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lschriml
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added subtypes congenital disorder of glycosylation type II
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‎src/ontology/doid-edit.owl‎

Lines changed: 79 additions & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -1106,6 +1106,13 @@ Declaration(Class(obo:DOID_0051043))
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Declaration(Class(obo:DOID_0051044))
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Declaration(Class(obo:DOID_0051045))
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Declaration(Class(obo:DOID_0051046))
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Declaration(Class(obo:DOID_0051047))
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Declaration(Class(obo:DOID_0051048))
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Declaration(Class(obo:DOID_0051049))
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Declaration(Class(obo:DOID_0051050))
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Declaration(Class(obo:DOID_0051051))
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Declaration(Class(obo:DOID_0051052))
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Declaration(Class(obo:DOID_0051053))
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Declaration(Class(obo:DOID_0060000))
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Declaration(Class(obo:DOID_0060001))
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Declaration(Class(obo:DOID_0060002))
@@ -28589,6 +28596,76 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0051046 "DOID:0051046")
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AnnotationAssertion(rdfs:label obo:DOID_0051046 "spondyloepimetaphyseal dysplasia, Li-Shao-Li type")
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SubClassOf(obo:DOID_0051046 obo:DOID_0080027)
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# Class: obo:DOID_0051047 (congenital disorder of glycosylation type IIbb)
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37711075/") obo:IAO_0000115 obo:DOID_0051047 "A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051047 "MIM:620546")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051047 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0051047 "DOID:0051047")
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AnnotationAssertion(rdfs:label obo:DOID_0051047 "congenital disorder of glycosylation type IIbb")
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SubClassOf(obo:DOID_0051047 obo:DOID_0050571)
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SubClassOf(obo:DOID_0051047 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0051048 (congenital disorder of glycosylation type IIr)
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29127204/") obo:IAO_0000115 obo:DOID_0051048 "A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051048 "MIM:301045")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051048 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0051048 "DOID:0051048")
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AnnotationAssertion(rdfs:label obo:DOID_0051048 "congenital disorder of glycosylation type IIr")
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SubClassOf(obo:DOID_0051048 obo:DOID_0050571)
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SubClassOf(obo:DOID_0051048 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000149))
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# Class: obo:DOID_0051049 (congenital disorder of glycosylation type IIt)
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32293671/") obo:IAO_0000115 obo:DOID_0051049 "A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051049 "MIM:618885")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051049 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0051049 "DOID:0051049")
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AnnotationAssertion(rdfs:label obo:DOID_0051049 "congenital disorder of glycosylation type IIt")
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SubClassOf(obo:DOID_0051049 obo:DOID_0050571)
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SubClassOf(obo:DOID_0051049 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0051050 (congenital disorder of glycosylation type IIv)
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34143952/") obo:IAO_0000115 obo:DOID_0051050 "A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051050 "MIM:619493")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051050 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0051050 "DOID:0051050")
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AnnotationAssertion(rdfs:label obo:DOID_0051050 "congenital disorder of glycosylation type IIv")
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SubClassOf(obo:DOID_0051050 obo:DOID_0050571)
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SubClassOf(obo:DOID_0051050 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0051051 (congenital disorder of glycosylation type IIw)
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33964207/") obo:IAO_0000115 obo:DOID_0051051 "A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051051 "MIM:619525")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051051 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0051051 "DOID:0051051")
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AnnotationAssertion(rdfs:label obo:DOID_0051051 "congenital disorder of glycosylation type IIw")
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SubClassOf(obo:DOID_0051051 obo:DOID_0050571)
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SubClassOf(obo:DOID_0051051 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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# Class: obo:DOID_0051052 (congenital disorder of glycosylation type IIy)
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32395830/") obo:IAO_0000115 obo:DOID_0051052 "A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051052 "MIM:620200")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051052 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0051052 "DOID:0051052")
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AnnotationAssertion(rdfs:label obo:DOID_0051052 "congenital disorder of glycosylation type IIy")
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SubClassOf(obo:DOID_0051052 obo:DOID_0050571)
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SubClassOf(obo:DOID_0051052 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0051053 (congenital disorder of glycosylation type IIz)
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35262690/") obo:IAO_0000115 obo:DOID_0051053 "A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051053 "MIM:620201")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051053 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0051053 "DOID:0051053")
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AnnotationAssertion(rdfs:label obo:DOID_0051053 "congenital disorder of glycosylation type IIz")
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SubClassOf(obo:DOID_0051053 obo:DOID_0050571)
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SubClassOf(obo:DOID_0051053 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0060000 (infective endocarditis)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endocarditis") Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Infective_endocarditis") obo:IAO_0000115 obo:DOID_0060000 "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.")
@@ -99018,9 +99095,10 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0112002 "immunodeficiency
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0112002 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0112002 "DOID:0112002")
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AnnotationAssertion(rdfs:label obo:DOID_0112002 "immunodeficiency 47")
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SubClassOf(obo:DOID_0112002 obo:DOID_0050571)
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SubClassOf(obo:DOID_0112002 obo:DOID_612)
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SubClassOf(obo:DOID_0112002 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000149))
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SubClassOf(obo:DOID_0112002 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0010978))
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SubClassOf(obo:DOID_0112002 ObjectSomeValuesFrom(obo:RO_0004029 obo:DOID_5212))
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# Class: obo:DOID_0112003 (immunodeficiency 33)
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