Malignant hyperthermia, susceptibility to, 5

Preferred Label : Malignant hyperthermia, susceptibility to, 5;

Symbol : MHS5;

CISMeF acronym : MHS5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calcium channel, voltage-dependent, L type, alpha-1S subunit (CACNA1S, 114208.0004);

Prefixed ID : #601887;

Détails

Origin ID

601887;

UMLS CUI

C1866077;

Automatic exact mappings (from CISMeF team)
- CACNA1S wt Allele [NCIt concept]
- symbol withdrawn MHS5 [HGNC gene]
Broader ORDO disease(s)
- Malignant hyperthermia of anesthesia [ORDO Disease]
Genes related to phenotype
- Calcium channel, voltage-dependent, L type, alpha-1s subunit [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Fever [HPO term]
- Hypercapnia [HPO term]
- Tachycardia [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 5 [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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