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added Caroli syndrome
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lschriml committed Nov 28, 2023
1 parent 0ec42ca commit 82251f4
Showing 1 changed file with 17 additions and 3 deletions.
20 changes: 17 additions & 3 deletions src/ontology/doid-edit.owl
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Original file line number Diff line number Diff line change
Expand Up @@ -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))
Expand Down Expand Up @@ -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.")
Expand Down Expand Up @@ -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)
Expand Down Expand Up @@ -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")
Expand Down

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