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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,
Echinobase Genes :
MIM:605019 - hypobetalipoproteinemia, familial, 2; fhbl2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hypobetalipoproteinemia (is_a)