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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:Hypertriglyceridemia, Transient Infantile
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Accession:DOID:9001603 term browser browse the term
Synonyms:exact_synonym: HTGTI
 primary_id: OMIM:614480;   RDO:9000462
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
Hypertriglyceridemia, Transient Infantile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile OMIM
ClinVar
PMID:22226083 PMID:24549054 PMID:25741868 PMID:28492532 NCBI chr 7:130,842,526...130,851,530
Ensembl chr 7:130,844,138...130,851,529
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Nutritional and Metabolic Diseases 6817
      disease of metabolism 6817
        lipid metabolism disorder 1178
          Hypertriglyceridemia, Transient Infantile 1
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          inherited metabolic disorder 4718
            lipid metabolism disorder 1178
              Dyslipidemias 341
                familial hyperlipidemia 312
                  Hypertriglyceridemia 101
                    Hypertriglyceridemia, Transient Infantile 1
paths to the root