Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL PROGRESSIVE BONE MARROW FAILURE, B-CELL IMMUNODEFICIENCY, SKELETAL DYSPLASIA SYNDROME
C5567897
MYSM1 Unknown — Disgenet
CONGENITAL PROGRESSIVE BONE MARROW FAILURE-B-CELL IMMUNODEFICIENCY-SKELETAL DYSPLASIA SYNDROME
508542
MYSM1 Unknown
28115216
Orphanet