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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

MIM:605019

Synonyms

combined familial hypolipidemia [EXACT]

FHBL2 [EXACT]

Parent Relationships

is_a hypobetalipoproteinemia

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