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malignant hyperthermia, susceptibility to, 1

^ http://purl.obolibrary.org/obo/MONDO_0007783

Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • GARD:0003363 (MONDO:equivalentTo)
  • OMIM:145600 (MONDO:equivalentTo)
  • UMLS:CN031421 (MONDO:ncbi_mim2gene_medline)
  • Orphanet:99741 (OMIM:145600)
  • EFO:0009071 (MONDO:equivalentTo)
  • MESH:C535694 (MONDO:equivalentTo)
Subsets

gard_rare, predisposition

abbreviation
MHS1 [ OMIM:145600 GARD:0003363 MONDO:Lexical MESH:C535694 ]

abbreviation
MHS [ OMIM:145600 GARD:0003363 MESH:C535694 ]

IAO 0000233

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 RYR1 gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN031421, https://omim.org/entry/145600, http://identifiers.org/mesh/C535694

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018493

has exact synonym

malignant hyperthermia of anesthesia caused by mutation in RYR1, malignant hyperthermia susceptibility 1, malignant hyperthermia, susceptibility to, 1, malignant hyperthermia, susceptibility to, type 1, RYR1 malignant hyperthermia of anesthesia

has related synonym

King-Denborough syndrome, included, hyperthermia of anesthesia, hyperpyrexia, malignant;MH KING syndrome, included, susceptibility to malignant hyperthermia 1, King-Denborough syndrome, hyperpyrexia, malignant, King syndrome, MHS, MHS1, malignant hyperthermia susceptibility type 1

id

MONDO:0007783

seeAlso

https://rarediseases.info.nih.gov/diseases/3363/malignant-hyperthermia-susceptibility-type-1