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DO Term : mitochondrial complex IV deficiency nuclear type 7 [DOID:0070494] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12.

synonyms:
OMIM:619051,
619051,
UMLS_CUI:C5436685,
MC4DN7

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

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