diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index d4b4fd84d1..724fd83527 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -138269,38 +138269,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007607 -name: Birt-Hogg-Dube syndrome -def: "Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977." [Orphanet:122] -comment: This will be obsoleted in the 2023-10-01 release. The term will be split and the new ID for this term will be MONDO:0800444 (Birt-Hogg-Dube syndrome), and MONDO:0800445 (Birt-Hogg-Dube syndrome 1). -subset: obsoletion_candidate -subset: ordo_malformation_syndrome {source="Orphanet:122"} -synonym: "BHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135150] -synonym: "BHD syndrome" RELATED [GARD:0002322] -synonym: "Birt Hogg Dube syndrome" RELATED [GARD:0002322] -synonym: "Birt-Hogg-Dube syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, NCIT:C28244, OMIM:135150] -synonym: "Birt-Hogg-Dubé syndrome" RELATED [Orphanet:122] -synonym: "fibrofolliculomas with trichodiscomas and acrochordons" EXACT [OMIM:135150, Orphanet:122] -synonym: "Hornstein-Knickenberg syndrome" RELATED [OMIM:135150] -xref: DOID:0050676 {source="MONDO:equivalentTo"} -xref: EFO:1001273 {source="MONDO:equivalentTo"} -xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} -xref: MedDRA:10067736 {source="Orphanet:122/e", source="Orphanet:122"} -xref: MESH:D058249 {source="Orphanet:122/e", source="MONDO:equivalentTo", source="Orphanet:122"} -xref: NCIT:C28244 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} -xref: OMIM:135150 {source="Orphanet:122/e", source="DOID:0050676", source="MONDO:equivalentTo", source="Orphanet:122"} -xref: Orphanet:122 {source="OMIM:135150", source="MONDO:equivalentTo"} -xref: SCTID:110985001 {source="MONDO:equivalentTo"} -xref: UMLS:C0346010 {source="OMIM:135150", source="Orphanet:122/e", source="NCIT:C28244", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:122"} -is_a: MONDO:0000426 {source="DOID:0050676", source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease -is_a: MONDO:0015356 {source="MESH:D058249", source="MONDO:Redundant", source="NCIT:C28244", source="Orphanet:122/inferred"} ! hereditary neoplastic syndrome -relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:122"} ! obsolete rare skin tumor or hamartoma -relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:135150", source="Orphanet:122"} ! Autosomal dominant inheritance -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27310 {source="MONDO:mim2gene_medgen"} ! FLCN -property_value: confidence "4.7142857142857135" xsd:double +name: obsolete Birt-Hogg-Dube syndrome +property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6518" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI -property_value: IAO:0006012 "2023-10-01" xsd:string +is_obsolete: true +consider: MONDO:0800444 +consider: MONDO:0800445 [Term] id: MONDO:0007608 @@ -460918,6 +460893,39 @@ is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/"} ! c 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] +id: MONDO:0800444 +name: Birt-Hogg-Dube syndrome +synonym: "BHD" EXACT ABBREVIATION [OMIMPS:135150] +xref: OMIMPS:135150 {source="MONDO:equivalentTo"} +is_a: MONDO:0000426 {source="OMIMPS:135150"} ! autosomal dominant disease +is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +relationship: has_characteristic MONDO:0021152 {source="OMIMPS:135150"} ! inherited +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6518" xsd:anyURI + +[Term] +id: MONDO:0800445 +name: Birt-Hogg-Dube syndrome 1 +def: "Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene." [MONDO:patterns/disease_series_by_gene] +subset: ordo_malformation_syndrome {source="Orphanet:122"} +synonym: "fibrofolliculomas with trichodiscomas and acrochordons" EXACT [OMIM:135150, Orphanet:122] +synonym: "Hornstein-Knickenberg syndrome" EXACT [OMIM:135150] +xref: DOID:0050676 {source="MONDO:equivalentTo"} +xref: EFO:1001273 {source="MONDO:equivalentTo"} +xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} +xref: MedDRA:10067736 {source="Orphanet:122/e", source="Orphanet:122"} +xref: MESH:D058249 {source="Orphanet:122/e", source="MONDO:equivalentTo", source="Orphanet:122"} +xref: NCIT:C28244 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} +xref: OMIM:135150 {source="Orphanet:122/e", source="DOID:0050676", source="MONDO:equivalentTo", source="Orphanet:122"} +xref: Orphanet:122 {source="OMIM:135150", source="MONDO:equivalentTo"} +xref: SCTID:110985001 {source="MONDO:equivalentTo"} +xref: UMLS:C0346010 {source="OMIM:135150", source="Orphanet:122/e", source="NCIT:C28244", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:122"} +is_a: MONDO:0800444 {source="OMIM:135150"} ! Birt-Hogg-Dube syndrome +intersection_of: MONDO:0800444 ! Birt-Hogg-Dube syndrome +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27310 ! FLCN +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6518" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI + [Term] id: MONDO:0800446 name: bleeding diathesis due to thromboxane synthesis deficiency @@ -461010,6 +461018,16 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar relationship: has_characteristic MONDO:0021152 {source="OMIMPS:616033"} ! inherited property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6777" xsd:anyURI +[Term] +id: MONDO:0800455 +name: Birt-Hogg-Dube syndrome 2 +def: "Birt-Hogg-Dube syndrome caused by the mutations in PRDM10." [MONDO:patterns/disease_series_by_gene] +synonym: "BHD2" EXACT ABBREVIATION [OMIM:620459] +xref: OMIM:620459 {source="MONDO:equivalentTo"} +is_a: MONDO:0800444 {source="OMIM:620459"} ! Birt-Hogg-Dube syndrome +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 + [Term] id: MONDO:0810000 name: choroidal neovascularization