From 4365b7e22d149728f7f032a9e63f6e938d7ddd65 Mon Sep 17 00:00:00 2001 From: "J. Allen Baron" Date: Wed, 18 Oct 2023 13:22:38 -0400 Subject: [PATCH] Add Legius and Watson syndromes Issue #703 --- src/ontology/doid-edit.owl | 39 ++++++++++++++++++++++++++++++++++++++ 1 file changed, 39 insertions(+) diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 7df493e10..a1537e254 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -2368,6 +2368,8 @@ Declaration(Class(obo:DOID_0070479)) Declaration(Class(obo:DOID_0070480)) Declaration(Class(obo:DOID_0070481)) Declaration(Class(obo:DOID_0070482)) +Declaration(Class(obo:DOID_0070483)) +Declaration(Class(obo:DOID_0070484)) Declaration(Class(obo:DOID_0080000)) Declaration(Class(obo:DOID_0080001)) Declaration(Class(obo:DOID_0080005)) @@ -46475,6 +46477,43 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070482 "OMIM:162210") SubClassOf(obo:DOID_0070482 obo:DOID_0111253) SubClassOf(obo:DOID_0070482 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0009623)) +# Class: obo:DOID_0070483 (Watson syndrome) + +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/1770531/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/6025371/") obo:IAO_0000115 obo:DOID_0070483 "A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070483 "OMIM:193520") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070483 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0070483 "DOID:0070483") +AnnotationAssertion(rdfs:label obo:DOID_0070483 "Watson syndrome") +AnnotationAssertion(skos:exactMatch obo:DOID_0070483 "OMIM:193520") +SubClassOf(obo:DOID_0070483 obo:DOID_0080690) +SubClassOf(obo:DOID_0070483 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147)) + +# Class: obo:DOID_0070484 (Legius syndrome) + +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34012067/") obo:IAO_0000115 obo:DOID_0070484 "A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070484 "GARD:10714") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070484 "MESH:C548032") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070484 "NCI:C176941") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070484 "OMIM:611431") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070484 "ORDO:137605") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070484 "SNOMEDCT_US_2023_03_01:703541007") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070484 "UMLS_CUI:C1969623") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070484 "LGSS") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070484 "NF1-like syndrome") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070484 "neurofibromatosis type 1-like syndrome") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070484 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0070484 "DOID:0070484") +AnnotationAssertion(rdfs:label obo:DOID_0070484 "Legius syndrome") +AnnotationAssertion(skos:exactMatch obo:DOID_0070484 "GARD:10714") +AnnotationAssertion(skos:exactMatch obo:DOID_0070484 "MESH:C548032") +AnnotationAssertion(skos:exactMatch obo:DOID_0070484 "NCI:C176941") +AnnotationAssertion(skos:exactMatch obo:DOID_0070484 "OMIM:611431") +AnnotationAssertion(skos:exactMatch obo:DOID_0070484 "ORDO:137605") +AnnotationAssertion(skos:exactMatch obo:DOID_0070484 "SNOMEDCT_US_2023_03_01:703541007") +AnnotationAssertion(skos:exactMatch obo:DOID_0070484 "UMLS_CUI:C1969623") +SubClassOf(obo:DOID_0070484 obo:DOID_0080690) +SubClassOf(obo:DOID_0070484 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147)) + # Class: obo:DOID_0080000 (muscular disease) AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html") obo:IAO_0000115 obo:DOID_0080000 "A musculoskeletal system disease that affects the muscles.")