malignant hyperthermia, susceptibility to, 1

Go to external page 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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C535694 (MONDO:equivalentTo)
  • OMIM:145600 (MONDO:equivalentTo)
  • UMLS:CN031421 (NCBI:mim2gene_medline)
  • GARD:0003363 (MONDO:equivalentTo)
  • EFO:0009071 (MONDO:equivalentTo)
Subsets

gard_rare, predisposition

abbreviation
MHS [ https://omim.org/entry/145600 MESH:C535694 GARD:0003363 ]

abbreviation
MHS1 [ MONDO:Lexical MESH:C535694 https://omim.org/entry/145600 GARD:0003363 ]

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene.

exactMatch

http://identifiers.org/omim/145600

http://linkedlifedata.com/resource/umls/id/CN031421

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 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

MHS

King syndrome

MHS1

malignant hyperthermia susceptibility type 1

id

MONDO:0007783

seeAlso

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