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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 2
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Accession:DOID:0111483 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2. (DO)
Synonyms:exact_synonym: COXPD2;   agenesis of corpus callosum with dysmorphism and fatal lactic acidosis
 primary_id: MESH:C566468
 alt_id: OMIM:610498
 xref: ORDO:254920
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by OMIM:610498 OMIM
ClinVar
PMID:15505824 NCBI chr15:4,351,292...4,353,694
Ensembl chr15:4,351,292...4,353,694
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Anatomical Pathological Conditions 1524
        Agenesis of Corpus Callosum 142
          combined oxidative phosphorylation deficiency 2 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 2 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.