Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 31
go back to main search page
Accession:DOID:0111488 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in MIPEP on chromosome 13q12.12. (DO)
Synonyms:exact_synonym: COXPD31;   lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
 primary_id: OMIM:617228
 xref: ORDO:478049
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
combined oxidative phosphorylation deficiency 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:27799064 PMID:28492532 NCBI chr15:34,926,198...35,051,722
Ensembl chr15:34,926,207...35,051,727
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        mitochondrial metabolism disease 442
          combined oxidative phosphorylation deficiency 84
            combined oxidative phosphorylation deficiency 31 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          monogenic disease 8606
            autosomal genetic disease 7607
              autosomal recessive disease 4644
                combined oxidative phosphorylation deficiency 31 1
paths to the root