Patent ductus arteriosus 2

Preferred Label : Patent ductus arteriosus 2;

Symbol : PDA2;

CISMeF acronym : PDA2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transcription factor AP2-beta gene (TFAP2B, 601601.0007);

Prefixed ID : #617035;

Details

Origin ID

617035;

UMLS CUI

C4284595;

Automatic exact mappings (from CISMeF team)
- protein disulfide isomerase family A member 2 [HGNC gene]
Genes related to phenotype
- Transcription factor ap2-beta [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Patent ductus arteriosus [HPO term]
ORDO concept(s)
- Familial patent arterial duct [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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