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About: mitochondrial complex III deficiency nuclear type 2     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • mitochondrial complex III deficiency nuclear type 2
described by
id
  • DOID:0060351
created_by
  • elvira
creation_date
  • 2015-07-14T16:24:56Z
database_cross_reference
  • OMIM:615157
has_exact_synonym
  • MC3DN2 (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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