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ONTOLOGY REPORT - ANNOTATIONS


Term:French Canadian Leigh disease
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Accession:DOID:0111180 term browser browse the term
Definition: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)
Synonyms:exact_synonym: 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_id: MESH:C537004
 alt_id: OMIM:220111
 xref: GARD:8370;   ICD10CM:G3L8;   ORDO:70472
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French Canadian Leigh disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrpprc leucine-rich pentatricopeptide repeat containing JBrowse link 6 7,984,043 8,066,874 RGD:7240710
RGD:8554872
RGD:11554173
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    Nutritional and Metabolic Diseases 4391
      disease of metabolism 4391
        inherited metabolic disorder 1909
          cytochrome-c oxidase deficiency disease 27
            French Canadian Leigh disease 2
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          inherited metabolic disorder 1909
            carbohydrate metabolic disorder 327
              Pyruvate Metabolism, Inborn Errors 71
                Leigh disease 56
                  French Canadian Leigh disease 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.