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Add proximal renal tubular acidosis-ocular anomaly syndrome
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src/ontology/doid-edit.owl

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@@ -2229,6 +2229,7 @@ Declaration(Class(obo:DOID_0061191))
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Declaration(Class(obo:DOID_0061192))
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Declaration(Class(obo:DOID_0061193))
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Declaration(Class(obo:DOID_0061194))
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Declaration(Class(obo:DOID_0061195))
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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))
@@ -44928,6 +44929,17 @@ AnnotationAssertion(rdfs:label obo:DOID_0061194 "nephrotic syndrome type 24")
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SubClassOf(obo:DOID_0061194 obo:DOID_2590)
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SubClassOf(obo:DOID_0061194 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0061195 (proximal renal tubular acidosis-ocular anomaly syndrome)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10577919/") obo:IAO_0000115 obo:DOID_0061195 "A renal tubular transport disease characterized by a decreased renal HCO3- threshold that has_material_basis_in homozygous mutation in the SLC4A4 gene on chromosome 4q13.")
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AnnotationAssertion(oboInOwl:created_by obo:DOID_0061195 "claudiasbj")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061195 "MIM:604278")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061195 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061195 "DOID:0061195")
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AnnotationAssertion(rdfs:label obo:DOID_0061195 "proximal renal tubular acidosis-ocular anomaly syndrome")
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SubClassOf(obo:DOID_0061195 obo:DOID_14219)
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SubClassOf(obo:DOID_0061195 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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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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