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French Canadian Leigh disease (DOID:0111180)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
CoQ-Responsive OXPHOS Deficiency 
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency +   
French Canadian Leigh disease  
A Leigh disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of leasions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. (DO)
Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 
Leigh Syndrome Due To Mitochondrial Complex I Deficiency  
Leigh Syndrome due to Mitochondrial Complex II Deficiency  
Leigh Syndrome due to Mitochondrial Complex III Deficiency  
Leigh Syndrome due to Mitochondrial Complex IV Deficiency  
Leigh Syndrome due to Mitochondrial Complex V Deficiency 
Leigh Syndrome, X-Linked  
Lipoyltransferase 1 Deficiency  
Maternally Inherited Leigh Syndrome  
Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult 
Necrotizing Encephalopathy, Infantile Subacute, of Leigh 

Exact Synonyms: Cox deficiency, French Canadian type ;   Cox deficiency, Saguenay Lac saint Jean type ;   Cytochrome c oxidase deficiency, French Canadian type ;   LSFC ;   Leigh syndrome, French Canadian type ;   Leigh syndrome, Saguenay Lac Saint Jean type
Primary IDs: MESH:C537004
Alternate IDs: OMIM:220111
Xrefs: GARD:8370 ;   ICD10CM:G3L8 ;   ORDO:70472
Definition Sources:,

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