diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 8852a6203..2f0661b2a 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -1888,6 +1888,11 @@ Declaration(Class(obo:DOID_0060902)) Declaration(Class(obo:DOID_0060903)) Declaration(Class(obo:DOID_0060904)) Declaration(Class(obo:DOID_0060911)) +Declaration(Class(obo:DOID_0060912)) +Declaration(Class(obo:DOID_0060913)) +Declaration(Class(obo:DOID_0060916)) +Declaration(Class(obo:DOID_0060917)) +Declaration(Class(obo:DOID_0060918)) Declaration(Class(obo:DOID_0070000)) Declaration(Class(obo:DOID_0070001)) Declaration(Class(obo:DOID_0070002)) @@ -13935,7 +13940,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:http://purl.obolibrary.or AnnotationAssertion(rdfs:isDefinedBy obo:IAO_0000119 obo:iao.owl) AnnotationAssertion(rdfs:label obo:IAO_0000119 "definition source") -# Annotation Property: obo:IAO_0000700 (has ontology root term) +# Annotation Property: obo:IAO_0000700 (has_ontology_root_term) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:http://purl.obolibrary.org/obo/IAO_0000700") obo:IAO_0000115 obo:IAO_0000700 "Has ontology root term.") AnnotationAssertion(rdfs:label obo:IAO_0000700 "has_ontology_root_term") @@ -14121,7 +14126,7 @@ AnnotationAssertion(rdfs:label oboInOwl:hasBroadSynonym "has_broad_synonym") AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#hasDbXref") obo:IAO_0000115 oboInOwl:hasDbXref "Reference database or publication source.") AnnotationAssertion(rdfs:label oboInOwl:hasDbXref "database_cross_reference") -# Annotation Property: oboInOwl:hasExactSynonym (has_exact_synonym) +# Annotation Property: oboInOwl:hasExactSynonym (has exact synonym) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:http://www.geneontology.org/formats/oboInOwl#hasExactSynonym") obo:IAO_0000115 oboInOwl:hasExactSynonym "Exact synonym.") AnnotationAssertion(rdfs:label oboInOwl:hasExactSynonym "has_exact_synonym") @@ -20347,7 +20352,7 @@ SubClassOf(obo:DOID_0050474 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000061 # Class: obo:DOID_0050475 (Weill-Marchesani syndrome) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome") Annotation(oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome") obo:IAO_0000115 obo:DOID_0050475 "A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.") +AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome") Annotation(oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome") obo:IAO_0000115 obo:DOID_0050475 "A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050475 "GARD:4936") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050475 "MESH:D056846") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050475 "NCI:C85226") @@ -21422,19 +21427,29 @@ AnnotationAssertion(rdfs:comment obo:DOID_0050551 "OMIM mapping confirmed by DO. AnnotationAssertion(rdfs:label obo:DOID_0050551 "obsolete Verma-Naumoff syndrome") AnnotationAssertion(owl:deprecated obo:DOID_0050551 "true"^^xsd:boolean) -# Class: obo:DOID_0050553 (JMP syndrome) +# Class: obo:DOID_0050553 (proteasome-associated autoinflammatory syndrome 1) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:http://www.eurekalert.org/pub_releases/2010-12/usmc-rig120110.php") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21129723") obo:IAO_0000115 obo:DOID_0050553 "A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21.32.") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21129723/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21852578/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21881205/") obo:IAO_0000115 obo:DOID_0050553 "A proteasome-associated autoinflammatory syndrome characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation that has_material_basis_in homozygous mutation in the PSMB8 gene on chromosome 6p21 or heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 gene on chromosome 1q21.") +AnnotationAssertion(oboInOwl:hasAlternativeId obo:DOID_0050553 "DOID:0060914") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050553 "GARD:10988") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050553 "GARD:3916") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050553 "GARD:3917") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050553 "OMIM:256040") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050553 "ORDO:324999") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "CANDLE") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "JMP syndrome"@en) AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY"@en) +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "NKJO") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "Nakajo-Nishimura syndrome") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "PRAAS1") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050553 "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome") AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0050553 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0050553 "DOID:0050553") AnnotationAssertion(oboInOwl:inSubset obo:DOID_0050553 doid:DO_rare_slim) -AnnotationAssertion(rdfs:label obo:DOID_0050553 "JMP syndrome") -SubClassOf(obo:DOID_0050553 obo:DOID_225) +AnnotationAssertion(rdfs:label obo:DOID_0050553 "proteasome-associated autoinflammatory syndrome 1") +SubClassOf(obo:DOID_0050553 obo:DOID_0060913) SubClassOf(obo:DOID_0050553 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148)) +SubClassOf(obo:DOID_0050553 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000930)) # Class: obo:DOID_0050554 (X-linked sideroblastic anemia with ataxia) @@ -23717,10 +23732,12 @@ AnnotationAssertion(oboInOwl:created_by obo:DOID_0050715 "lschriml") AnnotationAssertion(oboInOwl:creation_date obo:DOID_0050715 "2012-05-23T03:26:25Z") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050715 "OMIM:277400") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050715 "Cobalamin C