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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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        lipid metabolism disorder 1739
          familial hyperlipidemia 363
            Hyperlipoproteinemias 71
              hyperlipoproteinemia type IV 1
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          inherited metabolic disorder 6256
            lipid metabolism disorder 1739
              Dyslipidemias 396
                familial hyperlipidemia 363
                  Hypertriglyceridemia 124
                    hyperlipoproteinemia type IV 1
paths to the root