# malignant hyperthermia

> genetic 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

**Wikidata**: [Q1585081](https://www.wikidata.org/wiki/Q1585081)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Malignant_hyperthermia)  
**Source**: https://4ort.xyz/entity/malignant-hyperthermia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. Klinická neurologie část speciální
5. PubMed
6. NDF-RT
7. King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196218/Orphanet_423)
9. Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. Human Phenotype Ontology release 2018-03-08
12. KBpedia
13. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)