Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

malignant hyperthermia

Synonyms

malignant hyperpyrexia due to anesthesia

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. 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).

ID

http://purl.obolibrary.org/obo/DOID_8545

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

MESH:D008305

ORDO:423

SNOMEDCT_US_2022_09_01:111738008

UMLS_CUI:C0024591

ICD9CM:995.86

OMIM:PS145600

ICD10CM:T88.3

NCI:C84869

GARD:6964

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).

has exact synonym

malignant hyperpyrexia due to anesthesia

anesthesia related hyperthermia

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:8545

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

malignant hyperthermia

notation

DOID:8545

prefLabel

malignant hyperthermia

subClassOf

http://purl.obolibrary.org/obo/DOID_66

http://purl.obolibrary.org/obo/DOID_0050736

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU023121 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/MESH/D008305 Medical Subject Headings LOOM