Mosaic variegated aneuploidy syndrome 1

Definition

Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.

Also known as BUB1B mosaic variegated aneuploidy syndrome, mosaic variegated aneuploidy syndrome 1, mosaic variegated aneuploidy syndrome caused by mutation in BUB1B, Mosaic variegated aneuploidy syndrome type 1 — per MONDO

Also identified as

• DOID 0080141 per MONDO
• NCIT C128192 per MONDO
• OMIM 257300 per MONDO
• UMLS C1850343 per MONDO