Familial hypobetalipoproteinemia 1

Definition

Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.

Also known as APOB hypobetalipoproteinemia, familial hypobetalipoproteinemia 1, familial hypobetalipoproteinemia type 1, FHBL1, hypobetalipoproteinemia caused by mutation in APOB, hypobetalipoproteinemia, familial, type 1 — per MONDO

Also identified as

• DOID 0111062 per MONDO
• MESH C566267 per MONDO
• OMIM 615558 per MONDO
• SCTID 60193003 per MONDO
• UMLS C4551990 per MONDO