mitochondrial complex IV deficiency nuclear type 18 Disease Ontology Browser

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mitochondrial complex IV deficiency nuclear type 18 (DOID:0070503)
Alliance: disease page
Synonyms: MC4DN18
Alt IDs: OMIM:619062, UMLS_CUI:C5436720
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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