Metadata | |
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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 |