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Add mucopolysaccharidosis X
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src/ontology/doid-edit.owl

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@@ -2156,6 +2156,7 @@ Declaration(Class(obo:DOID_0061122))
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Declaration(Class(obo:DOID_0061123))
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Declaration(Class(obo:DOID_0061124))
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Declaration(Class(obo:DOID_0061125))
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Declaration(Class(obo:DOID_0061128))
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Declaration(Class(obo:DOID_0070000))
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Declaration(Class(obo:DOID_0070001))
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Declaration(Class(obo:DOID_0070002))
@@ -43905,6 +43906,20 @@ SubClassOf(obo:DOID_0061125 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
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SubClassOf(obo:DOID_0061125 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003593))
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SubClassOf(obo:DOID_0061125 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0002048))
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# Class: obo:DOID_0061128 (mucopolysaccharidosis X)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34916232/") obo:IAO_0000115 obo:DOID_0061128 "A mucopolysaccharidos characterized by childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061128 "MIM:619698")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061128 "ORDO:662216")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061128 "MPS10")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061128 "MSP type X")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061128 "mucopolysaccharidosis due to ARSK deficiency")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061128 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061128 "DOID:0061128")
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AnnotationAssertion(rdfs:label obo:DOID_0061128 "mucopolysaccharidosis X")
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SubClassOf(obo:DOID_0061128 obo:DOID_12798)
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SubClassOf(obo:DOID_0061128 obo:HP_0011463)
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# Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117") obo:IAO_0000115 obo:DOID_0070000 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.")

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