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Namespace Prefixes

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owl	http://www.w3.org/2002/07/owl#
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Statements

Subject Item

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n5:ECO_0007645 n5:ECO_0007636

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n5:IAO_0000115

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A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.

obo:hasDbXref

url:http://www.omim.org/entry/615157 url:https://www.ncbi.nlm.nih.gov/pubmed/21278747