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.
A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. (DO)
Synonyms:
exact_synonym:
Burger Grutz Syndrome; Burger-Grutz syndromes; C-II Anapolipoproteinemia; C-II anapolipoproteinemias; Essential Familial Hyperlipemia; Familial Chylomicronemia; Familial Fat Induced Hypertriglyceridemia; Familial Fat-Induced Hypertriglyceridemias; Familial Hyperchylomicronemia; Familial Hyperchylomicronemias; Familial Hyperlipoproteinemia Type 1; Familial LPL Deficiencies; Familial LPL Deficiency; Fredrickson type I hyperlipoproteinemia; Fredrickson type I lipaemia; Hyperlipemia, Idiopathic, Burger-Grutz Type; Hyperlipoproteinemia Type I; Hyperlipoproteinemia Type Ia; LIPD Deficiencies; LIPD Deficiency; LPL deficiency; Lipase D Deficiencies; Lipase D Deficiency; Lipoprotein Lipase Deficiencies; Lipoprotein Lipase Deficiency; essential familial hyperlipemias; familial chylomiconemia syndrome; familial chylomicronemias; familial hyperlipoproteinemia type I; hypercholesterinaemic xanthomatosis; hyperchylomicronemia; hyperlipoproteinemias type I; hyperlipoproteinemias type Ia; mixed hyperglyceridemia
DNA:missense mutation:exon:p.D156G (human) ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I CTD Direct Evidence: marker/mechanism OMIM:238600 ClinVar Annotator: match by term: Familial Lipoprotein Lipase Deficiency | ClinVar Annotator: match by term: Familial chylomicronemia | ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I