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lschriml
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added POLG synonym
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src/ontology/doid-edit.owl

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@@ -54003,7 +54003,7 @@ SubClassOf(obo:DOID_0080121 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
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# Class: obo:DOID_0080122 (Alpers-Huttenlocher syndrome)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome") Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30103161") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30451971") obo:IAO_0000115 obo:DOID_0080122 "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome") Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30103161") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30451971") obo:IAO_0000115 obo:DOID_0080122 "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26.")
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AnnotationAssertion(oboInOwl:hasAlternativeId obo:DOID_0080122 "DOID:1442")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080122 "GARD:5783")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080122 "ICD10CM:G31.81")
@@ -54021,6 +54021,7 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080122 "Alpers' disease o
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080122 "Diffuse Cerebral Sclerosis of Schilder")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080122 "mitochondrial DNA depletion syndrome 4a")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080122 "progressive sclerosing poliodystrophy")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080122 "Polg disease")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080122 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0080122 "DOID:0080122")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_0080122 doid:DO_rare_slim)

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