Atrial fibrillation, familial, 14

Preferred Label : Atrial fibrillation, familial, 14;

Symbol : ATFB14;

CISMeF acronym : ATFB14;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gene encoding the type II beta subunit of the voltage-gated sodium channel (SCN2B, 601327.0001);

Prefixed ID : #615378;

Détails

Origin ID

615378;

UMLS CUI

C3809312;

DO Cross reference
- familial atrial fibrillation [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, beta subunit 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypertension [HPO term]
- Paroxysmal atrial fibrillation [HPO term]
- Prolonged PR interval [HPO term]
- ST segment elevation [HPO term]
ORDO concept(s)
- Familial atrial fibrillation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- familial atrial fibrillation [DO Concept]

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

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