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.
An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.
Synonyms:
exact_synonym:
Burger Grutz Syndrome; Burger-Grutz syndromes; C-II Anapolipoproteinemia; C-II anapolipoproteinemias; Essential Familial Hyperlipemia; Essential Familial Hyperlipemias; Familial Chylomicronemia; Familial Chylomicronemias; 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; Type Ia Hyperlipoproteinemias; familial chylomiconemia syndrome; familial hyperlipoproteinemia type I; hypercholesterinaemic xanthomatosis; hyperchylomicronemia; hyperlipoproteinemias type I; mixed hyperglyceridemia
ClinVar Annotator: match by OMIM:207750 ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB
ClinVar Annotator: match by term: Hyperlipoproteinemia, type I ClinVar Annotator: match by term: Hyperlipemia essential familial ClinVar Annotator: match by OMIM:238600 DNA:missense mutation:exon:p.D156G (human)
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