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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:hyperlipoproteinemia type IV
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Accession:DOID:1172 term browser browse the term
Definition:A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits.
Synonyms:exact_synonym: Familial Hyperlipoproteinemia Type 4;   Familial Type IV Hyperlipoproteinemia;   Fredrickson type IV hyperlipoproteinemia;   Fredrickson type IV lipidaemia;   Fredrickson type IV lipidemia;   Hyper prebeta lipoproteinemia;   VLDL hyperlipoproteinemia;   carbohydrate inducible hyperlipemia;   carbohydrate inducible hyperlipemias;   endogenous hyperlipidaemia;   hyperprebetalipoproteinemia;   type IV hyperlipoproteinemias
 primary_id: MESH:D006953
 alt_id: OMIM:144600;   OMIM:145750
 xref: ICD10CM:E78.1;   ICD9CM:272.1;   NCI:C34711
For additional species annotation, visit the Alliance of Genome Resources.



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hyperlipoproteinemia type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Nutritional and Metabolic Diseases 6747
      disease of metabolism 6747
        lipid metabolism disorder 1149
          familial hyperlipidemia 311
            Hyperlipoproteinemias 68
              hyperlipoproteinemia type IV 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          inherited metabolic disorder 4659
            lipid metabolism disorder 1149
              Dyslipidemias 339
                familial hyperlipidemia 311
                  Hypertriglyceridemia 101
                    hyperlipoproteinemia type IV 1
paths to the root