OMIM:620137"} ! mitochondrial complex III deficiency, nuclear type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12590 {source="OMIM:620137"} [Term] id: MONDO:0859322 @@ -554060,6 +552526,7 @@ xref: MEDGEN:1824033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620138 {source="MONDO:equivalentTo"} xref: UMLS:C5774260 {source="MEDGEN:1824033", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620138"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21355 {source="OMIM:620138"} [Term] id: MONDO:0859323 @@ -554071,6 +552538,7 @@ xref: MEDGEN:1824034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620139 {source="MONDO:equivalentTo"} xref: UMLS:C5774261 {source="MEDGEN:1824034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0070429", source="OMIM:620139"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25187 {source="OMIM:620139"} [Term] id: MONDO:0859324 @@ -554079,6 +552547,7 @@ xref: MEDGEN:1824035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620141 {source="MONDO:equivalentTo"} xref: UMLS:C5774262 {source="MEDGEN:1824035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620141"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/707 {source="OMIM:620141"} [Term] id: MONDO:0859325 @@ -554090,6 +552559,7 @@ xref: MEDGEN:1824036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620145 {source="MONDO:equivalentTo"} xref: UMLS:C5774263 {source="MEDGEN:1824036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100062 {source="DOID:0070378", source="OMIM:620145"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24824 {source="OMIM:620145"} [Term] id: MONDO:0859327 @@ -554101,6 +552571,7 @@ xref: MEDGEN:1824038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620149 {source="MONDO:equivalentTo"} xref: UMLS:C5774265 {source="MEDGEN:1824038", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100062 {source="DOID:0070395", source="OMIM:620149"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1399 {source="OMIM:620149"} [Term] id: MONDO:0859328 @@ -554111,6 +552582,7 @@ xref: MEDGEN:1824039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620152 {source="MONDO:equivalentTo"} xref: UMLS:C5774266 {source="MONDO:equivalentTo", source="MEDGEN:1824039", source="MONDO:MEDGEN"} is_a: MONDO:0018100 {source="OMIM:620152"} ! familial primary hypomagnesemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19903 {source="OMIM:620152"} [Term] id: MONDO:0859329 @@ -554121,6 +552593,7 @@ xref: MEDGEN:1824040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620153 {source="MONDO:equivalentTo"} xref: UMLS:C5774267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824040"} is_a: MONDO:0000141 {source="OMIM:620153"} ! mosaic variegated aneuploidy syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30460 {source="OMIM:620153"} [Term] id: MONDO:0859330 @@ -554129,6 +552602,7 @@ xref: MEDGEN:1824041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620154 {source="MONDO:equivalentTo"} xref: UMLS:C5774268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824041"} is_a: MONDO:0014769 {source="OMIM:620154"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1108 {source="OMIM:620154"} [Term] id: MONDO:0859331 @@ -554145,6 +552619,7 @@ xref: MEDGEN:1824043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620156 {source="MONDO:equivalentTo"} xref: UMLS:C5774270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824043"} is_a: MONDO:0000904 {source="OMIM:620156"} ! complex cortical dysplasia with other brain malformations +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20226 {source="OMIM:620156"} [Term] id: MONDO:0859333 @@ -554165,6 +552640,7 @@ xref: MEDGEN:1824045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620158 {source="MONDO:equivalentTo"} xref: UMLS:C5774272 {source="MEDGEN:1824045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020380 {source="OMIM:620158"} ! autosomal dominant cerebellar ataxia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7952 {source="OMIM:620158"} [Term] id: MONDO:0859335 @@ -554176,6 +552652,7 @@ xref: MEDGEN:1824046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620161 {source="MONDO:equivalentTo"} xref: UMLS:C5774273 {source="MEDGEN:1824046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019952 {source="DOID:0081347", source="OMIM:620161"} ! congenital myopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11944 {source="OMIM:620161"} [Term] id: MONDO:0859336 @@ -554195,6 +552672,7 @@ xref: MEDGEN:1824048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620167 {source="MONDO:equivalentTo"} xref: UMLS:C5774275 {source="MEDGEN:1824048", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="DOID:0070430", source="OMIM:620167"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16148 {source="OMIM:620167"} [Term] id: MONDO:0859338 @@ -554203,6 +552681,7 @@ xref: MEDGEN:1824049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620170 {source="MONDO:equivalentTo"} xref: UMLS:C5774276 {source="MEDGEN:1824049", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="OMIM:620170"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29350 {source="OMIM:620170"} [Term] id: MONDO:0859339 @@ -554232,6 +552711,7 @@ xref: MEDGEN:1824052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620177 {source="MONDO:equivalentTo"} xref: UMLS:C5774279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824052"} is_a: MONDO:0003037 {source="DOID:0060968", source="OMIM:620177"} ! hypotrichosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26255 {source="OMIM:620177"} [Term] id: MONDO:0859342 @@ -554272,6 +552752,7 @@ xref: MEDGEN:1824058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620191 {source="MONDO:equivalentTo"} xref: UMLS:C5774285 {source="MEDGEN:1824058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:620191"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20898 {source="OMIM:620191"} [Term] id: MONDO:0859350 @@ -554280,6 +552761,7 @@ xref: MEDGEN:1824061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620194 {source="MONDO:equivalentTo"} xref: UMLS:C5774288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824061"} is_a: MONDO:0700092 {source="OMIM:620194"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25821 {source="OMIM:620194"} [Term] id: MONDO:0859351 @@ -554296,6 +552778,7 @@ xref: MEDGEN:1824063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620196 {source="MONDO:equivalentTo"} xref: UMLS:C5774290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824063"} is_a: MONDO:0004983 {source="OMIM:620196"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18867 {source="OMIM:620196"} [Term] id: MONDO:0859353 @@ -554306,6 +552789,7 @@ xref: MEDGEN:1824064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620197 {source="MONDO:equivalentTo"} xref: UMLS:C5774291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824064"} is_a: MONDO:0016575 {source="OMIM:620197"} ! primary ciliary dyskinesia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29368 {source="OMIM:620197"} [Term] id: MONDO:0859354 @@ -554314,6 +552798,7 @@ xref: MEDGEN:1824065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620198 {source="MONDO:equivalentTo"} xref: UMLS:C5774292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824065"} is_a: MONDO:0031432 {source="OMIM:620198"} ! thyroid hormone metabolism, abnormal +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12348 {source="OMIM:620198"} [Term] id: MONDO:0859355 @@ -554325,6 +552810,7 @@ xref: MEDGEN:1824066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620199 {source="MONDO:equivalentTo"} xref: UMLS:C5774293 {source="MEDGEN:1824066", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016382 {source="OMIM:620199"} ! hereditary poikiloderma +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21173 {source="OMIM:620199"} [Term] id: MONDO:0859356 @@ -554335,6 +552821,7 @@ xref: MEDGEN:1824067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620200 {source="MONDO:equivalentTo"} xref: UMLS:C5774294 {source="MEDGEN:1824067", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005501 {source="OMIM:620200"} ! congenital disorder of glycosylation type II +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21690 {source="OMIM:620200"} [Term] id: MONDO:0859357 @@ -554345,6 +552832,7 @@ xref: MEDGEN:1824068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620201 {source="MONDO:equivalentTo"} xref: UMLS:C5774295 {source="MEDGEN:1824068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005501 {source="OMIM:620201"} ! congenital disorder of glycosylation type II +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1471 {source="OMIM:620201"} [Term] id: MONDO:0859358 @@ -554355,6 +552843,7 @@ xref: MEDGEN:1824069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620203 {source="MONDO:equivalentTo"} xref: UMLS:C5774296 {source="MEDGEN:1824069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016333 {source="OMIM:620203"} ! familial dilated cardiomyopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/752 {source="OMIM:620203"} [Term] id: MONDO:0859360 @@ -554374,6 +552863,7 @@ xref: MEDGEN:1824071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620210 {source="MONDO:equivalentTo"} xref: UMLS:C5774298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824071"} is_a: MONDO:0700092 {source="OMIM:620210"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/621 {source="OMIM:620210"} [Term] id: MONDO:0859362 @@ -554385,6 +552875,7 @@ xref: MEDGEN:1824072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620211 {source="MONDO:equivalentTo"} xref: UMLS:C5774299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824072"} is_a: MONDO:0005803 {source="DOID:0081328", source="OMIM:620211"} ! hyperinsulinemic hypoglycemia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25554 {source="OMIM:620211"} [Term] id: MONDO:0859363 @@ -554425,6 +552916,7 @@ xref: MEDGEN:1824075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620227 {source="MONDO:equivalentTo"} xref: UMLS:C5774302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824075"} is_a: MONDO:0019587 {source="OMIM:620227"} ! autosomal dominant nonsyndromic hearing loss +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18533 {source="OMIM:620227"} [Term] id: MONDO:0859367 @@ -554446,6 +552938,7 @@ xref: MEDGEN:1824077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620231 {source="MONDO:equivalentTo"} xref: UMLS:C5774304 {source="MEDGEN:1824077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000453 {source="OMIM:620231"} ! short QT syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11029 {source="OMIM:620231"} [Term] id: MONDO:0859369 @@ -554454,6 +552947,7 @@ xref: MEDGEN:1824078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620232 {source="MONDO:equivalentTo"} xref: UMLS:C5774305 {source="MEDGEN:1824078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620232"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7776 {source="OMIM:620232"} [Term] id: MONDO:0859370 @@ -554462,6 +552956,7 @@ xref: MEDGEN:1824079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620233 {source="MONDO:equivalentTo"} xref: UMLS:C5774306 {source="MEDGEN:1824079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620233"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/328 {source="OMIM:620233"} [Term] id: MONDO:0859371 @@ -554470,6 +552965,7 @@ xref: MEDGEN:1824080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620235 {source="MONDO:equivalentTo"} xref: UMLS:C5774307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824080"} is_a: MONDO:0020573 {source="OMIM:620235"} ! inherited disease susceptibility +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15719 {source="OMIM:620235"} [Term] id: MONDO:0859372 @@ -554502,6 +552998,7 @@ xref: OMIM:620238 {source="MONDO:equivalentTo"} xref: UMLS:C5774309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824082"} is_a: MONDO:0019588 {source="OMIM:620238"} ! hearing loss, autosomal recessive relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33914 {source="OMIM:620238"} [Term] id: MONDO:0859375 @@ -554510,6 +553007,7 @@ xref: MEDGEN:1840906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620240 {source="MONDO:equivalentTo"} xref: UMLS:C5830270 {source="MEDGEN:1840906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620240"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4425 {source="OMIM:620240"} [Term] id: MONDO:0859376 @@ -554519,6 +553017,7 @@ xref: OMIM:620241 {source="MONDO:equivalentTo"} xref: UMLS:C5830272 {source="MEDGEN:1840908", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:620241"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0016349 {source="OMIM:620241", source="https://orcid.org/0000-0001-5208-3432"} ! congenital hydrocephalus +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11104 {source="OMIM:620241"} [Term] id: MONDO:0859377 @@ -554528,6 +553027,7 @@ xref: MEDGEN:1840909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620242 {source="MONDO:equivalentTo"} xref: UMLS:C5830273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840909"} is_a: MONDO:0700092 {source="OMIM:620242"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13540 {source="OMIM:620242"} [Term] id: MONDO:0859378 @@ -554539,6 +553039,7 @@ xref: MEDGEN:1840911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620243 {source="MONDO:equivalentTo"} xref: UMLS:C5830275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840911"} is_a: MONDO:0019046 {source="DOID:0070401", source="OMIM:620243"} ! leukodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25380 {source="OMIM:620243"} [Term] id: MONDO:0859379 @@ -554561,6 +553062,7 @@ xref: OMIM:620245 {source="MONDO:equivalentTo"} xref: UMLS:C5830280 {source="MEDGEN:1840916", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0044202 {source="OMIM:620245"} ! episodic kinesigenic dyskinesia is_a: MONDO:0044807 {source="OMIM:620245"} ! inherited dystonia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/28497 {source="OMIM:620245"} [Term] id: MONDO:0859381 @@ -554571,6 +553073,7 @@ xref: MEDGEN:1840927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620247 {source="MONDO:equivalentTo"} xref: UMLS:C5830291 {source="MEDGEN:1840927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016333 {source="OMIM:620247"} ! familial dilated cardiomyopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12949 {source="OMIM:620247"} [Term] id: MONDO:0859382 @@ -554615,6 +553118,7 @@ xref: MEDGEN:1840194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301099 {source="MONDO:equivalentTo"} xref: UMLS:C5829558 {source="MEDGEN:1840194", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="OMIM:301099"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11335 {source="OMIM:301099"} [Term] id: MONDO:0859478 @@ -554623,6 +553127,7 @@ xref: MEDGEN:1840198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301101 {source="MONDO:equivalentTo"} xref: UMLS:C5829562 {source="MONDO:equivalentTo", source="MEDGEN:1840198", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="OMIM:301101"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13485 {source="OMIM:301101"} [Term] id: MONDO:0859514 @@ -554653,6 +553158,7 @@ xref: MEDGEN:1840932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620250 {source="MONDO:equivalentTo"} xref: UMLS:C5830296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840932"} is_a: MONDO:0700092 {source="OMIM:620250"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26611 {source="OMIM:620250"} [Term] id: MONDO:0859517 @@ -554675,6 +553181,7 @@ xref: MEDGEN:1840948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620269 {source="MONDO:equivalentTo"} xref: UMLS:C5830312 {source="MEDGEN:1840948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019046 {source="DOID:0070403", source="OMIM:620269"} ! leukodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16872 {source="OMIM:620269"} [Term] id: MONDO:0859519 @@ -554683,6 +553190,7 @@ xref: MEDGEN:1840955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620270 {source="MONDO:equivalentTo"} xref: UMLS:C5830319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840955"} is_a: MONDO:0700092 {source="OMIM:620270"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16803 {source="OMIM:620270"} [Term] id: MONDO:0859520 @@ -554694,6 +553202,7 @@ xref: MEDGEN:1840958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620275 {source="MONDO:equivalentTo"} xref: UMLS:C5830322 {source="MEDGEN:1840958", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0033885 {source="OMIM:620275"} ! mitochondrial complex IV deficiency, nuclear-type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2261 {source="OMIM:620275"} [Term] id: MONDO:0859521 @@ -554702,6 +553211,7 @@ xref: MEDGEN:1840962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620276 {source="MONDO:equivalentTo"} xref: UMLS:C5830326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840962"} is_a: MONDO:0014769 {source="OMIM:620276"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1723 {source="OMIM:620276"} [Term] id: MONDO:0859522 @@ -554710,6 +553220,7 @@ xref: MEDGEN:1840965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620277 {source="MONDO:equivalentTo"} xref: UMLS:C5830329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840965"} is_a: MONDO:0004983 {source="OMIM:620277"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14293 {source="OMIM:620277"} [Term] id: MONDO:0859523 @@ -554731,6 +553242,7 @@ xref: MEDGEN:1840976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620280 {source="MONDO:equivalentTo"} xref: UMLS:C5830340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840976"} is_a: MONDO:0019587 {source="OMIM:620280"} ! autosomal dominant nonsyndromic hearing loss +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19070 {source="OMIM:620280"} [Term] id: MONDO:0859525 @@ -554741,6 +553253,7 @@ xref: MEDGEN:1840978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620281 {source="MONDO:equivalentTo"} xref: UMLS:C5830342 {source="MEDGEN:1840978", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019587 {source="OMIM:620281"} ! autosomal dominant nonsyndromic hearing loss +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8984 {source="OMIM:620281"} [Term] id: MONDO:0859526 @@ -554749,6 +553262,7 @@ xref: MEDGEN:1840982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620282 {source="MONDO:equivalentTo"} xref: UMLS:C5830346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840982"} is_a: MONDO:0021094 {source="OMIM:620282"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11924 {source="OMIM:620282"} [Term] id: MONDO:0859527 @@ -554759,6 +553273,7 @@ xref: MEDGEN:1840991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620283 {source="MONDO:equivalentTo"} xref: UMLS:C5830355 {source="MEDGEN:1840991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019587 {source="OMIM:620283"} ! autosomal dominant nonsyndromic hearing loss +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19987 {source="OMIM:620283"} [Term] id: MONDO:0859528 @@ -554769,6 +553284,7 @@ xref: MEDGEN:1840993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620284 {source="MONDO:equivalentTo"} xref: UMLS:C5830357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840993"} is_a: MONDO:0019587 {source="OMIM:620284"} ! autosomal dominant nonsyndromic hearing loss +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/797 {source="OMIM:620284"} [Term] id: MONDO:0859529 @@ -554790,6 +553306,7 @@ xref: MEDGEN:1840998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620286 {source="MONDO:equivalentTo"} xref: UMLS:C5830362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840998"} is_a: MONDO:0005336 {source="OMIM:620286"} ! myopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6915 {source="OMIM:620286"} [Term] id: MONDO:0859531 @@ -554798,6 +553315,7 @@ xref: MEDGEN:1841001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620292 {source="MONDO:equivalentTo"} xref: UMLS:C5830365 {source="MONDO:equivalentTo", source="MEDGEN:1841001", source="MONDO:MEDGEN"} is_a: MONDO:0700092 {source="OMIM:620292"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3262 {source="OMIM:620292"} [Term] id: MONDO:0859532 @@ -554806,6 +553324,7 @@ xref: MEDGEN:1841003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620294 {source="MONDO:equivalentTo"} xref: UMLS:C5830367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841003"} is_a: MONDO:0000119 {source="OMIM:620294"} ! congenital heart defects, multiple types +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9107 {source="OMIM:620294"} [Term] id: MONDO:0859564 @@ -554816,6 +553335,7 @@ xref: MEDGEN:1823952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301091 {source="MONDO:equivalentTo"} xref: UMLS:C5774178 {source="MEDGEN:1823952", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0859390 {source="OMIM:301091"} ! epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4077 {source="OMIM:301091"} [Term] id: MONDO:0859565 @@ -554835,6 +553355,7 @@ xref: MEDGEN:1803802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616994 {source="MONDO:equivalentTo"} xref: UMLS:C5676895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803802"} is_a: MONDO:0031329 {source="DOID:0081125", source="OMIM:616994"} ! craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15870 {source="OMIM:616994"} [Term] id: MONDO:0859568 @@ -554846,6 +553367,7 @@ xref: MEDGEN:1823960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619977 {source="MONDO:equivalentTo"} xref: UMLS:C5774187 {source="MEDGEN:1823960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0031166 {source="DOID:0070441", source="OMIM:619977"} ! macular dystrophy, retinal +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11891 {source="OMIM:619977"} [Term] id: MONDO:0859569 @@ -554862,6 +553384,7 @@ xref: MEDGEN:1823962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619981 {source="MONDO:equivalentTo"} xref: UMLS:C5774189 {source="MONDO:equivalentTo", source="MEDGEN:1823962", source="MONDO:MEDGEN"} is_a: MONDO:0031646 {source="OMIM:619981"} ! Braddock-Carey syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17273 {source="OMIM:619981"} [Term] id: MONDO:0859571 @@ -554872,6 +553395,7 @@ xref: MEDGEN:1823983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620025 {source="MONDO:equivalentTo"} xref: UMLS:C5774210 {source="MEDGEN:1823983", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005711 {source="OMIM:620025"} ! congenital diaphragmatic hernia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15472 {source="OMIM:620025"} [Term] id: MONDO:0859572 @@ -554880,6 +553404,7 @@ xref: MEDGEN:1823999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620067 {source="MONDO:equivalentTo"} xref: UMLS:C5774226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823999"} is_a: MONDO:0031323 {source="OMIM:620067"} ! cardiac valvular defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17111 {source="OMIM:620067"} [Term] id: MONDO:0859573 @@ -554912,6 +553437,7 @@ xref: OMIM:620184 {source="MONDO:equivalentTo"} xref: UMLS:C5774281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824054"} is_a: MONDO:0000141 {source="OMIM:620184"} ! mosaic variegated aneuploidy syndrome is_a: MONDO:0859393 {source="OMIM:620184"} ! Atelis syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17814 {source="OMIM:620184"} [Term] id: MONDO:0859576 @@ -554923,6 +553449,7 @@ xref: OMIM:620185 {source="MONDO:equivalentTo"} xref: UMLS:C5774282 {source="MEDGEN:1824055", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000141 {source="OMIM:620185"} ! mosaic variegated aneuploidy syndrome is_a: MONDO:0859393 {source="OMIM:620185"} ! Atelis syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20465 {source="OMIM:620185"} [Term] id: MONDO:0859577 @@ -555119,7 +553646,6 @@ xref: MEDGEN:1843426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:634475 {source="MONDO:equivalentTo"} xref: UMLS:C5816778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843426"} is_a: MONDO:0859008 {source="Orphanet:634475", source="https://orcid.org/0000-0001-5208-3432"} ! neurofibromatosis/schwannomatosis -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7773 {source="Orphanet:634475", source="https://orcid.org/0000-0001-5208-3432"} ! NF2 [Term] id: MONDO:0859765 @@ -555607,6 +554133,7 @@ xref: MEDGEN:1840203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301106 {source="MONDO:equivalentTo"} xref: UMLS:C5829567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840203"} is_a: MONDO:0004983 {source="OMIM:301106"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26047 {source="OMIM:301106"} [Term] id: MONDO:0957203 @@ -555618,6 +554145,7 @@ xref: MEDGEN:1840204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301107 {source="MONDO:equivalentTo"} xref: UMLS:C5829568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840204"} is_a: MONDO:0019181 {source="DOID:0060929", source="OMIM:301107"} ! non-syndromic X-linked intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13449 {source="OMIM:301107"} [Term] id: MONDO:0957204 @@ -555626,6 +554154,7 @@ xref: MEDGEN:1841007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620296 {source="MONDO:equivalentTo"} xref: UMLS:C5830371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841007"} is_a: MONDO:0003847 {source="OMIM:620296"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4840 {source="OMIM:620296"} [Term] id: MONDO:0957208 @@ -555652,6 +554181,7 @@ xref: MEDGEN:1841021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620306 {source="MONDO:equivalentTo"} xref: UMLS:C5830385 {source="MEDGEN:1841021", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620306"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11016 {source="OMIM:620306"} [Term] id: MONDO:0957215 @@ -555663,6 +554193,7 @@ xref: MEDGEN:1841029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620310 {source="MONDO:equivalentTo"} xref: UMLS:C5830393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841029"} is_a: MONDO:0019952 {source="DOID:0081352", source="OMIM:620310"} ! congenital myopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10485 {source="OMIM:620310"} [Term] id: MONDO:0957216 @@ -555681,6 +554212,7 @@ xref: MEDGEN:1841043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620316 {source="MONDO:equivalentTo"} xref: UMLS:C5830407 {source="MEDGEN:1841043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000904 {source="OMIM:620316"} ! complex cortical dysplasia with other brain malformations +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19946 {source="OMIM:620316"} [Term] id: MONDO:0957218 @@ -555698,6 +554230,7 @@ xref: MEDGEN:1841054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620319 {source="MONDO:equivalentTo"} xref: UMLS:C5830418 {source="MEDGEN:1841054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0014769 {source="OMIM:620319"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21839 {source="OMIM:620319"} [Term] id: MONDO:0957221 @@ -555718,6 +554251,7 @@ xref: MEDGEN:1841060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620326 {source="MONDO:equivalentTo"} xref: UMLS:C5830424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841060"} is_a: MONDO:0019952 {source="DOID:0081353", source="OMIM:620326"} ! congenital myopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14886 {source="OMIM:620326"} [Term] id: MONDO:0957225 @@ -555729,6 +554263,7 @@ xref: OMIM:620327 {source="MONDO:equivalentTo"} xref: UMLS:C5830433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841069"} is_a: MONDO:0003847 {source="OMIM:620327"} ! hereditary disease is_a: MONDO:0005559 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/32687 {source="OMIM:620327"} [Term] id: MONDO:0957228 @@ -555737,6 +554272,7 @@ xref: MEDGEN:1841073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620330 {source="MONDO:equivalentTo"} xref: UMLS:C5830437 {source="MEDGEN:1841073", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0100172 {source="OMIM:620330"} ! intellectual disability, autosomal dominant +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25777 {source="OMIM:620330"} [Term] id: MONDO:0957229 @@ -555745,6 +554281,7 @@ xref: MEDGEN:1841075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620331 {source="MONDO:equivalentTo"} xref: UMLS:C5830439 {source="MEDGEN:1841075", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:620331"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18648 {source="OMIM:620331"} [Term] id: MONDO:0957230 @@ -555753,6 +554290,7 @@ xref: MEDGEN:1841077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620332 {source="MONDO:equivalentTo"} xref: UMLS:C5830441 {source="MEDGEN:1841077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0014769 {source="OMIM:620332"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/22948 {source="OMIM:620332"} [Term] id: MONDO:0957231 @@ -555761,6 +554299,7 @@ xref: MEDGEN:1841078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620333 {source="MONDO:equivalentTo"} xref: UMLS:C5830442 {source="MONDO:equivalentTo", source="MEDGEN:1841078", source="MONDO:MEDGEN"} is_a: MONDO:0014769 {source="OMIM:620333"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21269 {source="OMIM:620333"} [Term] id: MONDO:0957240 @@ -555805,6 +554344,7 @@ xref: MEDGEN:1841104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620353 {source="MONDO:equivalentTo"} xref: UMLS:C5830468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841104"} is_a: MONDO:0004983 {source="OMIM:620353"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/373 {source="OMIM:620353"} [Term] id: MONDO:0957250 @@ -555813,6 +554353,7 @@ xref: MEDGEN:1841106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620354 {source="MONDO:equivalentTo"} xref: UMLS:C5830470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841106"} is_a: MONDO:0004983 {source="OMIM:620354"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14353 {source="OMIM:620354"} [Term] id: MONDO:0957252 @@ -555823,6 +554364,7 @@ xref: MEDGEN:1841109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620356 {source="MONDO:equivalentTo"} xref: UMLS:C5830473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841109"} is_a: MONDO:0016575 {source="OMIM:620356"} ! primary ciliary dyskinesia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18661 {source="OMIM:620356"} [Term] id: MONDO:0957253 @@ -555831,6 +554373,7 @@ xref: MEDGEN:1841113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620357 {source="MONDO:equivalentTo"} xref: UMLS:C5830477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841113"} is_a: MONDO:0000824 {source="OMIM:620357"} ! congenital diarrhea +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16526 {source="OMIM:620357"} [Term] id: MONDO:0957254 @@ -555853,6 +554396,7 @@ xref: MEDGEN:1841118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620359 {source="MONDO:equivalentTo"} xref: UMLS:C5830482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841118"} is_a: MONDO:0014471 {source="DOID:0070464", source="OMIM:620359"} ! mitochondrial proton-transporting ATP synthase complex deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/850 {source="OMIM:620359"} [Term] id: MONDO:0957260 @@ -555871,6 +554415,7 @@ xref: MEDGEN:1841121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620365 {source="MONDO:equivalentTo"} xref: UMLS:C5830485 {source="MEDGEN:1841121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000148 {source="OMIM:620365"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25126 {source="OMIM:620365"} [Term] id: MONDO:0957262 @@ -555881,6 +554426,7 @@ xref: MEDGEN:1841123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620366 {source="MONDO:equivalentTo"} xref: UMLS:C5830487 {source="MEDGEN:1841123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019026 {source="OMIM:620366"} ! autosomal recessive osteopetrosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11028 {source="OMIM:620366"} [Term] id: MONDO:0957263 @@ -555920,6 +554466,7 @@ xref: MEDGEN:1841140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620370 {source="MONDO:equivalentTo"} xref: UMLS:C5830504 {source="MEDGEN:1841140", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620370"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9948 {source="OMIM:620370"} [Term] id: MONDO:0957267 @@ -555929,6 +554476,7 @@ xref: OMIM:620371 {source="MONDO:equivalentTo"} xref: UMLS:C5830509 {source="MEDGEN:1841145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620371", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17474 {source="OMIM:620371"} [Term] id: MONDO:0957268 @@ -555961,6 +554509,7 @@ xref: OMIM:620376 {source="MONDO:equivalentTo"} xref: UMLS:C5830525 {source="MEDGEN:1841161", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620376", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6735 {source="OMIM:620376"} [Term] id: MONDO:0957273 @@ -555982,6 +554531,7 @@ xref: MEDGEN:1841167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620379 {source="MONDO:equivalentTo"} xref: UMLS:C5830531 {source="MEDGEN:1841167", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019064 {source="DOID:0070458", source="OMIM:620379"} ! hereditary spastic paraplegia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/463 {source="OMIM:620379"} [Term] id: MONDO:0957278 @@ -555990,6 +554540,7 @@ xref: MEDGEN:1841175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620383 {source="MONDO:equivalentTo"} xref: UMLS:C5830539 {source="MEDGEN:1841175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0014769 {source="OMIM:620383"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7199 {source="OMIM:620383"} [Term] id: MONDO:0957279 @@ -556032,6 +554583,7 @@ xref: MEDGEN:1841189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620393 {source="MONDO:equivalentTo"} xref: UMLS:C5830553 {source="MEDGEN:1841189", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019502 {source="OMIM:620393"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12017 {source="OMIM:620393"} [Term] id: MONDO:0957294 @@ -556050,6 +554602,7 @@ xref: MEDGEN:1841198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620409 {source="MONDO:equivalentTo"} xref: UMLS:C5830562 {source="MEDGEN:1841198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="OMIM:620409"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15872 {source="OMIM:620409"} [Term] id: MONDO:0957303 @@ -556069,6 +554622,7 @@ xref: MEDGEN:375148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620415 {source="MONDO:equivalentTo"} xref: UMLS:C1843292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375148"} is_a: MONDO:0003847 {source="OMIM:620415"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12422 {source="OMIM:620415"} [Term] id: MONDO:0957308 @@ -556103,6 +554657,7 @@ xref: UMLS:C5830579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:620422", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019200 {source="https://orcid.org/0000-0001-5208-3432"} ! retinitis pigmentosa relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29071 {source="OMIM:620422"} [Term] id: MONDO:0957316 @@ -556176,6 +554731,7 @@ xref: MEDGEN:1841222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620423 {source="MONDO:equivalentTo"} xref: UMLS:C5830586 {source="MEDGEN:1841222", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017338 {source="OMIM:620423"} ! fatal multiple mitochondrial dysfunctions syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4208 {source="OMIM:620423"} [Term] id: MONDO:0957385 @@ -556187,6 +554743,7 @@ xref: MEDGEN:1841228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620427 {source="MONDO:equivalentTo"} xref: UMLS:C5830592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841228"} is_a: MONDO:0044807 {source="OMIM:620427"} ! inherited dystonia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17359 {source="OMIM:620427"} [Term] id: MONDO:0957386 @@ -556197,6 +554754,7 @@ xref: OMIM:620428 {source="MONDO:equivalentTo"} xref: UMLS:C5830596 {source="MONDO:equivalentTo", source="MEDGEN:1841232", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620428", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26052 {source="OMIM:620428"} [Term] id: MONDO:0957388 @@ -556205,6 +554763,7 @@ xref: MEDGEN:1841236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620430 {source="MONDO:equivalentTo"} xref: UMLS:C5830600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841236"} is_a: MONDO:0000213 {source="OMIM:620430"} ! autoimmune disease, multisystem, infantile-onset +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1542 {source="OMIM:620430"} [Term] id: MONDO:0957396 @@ -556215,6 +554774,7 @@ xref: MEDGEN:1841244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620438 {source="MONDO:equivalentTo"} xref: UMLS:C5830608 {source="MEDGEN:1841244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016575 {source="OMIM:620438"} ! primary ciliary dyskinesia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12760 {source="OMIM:620438"} [Term] id: MONDO:0957397 @@ -556233,6 +554793,7 @@ xref: OMIM:620439 {source="MONDO:equivalentTo"} xref: Orphanet:652487 {source="MONDO:equivalentTo"} xref: UMLS:C5830612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841248"} is_a: MONDO:0100172 {source="OMIM:620439"} ! intellectual disability, autosomal dominant +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16639 {source="OMIM:620439"} [Term] id: MONDO:0957400 @@ -556695,6 +555256,7 @@ xref: OMIM:301109 {source="MONDO:equivalentTo"} xref: UMLS:C5829577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840213"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23483 {source="OMIM:301109"} [Term] id: MONDO:0957495 @@ -556715,6 +555277,7 @@ xref: MEDGEN:1840225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301111 {source="MONDO:equivalentTo"} xref: UMLS:C5829589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840225"} is_a: MONDO:0019181 {source="OMIM:301111"} ! non-syndromic X-linked intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13054 {source="OMIM:301111"} [Term] id: MONDO:0957497 @@ -556759,6 +555322,7 @@ xref: OMIM:620445 {source="MONDO:equivalentTo"} xref: UMLS:C5830624 {source="MEDGEN:1841260", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620445", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29029 {source="OMIM:620445"} [Term] id: MONDO:0957533 @@ -556767,6 +555331,7 @@ xref: MEDGEN:1841261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620447 {source="MONDO:equivalentTo"} xref: UMLS:C5830625 {source="MEDGEN:1841261", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000137 {source="OMIM:620447"} ! leukoencephalopathy, megalencephalic +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13308 {source="OMIM:620447"} [Term] id: MONDO:0957534 @@ -556775,6 +555340,7 @@ xref: MEDGEN:1841264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620448 {source="MONDO:equivalentTo"} xref: UMLS:C5830628 {source="MEDGEN:1841264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000137 {source="OMIM:620448"} ! leukoencephalopathy, megalencephalic +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/637 {source="OMIM:620448"} [Term] id: MONDO:0957535 @@ -556784,6 +555350,7 @@ xref: OMIM:620449 {source="MONDO:equivalentTo"} xref: UMLS:C5830633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841269"} is_a: MONDO:0003847 {source="OMIM:620449", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0021094 {source="OMIM:620449", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6853 {source="OMIM:620449"} [Term] id: MONDO:0957536 @@ -556795,6 +555362,7 @@ xref: OMIM:620450 {source="MONDO:equivalentTo"} xref: UMLS:C5830636 {source="MEDGEN:1841272", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620450", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015802 {source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11537 {source="OMIM:620450"} [Term] id: MONDO:0957537 @@ -556805,6 +555373,7 @@ xref: MEDGEN:1841277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620451 {source="MONDO:equivalentTo"} xref: UMLS:C5830641 {source="MEDGEN:1841277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="OMIM:620451"} ! combined oxidative phosphorylation deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26223 {source="OMIM:620451"} [Term] id: MONDO:0957538 @@ -556837,6 +555406,7 @@ xref: MEDGEN:1841287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620454 {source="MONDO:equivalentTo"} xref: UMLS:C5830651 {source="MONDO:equivalentTo", source="MEDGEN:1841287", source="MONDO:MEDGEN"} is_a: MONDO:0005501 {source="OMIM:620454"} ! congenital disorder of glycosylation type II +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11440 {source="OMIM:620454"} [Term] id: MONDO:0957541 @@ -556847,6 +555417,7 @@ xref: OMIM:620455 {source="MONDO:equivalentTo"} xref: UMLS:C5830654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841290"} is_a: MONDO:0003847 {source="OMIM:620455", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3284 {source="OMIM:620455"} [Term] id: MONDO:0957542 @@ -556868,6 +555439,7 @@ xref: MEDGEN:1841295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620457 {source="MONDO:equivalentTo"} xref: UMLS:C5830659 {source="MEDGEN:1841295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000107 {source="OMIM:620457"} ! auriculocondylar syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14065 {source="OMIM:620457"} [Term] id: MONDO:0957544 @@ -556888,6 +555460,7 @@ xref: MEDGEN:1841321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620462 {source="MONDO:equivalentTo"} xref: UMLS:C5830685 {source="MEDGEN:1841321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016333 {source="OMIM:620462"} ! familial dilated cardiomyopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20039 {source="OMIM:620462"} [Term] id: MONDO:0957553 @@ -556931,6 +555504,7 @@ xref: UMLS:C5882673 {source="MEDGEN:1846830", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:620461"} ! hereditary disease is_a: MONDO:0020573 {source="OMIM:620461"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0000166 {source="OMIM:620461", source="https://orcid.org/0000-0001-5208-3432"} ! encephalopathy, acute, infection-induced +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10074 {source="OMIM:620461"} relationship: predisposes_towards MONDO:0000166 {source="OMIM:620461"} ! encephalopathy, acute, infection-induced [Term] @@ -556940,6 +555514,7 @@ xref: MEDGEN:1848439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620469 {source="MONDO:equivalentTo"} xref: UMLS:C5882675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1848439"} is_a: MONDO:0003847 {source="OMIM:620469"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/7764 {source="OMIM:620469"} [Term] id: MONDO:0957564 @@ -556977,6 +555552,7 @@ xref: OMIM:620482 {source="MONDO:equivalentTo"} xref: UMLS:C5882680 {source="MEDGEN:1845571", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620482"} ! hereditary disease is_a: MONDO:0005180 {source="OMIM:620482"} ! Parkinson disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9308 {source="OMIM:620482"} [Term] id: MONDO:0957577 @@ -557012,6 +555588,7 @@ xref: OMIM:620486 {source="MONDO:equivalentTo"} xref: UMLS:C5882683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1846290"} is_a: MONDO:0000009 {source="OMIM:620486"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0003847 {source="OMIM:620486"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12013 {source="OMIM:620486"} [Term] id: MONDO:0957583 @@ -557022,6 +555599,7 @@ xref: OMIM:620489 {source="MONDO:equivalentTo"} xref: UMLS:C5882684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1852093"} is_a: MONDO:0003847 {source="OMIM:620489"} ! hereditary disease is_a: MONDO:0700092 {source="OMIM:620489"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10780 {source="OMIM:620489"} [Term] id: MONDO:0957584 @@ -557031,6 +555609,7 @@ xref: OMIM:620490 {source="MONDO:equivalentTo"} xref: UMLS:C5882685 {source="MEDGEN:1849976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620490"} ! hereditary disease is_a: MONDO:0004983 {source="OMIM:620490"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14967 {source="OMIM:620490"} [Term] id: MONDO:0957588 @@ -557040,6 +555619,7 @@ xref: OMIM:620494 {source="MONDO:equivalentTo"} xref: UMLS:C5882686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1847194"} is_a: MONDO:0003847 {source="OMIM:620494"} ! hereditary disease is_a: MONDO:0700092 {source="OMIM:620494"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29877 {source="OMIM:620494"} [Term] id: MONDO:0957593 @@ -557049,6 +555629,7 @@ xref: OMIM:620499 {source="MONDO:equivalentTo"} xref: UMLS:C5882755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1847370"} is_a: MONDO:0003847 {source="OMIM:620499"} ! hereditary disease is_a: MONDO:0004983 {source="OMIM:620499"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/161 {source="OMIM:620499"} [Term] id: MONDO:0957594 @@ -557058,6 +555639,7 @@ xref: OMIM:620500 {source="MONDO:equivalentTo"} xref: UMLS:C5882687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1852637"} is_a: MONDO:0003847 {source="OMIM:620500"} ! hereditary disease is_a: MONDO:0004983 {source="OMIM:620500"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/126 {source="OMIM:620500"} [Term] id: MONDO:0957595 @@ -557069,6 +555651,7 @@ xref: OMIM:620501 {source="MONDO:equivalentTo"} xref: UMLS:C5882688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1844409"} is_a: MONDO:0000159 {source="OMIM:620501"} ! bone marrow failure syndrome is_a: MONDO:0003847 {source="OMIM:620501"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19306 {source="OMIM:620501"} [Term] id: MONDO:0957599 @@ -557085,6 +555668,7 @@ xref: OMIM:620502 {source="MONDO:equivalentTo"} xref: UMLS:C5882689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1850358"} is_a: MONDO:0003847 {source="OMIM:620502"} ! hereditary disease is_a: MONDO:0700092 {source="OMIM:620502"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4070 {source="OMIM:620502"} [Term] id: MONDO:0957780 @@ -557107,6 +555691,7 @@ xref: OMIM:620507 {source="MONDO:equivalentTo"} xref: UMLS:C5882691 {source="MEDGEN:1852819", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620507"} ! hereditary