DISEASES

Disease-gene associations mined from literature

Human genes for familial hypobetalipoproteinemia 2

Familial hypobetalipoproteinemia 2 [DOID:0111061]

A hypobetalipoproteinemia that has material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31.

Synonyms:  familial hypobetalipoproteinemia 2,  DOID:0111061,  hereditary hypobetalipoproteinemia 2,  combined familial hypolipidemia,  FHBL2 ...