Carpenter syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CARPENTER SYNDROME
65759MONDO:0019012
MEGF8 Causal
23063620
Disgenet Orphanet
RAB23 Causal
17503333 21412941
GWAS catalog Orphanet
CARPENTER SYNDROME 1
C4551510201000
BAG2 Unknown — Disgenet
RAB23 Unknown — Disgenet HPO
CARPENTER SYNDROME 2
614976C3554247
MEGF8 Unknown — Disgenet HPO