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Add Perrault syndrome 7
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src/ontology/doid-edit.owl

Lines changed: 13 additions & 1 deletion
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@@ -2096,6 +2096,7 @@ Declaration(Class(obo:DOID_0061069))
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Declaration(Class(obo:DOID_0061070))
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Declaration(Class(obo:DOID_0061071))
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Declaration(Class(obo:DOID_0061072))
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Declaration(Class(obo:DOID_0061073))
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Declaration(Class(obo:DOID_0061074))
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Declaration(Class(obo:DOID_0061075))
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Declaration(Class(obo:DOID_0061076))
@@ -43166,6 +43167,17 @@ SubClassOf(obo:DOID_0061072 obo:DOID_0080710)
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SubClassOf(obo:DOID_0061072 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000149))
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SubClassOf(obo:DOID_0061072 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0011463))
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# Class: obo:DOID_0061073 (Perrault syndrome 7)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/39701103/") obo:IAO_0000115 obo:DOID_0061073 "A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061073 "MIM:621101")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061073 "PRLTS7")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061073 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061073 "DOID:0061073")
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AnnotationAssertion(rdfs:label obo:DOID_0061073 "Perrault syndrome 7")
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SubClassOf(obo:DOID_0061073 obo:DOID_0050857)
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SubClassOf(obo:DOID_0061073 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0061074 (severe combined immunodeficiency 105)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10700239/") obo:IAO_0000115 obo:DOID_0061074 "A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31.")
@@ -68577,7 +68589,7 @@ SubClassOf(obo:DOID_0090013 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
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# Class: obo:DOID_0090014 (severe combined immunodeficiency 104)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15661025") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9068311") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9843216") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15661025/") obo:IAO_0000115 obo:DOID_0090014 "A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15661025/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15661025") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9068311") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/9843216") obo:IAO_0000115 obo:DOID_0090014 "A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.")
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AnnotationAssertion(oboInOwl:hasAlternativeId obo:DOID_0090014 "DOID:0060015")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090014 "ICD10CM:D81.2")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090014 "MESH:C563822")

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