Chediak-higashi syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Attenuated Chediak-Higashi syndrome
C4304022MONDO:0018133352723
LYST Unknown
23521865
Disgenet GWAS catalog
Chediak-Higashi Syndrome
167
LYST Causal
20368792
ClinVar
CHEDIAK-HIGASHI SYNDROME
214500C0007965MESH:D002609MONDO:0008963
LYST Causal
11857544 9215680 8896560 8751863 10482950 9215679 8751864
CTD ClinGen Disgenet GWAS catalog HPO
SMCHD1 Causal — Disgenet