Malignant hyperthermia

Disease Term Disease ID Gene Symbol Classification References Source
MALIGNANT HYPERTHERMIA
MESH:D008305
RYR1 Unknown
11695996 14570802 14708096 16917943 17707769 19191329 19191333 21485675 30329129
CTD
MALIGNANT HYPERTHERMIA OF ANESTHESIA
423MONDO:0018493
CACNA1S Causal
20301325 9175745 9199552
Orphanet
RYR1 Causal
20301325
ClinVar Orphanet
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1
MESH:C535694
RYR1 Unknown — CTD
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 5
MESH:C535698
CACNA1S Unknown — CTD
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
MONDO:0007783
RYR1 Causal — ClinGen ClinVar GenCC
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MONDO:0011163
CACNA1S Causal
11260227 15201141 19825159 20861472 22547813
ClinGen ClinVar Disgenet