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DO Term : mitochondrial complex IV deficiency nuclear type 1 [DOID:0070491] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2.

synonyms:
UMLS_CUI:C5435656,
220110,
NCI:C176895,
MC4DN1,
OMIM:220110

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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