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Add mitochondrial axonal Charcot-Marie-Tooth disease
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src/ontology/doid-edit.owl

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@@ -2199,6 +2199,7 @@ Declaration(Class(obo:DOID_0061164))
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Declaration(Class(obo:DOID_0061165))
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Declaration(Class(obo:DOID_0061166))
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Declaration(Class(obo:DOID_0061167))
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Declaration(Class(obo:DOID_0061168))
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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))
@@ -44517,6 +44518,15 @@ AnnotationAssertion(rdfs:label obo:DOID_0061167 "autosomal recessive proximal re
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SubClassOf(obo:DOID_0061167 obo:DOID_14219)
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SubClassOf(obo:DOID_0061167 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0061168 (mitochondrial axonal Charcot-Marie-Tooth disease)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32715519/") obo:IAO_0000115 obo:DOID_0061168 "A Charcot-Marie-Tooth disease characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur that has_material_basis_in mutation in the MTTV gene, which is encoded by the mitochondrial genome.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061168 "MIM:500013")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061168 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061168 "DOID:0061168")
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AnnotationAssertion(rdfs:label obo:DOID_0061168 "mitochondrial axonal Charcot-Marie-Tooth disease")
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SubClassOf(obo:DOID_0061168 obo:DOID_10595)
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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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