Patent ductus arteriosus 3

Preferred Label : Patent ductus arteriosus 3;

Symbol : PDA3;

CISMeF acronym : PDA3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the PR domain-containing protein-6 gene (PRDM6, 616982.0001);

Prefixed ID : #617039;

Details

Origin ID

617039;

UMLS CUI

C4310753;

Genes related to phenotype
- Pr domain-containing protein 6 [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)
- Congenital Abnormality [UMLS semantic type]

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