disease is_a: MONDO:0015947 {source="OMIM:620507"} ! inherited ichthyosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6359 {source="OMIM:620507"} [Term] id: MONDO:0957786 @@ -557125,6 +555710,7 @@ xref: OMIM:620511 {source="MONDO:equivalentTo"} xref: UMLS:C5882693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1845438"} is_a: MONDO:0002254 {source="OMIM:620511"} ! syndromic disease is_a: MONDO:0003847 {source="OMIM:620511"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19304 {source="OMIM:620511"} [Term] id: MONDO:0957788 @@ -557144,6 +555730,7 @@ xref: MEDGEN:1847968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620514 {source="MONDO:equivalentTo"} xref: UMLS:C5848750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1847968"} is_a: MONDO:0003847 {source="OMIM:620514"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9065 {source="OMIM:620514"} [Term] id: MONDO:0957791 @@ -557153,6 +555740,7 @@ xref: OMIM:620515 {source="MONDO:equivalentTo"} xref: UMLS:C5882695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1846192"} is_a: MONDO:0003847 {source="OMIM:620515"} ! hereditary disease is_a: MONDO:0700092 {source="OMIM:620515"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11137 {source="OMIM:620515"} [Term] id: MONDO:0957795 @@ -557161,6 +555749,7 @@ xref: MEDGEN:1847702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620519 {source="MONDO:equivalentTo"} xref: UMLS:C5882696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1847702"} is_a: MONDO:0003847 {source="OMIM:620519"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18838 {source="OMIM:620519"} [Term] id: MONDO:0957807 @@ -557172,6 +555761,7 @@ xref: OMIM:620532 {source="MONDO:equivalentTo"} xref: UMLS:C5848786 {source="MEDGEN:1851769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620532"} ! hereditary disease is_a: MONDO:0018037 {source="OMIM:620532"} ! hyper-IgE syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11368 {source="OMIM:620532"} [Term] id: MONDO:0957809 @@ -557183,6 +555773,7 @@ xref: OMIM:620534 {source="MONDO:equivalentTo"} xref: UMLS:C5882756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1851433"} is_a: MONDO:0003847 {source="OMIM:620534"} ! hereditary disease is_a: MONDO:0018542 {source="OMIM:620534"} ! severe congenital neutropenia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11302 {source="OMIM:620534"} [Term] id: MONDO:0957810 @@ -557192,6 +555783,7 @@ xref: MEDGEN:1847857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620535 {source="MONDO:equivalentTo"} xref: UMLS:C5882698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1847857"} is_a: MONDO:0003847 {source="OMIM:620535"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23156 {source="OMIM:620535"} [Term] id: MONDO:0957811 @@ -557214,6 +555806,7 @@ xref: OMIM:620537 {source="MONDO:equivalentTo"} xref: UMLS:C5882700 {source="MEDGEN:1845523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620537"} ! hereditary disease is_a: MONDO:0100062 {source="OMIM:620537"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6254 {source="OMIM:620537"} [Term] id: MONDO:0957813 @@ -557244,6 +555837,7 @@ xref: OMIM:620545 {source="MONDO:equivalentTo"} xref: UMLS:C5882704 {source="MEDGEN:1847896", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620545"} ! hereditary disease is_a: MONDO:0019942 {source="OMIM:620545"} ! distal arthrogryposis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16305 {source="OMIM:620545"} [Term] id: MONDO:0957820 @@ -557257,6 +555851,7 @@ xref: OMIM:620546 {source="MONDO:equivalentTo"} xref: UMLS:C5882705 {source="MONDO:equivalentTo", source="MEDGEN:1846347", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620546"} ! hereditary disease is_a: MONDO:0005501 {source="OMIM:620546"} ! congenital disorder of glycosylation type II +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18619 {source="OMIM:620546"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7276" xsd:anyURI [Term] @@ -557289,6 +555884,7 @@ xref: OMIM:620550 {source="MONDO:equivalentTo"} xref: UMLS:C5882708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1851745"} is_a: MONDO:0003847 {source="OMIM:620550"} ! hereditary disease is_a: MONDO:0043878 {source="OMIM:620550"} ! hereditary optic atrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25979 {source="OMIM:620550"} [Term] id: MONDO:0957825 @@ -557302,6 +555898,7 @@ xref: UMLS:C5882709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="OMIM:620551"} ! hereditary disease is_a: MONDO:0019588 {source="OMIM:620551"} ! hearing loss, autosomal recessive relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20844 {source="OMIM:620551"} [Term] id: MONDO:0957832 @@ -557322,6 +555919,7 @@ xref: OMIM:620312 {source="MONDO:equivalentTo"} xref: UMLS:C5830404 {source="MEDGEN:1841040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620312"} ! hereditary disease is_a: MONDO:0800448 {source="DOID:0070373", source="OMIM:620312"} ! leukoencephalopathy with vanishing white matter +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3258 {source="OMIM:620312"} [Term] id: MONDO:0957871 @@ -557334,6 +555932,7 @@ xref: OMIM:620313 {source="MONDO:equivalentTo"} xref: UMLS:C5830405 {source="MEDGEN:1841041", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620313"} ! hereditary disease is_a: MONDO:0800448 {source="DOID:0070372", source="OMIM:620313"} ! leukoencephalopathy with vanishing white matter +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3259 {source="OMIM:620313"} [Term] id: MONDO:0957872 @@ -557346,6 +555945,7 @@ xref: OMIM:620314 {source="MONDO:equivalentTo"} xref: UMLS:C5830406 {source="MEDGEN:1841042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620314"} ! hereditary disease is_a: MONDO:0800448 {source="DOID:0070371", source="OMIM:620314"} ! leukoencephalopathy with vanishing white matter +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3260 {source="OMIM:620314"} [Term] id: MONDO:0957873 @@ -557358,6 +555958,7 @@ xref: OMIM:620315 {source="MONDO:equivalentTo"} xref: UMLS:C5779973 {source="MEDGEN:1830483", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620315"} ! hereditary disease is_a: MONDO:0800448 {source="DOID:0070367", source="OMIM:620315"} ! leukoencephalopathy with vanishing white matter +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3261 {source="OMIM:620315"} [Term] id: MONDO:0957874 @@ -557419,6 +556020,7 @@ xref: OMIM:301114 {source="MONDO:equivalentTo"} xref: UMLS:C5882664 {source="MEDGEN:1849943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="OMIM:301114"} ! syndromic disease is_a: MONDO:0003847 {source="OMIM:301114"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/27040 {source="OMIM:301114"} [Term] id: MONDO:0957920 @@ -557428,6 +556030,7 @@ xref: OMIM:620565 {source="MONDO:equivalentTo"} xref: UMLS:C5882711 {source="MONDO:equivalentTo", source="MEDGEN:1851770", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620565"} ! hereditary disease is_a: MONDO:0021094 {source="OMIM:620565"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/708 {source="OMIM:620565"} [Term] id: MONDO:0957921 @@ -557440,6 +556043,7 @@ xref: OMIM:620568 {source="MONDO:equivalentTo"} xref: UMLS:C5882712 {source="MEDGEN:1848930", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620568"} ! hereditary disease is_a: MONDO:0016033 {source="DOID:0060970", source="OMIM:620568"} ! Cornelia de Lange syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13575 {source="OMIM:620568"} [Term] id: MONDO:0957922 @@ -557451,6 +556055,7 @@ xref: OMIM:620570 {source="MONDO:equivalentTo"} xref: UMLS:C5882714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1852921"} is_a: MONDO:0003847 {source="OMIM:620570"} ! hereditary disease is_a: MONDO:0016575 {source="OMIM:620570"} ! primary ciliary dyskinesia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/26383 {source="OMIM:620570"} [Term] id: MONDO:0957928 @@ -557463,6 +556068,7 @@ xref: OMIM:620576 {source="MONDO:equivalentTo"} xref: UMLS:C5882715 {source="MEDGEN:1846918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620576"} ! hereditary disease is_a: MONDO:0005349 {source="DOID:0060928", source="OMIM:620576"} ! otosclerosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3817 {source="OMIM:620576"} [Term] id: MONDO:0957935 @@ -557474,6 +556080,7 @@ xref: OMIM:620583 {source="MONDO:equivalentTo"} xref: UMLS:C5882716 {source="MEDGEN:1849731", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620583"} ! hereditary disease is_a: MONDO:0043878 {source="OMIM:620583"} ! hereditary optic atrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29622 {source="OMIM:620583"} [Term] id: MONDO:0957953 @@ -557485,6 +556092,7 @@ xref: OMIM:620601 {source="MONDO:equivalentTo"} xref: UMLS:C5882717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1847272"} is_a: MONDO:0003847 {source="OMIM:620601"} ! hereditary disease is_a: MONDO:0020732 {source="OMIM:620601"} ! progeria +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21648 {source="OMIM:620601"} [Term] id: MONDO:0957954 @@ -557496,6 +556104,7 @@ xref: OMIM:620602 {source="MONDO:equivalentTo"} xref: UMLS:C5882718 {source="MEDGEN:1851480", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620602"} ! hereditary disease is_a: MONDO:0019313 {source="OMIM:620602"} ! lymphatic malformation +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3446 {source="OMIM:620602"} [Term] id: MONDO:0957955 @@ -557525,6 +556134,7 @@ xref: OMIM:620609 {source="MONDO:equivalentTo"} xref: UMLS:C5882721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1847052"} is_a: MONDO:0002254 {source="OMIM:620609"} ! syndromic disease is_a: MONDO:0003847 {source="OMIM:620609"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19902 {source="OMIM:620609"} [Term] id: MONDO:0957961 @@ -557534,6 +556144,7 @@ xref: OMIM:620610 {source="MONDO:equivalentTo"} xref: UMLS:C5882722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1845812"} is_a: MONDO:0003847 {source="OMIM:620610"} ! hereditary disease is_a: MONDO:0014769 {source="OMIM:620610"} ! inherited oocyte maturation defect +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1925 {source="OMIM:620610"} [Term] id: MONDO:0957978 @@ -557554,6 +556165,7 @@ xref: OMIM:620632 {source="MONDO:equivalentTo"} xref: UMLS:C5882724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1847791"} is_a: MONDO:0003847 {source="OMIM:620632"} ! hereditary disease is_a: MONDO:0021094 {source="OMIM:620632"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16031 {source="OMIM:620632"} [Term] id: MONDO:0957984 @@ -557565,6 +556177,7 @@ xref: OMIM:620635 {source="MONDO:equivalentTo"} xref: UMLS:C5882725 {source="MEDGEN:1846005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620635"} ! hereditary disease is_a: MONDO:0016333 {source="OMIM:620635"} ! familial dilated cardiomyopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3750 {source="OMIM:620635"} [Term] id: MONDO:0957985 @@ -557584,6 +556197,7 @@ xref: OMIM:620639 {source="MONDO:equivalentTo"} xref: UMLS:C5882757 {source="MEDGEN:1846121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620639"} ! hereditary disease is_a: MONDO:0019019 {source="OMIM:620639"} ! osteogenesis imperfecta +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23697 {source="OMIM:620639"} [Term] id: MONDO:0957990 @@ -557593,6 +556207,7 @@ xref: OMIM:620641 {source="MONDO:equivalentTo"} xref: UMLS:C5882727 {source="MEDGEN:1848300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="OMIM:620641"} ! syndromic disease is_a: MONDO:0003847 {source="OMIM:620641"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3029 {source="OMIM:620641"} [Term] id: MONDO:0957991 @@ -557604,6 +556219,7 @@ xref: OMIM:620642 {source="MONDO:equivalentTo"} xref: UMLS:C5882728 {source="MEDGEN:1851509", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620642"} ! hereditary disease is_a: MONDO:0016575 {source="OMIM:620642"} ! primary ciliary dyskinesia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25678 {source="OMIM:620642"} [Term] id: MONDO:0957992 @@ -557615,6 +556231,7 @@ xref: OMIM:620646 {source="MONDO:equivalentTo"} xref: UMLS:C5882730 {source="MEDGEN:1845781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000732 {source="OMIM:620646"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="OMIM:620646"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14027 {source="OMIM:620646"} [Term] id: MONDO:0957993 @@ -557626,6 +556243,7 @@ xref: OMIM:620647 {source="MONDO:equivalentTo"} xref: UMLS:C5882731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1847098"} is_a: MONDO:0000090 {source="OMIM:620647"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions is_a: MONDO:0003847 {source="OMIM:620647"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10451 {source="OMIM:620647"} [Term] id: MONDO:0957997 @@ -557635,6 +556253,7 @@ xref: OMIM:620651 {source="MONDO:equivalentTo"} xref: UMLS:C5882732 {source="MONDO:equivalentTo", source="MEDGEN:1845412", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="OMIM:620651"} ! syndromic disease is_a: MONDO:0003847 {source="OMIM:620651"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/15461 {source="OMIM:620651"} [Term] id: MONDO:0957999 @@ -557646,6 +556265,7 @@ xref: OMIM:620653 {source="MONDO:equivalentTo"} xref: UMLS:C5882733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1850178"} is_a: MONDO:0003847 {source="OMIM:620653"} ! hereditary disease is_a: MONDO:0019502 {source="OMIM:620653"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1503 {source="OMIM:620653"} [Term] id: MONDO:0958000 @@ -557657,6 +556277,7 @@ xref: OMIM:620654 {source="MONDO:equivalentTo"} xref: UMLS:C5882734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1846947"} is_a: MONDO:0003847 {source="OMIM:620654"} ! hereditary disease is_a: MONDO:0100241 {source="OMIM:620654"} ! inherited thrombocytopenia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9857 {source="OMIM:620654"} [Term] id: MONDO:0958001 @@ -557666,6 +556287,7 @@ xref: OMIM:620655 {source="MONDO:equivalentTo"} xref: UMLS:C5882735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1845825"} is_a: MONDO:0002254 {source="OMIM:620655"} ! syndromic disease is_a: MONDO:0003847 {source="OMIM:620655"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9859 {source="OMIM:620655"} [Term] id: MONDO:0958005 @@ -557761,6 +556383,7 @@ xref: OMIM:620679 {source="MONDO:equivalentTo"} xref: UMLS:C5882744 {source="MEDGEN:1846436", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620679"} ! hereditary disease is_a: MONDO:0020088 {source="OMIM:620679"} ! familial partial lipodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/281 {source="OMIM:620679"} [Term] id: MONDO:0958023 @@ -557780,6 +556403,7 @@ xref: MEDGEN:1852539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301115 {source="MONDO:equivalentTo"} xref: UMLS:C5882665 {source="MEDGEN:1852539", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021094 {source="OMIM:301115"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23357 {source="OMIM:301115"} [Term] id: MONDO:0958034 @@ -557790,6 +556414,7 @@ xref: MEDGEN:1845936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620683 {source="MONDO:equivalentTo"} xref: UMLS:C5882746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1845936"} is_a: MONDO:0020088 {source="OMIM:620683"} ! familial partial lipodystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17825 {source="OMIM:620683"} [Term] id: MONDO:0958035 @@ -557822,8 +556447,8 @@ xref: Orphanet:643538 {source="MONDO:equivalentTo"} xref: UMLS:C5816734 {source="MEDGEN:1853151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0014805 {source="Orphanet:643538"} ! Hao-Fountain syndrome intersection_of: MONDO:0014805 ! Hao-Fountain syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12630 ! USP7 -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12630 {source="OMIM:616863"} ! USP7 +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12630 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12630 {source="OMIM:616863"} [Term] id: MONDO:0958075 @@ -558260,6 +556885,7 @@ xref: MEDGEN:501171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:164210 {source="MONDO:equivalentTo"} xref: UMLS:C3495417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501171"} is_a: MONDO:0015397 {source="OMIM:164210"} ! craniofacial microsomia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10769 {source="OMIM:164210"} [Term] id: MONDO:0958176 @@ -558269,6 +556895,7 @@ subset: rare xref: NCIT:C84942 {source="MONDO:equivalentTo"} xref: OMIM:164300 {source="MONDO:equivalentTo"} is_a: MONDO:0008116 {source="OMIM:164300"} ! oculopharyngeal muscular dystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/8565 {source="OMIM:164300"} [Term] id: MONDO:0958177 @@ -558277,6 +556904,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: OMIM:259680 {source="MONDO:equivalentTo"} is_a: MONDO:0009813 {source="OMIM:259680"} ! chronic recurrent multifocal osteomyelitis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5993 {source="OMIM:259680"} [Term] id: MONDO:0958178 @@ -558293,6 +556921,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: OMIM:605899 {source="MONDO:equivalentTo"} is_a: MONDO:0011612 {source="OMIM:605899"} ! glycine encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4313 {source="OMIM:605899"} [Term] id: MONDO:0958180 @@ -558304,6 +556933,7 @@ xref: MEDGEN:1840510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608415 {source="MONDO:equivalentTo"} xref: UMLS:C5829874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840510"} is_a: MONDO:0012033 {source="DOID:0070363", source="OMIM:608415"} ! bradyopsia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/10004 {source="OMIM:608415"} [Term] id: MONDO:0958181 @@ -558320,6 +556950,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: OMIM:613652 {source="MONDO:equivalentTo"} is_a: MONDO:0013343 {source="OMIM:613652"} ! C1Q deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1241 {source="OMIM:613652"} [Term] id: MONDO:0958183 @@ -558329,6 +556960,7 @@ subset: rare xref: OMIM:619382 {source="MONDO:equivalentTo"} is_a: MONDO:0030309 {source="OMIM:619382"} ! Leber hereditary optic neuropathy, autosomal recessive is_a: MONDO:0100223 {source="OMIM:619382"} ! mitochondrial complex I deficiency, nuclear type +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16410 {source="OMIM:619382"} [Term] id: MONDO:0958184 @@ -558350,6 +556982,7 @@ xref: MEDGEN:1841010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620300 {source="MONDO:equivalentTo"} xref: UMLS:C5830374 {source="MEDGEN:1841010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0012172 {source="OMIM:620300"} ! mitochondrial trifunctional protein deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4803 {source="OMIM:620300"} [Term] id: MONDO:0958186 @@ -558368,6 +557001,7 @@ xref: MEDGEN:1841058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620321 {source="MONDO:equivalentTo"} xref: UMLS:C5830422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841058"} is_a: MONDO:0013343 {source="OMIM:620321"} ! C1Q deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1242 {source="OMIM:620321"} [Term] id: MONDO:0958188 @@ -558378,6 +557012,7 @@ xref: MEDGEN:1841059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620322 {source="MONDO:equivalentTo"} xref: UMLS:C5830423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841059"} is_a: MONDO:0013343 {source="OMIM:620322"} ! C1Q deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1245 {source="OMIM:620322"} [Term] id: MONDO:0958189 @@ -558400,6 +557035,7 @@ xref: MEDGEN:1841088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620344 {source="MONDO:equivalentTo"} xref: UMLS:C5830452 {source="MEDGEN:1841088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0012033 {source="DOID:0070364", source="OMIM:620344"} ! bradyopsia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30304 {source="OMIM:620344"} [Term] id: MONDO:0958191 @@ -558408,6 +557044,7 @@ xref: MEDGEN:1841152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620374 {source="MONDO:equivalentTo"} xref: UMLS:C5830516 {source="MEDGEN:1841152", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0957318 {source="OMIM:620374"} ! nephrolithiasis, calcium oxalate +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4531 {source="OMIM:620374"} [Term] id: MONDO:0958192 @@ -558418,6 +557055,7 @@ xref: MEDGEN:1841195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620398 {source="MONDO:equivalentTo"} xref: UMLS:C5830559 {source="MEDGEN:1841195", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011612 {source="OMIM:620398"} ! glycine encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/473 {source="OMIM:620398"} [Term] id: MONDO:0958193 @@ -558436,6 +557074,7 @@ xref: MEDGEN:1830923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620444 {source="MONDO:equivalentTo"} xref: UMLS:C5781610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830923"} is_a: MONDO:0015397 {source="OMIM:620444"} ! craniofacial microsomia +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/35123 {source="OMIM:620444"} [Term] id: MONDO:0958195 @@ -558455,6 +557094,7 @@ xref: MEDGEN:1847911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620465 {source="MONDO:equivalentTo"} xref: UMLS:C5882674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1847911"} is_a: MONDO:0957599 {source="OMIM:620465"} ! epilepsy, early-onset +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/855 {source="OMIM:620465"} [Term] id: MONDO:0958197 @@ -558476,7 +557116,7 @@ xref: MEDGEN:1844054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:254780 {source="MONDO:equivalentTo"} xref: UMLS:C5848203 {source="MEDGEN:1844054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0009697 {source="OMIM:254780"} ! Lafora disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3413 {source="OMIM:254780"} ! EPM2A +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3413 {source="OMIM:254780"} [Term] id: MONDO:0958200 @@ -558487,6 +557127,7 @@ xref: MEDGEN:1852264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301116 {source="MONDO:equivalentTo"} xref: UMLS:C5882666 {source="MEDGEN:1852264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019181 {source="OMIM:301116"} ! non-syndromic X-linked intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2484 {source="OMIM:301116"} [Term] id: MONDO:0958201 @@ -558514,6 +557155,7 @@ xref: MEDGEN:1845603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620688 {source="MONDO:equivalentTo"} xref: UMLS:C5882749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1845603"} is_a: MONDO:0100172 {source="OMIM:620688"} ! intellectual disability, autosomal dominant +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/5035 {source="OMIM:620688"} [Term] id: MONDO:0958204 @@ -558524,6 +557166,7 @@ xref: MEDGEN:1844192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620700 {source="MONDO:equivalentTo"} xref: UMLS:C5882758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1844192"} is_a: MONDO:0019502 {source="OMIM:620700"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18697 {source="OMIM:620700"} [Term] id: MONDO:0958205 @@ -558532,6 +557175,7 @@ xref: MEDGEN:1847314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620703 {source="MONDO:equivalentTo"} xref: UMLS:C5882751 {source="MEDGEN:1847314", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="OMIM:620703"} ! syndromic disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2904 {source="OMIM:620703"} [Term] id: MONDO:0958206 @@ -558540,6 +557184,7 @@ xref: MEDGEN:1852501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620705 {source="MONDO:equivalentTo"} xref: UMLS:C5882752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1852501"} is_a: MONDO:0004983 {source="OMIM:620705"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33814 {source="OMIM:620705"} [Term] id: MONDO:0958224 @@ -558572,12 +557217,14 @@ synonym: "deafness, autosomal recessive 122" NARROW [OMIM:620714] xref: OMIM:620714 {source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="OMIM:620714", source="https://orcid.org/0000-0002-4142-7153"} ! hearing loss, autosomal recessive relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25904 {source="OMIM:620714"} [Term] id: MONDO:0958229 name: bleeding disorder, vascular-type xref: OMIM:620715 {source="MONDO:equivalentTo"} is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-4142-7153"} ! vascular disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25268 {source="OMIM:620715"} [Term] id: MONDO:0958230 @@ -558587,6 +557234,7 @@ subset: rare xref: DOID:0060962 {source="MONDO:equivalentTo"} xref: OMIM:620718 {source="MONDO:equivalentTo"} is_a: MONDO:0015375 {source="DOID:0060962", source="OMIM:620718", source="https://orcid.org/0000-0002-4142-7153"} ! orofaciodigital syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/16519 {source="OMIM:620718"} [Term] id: MONDO:0958231 @@ -558643,12 +557291,14 @@ name: isolated hyperferritinemia synonym: "hyperferritinemia" EXACT [OMIM:620729] xref: OMIM:620729 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/18628 {source="OMIM:620729"} [Term] id: MONDO:0958238 name: hyperemesis gravidarum, susceptibility to xref: OMIM:620730 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30142 {source="OMIM:620730"} relationship: predisposes_towards MONDO:0006791 {source="OMIM:620730", source="https://orcid.org/0000-0002-4142-7153"} ! hyperemesis gravidarum [Term] @@ -558658,12 +557308,14 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: OMIM:620731 {source="MONDO:equivalentTo"} is_a: MONDO:0000170 {source="OMIM:620731", source="https://orcid.org/0000-0002-4142-7153"} ! microphthalmia, isolated, with coloboma +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/4043 {source="OMIM:620731"} [Term] id: MONDO:0958240 name: neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities xref: OMIM:620732 {source="MONDO:equivalentTo"} is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30031 {source="OMIM:620732"} [Term] id: MONDO:0958241 @@ -558678,6 +557330,7 @@ id: MONDO:0958242 name: spermatogenic failure 90 xref: OMIM:620744 {source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="OMIM:620744", source="https://orcid.org/0000-0002-4142-7153"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21099 {source="OMIM:620744"} [Term] id: MONDO:0958256 @@ -558890,12 +557543,14 @@ synonym: "deafness, autosomal recessive 123" NARROW [OMIM:620745] xref: OMIM:620745 {source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="OMIM:620745", source="https://orcid.org/0000-0002-4142-7153"} ! hearing loss, autosomal recessive relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11439 {source="OMIM:620745"} [Term] id: MONDO:0958278 name: neurodevelopmental disorder with hypotonia and characteristic brain abnormalities xref: OMIM:620746 {source="MONDO:equivalentTo"} is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/13811 {source="OMIM:620746"} [Term] id: MONDO:0958279 @@ -558993,12 +557648,14 @@ id: MONDO:0958322 name: intellectual developmental disorder, x-linked, syndromic 37 xref: OMIM:301118 {source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="OMIM:301118"} ! X-linked syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12869 {source="OMIM:301118"} [Term] id: MONDO:0958323 name: neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities xref: OMIM:620747 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620747"} ! Mendelian neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/33782 {source="OMIM:620747"} [Term] id: MONDO:0958324 @@ -559023,6 +557680,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: OMIM:620762 {source="MONDO:equivalentTo"} is_a: MONDO:0020242 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620762"} ! hereditary macular dystrophy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25394 {source="OMIM:620762"} [Term] id: MONDO:0958328 @@ -559031,6 +557689,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: OMIM:620767 {source="MONDO:equivalentTo"} is_a: MONDO:0019342 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620767"} ! Seckel syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29366 {source="OMIM:620767"} [Term] id: MONDO:0958329 @@ -559045,6 +557704,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: OMIM:620772 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:620772"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20566 {source="OMIM:620772"} [Term] id: MONDO:0958331 @@ -559061,6 +557721,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: OMIM:620775 {source="MONDO:equivalentTo"} is_a: MONDO:0100546 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620775"} ! hereditary neuromuscular disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21015 {source="OMIM:620775"} [Term] id: MONDO:0958333 @@ -559077,6 +557738,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: OMIM:620777 {source="MONDO:equivalentTo"} is_a: MONDO:0017148 {source="OMIM:620777", source="https://orcid.org/0000-0002-4142-7153|OMIM:620777"} ! heritable pulmonary arterial hypertension +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1481 {source="OMIM:620777"} [Term] id: MONDO:0958335 @@ -559294,6 +557956,7 @@ subset: rare xref: DOID:0060947 {source="MONDO:equivalentTo"} xref: OMIM:620779 {source="MONDO:equivalentTo"} is_a: MONDO:0019502 {source="DOID:0060947", source="OMIM:620779"} ! autosomal recessive non-syndromic intellectual disability +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23529 {source="OMIM:620779"} [Term] id: MONDO:0968945 @@ -559381,6 +558044,7 @@ id: MONDO:0968976 name: neurodevelopmental disorder with progressive movement abnormalities xref: OMIM:620785 {source="MONDO:equivalentTo"} is_a: MONDO:0700092 {source="OMIM:620785", source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/23339 {source="OMIM:620785"} [Term] id: MONDO:0968977 @@ -559389,18 +558053,21 @@ subset: inferred_rare subset: rare xref: OMIM:620786 {source="MONDO:equivalentTo"} is_a: MONDO:0008947 {source="OMIM:620786", source="https://orcid.org/0000-0002-4142-7153"} ! bilateral striopallidodentate calcinosis +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25875 {source="OMIM:620786"} [Term] id: MONDO:0968978 name: aplasia cutis-enamel dysplasia syndrome xref: OMIM:620789 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="OMIM:620789", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/3798 {source="OMIM:620789"} [Term] id: MONDO:0968979 name: neurodevelopmental disorder with hypotonia and seizures xref: OMIM:620790 {source="MONDO:equivalentTo"} is_a: MONDO:0700092 {source="OMIM:620790", source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20718 {source="OMIM:620790"} [Term] id: MONDO:0968980 @@ -559419,12 +558086,14 @@ synonym: "deafness, autosomal recessive 124" NARROW [OMIM:620794] xref: OMIM:620794 {source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="OMIM:620794", source="https://orcid.org/0000-0002-4142-7153"} ! hearing loss, autosomal recessive relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/20313 {source="OMIM:620794"} [Term] id: MONDO:0968982 name: autoinflammation with episodic fever and immune dysregulation xref: OMIM:620795 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:620795", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/25321 {source="OMIM:620795"} [Term] id: MONDO:0968983 @@ -559433,6 +558102,7 @@ subset: inferred_rare subset: rare xref: OMIM:620796 {source="MONDO:equivalentTo"} is_a: MONDO:0009726 {source="OMIM:620796", source="https://orcid.org/0000-0002-4142-7153"} ! proteosome-associated autoinflammatory syndrome +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9546 {source="OMIM:620796"} [Term] id: MONDO:0968986 @@ -559510,6 +558180,7 @@ id: MONDO:0970943 name: spermatogenic failure, x-linked, 8 xref: OMIM:301119 {source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="OMIM:301119", source="https://orcid.org/0000-0002-4142-7153"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/2582 {source="OMIM:301119"} [Term] id: MONDO:0970944 @@ -559539,12 +558210,14 @@ id: MONDO:0970951 name: El Hayek-Chahrour neurodevelopmental disorder xref: OMIM:620820 {source="MONDO:equivalentTo"} is_a: MONDO:0700092 ! neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9886 {source="OMIM:620820"} [Term] id: MONDO:0970952 name: spermatogenic failure 91 xref: OMIM:620838 {source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="OMIM:620838", source="https://orcid.org/0000-0002-4142-7153"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/1568 {source="OMIM:620838"} [Term] id: MONDO:0970957 @@ -559648,6 +558321,7 @@ id: MONDO:0970993 name: immunodeficiency 119 xref: OMIM:620825 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:620825", source="https://orcid.org/0000-0002-4142-7153"} ! immunodeficiency disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/17087 {source="OMIM:620825"} [Term] id: MONDO:0970994 @@ -559662,24 +558336,28 @@ subset: inferred_rare subset: rare xref: OMIM:620840 {source="MONDO:equivalentTo"} is_a: MONDO:0019852 {source="OMIM:620840", source="https://orcid.org/0000-0002-4142-7153"} ! inherited primary ovarian failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/21537 {source="OMIM:620840"} [Term] id: MONDO:0970998 name: auroneurodental syndrome xref: OMIM:620830 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/30252 {source="OMIM:620830"} [Term] id: MONDO:0970999 name: spermatogenic failure 92 xref: OMIM:620848 {source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="OMIM:620848", source="https://orcid.org/0000-0002-4142-7153"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/19138 {source="OMIM:620848"} [Term] id: MONDO:0971000 name: spermatogenic failure 93 xref: OMIM:620849 {source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="OMIM:620849", source="https://orcid.org/0000-0002-4142-7153"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/14568 {source="OMIM:620849"} [Term] id: MONDO:0971001 @@ -559692,6 +558370,7 @@ id: MONDO:0971002 name: spermatogenic failure 94 xref: OMIM:620850 {source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="OMIM:620850", source="https://orcid.org/0000-0002-4142-7153"} ! spermatogenic failure +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29296 {source="OMIM:620850"} [Term] id: MONDO:0971004 @@ -559721,6 +558400,7 @@ subset: inferred_rare subset: rare xref: OMIM:604571 {source="MONDO:equivalentTo"} is_a: MONDO:0011476 {source="OMIM:604571", source="https://orcid.org/0000-0002-4142-7162"} ! MHC class I deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/43 {source="OMIM:604571"} [Term] id: MONDO:0971007 @@ -559732,6 +558412,7 @@ xref: OMIM:619539 {source="MONDO:equivalentTo"} xref: Orphanet:659904 {source="MONDO:equivalentTo"} is_a: MONDO:0859193 {source="OMIM:619539", source="https://orcid.org/0000-0002-4142-7167"} ! neuroocular syndrome relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/29217 {source="OMIM:619539"} [Term] id: MONDO:0971008 @@ -559750,6 +558431,7 @@ subset: inferred_rare subset: rare xref: OMIM:620658 {source="MONDO:equivalentTo"} is_a: MONDO:0007100 {source="OMIM:620658", source="https://orcid.org/0000-0002-4142-7156"} ! familial amyloid neuropathy +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/6740 {source="OMIM:620658"} [Term] id: MONDO:0971010 @@ -559766,6 +558448,7 @@ subset: inferred_rare subset: rare xref: OMIM:620813 {source="MONDO:equivalentTo"} is_a: MONDO:0011476 {source="OMIM:620813", source="https://orcid.org/0000-0002-4142-7163"} ! MHC class I deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/44 {source="OMIM:620813"} [Term] id: MONDO:0971012 @@ -559774,6 +558457,7 @@ subset: inferred_rare subset: rare xref: OMIM:620814 {source="MONDO:equivalentTo"} is_a: MONDO:0011476 {source="OMIM:620814", source="https://orcid.org/0000-0002-4142-7164"} ! MHC class I deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/11566 {source="OMIM:620814"} [Term] id: MONDO:0971013 @@ -559784,6 +558468,7 @@ xref: MEDGEN:347904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620815 {source="MONDO:equivalentTo"} xref: UMLS:C1859535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347904"} is_a: MONDO:0008855 {source="OMIM:620815", source="https://orcid.org/0000-0002-4142-7158"} ! MHC class II deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9987 {source="OMIM:620815"} [Term] id: MONDO:0971014 @@ -559804,6 +558489,7 @@ xref: MEDGEN:347176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620817 {source="MONDO:equivalentTo"} xref: UMLS:C1859537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347176"} is_a: MONDO:0008855 {source="OMIM:620817", source="https://orcid.org/0000-0002-4142-7160"} ! MHC class II deficiency +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9988 {source="OMIM:620817"} [Term] id: MONDO:0971016 @@ -559820,6 +558506,7 @@ id: MONDO:0971043 name: neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities xref: OMIM:620852 {source="MONDO:equivalentTo"} is_a: MONDO:0100500 {source="https://orcid.org/0000-0002-4142-7153"} ! Mendelian neurodevelopmental disorder +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/12739 {source="OMIM:620852"} [Term] id: MONDO:0971044 @@ -562352,7 +561039,6 @@ def: "Hereditary increased feed intake leading to fatty liver in pigs due to a v xref: OMIA:002217-9823 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002217-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011429 {source="OMIA:002217-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hepatic lipidosis, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/397359 {source="OMIA:002217-9823", source="https://orcid.org/0000-0002-5002-8648"} ! MC4R relationship: in_taxon NCBITaxon:9823 {source="OMIA:002217-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -563610,7 +562296,6 @@ xref: OMIA:002195-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1010448 {source="OMIA:002195-9615", source="https://orcid.org/0000-0002-5002-8648"} ! dilated cardiomyopathy, dog is_a: MONDO:1011321 {source="OMIA:002195-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/414755 {source="OMIA:002195-9615", source="https://orcid.org/0000-0002-5002-8648"} ! PLN relationship: in_taxon NCBITaxon:9615 {source="OMIA:002195-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -563621,7 +562306,6 @@ def: "Any hypertrophic cardiomyopathy in golden hamsters in which the cause of t xref: OMIA:002211-10036 {source="MONDO:equivalentTo"} is_a: MONDO:1010015 {source="OMIA:002211-10036", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrophic cardiomyopathy, non-human animal is_a: MONDO:1011321 {source="OMIA:002211-10036", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101837953 {source="OMIA:002211-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Sgcd relationship: in_taxon NCBITaxon:10036 {source="OMIA:002211-10036"} ! Mesocricetus auratus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -563633,7 +562317,6 @@ xref: OMIA:002211-9823 {source="MONDO:equivalentTo"} is_a: MONDO:1010460 {source="OMIA:002211-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrophic cardiomyopathy, pig is_a: MONDO:1011321 {source="OMIA:002211-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100240724 {source="OMIA:002211-9823", source="https://orcid.org/0000-0002-5002-8648"} ! SGCD relationship: in_taxon NCBITaxon:9823 {source="OMIA:002211-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -564898,7 +563581,6 @@ def: "Any congenital hypothyroidism in dogs in which the cause of the disease is xref: OMIA:002174-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1010602 {source="OMIA:002174-9615", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypothyroidism, dog is_a: MONDO:1011321 {source="OMIA:002174-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/484830 {source="OMIA:002174-9615", source="https://orcid.org/0000-0002-5002-8648"} ! SLC5A5 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002174-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -564909,7 +563591,6 @@ def: "Any congenital hypothyroidism in pigs in which the cause of the disease is xref: OMIA:002210-9823 {source="MONDO:equivalentTo"} is_a: MONDO:1010057 {source="OMIA:002210-9823", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypothyroidism, non-human animal is_a: MONDO:1011321 {source="OMIA:002210-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/397060 {source="OMIA:002210-9823", source="https://orcid.org/0000-0002-5002-8648"} ! DUOX2 relationship: in_taxon NCBITaxon:9823 {source="OMIA:002210-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -565514,7 +564195,6 @@ def: "Hereditary thrombopathia associated with a defect in the ADP receptor P2Y1 xref: OMIA:001564-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001564-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011695 {source="OMIA:001564-9615", source="https://orcid.org/0000-0002-5002-8648"} ! thrombopathia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/442958 {source="OMIA:001564-9615", source="https://orcid.org/0000-0002-5002-8648"} ! P2RY12 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001564-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -565551,7 +564231,6 @@ def: "Any methemoglobinemia in dogs in which the cause of the disease is a mutat xref: OMIA:002131-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002131-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011412 {source="OMIA:002131-9615", source="https://orcid.org/0000-0002-5002-8648"} ! methemoglobinemia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/474479 {source="OMIA:002131-9615", source="https://orcid.org/0000-0002-5002-8648"} ! CYB5R3 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002131-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -565563,7 +564242,6 @@ xref: OMIA:002131-9685 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002131-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011559 {source="OMIA:002131-9685", source="https://orcid.org/0000-0002-5002-8648"} ! methemoglobinemia, domestic cat relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101091382 {source="OMIA:002131-9685", source="https://orcid.org/0000-0002-5002-8648"} ! CYB5R3 relationship: in_taxon NCBITaxon:9685 {source="OMIA:002131-9685"} ! Felis catus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -565575,7 +564253,6 @@ xref: OMIA:002433-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002433-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012273 {source="OMIA:002433-9615", source="https://orcid.org/0000-0002-5002-8648"} ! thrombopathia, dog relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/612101 {source="OMIA:002433-9615", source="https://orcid.org/0000-0002-5002-8648"} ! RASGRP2 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002433-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -565586,7 +564263,6 @@ def: "Any thrombopathia in cattle in which the cause of the disease is a mutatio xref: OMIA:002433-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002433-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011695 {source="OMIA:002433-9913", source="https://orcid.org/0000-0002-5002-8648"} ! thrombopathia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/512056 {source="OMIA:002433-9913", source="https://orcid.org/0000-0002-5002-8648"} ! RASGRP2 relationship: in_taxon NCBITaxon:9913 {source="OMIA:002433-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -565866,7 +564542,6 @@ def: "Hereditary progressive neurological disease, resulting in death within a f xref: OMIA:000627-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:000627-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011331 {source="OMIA:000627-9913", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/282149 {source="OMIA:000627-9913", source="https://orcid.org/0000-0002-5002-8648"} ! BCKDHA relationship: in_taxon NCBITaxon:9913 {source="OMIA:000627-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566115,7 +564790,6 @@ def: "Any severe combined immunodeficiency disease in golden hamsters in which t xref: OMIA:000899-10036 {source="MONDO:equivalentTo"} is_a: MONDO:1011422 {source="OMIA:000899-10036", source="https://orcid.org/0000-0002-5002-8648"} ! severe combined immunodeficiency disease, non-human animal is_a: MONDO:1012575 {source="OMIA:000899-10036", source="https://orcid.org/0000-0002-5002-8648"} ! X-linked disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101824015 {source="OMIA:000899-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Il2rg relationship: in_taxon NCBITaxon:10036 {source="OMIA:000899-10036"} ! Mesocricetus auratus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566126,7 +564800,6 @@ def: "Any severe combined immunodeficiency disease in dogs in which the cause of xref: OMIA:000899-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011596 {source="OMIA:000899-9615", source="https://orcid.org/0000-0002-5002-8648"} ! severe combined immunodeficiency disease, dog is_a: MONDO:1012575 {source="OMIA:000899-9615", source="https://orcid.org/0000-0002-5002-8648"} ! X-linked disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/403851 {source="OMIA:000899-9615", source="https://orcid.org/0000-0002-5002-8648"} ! IL2RG relationship: in_taxon NCBITaxon:9615 {source="OMIA:000899-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566137,7 +564810,6 @@ def: "Any severe combined immunodeficiency disease in pigs in which the cause of xref: OMIA:000899-9823 {source="MONDO:equivalentTo"} is_a: MONDO:1011422 {source="OMIA:000899-9823", source="https://orcid.org/0000-0002-5002-8648"} ! severe combined immunodeficiency disease, non-human animal is_a: MONDO:1012575 {source="OMIA:000899-9823", source="https://orcid.org/0000-0002-5002-8648"} ! X-linked disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/397156 {source="OMIA:000899-9823", source="https://orcid.org/0000-0002-5002-8648"} ! IL2RG relationship: in_taxon NCBITaxon:9823 {source="OMIA:000899-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566199,7 +564871,6 @@ synonym: "T-B-NK+ SCID" EXACT ABBREVIATION [OMIA:001574-9615] xref: