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:Mitochondrial Phosphate Carrier Deficiency
go back to main search page
Accession:DOID:9006387 term browser browse the term
Synonyms:exact_synonym: MPCD;   neonatal hypertrophic cardiomyopathy, respiratory insufficiency, hypotonia, and lactic acidosis
 primary_id: MESH:C563665
 alt_id: OMIM:610773
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Mitochondrial Phosphate Carrier Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a3 solute carrier family 25 member 3 ISO ClinVar Annotator: match by OMIM:610773
ClinVar Annotator: match by term: Mitochondrial phosphate carrier deficiency
OMIM
ClinVar
PMID:17273968 PMID:21763135 PMID:25681081 PMID:25741868 PMID:28492532 NCBI chr 7:31,816,601...31,824,064
Ensembl chr 7:31,816,602...31,824,071
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Nutritional and Metabolic Diseases 5527
      disease of metabolism 5527
        mitochondrial metabolism disease 392
          Mitochondrial Phosphate Carrier Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          inherited metabolic disorder 2615
            mitochondrial metabolism disease 392
              Mitochondrial Phosphate Carrier Deficiency 1
paths to the root