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Ontology Browser

Term:
familial GPIHBP1 deficiency (DOID:0111420)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
cholesterol-ester transfer protein deficiency +   
familial apolipoprotein A5 deficiency  
familial apolipoprotein C-II deficiency  
familial chylomicronemia due to inhibition of lipoprotein lipase activity 
familial GPIHBP1 deficiency  
A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in GPIHBP1 on chromosome 8q24.3. (DO)
Familial Hyperchylomicronemia Syndrome  
familial lipase maturation factor 1 deficiency  
familial lipoprotein lipase deficiency +   
Hyperlipoproteinemia Type II +   
hyperlipoproteinemia type III +   
hyperlipoproteinemia type IV  
hyperlipoproteinemia type V  
Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia 

Synonyms
Exact Synonyms: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency ;   hyperlipoproteinemia type 1D ;   hyperlipoproteinemia type ID
Primary IDs: OMIM:615947
Xrefs: ORDO:535458
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17883852 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23525082 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.