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Ontology Browser

Term:
familial hypobetalipoproteinemia 1 (DOID:0111062)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
abetalipoproteinemia +   
chylomicron retention disease  
familial hypobetalipoproteinemia 1  
A hypobetalipoproteinemia that has material_basis_in mutation in the APOB gene on chromosome 2p24. (DO)
familial hypobetalipoproteinemia 2  
Familial Hypobetalipoproteinemia, Apolipoprotein B +   
Nguyen Syndrome 

Synonyms
Exact Synonyms: Acanthocytosis with Hypobetalipoproteinemia ;   FHBL1 ;   Hypobetalipoproteinemia, Normotriglyceridemic
Narrow Synonyms: Hypobetalipoproteinemia, familial, associated with apob32
Broad Synonyms: APOB-RELATED DISORDER
Primary IDs: MESH:C566267
Alternate IDs: OMIM:615558 ;   RDO:0014668
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/3399894

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