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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 Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 ClinVar PMID:9927029 PMID:23265383 PMID:25157968 PMID:26619011 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Rmnd1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 OMIM
ClinVar
PMID:18835491 PMID:23022098 PMID:23022099 PMID:24033266 PMID:25058219 More... NCBI chr 1:40,859,829...40,894,390
Ensembl chr 1:40,859,829...40,894,314
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Nutritional and Metabolic Diseases 6780
      disease of metabolism 6780
        mitochondrial metabolism disease 445
          combined oxidative phosphorylation deficiency 84
            combined oxidative phosphorylation deficiency 11 2
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        genetic disease 11315
          monogenic disease 8884
            autosomal genetic disease 7927
              autosomal recessive disease 4932
                combined oxidative phosphorylation deficiency 11 2
paths to the root