Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
familial hypobetalipoproteinemia 2 (DOID:0111061)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
abetalipoproteinemia +   
chylomicron retention disease  
familial hypobetalipoproteinemia 1  
familial hypobetalipoproteinemia 2  
A hypobetalipoproteinemia that has material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. (DO)
Familial Hypobetalipoproteinemia, Apolipoprotein B +   
Nguyen Syndrome 

Synonyms
Exact Synonyms: Fhbl2 ;   HYPOLIPIDEMIA, FAMILIAL, COMBINED
Primary IDs: MESH:C565732
Alternate IDs: OMIM:605019 ;   RDO:0014290
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/20942659

paths to the root

NHLBI Logo

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