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| Term | French Canadian Leigh disease | ID (Ontology) | DOID:0111180 (Human Disease) |
| 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. | ||
| Also Known As | "French Canadian type COX deficiency" ; "French Canadian type cytochrome c oxidase deficiency" ; "French Canadian type Leigh syndrome" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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mitochondrial metabolism disease |__cytochrome-c oxidase deficiency disease |__French Canadian Leigh disease 5 rec. |
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| Is a | cytochrome-c oxidase deficiency disease | ||
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:8370 MESH:C537004 MIM:220111 ORDO:70472 SNOMEDCT_US_2023_03_01:718219002 UMLS_CUI:C1857355 |
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