Myofibromatosis

Disease Term Disease ID Gene Symbol Classification References Source
MYOFIBROMATOSIS, INFANTILE, 1
C4551572228550MONDO:0009227
NOTCH3 Causal — Disgenet
PDGFRB Causal
23731537 28334876 30200486
ClinVar Disgenet GenCC HPO
MYOFIBROMATOSIS, INFANTILE, 2
615293C3809084MONDO:0014122
NOTCH3 Causal
23731542 33509954
ClinVar Disgenet HPO
PDGFRB Unknown — Disgenet