| Metadata | |
|---|---|
| ID | DOID:0111061 |
| Name | familial hypobetalipoproteinemia 2 |
| 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 |
| Xrefs | |
| Synonyms |
combined familial hypolipidemia [EXACT] FHBL2 [EXACT] |
| Parent Relationships |