mitochondrial complex IV deficiency nuclear type 12 Disease Ontology Browser

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mitochondrial complex IV deficiency nuclear type 12 (DOID:0070498)
Alliance: disease page
Synonyms: MC4DN12
Alt IDs: OMIM:619055, UMLS_CUI:C5436695
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2.

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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