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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 V
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Accession:DOID:1171 term browser browse the term
Definition:A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I .
Synonyms:exact_synonym: Fredrickson type V lipaemia;   Hyperchylomicronemia Late Onset;   Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial;   Hyperlipemia, Combined Fat And Carbohydrate Induced;   Hyperlipoproteinemia Type 5;   Mixed Hyperlipemia;   Mixed Hyperlipemias;   Type V Hyperlipidemia;   Type V Hyperlipidemias;   familial hyperlipoproteinemia type 5;   familial hyperlipoproteinemia type V;   hyperlipoproteinemias type V;   late-onset hyperchylomicronemias
 primary_id: MESH:D006954
 alt_id: OMIM:144650
 xref: NCI:C35645
For additional species annotation, visit the Alliance of Genome Resources.



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hyperlipoproteinemia type V term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia OMIM
ClinVar
PMID:16200213 PMID:24591733 PMID:25741868 PMID:29954705 PMID:31980526 More... 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
            hyperlipoproteinemia type V 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 V 1
paths to the root