Atrial standstill 2

Preferred Label : Atrial standstill 2;

Symbol : ATRST2;

CISMeF acronym : ATRST2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Atrial dilation and standstill; Cardiomyopathy, atrial dilated, with atrial standstill;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the natriuretic peptide precursor-A gene (NPPA, 108780.0003);

Prefixed ID : #615745;

Détails

Origin ID

615745;

UMLS CUI

C3810401;

Automatic exact mappings (from CISMeF team)
- NPPA wt Allele [NCIt concept]
- atrial standstill 2 [DO Concept]
DO Cross reference
- atrial standstill 2 [DO Concept]
Genes related to phenotype
- Natriuretic peptide precursor a [OMIM gene]
HPO term(s)
- Absent P wave [HPO term]
- Atrial arrhythmia [HPO term]
- Atrial cardiomyopathy [HPO term]
- Atrial standstill [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradycardia [HPO term]
- Cardiomyopathy [HPO term]
- Dilatation of the ventricular cavity [HPO term]
- Dyspnea [HPO term]
- Hyperpepsinogenemia I [HPO term]
- Palpitations [HPO term]
- Scarring [HPO term]
- Stroke [HPO term]
- Vascular dilatation [HPO term]
ORDO concept(s)
- Atrial standstill [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Atrial standstill [ORDO Disease]

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

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