nuclear type mitochondrial complex I deficiency 1 Disease Ontology Browser

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nuclear type mitochondrial complex I deficiency 1 (DOID:0112074)
Alliance: disease page
Synonyms: MC1DN1
Alt IDs: OMIM:252010
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2.

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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