Ectrodactyly of lower limbs, congenital heart defect, and micrognathia

Preferred Label : Ectrodactyly of lower limbs, congenital heart defect, and micrognathia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive vs. new dominant mutant;

Prefixed ID : 601348;

Details

Origin ID

601348;

UMLS CUI

C1832441;

Currated CISMeF NLP mapping
- ectrodactyly of lower limbs, congenital heart defect, and micrognathia [MeSH concept]
- ectrodactyly of lower limbs, congenital heart defect, and micrognathia [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Hypoplastic right heart [HPO term]
- Micrognathia [HPO term]
- Short palpebral fissure [HPO term]
- Split foot [HPO term]
- Tetralogy of Fallot [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ectrodactyly of lower limbs, congenital heart defect, and micrognathia [MeSH Supplementary Concept]
- ectrodactyly of lower limbs, congenital heart defect, and micrognathia [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients