From 584384b21dd8b99c53c3e9d59826a1e74dd906bd Mon Sep 17 00:00:00 2001 From: Elvira Date: Fri, 17 Feb 2017 15:52:08 -0500 Subject: [PATCH] OMIM --- src/ontology/doid-edit.owl | 100 +++++++++++++++++++++++++++++++++++++ 1 file changed, 100 insertions(+) diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 8e05dfd77..efa7af384 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -1747,6 +1747,12 @@ Declaration(Class(obo:DOID_0060866)) Declaration(Class(obo:DOID_0060867)) Declaration(Class(obo:DOID_0060868)) Declaration(Class(obo:DOID_0060869)) +Declaration(Class(obo:DOID_0060870)) +Declaration(Class(obo:DOID_0060871)) +Declaration(Class(obo:DOID_0060872)) +Declaration(Class(obo:DOID_0060873)) +Declaration(Class(obo:DOID_0060874)) +Declaration(Class(obo:DOID_0060875)) Declaration(Class(obo:DOID_0070001)) Declaration(Class(obo:DOID_0070003)) Declaration(Class(obo:DOID_0070004)) @@ -32155,6 +32161,100 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0060869 "DOID:0060869") AnnotationAssertion(rdfs:label obo:DOID_0060869 "late-onset retinal degenration"^^xsd:string) SubClassOf(obo:DOID_0060869 obo:DOID_8466) +# Class: obo:DOID_0060870 (isolated growth hormone deficiency) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:url:https://www.ncbi.nlm.nih.gov/pubmed/8288694") obo:IAO_0000115 obo:DOID_0060870 "A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060870 "ICD10CM:E23.0") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060870 "ORDO:631") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060870 "UMLS_CUI:C0013338") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060870 "IGHD") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060870 "congenital IGHD") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060870 "congenital isolated GH deficiency") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060870 "congenital isolated growth hormone deficiency") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060870 "familial isolated growth hormone deficiency") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060870 "non-acquired isolated growth hormone deficiency") +AnnotationAssertion(oboInOwl:id obo:DOID_0060870 "DOID:0060870") +AnnotationAssertion(rdfs:label obo:DOID_0060870 "isolated growth hormone deficiency"^^xsd:string) +SubClassOf(obo:DOID_0060870 obo:DOID_9406) + +# Class: obo:DOID_0060871 (autosomal dominant keratitis-ichthyosis-deafness syndrome) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11912510") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11918723") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3579358") obo:IAO_0000115 obo:DOID_0060871 "An autosomal dominant disease characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060871 "ICD10CM:Q80.8") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060871 "OMIM:148210") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060871 "ORDO:477") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060871 "autosomal dominant KID syndrome") +AnnotationAssertion(oboInOwl:id obo:DOID_0060871 "DOID:0060871") +AnnotationAssertion(rdfs:label obo:DOID_0060871 "autosomal dominant keratitis-ichthyosis-deafness syndrome"^^xsd:string) +SubClassOf(obo:DOID_0060871 obo:DOID_0050736) + +# Class: obo:DOID_0060872 (isolated growth hormone deficiency type II) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15671105") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8288694") obo:IAO_0000115 obo:DOID_0060872 "An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060872 "ICD10CM:E23.0") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060872 "OMIM:173100") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060872 "ORDO:231679") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060872 "IGHD II") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060872 "autosomal dominant isolated growth hormone deficiency") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060872 "autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060872 "congenital IGHD type II") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060872 "congenital isolated GH deficiency type II") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060872 "congenital isolated growth hormone deficiency type II") +AnnotationAssertion(oboInOwl:id obo:DOID_0060872 "DOID:0060872") +AnnotationAssertion(rdfs:label obo:DOID_0060872 "isolated growth hormone deficiency type II"^^xsd:string) +SubClassOf(obo:DOID_0060872 obo:DOID_0060870) + +# Class: obo:DOID_0060873 (isolated growth hormone deficiency type IA) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16060904") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8288694") obo:IAO_0000115 obo:DOID_0060873 "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material_basis_in null mutations in the GH1 gene on chromosome 17q23.3.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060873 "ICD10CM:E23.0") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060873 "OMIM:262400") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060873 "ORDO:231662") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060873 "IGHD IA") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060873 "Illig-type growth hormone deficiency") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060873 "autosomal recessive isolated growth hormone deficiency") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060873 "pituitary dwarfism I") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060873 "primordial dwarfism") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060873 "sexual ateleiotic dwarfism") +AnnotationAssertion(oboInOwl:id obo:DOID_0060873 "DOID:0060873") +AnnotationAssertion(rdfs:label obo:DOID_0060873 "isolated growth hormone deficiency type IA"^^xsd:string) +SubClassOf(obo:DOID_0060873 obo:DOID_0060870) + +# Class: obo:DOID_0060874 (isolated growth hormone deficiency type IB) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10678654") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8288694") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8528260") obo:IAO_0000115 obo:DOID_0060874 "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060874 "ICD10CM:E23.0") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060874 "OMIM:612781") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060874 "ORDO:231671") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060874 "IGHD IB") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060874 "congenital IGHD type IB") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060874 "congenital isolated GH deficiency type IB") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060874 "congenital isolated growth hormone deficiency type IB") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060874 "dwarfism of Sindh") +AnnotationAssertion(oboInOwl:id obo:DOID_0060874 "DOID:0060874") +AnnotationAssertion(rdfs:label obo:DOID_0060874 "isolated growth hormone deficiency type IB"^^xsd:string) +SubClassOf(obo:DOID_0060874 obo:DOID_0060870) + +# Class: obo:DOID_0060875 (isolated growth hormone deficiency type III) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8013627") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8288694") obo:IAO_0000115 obo:DOID_0060875 "An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material_basis_in mutation in the BTK gene on chromosome Xq22.1.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060875 "ICD10CM:E23.0") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060875 "OMIM:307200") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060875 "ORDO:231692") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060875 "Fleisher syndrome") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060875 "IGHD III") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060875 "X-linked IGHD") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060875 "X-linked agammaglobulinemia and isolated growth hormone deficiency") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060875 "X-linked hypogammaglobulinemia and isolated growth hormone deficiency") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060875 "X-linked isolated growth hormone deficiency") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060875 "congenital IGHD type III") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060875 "congenital isolated GH deficiency type III") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060875 "congenital isolated growth hormone deficiency type III") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060875 "growth hormone deficiency with hypogammaglobulinemia") +AnnotationAssertion(oboInOwl:id obo:DOID_0060875 "DOID:0060875") +AnnotationAssertion(rdfs:label obo:DOID_0060875 "isolated growth hormone deficiency type III"^^xsd:string) +SubClassOf(obo:DOID_0060875 obo:DOID_0060870) + # Class: obo:DOID_0070001 (neoplastic disease) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neoplasm"^^xsd:string) obo:IAO_0000115 obo:DOID_0070001 "A disease of cellular proliferation that results in an abnormal mass of tissue."^^xsd:string)