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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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, Saguenay Lac Saint Jean type;   Cox deficiency, French Canadian type;   LSFC;   Leigh syndrome, French Canadian type;   Leigh syndrome, Saguenay Lac Saint Jean type;   MC4DN5;   cytochrome c oxidase deficiency, French Canadian type;   mitochondrial complex IV deficiency nuclear type 5;   mitochondrial complex IV deficiency nuclear type 5 (French-Canadian)
 primary_id: MESH:C537004
 alt_id: OMIM:220111
 xref: GARD:8370;   ORDO:70472
For additional species annotation, visit the Alliance of Genome Resources.


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French Canadian Leigh disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by OMIM:220111
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leigh syndrome, French Canadian type
ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
OMIM
ClinVar
CTD
PMID:12529507 PMID:15139850 PMID:16199547 PMID:17050673 PMID:18414213 PMID:20200222 PMID:21266382 PMID:21437181 PMID:22494076 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26510951 PMID:26741492 PMID:27408822 PMID:27574110 PMID:28492532 PMID:29152527 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Nutritional and Metabolic Diseases 5527
      disease of metabolism 5527
        inherited metabolic disorder 2615
          cytochrome-c oxidase deficiency disease 31
            French Canadian Leigh disease 2
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          inherited metabolic disorder 2615
            carbohydrate metabolic disorder 525
              Pyruvate Metabolism, Inborn Errors 81
                Leigh disease 60
                  French Canadian Leigh disease 2
paths to the root