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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 Late Onsets;   Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial;   Hyperlipemia, Combined Fat And Carbohydrate Induced;   Hyperlipoproteinemia Type 5;   Late-Onset Hyperchylomicronemias;   Mixed Hyperlipemia;   Mixed Hyperlipemias;   Type V Hyperlipidemia;   Type V Hyperlipidemias;   Type V Hyperlipoproteinemias;   familial hyperlipoproteinemia type V;   familial type 5 hyperlipoproteinemia
 primary_id: MESH:D006954;   RDO:0005846
 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 OMIM:144650 OMIM
ClinVar
PMID:16200213 NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
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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
          familial hyperlipidemia 267
            hyperlipoproteinemia type V 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
                    hyperlipoproteinemia type V 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.