Myofibromatosis, infantile, 2

Definition

Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene.

Also known as myofibromatosis caused by mutation in NOTCH3, myofibromatosis, infantile 2, myofibromatosis, infantile, 2, myofibromatosis, infantile, type 2, NOTCH3 myofibromatosis — per MONDO

Also identified as

• DOID 0070667 per MONDO
• NCIT C176944 per MONDO
• OMIM 615293 per MONDO
• UMLS C3809084 per MONDO