Term Name: | familial hypobetalipoproteinemia 2 |
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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 ) |