| Term Name: | familial hypobetalipoproteinemia 2 |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0111061] ( DOID:0111061 ) |