Sideroblastic anemia with b-cell immunodeficiency

Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL SIDEROBLASTIC ANEMIA, B-CELL IMMUNODEFICIENCY, PERIODIC FEVER, DEVELOPMENTAL DELAY SYNDROME
C4707403
TRNT1 Unknown — Disgenet
CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME
369861MONDO:0014487
TRNT1 Causal
25193871 26494905 27370603
ClinGen ClinVar GWAS catalog Orphanet