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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:combined oxidative phosphorylation deficiency 11
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Accession:DOID:0111481 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in RMND1 on chromosome 6q25.1. (DO)
Synonyms:exact_synonym: COXPD11;   infantile encephaloneuromyopathy, due to mitochondrial translation defect
 primary_id: OMIM:614922
 xref: ORDO:324535
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rmnd1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614922
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11
OMIM
ClinVar
PMID:18835491, PMID:23022098, PMID:23022099, PMID:24033266, PMID:25058219, PMID:25326635, PMID:25604853, PMID:25741868, PMID:26238252, PMID:26395190, PMID:27159321, PMID:27350610, PMID:27412952, PMID:27843092, PMID:32576985 NCBI chr 1:40,948,843...40,982,669
Ensembl chr 1:40,948,847...40,972,826
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        mitochondrial metabolism disease 333
          combined oxidative phosphorylation deficiency 52
            combined oxidative phosphorylation deficiency 11 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                combined oxidative phosphorylation deficiency 11 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.