deficiency"@en) +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050715 "MAHCC") AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0050715 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0050715 "DOID:0050715") AnnotationAssertion(rdfs:label obo:DOID_0050715 "methylmalonic aciduria and homocystinuria type cblC") SubClassOf(obo:DOID_0050715 obo:DOID_14749) +SubClassOf(obo:DOID_0050715 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000930)) # Class: obo:DOID_0050716 (methylmalonic aciduria and homocystinuria type cblD) @@ -23729,6 +23746,7 @@ AnnotationAssertion(oboInOwl:created_by obo:DOID_0050716 "lschriml") AnnotationAssertion(oboInOwl:creation_date obo:DOID_0050716 "2012-05-23T03:26:25Z") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050716 "OMIM:277410") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050716 "Cobalamin D deficiency"@en) +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050716 "MAHCD") AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0050716 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0050716 "DOID:0050716") AnnotationAssertion(rdfs:label obo:DOID_0050716 "methylmalonic aciduria and homocystinuria type cblD") @@ -23741,6 +23759,7 @@ AnnotationAssertion(oboInOwl:created_by obo:DOID_0050717 "lschriml") AnnotationAssertion(oboInOwl:creation_date obo:DOID_0050717 "2012-05-23T03:26:25Z") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050717 "OMIM:277380") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050717 "Cobalamin F deficiency"@en) +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050717 "MAHCF") AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0050717 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0050717 "DOID:0050717") AnnotationAssertion(rdfs:label obo:DOID_0050717 "methylmalonic aciduria and homocystinuria type cblF") @@ -36130,7 +36149,7 @@ SubClassOf(obo:DOID_0060585 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014 # Class: obo:DOID_0060586 (Noonan syndrome 8) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24939608") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25124994") obo:IAO_0000115 obo:DOID_0060586 "A Noonan syndrome that has_material_basis_in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22.") +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/24939608") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25124994") obo:IAO_0000115 obo:DOID_0060586 "A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22.") AnnotationAssertion(oboInOwl:hasAlternativeId obo:DOID_0060586 "DOID:0070108") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060586 "ICD10CM:Q87.1") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060586 "OMIM:615355") @@ -40307,6 +40326,63 @@ AnnotationAssertion(rdfs:label obo:DOID_0060911 "karyomegalic interstitial nephr SubClassOf(obo:DOID_0060911 obo:DOID_1063) SubClassOf(obo:DOID_0060911 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148)) +# Class: obo:DOID_0060912 (craniosynostosis 7) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/23438589/") obo:IAO_0000115 obo:DOID_0060912 "A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060912 "OMIM:617439") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060912 "CRS7") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060912 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0060912 "DOID:0060912") +AnnotationAssertion(rdfs:label obo:DOID_0060912 "craniosynostosis 7"@en) +SubClassOf(obo:DOID_0060912 obo:DOID_2340) +SubClassOf(obo:DOID_0060912 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000930)) + +# Class: obo:DOID_0060913 (proteosome-associated autoinflammatory syndrome) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25521013/") obo:IAO_0000115 obo:DOID_0060913 "A syndrome that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060913 "OMIM:PS256040") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060913 "ORDO:324977") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060913 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0060913 "DOID:0060913") +AnnotationAssertion(rdfs:label obo:DOID_0060913 "proteosome-associated autoinflammatory syndrome"@en) +SubClassOf(obo:DOID_0060913 obo:DOID_225) + +# Class: obo:DOID_0060916 (proteasome-associated autoinflammatory syndrome 3) + +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26524591/") obo:IAO_0000115 obo:DOID_0060916 "A proteasome-associated autoinflammatory syndrome characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060916 "OMIM:617591") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060916 "PRAAS3") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060916 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0060916 "DOID:0060916") +AnnotationAssertion(rdfs:label obo:DOID_0060916 "proteasome-associated autoinflammatory syndrome 3"@en) +SubClassOf(obo:DOID_0060916 obo:DOID_0060913) +SubClassOf(obo:DOID_0060916 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148)) +SubClassOf(obo:DOID_0060916 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000930)) + +# Class: obo:DOID_0060917 (facioscapulohumeral muscular dystrophy 3) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32467133/") obo:IAO_0000115 obo:DOID_0060917 "A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060917 "OMIM:619477") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060917 "FSHD3") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060917 "facioscapulohumeral muscular dystrophy type 3") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060917 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0060917 "DOID:0060917") +AnnotationAssertion(rdfs:label obo:DOID_0060917 "facioscapulohumeral muscular dystrophy 3"@en) +SubClassOf(obo:DOID_0060917 obo:DOID_11727) +SubClassOf(obo:DOID_0060917 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000930)) + +# Class: obo:DOID_0060918 (facioscapulohumeral muscular dystrophy 4) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27153398/") obo:IAO_0000115 obo:DOID_0060918 "A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060918 "OMIM:619478") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060918 "FSHD4") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060918 "facioscapulohumeral muscular dystrophy type 4") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060918 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0060918 "DOID:0060918") +AnnotationAssertion(rdfs:label obo:DOID_0060918 "facioscapulohumeral muscular dystrophy 4"@en) +SubClassOf(obo:DOID_0060918 obo:DOID_11727) +SubClassOf(obo:DOID_0060918 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000930)) + # Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8) AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117") obo:IAO_0000115 obo:DOID_0070000 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.") @@ -53427,7 +53503,7 @@ SubClassOf(obo:DOID_0080626 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014 # Class: obo:DOID_0080627 (alopecia-mental retardation syndrome) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17451405") obo:IAO_0000115 obo:DOID_0080627 "A syndrome that is characterized by loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation.") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17451405") obo:IAO_0000115 obo:DOID_0080627 "A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability.") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080627 "GARD:612") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080627 "OMIM:PS203650") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080627 "ORDO:2850") @@ -56594,7 +56670,7 @@ SubClassOf(obo:DOID_0080924 obo:DOID_0080918) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1419/") obo:IAO_0000115 obo:DOID_0080925 "A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2.") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080925 "GARD:12664") -AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080925 "NCI:131302") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080925 "NCI:C131302") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080925 "OMIM:613571") AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080925 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0080925 "DOID:0080925") @@ -74730,12 +74806,14 @@ AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasD AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110839 "ICD10CM:H35.5") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110839 "OMIM:605472") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110839 "USH2C"@en) +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110839 "Usher syndrome IIC") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110839 "Usher syndrome type IIC"@en) AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0110839 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0110839 "DOID:0110839") AnnotationAssertion(rdfs:label obo:DOID_0110839 "Usher syndrome type 2C") SubClassOf(obo:DOID_0110839 obo:DOID_0110827) SubClassOf(obo:DOID_0110839 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148)) +SubClassOf(obo:DOID_0110839 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000930)) # Class: obo:DOID_0110840 (Usher syndrome type 2D) @@ -132799,7 +132877,7 @@ SubClassOf(obo:DOID_1686 obo:DOID_5614) # Class: obo:DOID_1687 (neovascular glaucoma) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://journalretinavitreous.biomedcentral.com/articles/10.1186/s40942-016-0051-x") obo:IAO_0000115 obo:DOID_1687 "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoinmmune diseases.") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://journalretinavitreous.biomedcentral.com/articles/10.1186/s40942-016-0051-x") obo:IAO_0000115 obo:DOID_1687 "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases.") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1687 "MESH:D015355") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1687 "SNOMEDCT_US_2022_09_01:193564003") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1687 "UMLS_CUI:C0017609") @@ -170201,7 +170279,7 @@ SubClassOf(obo:DOID_5520 ObjectSomeValuesFrom(obo:RO_0001000 obo:CL_0000076)) # Class: obo:DOID_5521 (keratinizing squamous cell carcinoma) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007646) Annotation(oboInOwl:hasDbXref "url:http://books.google.com/books?id=TQju7e__pRIC&pg=PA1132&lpg=PA1132&dq#v=onepage&q&f=false") obo:IAO_0000115 obo:DOID_5521 "A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris.") +AnnotationAssertion(Annotation(dc:type obo:ECO_0007646) Annotation(oboInOwl:hasDbXref "url:http://books.google.com/books?id=TQju7e__pRIC&pg=PA1132&lpg=PA1132&dq#v=onepage&q&f=false") obo:IAO_0000115 obo:DOID_5521 "A squamous cell carcinoma that presents as single, isolated cells with bizarre cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris.") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5521 "NCI:C4105") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5521 "SNOMEDCT_US_2022_09_01:18048008") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_5521 "UMLS_CUI:C0334247") @@ -189120,7 +189198,7 @@ SubClassOf(obo:DOID_8178 obo:DOID_4995) # Class: obo:DOID_8179 (cervical atypical polypoid adenomyoma) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23805464") obo:IAO_0000115 obo:DOID_8179 "A cervical adenomyoma that is aumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma.") +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23805464") obo:IAO_0000115 obo:DOID_8179 "A cervical adenomyoma that is tumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma.") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_8179 "NCI:C40234") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_8179 "UMLS_CUI:C1516409") AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_8179 "disease_ontology")