Brugada syndrome 7

Preferred Label : Brugada syndrome 7;

Symbol : BRGDA7;

CISMeF acronym : BRGDA7;

Type : Phenotype, molecular basis known;

Included titles and symbols : Atrial fibrillation, familial, 16; ATFB16;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the type III voltage-gated sodium channel beta subunit gene (SCN3B, 608214.0001);

Prefixed ID : #613120;

Détails

Origin ID

613120;

UMLS CUI

C2751088;

Currated CISMeF NLP mapping
- Brugada syndrome 7 [DO Concept]
- brugada syndrome 7 [MeSH concept]
- brugada syndrome 7 [MeSH Supplementary Concept]
DO Cross reference
- Brugada syndrome 7 [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, beta subunit 3 [OMIM gene]
HPO term(s)
- Atrial flutter [HPO term]
- Autosomal dominant inheritance [HPO term]
- ST segment elevation [HPO term]
ORDO concept(s)
- Brugada syndrome [ORDO Disease]
- Familial atrial fibrillation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brugada syndrome 7 [DO Concept]
- brugada syndrome 7 [MeSH Supplementary Concept]
- brugada syndrome 7 [MeSH concept]
Validated automatic mappings to NTBT
- Brugada syndrome [ORDO Disease]

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

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