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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:Mitochondrial Phosphate Carrier Deficiency
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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.


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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 7:25,611,937...25,619,401 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Nutritional and Metabolic Diseases 5534
      disease of metabolism 5534
        mitochondrial metabolism disease 394
          Mitochondrial Phosphate Carrier Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          inherited metabolic disorder 2619
            mitochondrial metabolism disease 394
              Mitochondrial Phosphate Carrier Deficiency 1
paths to the root