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Summary Literature (0)
DOID:0111061 - familial hypobetalipoproteinemia 2

Disease Ontology Definition:A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31.

Synonyms: FHBL2, combined familial hypolipidemia,

Xenbase Genes : angptl3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011505 - familial hypobetalipoproteinemia 2


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): hypobetalipoproteinemia (is_a)