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Metadata
ID DOID:0070496
Name mitochondrial complex IV deficiency nuclear type 10
Definition A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12.
https://pubmed.ncbi.nlm.nih.gov/22243966/
Xrefs

MIM:619053

UMLS_CUI:C5436692

SKOS

exactMatch MIM:619053

exactMatch UMLS_CUI:C5436692

Synonyms

MC4DN10 [EXACT]

Parent Relationships

is_a COX deficiency, benign infantile mitochondrial myopathy

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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