From 82251f41713ea27530dcab0541b3fea10919da17 Mon Sep 17 00:00:00 2001 From: lschriml Date: Tue, 28 Nov 2023 12:50:31 -0500 Subject: [PATCH] added Caroli syndrome --- src/ontology/doid-edit.owl | 20 +++++++++++++++++--- 1 file changed, 17 insertions(+), 3 deletions(-) diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index ee9bef896..d2d5479d8 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -3733,6 +3733,7 @@ Declaration(Class(obo:DOID_0081390)) Declaration(Class(obo:DOID_0081391)) Declaration(Class(obo:DOID_0081392)) Declaration(Class(obo:DOID_0081393)) +Declaration(Class(obo:DOID_0081394)) Declaration(Class(obo:DOID_0090001)) Declaration(Class(obo:DOID_0090002)) Declaration(Class(obo:DOID_0090003)) @@ -62003,6 +62004,19 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0081393 "DOID:0081393") AnnotationAssertion(rdfs:label obo:DOID_0081393 "organophosphate-induced delayed polyneuropathy"@en) SubClassOf(obo:DOID_0081393 obo:DOID_2537) +# Class: obo:DOID_0081394 (Caroli syndrome) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29643536/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30020679/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK513307/") obo:IAO_0000115 obo:DOID_0081394 "A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081394 "GARD:6002") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081394 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0081394 "DOID:0081394") +AnnotationAssertion(rdfs:label obo:DOID_0081394 "Caroli syndrome"@en) +SubClassOf(obo:DOID_0081394 obo:DOID_225) +SubClassOf(obo:DOID_0081394 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148)) +SubClassOf(obo:DOID_0081394 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0002017)) +SubClassOf(obo:DOID_0081394 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0002107)) +SubClassOf(obo:DOID_0081394 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0002394)) + # Class: obo:DOID_0090001 (Fraser syndrome) AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12766769") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15838507") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16894541") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22510445") obo:IAO_0000115 obo:DOID_0090001 "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.") @@ -80166,13 +80180,13 @@ SubClassOf(obo:DOID_0111188 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000363 # Class: obo:DOID_0111189 (distal myopathy 3) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12847162") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15036327") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34722876/") obo:IAO_0000115 obo:DOID_0111189 "A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.") +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34722876/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12847162") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15036327") obo:IAO_0000115 obo:DOID_0111189 "A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111189 "OMIM:610099") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111189 "ORDO:399086") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111189 "MPD3"@en) +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111189 "distal muscular dystrophy 3") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111189 "distal muscular dystrophy 3"@en) AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111189 "distal myopathy type 3"@en) -AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111189 "distal muscular dystrophy 3") AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111189 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0111189 "DOID:0111189") AnnotationAssertion(oboInOwl:inSubset obo:DOID_0111189 doid:DO_rare_slim) @@ -110839,12 +110853,12 @@ AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasD AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11720 "ICD10CM:G71.09") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11720 "MESH:D049310") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11720 "NCI:C84675") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11720 "OMIM:PS160500") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11720 "ORDO:399096") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11720 "ORDO:5448") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11720 "ORDO:59135") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11720 "SNOMEDCT_US_2023_03_01:58795000") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11720 "UMLS_CUI:C0751336") -AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_11720 "OMIM:PS160500") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_11720 "Miyoshi muscular dystrophy"@en) AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_11720 "distal muscular dystrophy"@en) AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_11720 "disease_ontology")