Long qt syndrome 10

Preferred Label : Long qt syndrome 10;

Symbol : LQT10;

CISMeF acronym : ATFB17; LQT10;

Type : Phenotype, molecular basis known;

Included titles and symbols : Atrial fibrillation, familial, 17; ATFB17;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the type IV voltage-gated sodium channel beta subunit gene (SCN4B, 608256.0001);

Prefixed ID : #611819;

Détails

Origin ID

611819;

UMLS CUI

C2678484;

Automatic exact mappings (from CISMeF team)
- sodium voltage-gated channel beta subunit 4 [ORDO Gene]
- sodium voltage-gated channel beta subunit 4 [HGNC gene]
Broader ORDO disease(s)
- Familial long QT syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- long QT syndrome 10 [DO Concept]
- long qt syndrome 10 [MeSH concept]
- long qt syndrome 10 [MeSH Supplementary Concept]
DO Cross reference
- long QT syndrome 10 [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, beta subunit 4 [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Atrioventricular block [HPO term]
- Autosomal dominant inheritance [HPO term]
- Prolonged QT interval [HPO term]
- Sudden cardiac death [HPO term]
- T-wave alternans [HPO term]
ORDO concept(s)
- Familial atrial fibrillation [ORDO Disease]
- Familial long QT syndrome [ORDO Disease]
- Romano-Ward syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- long QT syndrome 10 [DO Concept]
- long qt syndrome 10 [MeSH Supplementary Concept]
- long qt syndrome 10 [MeSH concept]
Validated automatic mappings to NTBT
- Familial long QT syndrome [ORDO Disease]

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