Atrioventricular septal defect 3

Preferred Label : Atrioventricular septal defect 3;

Obsolete resource : true;

Moved to : 606215;

Symbol : AVSD3;

CISMeF acronym : AVSD3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant with variable expression and incomplete penetrance;

Prefixed ID : 600309;

Details

Origin ID

600309;

UMLS CUI

C3275750;

Automatic exact mappings (from CISMeF team)
- GJA1 wt Allele [NCIt concept]
DO Cross reference
- atrioventricular septal defect [DO Concept]
HPO term(s)
- Atrioventricular canal defect [HPO term]
- Atrioventricular septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal dominant with variable expression and incomplete penetrance [HPO term]
- Congestive heart failure [HPO term]
- Cyanosis [HPO term]
- First degree atrioventricular block [HPO term]
- Heart block [HPO term]
- Hypertension [HPO term]
- Inlet ventricular septal defect [HPO term]
- Midsystolic murmur [HPO term]
- Primum atrial septal defect [HPO term]
- Pulmonary arterial hypertension [HPO term]
ORDO concept(s)
- Atrioventricular septal defect [ORDO Disease]
Related ORDO disease(s)
- Complete atrioventricular septal defect [ORDO Disease]
- Partial atrioventricular septal defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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