Search Ontology:
Human Disease

familial hypobetalipoproteinemia 2

Term ID
DOID:0111061
Synonyms
  • combined familial hypolipidemia
  • FHBL2
Definition
A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. https://www.ncbi.nlm.nih.gov/pubmed/20942659
References
Ontology
Human Disease   ( DOID:0111061 )
Relationships
is a type of
disjoint_from
Other Pages
Genes Involved
Zebrafish Models