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DOID:0111273 - NARP syndrome
Disease Ontology Definition:A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6.
Synonyms: Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome, neuropathy, ataxia and retinitis pigmentosa, Neuropathy-ataxia-retinitis pigmentosa syndrome
Xenbase Genes
:
mt-atp6
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
mitochondrial metabolism disease (is_a)