OMIA:001574-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001574-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011596 {source="OMIA:001574-9615", source="https://orcid.org/0000-0002-5002-8648"} ! severe combined immunodeficiency disease, dog -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/483420 {source="OMIA:001574-9615", source="https://orcid.org/0000-0002-5002-8648"} ! RAG1 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001574-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566246,7 +564917,6 @@ def: "Hereditary severe ulcerative dermatitis, growth restriction and increased xref: OMIA:002271-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002271-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011724 {source="OMIA:002271-9913", source="https://orcid.org/0000-0002-5002-8648"} ! immunodeficiency disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/525040 {source="OMIA:002271-9913", source="https://orcid.org/0000-0002-5002-8648"} ! IL17RA relationship: in_taxon NCBITaxon:9913 {source="OMIA:002271-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566295,7 +564965,6 @@ synonym: "dEDS" EXACT ABBREVIATION [OMIA:000328-9615] xref: OMIA:000328-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:000328-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011493 {source="OMIA:000328-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, dog -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/481453 {source="OMIA:000328-9615", source="https://orcid.org/0000-0002-5002-8648"} ! ADAMTS2 relationship: in_taxon NCBITaxon:9615 {source="OMIA:000328-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566307,7 +564976,6 @@ synonym: "dEDS" EXACT ABBREVIATION [OMIA:000328-9685] xref: OMIA:000328-9685 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:000328-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011494 {source="OMIA:000328-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, domestic cat -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101096945 {source="OMIA:000328-9685", source="https://orcid.org/0000-0002-5002-8648"} ! ADAMTS2 relationship: in_taxon NCBITaxon:9685 {source="OMIA:000328-9685"} ! Felis catus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566319,7 +564987,6 @@ synonym: "dEDS" EXACT ABBREVIATION [OMIA:000328-9913] xref: OMIA:000328-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:000328-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011425 {source="OMIA:000328-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/282401 {source="OMIA:000328-9913", source="https://orcid.org/0000-0002-5002-8648"} ! ADAMTS2 relationship: in_taxon NCBITaxon:9913 {source="OMIA:000328-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566332,7 +564999,6 @@ xref: OMIA:000328-9940 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:000328-9940", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011497 {source="OMIA:000328-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, sheep relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101120574 {source="OMIA:000328-9940", source="https://orcid.org/0000-0002-5002-8648"} ! ADAMTS2 relationship: in_taxon NCBITaxon:9940 {source="OMIA:000328-9940"} ! Ovis aries property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566391,7 +565057,6 @@ def: "Hereditary sparse hair and dental aplasia in dogs associated with a variat xref: OMIA:000543-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012575 {source="OMIA:000543-9615", source="https://orcid.org/0000-0002-5002-8648"} ! X-linked disease, non-human animal is_a: MONDO:1012576 {source="OMIA:000543-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hypohidrotic ectodermal dysplasia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/491935 {source="OMIA:000543-9615", source="https://orcid.org/0000-0002-5002-8648"} ! EDA relationship: in_taxon NCBITaxon:9615 {source="OMIA:000543-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566402,7 +565067,6 @@ def: "Hereditary sparse hair and dental aplasia in cattle associated with a vari xref: OMIA:000543-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1012575 {source="OMIA:000543-9913", source="https://orcid.org/0000-0002-5002-8648"} ! X-linked disease, non-human animal is_a: MONDO:1012576 {source="OMIA:000543-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hypohidrotic ectodermal dysplasia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/616179 {source="OMIA:000543-9913", source="https://orcid.org/0000-0002-5002-8648"} ! EDA relationship: in_taxon NCBITaxon:9913 {source="OMIA:000543-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566413,7 +565077,6 @@ def: "Hereditary severe hyperkeratosis in dogs due to a variation in the TGM1 ge xref: OMIA:000546-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:000546-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011328 {source="OMIA:000546-9615", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/403630 {source="OMIA:000546-9615", source="https://orcid.org/0000-0002-5002-8648"} ! TGM1 relationship: in_taxon NCBITaxon:9615 {source="OMIA:000546-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566777,7 +565440,6 @@ def: "Hereditary generalized severe hyperkeratosis with a formation of a strongl xref: OMIA:001973-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001973-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011328 {source="OMIA:001973-9615", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/491317 {source="OMIA:001973-9615", source="https://orcid.org/0000-0002-5002-8648"} ! SLC27A4 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001973-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566788,7 +565450,6 @@ def: "Hereditary hyperkeratosis characterized by generalized scaling in dogs due xref: OMIA:001980-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001980-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011328 {source="OMIA:001980-9615", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/489157 {source="OMIA:001980-9615", source="https://orcid.org/0000-0002-5002-8648"} ! NIPAL4 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001980-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566802,7 +565463,6 @@ xref: OMIA:001982-9796 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001982-9796", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011495 {source="OMIA:001982-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, horse relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100050902 {source="OMIA:001982-9796", source="https://orcid.org/0000-0002-5002-8648"} ! PLOD1 relationship: in_taxon NCBITaxon:9796 {source="OMIA:001982-9796"} ! Equus caballus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566839,7 +565499,6 @@ def: "An inherited syndrome characterized by hypotrichosis (sparseness of hair), xref: OMIA:002128-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002128-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011328 {source="OMIA:002128-9913", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/613947 {source="OMIA:002128-9913", source="https://orcid.org/0000-0002-5002-8648"} ! EDAR relationship: in_taxon NCBITaxon:9913 {source="OMIA:002128-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566851,7 +565510,6 @@ synonym: "cEDS" EXACT ABBREVIATION [OMIA:002165-9615] xref: OMIA:002165-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002165-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011493 {source="OMIA:002165-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, dog -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/480684 {source="OMIA:002165-9615", source="https://orcid.org/0000-0002-5002-8648"} ! COL5A1 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002165-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566863,7 +565521,6 @@ synonym: "cEDS" EXACT ABBREVIATION [OMIA:002165-9685] xref: OMIA:002165-9685 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002165-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011494 {source="OMIA:002165-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, domestic cat -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101082193 {source="OMIA:002165-9685", source="https://orcid.org/0000-0002-5002-8648"} ! COL5A1 relationship: in_taxon NCBITaxon:9685 {source="OMIA:002165-9685"} ! Felis catus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566875,7 +565532,6 @@ synonym: "clEDS" EXACT ABBREVIATION [OMIA:002203-9615] xref: OMIA:002203-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002203-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011493 {source="OMIA:002203-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, dog -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100682877 {source="OMIA:002203-9615", source="https://orcid.org/0000-0002-5002-8648"} ! TNXB relationship: in_taxon NCBITaxon:9615 {source="OMIA:002203-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566900,7 +565556,6 @@ synonym: "cEDS" EXACT ABBREVIATION [OMIA:002295-9615] xref: OMIA:002295-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002295-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011493 {source="OMIA:002295-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, dog -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/478836 {source="OMIA:002295-9615", source="https://orcid.org/0000-0002-5002-8648"} ! COL5A2 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002295-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -566912,7 +565567,6 @@ synonym: "cEDS" EXACT ABBREVIATION [OMIA:002295-9913] xref: OMIA:002295-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002295-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011425 {source="OMIA:002295-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/538590 {source="OMIA:002295-9913", source="https://orcid.org/0000-0002-5002-8648"} ! COL5A2 relationship: in_taxon NCBITaxon:9913 {source="OMIA:002295-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -567385,7 +566039,6 @@ def: "Excess accumulation of copper in the liver with a centrilobular distributi xref: OMIA:001988-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011311 {source="OMIA:001988-9615", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal is_a: MONDO:1011321 {source="OMIA:001988-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/403590 {source="OMIA:001988-9615", source="https://orcid.org/0000-0002-5002-8648"} ! COMMD1 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001988-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -567751,7 +566404,6 @@ synonym: "double muscling" EXACT [OMIA:000683-9913] xref: OMIA:000683-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:000683-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011335 {source="OMIA:000683-9913", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/281187 {source="OMIA:000683-9913", source="https://orcid.org/0000-0002-5002-8648"} ! MSTN relationship: in_taxon NCBITaxon:9913 {source="OMIA:000683-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -567957,7 +566609,6 @@ def: "An early onset syndrome of impaired neuromuscular transmission associated xref: OMIA:001928-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001928-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011851 {source="OMIA:001928-9615", source="https://orcid.org/0000-0002-5002-8648"} ! congenital neuromuscular disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/608697 {source="OMIA:001928-9615", source="https://orcid.org/0000-0002-5002-8648"} ! LOC608697 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001928-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -567968,7 +566619,6 @@ def: "Hereditary weakness, stiffness, trembling in cattle in which the cause of xref: OMIA:001978-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001978-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011335 {source="OMIA:001978-9913", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/510763 {source="OMIA:001978-9913", source="https://orcid.org/0000-0002-5002-8648"} ! MYBPC1 relationship: in_taxon NCBITaxon:9913 {source="OMIA:001978-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -567979,7 +566629,6 @@ def: "Hereditary generalized muscle atrophy characterized by the histological pr xref: OMIA:002137-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002137-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011335 {source="OMIA:002137-9615", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/476149 {source="OMIA:002137-9615", source="https://orcid.org/0000-0002-5002-8648"} ! LOC476149 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002137-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -568204,7 +566853,6 @@ def: "Hereditary nonpolyposis colonic adenocarcinoma in Rhesus monkey due to a v xref: OMIA:002145-9544 {source="MONDO:equivalentTo"} is_a: MONDO:0700099 {source="OMIA:002145-9544", source="https://orcid.org/0000-0002-5002-8648"} ! adenocarcinoma, non-human animal is_a: MONDO:1011321 {source="OMIA:002145-9544", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/698782 {source="OMIA:002145-9544", source="https://orcid.org/0000-0002-5002-8648"} ! MLH1 relationship: in_taxon NCBITaxon:9544 {source="OMIA:002145-9544"} ! Macaca mulatta property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -568971,7 +567619,6 @@ def: "Hereditary late onset progressive symmetric ataxia, truncal sway, pelvic l xref: OMIA:001820-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011308 {source="OMIA:001820-9615", source="https://orcid.org/0000-0002-5002-8648"} ! congenital nervous system disorder, non-human animal is_a: MONDO:1011321 {source="OMIA:001820-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/483745 {source="OMIA:001820-9615", source="https://orcid.org/0000-0002-5002-8648"} ! CAPN1 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001820-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -569006,7 +567653,6 @@ def: "Hereditary neurodegenerative disease affecting peripheral sensory and auto xref: OMIA:002032-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011007 {source="OMIA:002032-9615", source="https://orcid.org/0000-0002-5002-8648"} ! peripheral neuropathy, dog is_a: MONDO:1011321 {source="OMIA:002032-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/479382 {source="OMIA:002032-9615", source="https://orcid.org/0000-0002-5002-8648"} ! RETREG1 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002032-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -569030,7 +567676,6 @@ def: "An early onset syndrome of impaired neuromuscular transmission associated xref: OMIA:002072-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002072-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011851 {source="OMIA:002072-9615", source="https://orcid.org/0000-0002-5002-8648"} ! congenital neuromuscular disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/486775 {source="OMIA:002072-9615", source="https://orcid.org/0000-0002-5002-8648"} ! CHAT relationship: in_taxon NCBITaxon:9615 {source="OMIA:002072-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -569054,7 +567699,6 @@ def: "Congenital insensitivity to pain (CIP) in dogs due to a variation in the S xref: OMIA:002616-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002616-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011336 {source="OMIA:002616-9615", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/488381 {source="OMIA:002616-9615", source="https://orcid.org/0000-0002-5002-8648"} relationship: in_taxon NCBITaxon:9615 {source="OMIA:002616-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -569065,7 +567709,6 @@ def: "Hereditary predisposition to color dilution alopecia in dogs due to a vari xref: OMIA:000031-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:000031-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011328 {source="OMIA:000031-9615", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/607077 {source="OMIA:000031-9615", source="https://orcid.org/0000-0002-5002-8648"} ! MLPH relationship: in_taxon NCBITaxon:9615 {source="OMIA:000031-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -569076,7 +567719,6 @@ def: "Hereditary lack of melanin pigmentation in Mexican tetra due to a variatio xref: OMIA:002130-7994 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002130-7994", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012579 {source="OMIA:002130-7994", source="https://orcid.org/0000-0002-5002-8648"} ! oculocutaneous albinism, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/103023169 {source="OMIA:002130-7994", source="https://orcid.org/0000-0002-5002-8648"} ! oca2 relationship: in_taxon NCBITaxon:7994 {source="OMIA:002130-7994"} ! Astyanax mexicanus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -569087,7 +567729,6 @@ def: "Hereditary lightly pigmented coat, lips and nose and blue eyes in dogs due xref: OMIA:002130-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002130-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012579 {source="OMIA:002130-9615", source="https://orcid.org/0000-0002-5002-8648"} ! oculocutaneous albinism, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/488683 {source="OMIA:002130-9615", source="https://orcid.org/0000-0002-5002-8648"} ! OCA2 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002130-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -569786,7 +568427,6 @@ xref: OMIA:002618-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002618-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012186 {source="OMIA:002618-9615", source="https://orcid.org/0000-0002-5002-8648"} ! nephropathy, dog relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/403841 {source="OMIA:002618-9615", source="https://orcid.org/0000-0002-5002-8648"} ! COL4A4 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002618-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -570051,7 +568691,6 @@ def: "Delayed or abolished puberty in male pigs due to a variation in the KISS1 xref: OMIA:002619-9823 {source="MONDO:equivalentTo"} is_a: MONDO:1010276 {source="OMIA:002619-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hypogonadism, non-human animal is_a: MONDO:1011321 {source="OMIA:002619-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100145896 {source="OMIA:002619-9823", source="https://orcid.org/0000-0002-5002-8648"} ! KISS1 relationship: in_taxon NCBITaxon:9823 {source="OMIA:002619-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -570148,7 +568787,6 @@ xref: OMIA:001540-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001540-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012138 {source="OMIA:001540-9615", source="https://orcid.org/0000-0002-5002-8648"} ! primary ciliary dyskinesia, dog relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/488089 {source="OMIA:001540-9615", source="https://orcid.org/0000-0002-5002-8648"} ! CCDC39 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001540-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -570825,7 +569463,6 @@ xref: OMIA:001483-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001483-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011581 {source="OMIA:001483-9615", source="https://orcid.org/0000-0002-5002-8648"} ! osteogenesis imperfecta, dog relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/485187 {source="OMIA:001483-9615", source="https://orcid.org/0000-0002-5002-8648"} ! SERPINH1 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001483-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -570836,7 +569473,6 @@ def: "Hereditary chondrodysplasia in cattle associated with a variation in the F xref: OMIA:001703-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1010306 {source="OMIA:001703-9913", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrodysplasia, non-human animal is_a: MONDO:1011321 {source="OMIA:001703-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/281769 {source="OMIA:001703-9913", source="https://orcid.org/0000-0002-5002-8648"} ! FGFR3 relationship: in_taxon NCBITaxon:9913 {source="OMIA:001703-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -570849,7 +569485,6 @@ synonym: "spider lamb syndrome" EXACT [PMID:16441300] xref: OMIA:001703-9940 {source="MONDO:equivalentTo"} is_a: MONDO:1010306 {source="OMIA:001703-9940", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrodysplasia, non-human animal is_a: MONDO:1011321 {source="OMIA:001703-9940", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/554324 {source="OMIA:001703-9940", source="https://orcid.org/0000-0002-5002-8648"} ! FGFR3 relationship: in_taxon NCBITaxon:9940 {source="OMIA:001703-9940"} ! Ovis aries property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -570873,7 +569508,6 @@ def: "An inherited disorder affecting the structure, composition, and quantity o xref: OMIA:001805-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001805-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011333 {source="OMIA:001805-9615", source="https://orcid.org/0000-0002-5002-8648"} ! mouth disorder, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/482186 {source="OMIA:001805-9615", source="https://orcid.org/0000-0002-5002-8648"} ! ENAM relationship: in_taxon NCBITaxon:9615 {source="OMIA:001805-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -570960,7 +569594,6 @@ def: "An inherited disorder affecting the structure, composition, and quantity o xref: OMIA:002177-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002177-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011333 {source="OMIA:002177-9615", source="https://orcid.org/0000-0002-5002-8648"} ! mouth disorder, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/484357 {source="OMIA:002177-9615", source="https://orcid.org/0000-0002-5002-8648"} ! ACP4 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002177-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -571505,7 +570138,6 @@ def: "Non-progressive vision impairment in dim or absent lighting in horses due xref: OMIA:001341-9796 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001341-9796", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011975 {source="OMIA:001341-9796", source="https://orcid.org/0000-0002-5002-8648"} ! congenital blindness, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100059740 {source="OMIA:001341-9796", source="https://orcid.org/0000-0002-5002-8648"} ! TRPM1 relationship: in_taxon NCBITaxon:9796 {source="OMIA:001341-9796"} ! Equus caballus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -571541,7 +570173,6 @@ def: "Non-progressive vision impairment in dim or absent lighting in dogs due to xref: OMIA:001486-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001486-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011975 {source="OMIA:001486-9615", source="https://orcid.org/0000-0002-5002-8648"} ! congenital blindness, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/610534 {source="OMIA:001486-9615", source="https://orcid.org/0000-0002-5002-8648"} ! LRIT3 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001486-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -571565,7 +570196,6 @@ def: "Hereditary progressive, bilateral lens opacity affecting dogs within the f xref: OMIA:001758-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001758-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011367 {source="OMIA:001758-9615", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/489766 {source="OMIA:001758-9615", source="https://orcid.org/0000-0002-5002-8648"} ! HSF4 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001758-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -571603,7 +570233,6 @@ xref: OMIA:001984-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001984-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012226 {source="OMIA:001984-9615", source="https://orcid.org/0000-0002-5002-8648"} ! progressive retinal atrophy, dog relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/480413 {source="OMIA:001984-9615", source="https://orcid.org/0000-0002-5002-8648"} ! TTC8 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001984-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -571654,7 +570283,6 @@ xref: OMIA:002469-9685 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002469-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012240 {source="OMIA:002469-9685", source="https://orcid.org/0000-0002-5002-8648"} ! central retinal degeneration, domestic cat relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101090450 {source="OMIA:002469-9685", source="https://orcid.org/0000-0002-5002-8648"} ! RDH5 relationship: in_taxon NCBITaxon:9685 {source="OMIA:002469-9685"} ! Felis catus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -582794,7 +581422,6 @@ def: "Any neurocristopathy in cattle in which the cause of the disease is a muta xref: OMIA:002125-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002125-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011337 {source="OMIA:002125-9913", source="https://orcid.org/0000-0002-5002-8648"} ! neurocristopathy, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/533175 {source="OMIA:002125-9913", source="https://orcid.org/0000-0002-5002-8648"} ! CHD7 relationship: in_taxon NCBITaxon:9913 {source="OMIA:002125-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -583061,7 +581688,6 @@ subset: inferred_rare subset: rare is_a: MONDO:0000508 {source="PMID:32656949", source="PMID:32788638", source="PMID:33991169", source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/400063/"} ! syndromic intellectual disability is_a: MONDO:0019516 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/400063/"} ! exudative vitreoretinopathy -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 {source="PMID:32656949", source="PMID:32788638", source="PMID:33991169", source="https://orcid.org/0000-0002-0587-4693"} ! DYNC1H1 property_value: http://purl.org/dc/elements/1.1/date "2024-07-01T21:00:19Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7652" xsd:anyURI @@ -583203,7 +581829,6 @@ xref: UMLS:C5542296 {source="MEDGEN:1778124", source="MONDO:equivalentTo", sourc is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0023880 {source="OMIM:193670"} ! WHIM syndrome relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2561 {source="MONDO:mim2gene_medgen", source="OMIM:193670"} ! CXCR4 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9297/whim-syndrome" xsd:anyURI {source="GARD:0009297"} @@ -583236,7 +581861,6 @@ is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotr is_a: MONDO:0023910 {source="OMIM:212720"} ! Martsolf syndrome relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1387", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17168 {source="MONDO:mim2gene_medgen"} ! RAB3GAP2 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -583328,7 +581952,7 @@ relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:456312", sourc relationship: excluded_subClassOf MONDO:0015361 {source="Orphanet:456312", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy relationship: excluded_subClassOf MONDO:0015778 {source="Orphanet:456312", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic hypothyroidism relationship: excluded_subClassOf MONDO:0019589 {source="Orphanet:456312", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic hearing loss -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24265 {source="MONDO:mim2gene_medgen"} ! PTRH2 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/24265 {source="OMIM:616263"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -583342,7 +581966,6 @@ xref: OMIM:617068 {source="MONDO:equivalentTo"} is_a: MONDO:0024193 {source="OMIM:617068"} ! portal hypertension, noncirrhotic relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2858 {source="MONDO:mim2gene_medgen", source="OMIM:617068"} ! DGUOK [Term] id: MONDO:8000014 @@ -583477,7 +582100,8 @@ xref: OMIM:615559 {source="DOID:0110119", source="MONDO:equivalentTo"} xref: UMLS:C3809928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816258"} is_a: MONDO:0017979 {source="DOID:0110119", source="OMIM:615559"} ! autoimmune lymphoproliferative syndrome intersection_of: MONDO:0017979 ! autoimmune lymphoproliferative syndrome -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9399 ! PRKCD +intersection_of: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9399 +relationship: has_material_basis_in_germline_mutation_in https://identifiers.org/hgnc/9399 {source="OMIM:615559"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4098" xsd:anyURI [Term] diff --git a/src/ontology/mondo.Makefile b/src/ontology/mondo.Makefile index 627f7594f5..6142aabd7f 100644 --- a/src/ontology/mondo.Makefile +++ b/src/ontology/mondo.Makefile @@ -409,6 +409,22 @@ update-rare-subset: ##### Mondo External Content Pipeline ################ ###################################################### +#################################### +##### OMIM ##################### +#################################### + +.PHONY: update-omim-genes +update-omim-genes: + $(MAKE) $(TMPDIR)/external/processed-mondo-omim-genes.robot.owl -B + # We need to be less aggressive here, as some gene relations were not originally sourced + # from OMIM, and were added, for example, for ClinGen. + grep -vE '^(relationship: has_material_basis_in_germline_mutation_in .*source="OMIM:)' $(SRC) > $(TMPDIR)/mondo-edit.tmp || true + mv $(TMPDIR)/mondo-edit.tmp $(SRC) + $(ROBOT) merge -i $(SRC) -i $(TMPDIR)/external/processed-mondo-omim-genes.robot.owl --collapse-import-closure false \ + query --update ../sparql/update/omim-gene-equivalence.ru \ + convert -f obo --check false -o $(SRC).obo + mv $(SRC).obo $(SRC) && make NORM && mv NORM $(SRC) + #################################### ##### Orphanet ##################### #################################### diff --git a/src/sparql/update/omim-gene-equivalence.ru b/src/sparql/update/omim-gene-equivalence.ru new file mode 100644 index 0000000000..6629932b0d --- /dev/null +++ b/src/sparql/update/omim-gene-equivalence.ru @@ -0,0 +1,30 @@ +PREFIX owl: +PREFIX rdf: +PREFIX rdfs: +PREFIX oboInOwl: +PREFIX identifiers: + +DELETE { + ?restriction owl:someValuesFrom ?oldSymbol . +} +INSERT { + ?restriction owl:someValuesFrom ?newSymbol . +} +WHERE { + # Match the class and restriction + ?class rdf:type owl:Class ; + owl:equivalentClass ?equivClass ; + rdfs:subClassOf ?subClassRestriction . + + # Match the subclass restriction and get the HGNC symbol + ?subClassRestriction rdf:type owl:Restriction ; + owl:onProperty ; + owl:someValuesFrom ?newSymbol . + + # Match the equivalent class restriction and old symbol + ?equivClass owl:intersectionOf ?intersection . + ?intersection rdf:rest*/rdf:first ?restriction . + ?restriction owl:onProperty ; owl:someValuesFrom ?oldSymbol . + + FILTER(?newSymbol != ?oldSymbol) +}