Short qt syndrome 2

Preferred Label : Short qt syndrome 2;

Symbol : SQT2;

CISMeF acronym : SQT2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1, 607542.0037);

Prefixed ID : #609621;

Détails

Origin ID

609621;

UMLS CUI

C1865019;

Automatic exact mappings (from CISMeF team)
- Familial short QT syndrome [ORDO Disease]
- KCNQ1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Familial short QT syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- short QT syndrome 2 [MeSH concept]
- short QT syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- short QT syndrome [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, kqt-like subfamily, member 1 [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradycardia [HPO term]
- Shortened QT interval [HPO term]
- Sudden cardiac death [HPO term]
- Syncope [HPO term]
- Ventricular fibrillation [HPO term]
ORDO concept(s)
- Familial short QT syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- short QT syndrome 2 [MeSH Supplementary Concept]
- short QT syndrome 2 [MeSH concept]

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

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