Cryohydrocytosis

Disease Term Disease ID Gene Symbol Classification References Source
CRYOHYDROCYTOSIS
185020MONDO:0008494
SLC4A1 Causal
15211439 16227998 32632909 33881640 7949112 8640229
ClinVar GWAS catalog HPO
CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY
C1837206MESH:C563840
SLC2A1 Unknown — CTD Disgenet