Santos syndrome

Preferred Label : Santos syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : 613005;

Details

Origin ID

613005;

UMLS CUI

C2751698;

Currated CISMeF NLP mapping
- santos syndrome [MeSH concept]
- santos syndrome [MeSH Supplementary Concept]
HPO term(s)
- Anonychia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Genu valgum [HPO term]
- Metatarsus adductus [HPO term]
- Oligodactyly [HPO term]
- Polydactyly [HPO term]
- Postaxial polydactyly [HPO term]
- Preaxial polydactyly [HPO term]
- Short stature [HPO term]
- Syndactyly [HPO term]
- Talipes equinovarus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- santos syndrome [MeSH Supplementary Concept]
- santos syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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