Disease Term Disease ID Gene Symbol References
Acrocephalopolysyndactyly type 2 C1275078 MEGF8 23063620
RAB23 24458945, 21412941, 17503333, 20358613
CARPENTER SYNDROME 2 C3554247 MEGF8 23063620
CARPENTER SYNDROME 1 C4551510 MEGF8
RAB23 21412941, 20358613, 17503333, 23599695
Carpenter syndrome 65759 MEGF8
RAB23