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Metadata
ID DOID:0070497
Name mitochondrial complex IV deficiency nuclear type 11
Definition A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44.
https://pubmed.ncbi.nlm.nih.gov/33751098/, https://pubmed.ncbi.nlm.nih.gov/24202787/
Xrefs

MIM:619054

UMLS_CUI:C5436694

SKOS

exactMatch UMLS_CUI:C5436694

exactMatch MIM:619054

Synonyms

MC4DN11 [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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