Malignant hyperthermia, susceptibility to, 2

Preferred Label : Malignant hyperthermia, susceptibility to, 2;

CISMeF acronym : MHS2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : MHS2;

Description : For a phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia, see MHS1 (145600).;

Inheritance : Autosomal dominant form (unlinked to 19q13.1-q13.2); heterogeneous;

Prefixed ID : %154275;

Details

Origin ID

154275;

UMLS CUI

C2930981;

Broader ORDO disease(s)
- Malignant hyperthermia of anesthesia [ORDO Disease]
HPO term(s)
- Alcohol-induced rhabdomyolysis [HPO term]
- Anesthetic-induced rhabdomylosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Elevated blood CPK, phosphate and potassium [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise-induced rhabdomyolysis [HPO term]
- Fever [HPO term]
- Heterogeneous [HPO term]
- Hyperkalemia [HPO term]
- Hyperphosphatemia [HPO term]
- Lactic acidosis [HPO term]
- Malignant hyperthermia [HPO term]
- Myopathy [HPO term]
- Usually autosomal dominant [HPO term]
- Viral infection-induced rhabdomyolysis [HPO term]
ORDO concept(s)
- Malignant hyperthermia of anesthesia [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Malignant hyperthermia susceptibility type 2 [MeSH concept]
- malignant hyperthermia susceptibility type 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- malignant hyperthermia [DO Concept]

Keyword's position in hierarchy(ies) :

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