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 ...