familial hypobetalipoproteinemia 1

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Summary

Literature (0)

DOID:0111062 - familial hypobetalipoproteinemia 1

Disease Ontology Definition:A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24.

Synonyms: FHBL1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: apob

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014252 - familial hypobetalipoproteinemia 1

MONDO:0014252 - familial hypobetalipoproteinemia 1

MIM:

MIM:615558 - HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1; FHBL1

MIM:615558 - HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1; FHBL1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): hypobetalipoproteinemia (is_a)