mitochondrial complex V (ATP synthase) deficiency nuclear type 6 Disease Ontology Browser

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Disease Ontology Browser

mitochondrial complex V (ATP synthase) deficiency nuclear type 6 (DOID:0111749)
Alliance: disease page
Synonyms: MC5DN6
Alt IDs: OMIM:618683
Definition: A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33.

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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