familial hypobetalipoproteinemia 1 (MONDO_0014252, a Monarch Disease Ontology identifier) can be described as follows. Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene. Also known as: APOB hypobetalipoproteinemia, FHBL1, familial hypobetalipoproteinemia type 1, hypobetalipoproteinemia caused by mutation in APOB, hypobetalipoproteinemia, familial, type 1.