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DO Term : mitochondrial complex IV deficiency nuclear type 8 [DOID:0070495] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3.
  • synonyms:
  • UMLS_CUI:C5436689,
  • OMIM:619052,
  • 619052,
  • MC4DN8
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents