OBO ID: DOID:8545
Term Name: malignant hyperthermia Search Ontology:
Synonyms:
  • anesthesia related hyperthermia
  • malignant hyperpyrexia due to anesthesia
Definition: A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). http://en.wikipedia.org/wiki/Malignant_hyperthermia
References:
  • GARD:6964
  • ICD10CM:T88.3
  • ICD9CM:995.86
  • MESH:D008305
  • NCI:C84869
  • OMIM:PS145600
  • ORDO:423
  • SNOMEDCT_US_2023_03_01:111738008
  • UMLS_CUI:C0024591
Ontology: Human Disease   ( DOID:8545 )
Relationships
is a type of:
OTHER malignant hyperthermia PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

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