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malignant hyperthermia, susceptibility to, 5

^ http://purl.obolibrary.org/obo/MONDO_0011163

Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • OMIM:601887 (MONDO:equivalentTo)
  • MESH:C535698 (MONDO:equivalentTo)
  • GARD:0003367 (MONDO:equivalentTo)
Subsets

gard_rare, predisposition

abbreviation
MHS5 [ GARD:0003367 MESH:C535698 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4882, https://github.com/monarch-initiative/mondo/issues/4521

definition

Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene.

exactMatch

http://identifiers.org/mesh/C535698, https://omim.org/entry/601887

has exact synonym

CACNA1S malignant hyperthermia of anesthesia, malignant hyperthermia, susceptibility to, 5, malignant hyperthermia susceptibility 5, malignant hyperthermia, susceptibility to, type 5, malignant hyperthermia of anesthesia caused by mutation in CACNA1S

has related synonym

susceptibility to malignant hyperthermia 5, Mhs5, MHS5, malignant hyperthermia susceptibility type 5, malignant hyperpyrexia susceptibility type 5

id

MONDO:0011163

seeAlso

https://rarediseases.info.nih.gov/diseases/3367/malignant-hyperthermia-susceptibility-type-5