3MC syndrome 1

Definition

Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.

Also known as 3MC syndrome 1, 3MC syndrome caused by mutation in MASP1, 3MC syndrome type 1, MASP1 3MC syndrome — per MONDO

Also identified as

• DOID 0060575 per MONDO
• OMIM 257920 per MONDO
• Orphanet 2506 per MONDO
• UMLS C0796059 per MONDO