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Additions of nomenclature, synonyms, and database cross-references fo…
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…r SMARCB1-deficient renal medullary carcinoma

Github #1281
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@csbjohnson
csbjohnson committed Jan 4, 2024
1 parent 31856a3 commit 49cac6a
Showing 1 changed file with 8 additions and 7 deletions.
15 changes: 8 additions & 7 deletions src/ontology/doid-edit.owl
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Expand Up @@ -33950,8 +33950,8 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060413 "MESH:C567511")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060413 "OMIM:611867")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060413 "ORDO:261330")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060413 "22q11.2 deletion syndrome")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060413 "distal 22q11.2 microdeletion syndrome"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060413 "DiGeorge syndrome and Velocardiofacial syndrome")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060413 "distal 22q11.2 microdeletion syndrome"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060413 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0060413 "DOID:0060413")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0060413 doid:DO_rare_slim)
Expand Down Expand Up @@ -35168,7 +35168,7 @@ SubClassOf(obo:DOID_0060484 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0060485 (Mowat-Wilson syndrome)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17958891") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23466526") Annotation(oboInOwl:hasDbXref "url:https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome") obo:IAO_0000115 obo:DOID_0060485 "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17958891") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23466526") obo:IAO_0000115 obo:DOID_0060485 "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060485 "GARD:9673")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060485 "MESH:C536990")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060485 "NCI:C74999")
Expand Down Expand Up @@ -46718,9 +46718,9 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070474 "UMLS_CUI:C5567227")
SubClassOf(obo:DOID_0070474 obo:DOID_1289)
SubClassOf(obo:DOID_0070474 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

# Class: obo:DOID_0070475 (renal medullary carcinoma)
# Class: obo:DOID_0070475 (SMARCB1-deficient renal medullary carcinoma)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28697319/") obo:IAO_0000115 obo:DOID_0070475 "A renal cell carcinoma that develops in the renal medulla.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28697319/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35853783/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/36645398/") obo:IAO_0000115 obo:DOID_0070475 "A renal cell carcinoma that develops in the renal medulla.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070475 "GARD:13175")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070475 "NCI:C7572")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070475 "ORDO:319319")
Expand All @@ -46730,11 +46730,12 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070475 "RMC")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070475 "kidney medullary carcinoma")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070475 "medullary carcinoma of the kidney")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070475 "medullary renal cell carcinoma")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070475 "renal medullary carcinoma")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070475 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0070475 "DOID:0070475")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070475 doid:DO_cancer_slim)
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070475 doid:DO_rare_slim)
AnnotationAssertion(rdfs:label obo:DOID_0070475 "renal medullary carcinoma"@en)
AnnotationAssertion(rdfs:label obo:DOID_0070475 "SMARCB1-deficient renal medullary carcinoma"@en)
AnnotationAssertion(skos:exactMatch obo:DOID_0070475 "GARD:13175")
AnnotationAssertion(skos:exactMatch obo:DOID_0070475 "NCI:C7572")
AnnotationAssertion(skos:exactMatch obo:DOID_0070475 "ORDO:319319")
Expand Down Expand Up @@ -136478,7 +136479,7 @@ SubClassOf(obo:DOID_1927 obo:DOID_9455)

# Class: obo:DOID_1928 (Williams-Beuren syndrome)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/williams-syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1249/") Annotation(oboInOwl:hasDbXref "url:https://research.nhgri.nih.gov/atlas/condition/williams-syndrome") obo:IAO_0000115 obo:DOID_1928 "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.")
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/williams-syndrome") Annotation(oboInOwl:hasDbXref "url:https://research.nhgri.nih.gov/atlas/condition/williams-syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1249/") obo:IAO_0000115 obo:DOID_1928 "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1928 "ICD10CM:Q93.82")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1928 "MESH:D018980")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1928 "NCI:C85232")
Expand Down Expand Up @@ -199319,7 +199320,7 @@ AnnotationAssertion(owl:deprecated obo:DOID_9241 "true"^^xsd:boolean)

# Class: obo:DOID_9245 (Alagille syndrome)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.niddk.nih.gov/health-information/liver-disease/alagille-syndrome/definition-facts") Annotation(oboInOwl:hasDbXref "url:https://research.nhgri.nih.gov/atlas/condition/alagille-syndrome") obo:IAO_0000115 obo:DOID_9245 "A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.")
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://research.nhgri.nih.gov/atlas/condition/alagille-syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.niddk.nih.gov/health-information/liver-disease/alagille-syndrome/definition-facts") obo:IAO_0000115 obo:DOID_9245 "A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9245 "GARD:804")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9245 "ICD10CM:Q44.7")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9245 "MESH:D016738")
Expand Down

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