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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 35
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Accession:DOID:0111464 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2. (DO)
Synonyms:exact_synonym: COXPD35;   TRIT1 DEFICIENCY
 primary_id: OMIM:617873



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combined oxidative phosphorylation deficiency 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIT1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 35 | ClinVar Annotator: match by term: TRIT1 Deficiency OMIM
ClinVar
PMID:24901367 PMID:25741868 PMID:25954003 PMID:26381753 PMID:27618451 More... NCBI chr15:3,013,928...3,071,029
Ensembl chr15:3,013,666...3,071,034
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    Nutritional and Metabolic Diseases 7174
      disease of metabolism 7174
        mitochondrial metabolism disease 812
          combined oxidative phosphorylation deficiency 72
            combined oxidative phosphorylation deficiency 35 1
Path 2
Term Annotations click to browse term
  disease 17775
    Developmental Disease 17563
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17450
        genetic disease 17428
          monogenic disease 10075
            autosomal genetic disease 9277
              autosomal recessive disease 6412
                combined oxidative phosphorylation deficiency 35 1
paths to the root