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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 the RMND1 gene on chromosome 6q25.1. (DO)
Synonyms:exact_synonym: COXPD11;   infantile encephaloneuromyopathy, due to mitochondrial translation defect
 primary_id: OMIM:614922
 xref: ORDO:324535

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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 term: Combined oxidative phosphorylation deficiency 11 OMIM
ClinVar		 PMID:18835491 PMID:23022098 PMID:23022099 PMID:24033266 PMID:25058219 More... NCBI chrNW_004936489:4,299,810...4,343,996
Ensembl chrNW_004936489:4,298,328...4,343,969 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 ClinVar PMID:12826609 PMID:23265383 PMID:26619011 PMID:28492532 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        mitochondrial metabolism disease 772
          combined oxidative phosphorylation deficiency 73
            combined oxidative phosphorylation deficiency 11 2
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal recessive disease 6218
                combined oxidative phosphorylation deficiency 11 2
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