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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 OMIM:614480
ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile
OMIM
ClinVar
PMID:24549054, PMID:25741868 NCBI chr 7:141,368,928...141,377,931
Ensembl chr 7:141,370,491...141,377,928
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          Hypertriglyceridemia, Transient Infantile 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              Dyslipidemias 291
                familial hyperlipidemia 267
                  Hypertriglyceridemia 94
                    Hypertriglyceridemia, Transient Infantile 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.