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DOID:0111180 - French Canadian Leigh disease
Disease Ontology Definition:A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.
Synonyms: French Canadian type COX deficiency, French Canadian type cytochrome c oxidase deficiency, French Canadian type Leigh syndrome, mitochondrial complex IV deficiency nuclear type 5, Saguenay Lac saint Jean type COX deficiency, Saguenay Lac saint Jean type Leigh syndrome
Xenbase Genes
:
lrpprc
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee