Brachydactyly, type e, with atrial septal defect, type II

Preferred Label : Brachydactyly, type e, with atrial septal defect, type II;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 113301;

Details

Origin ID

113301;

UMLS CUI

C1862101;

Currated CISMeF NLP mapping
- brachydactyly, type E, with atrial septal defect, type ii [MeSH concept]
- brachydactyly, type E, with atrial septal defect, type ii [MeSH Supplementary Concept]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Round face [HPO term]
- Short 4th metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short stature [HPO term]
- Type E brachydactyly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- brachydactyly, type E, with atrial septal defect, type ii [MeSH Supplementary Concept]
- brachydactyly, type E, with atrial septal defect, type ii [MeSH concept]

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