Exostoses with anetodermia and brachydactyly, type e

Preferred Label : Exostoses with anetodermia and brachydactyly, type e;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 133690;

Détails

Origin ID

133690;

UMLS CUI

C1851428;

Automatic exact mappings (from CISMeF team)
- Exostoses with anetodermia and brachydactyly type E [ICD-11 Sub-sub category]
Currated CISMeF NLP mapping
- Exostoses-anetodermia-brachydactyly type E syndrome [ORDO Disease]
- exostoses with anetodermia and brachydactyly, type E [MeSH concept]
- exostoses with anetodermia and brachydactyly, type E [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dermal atrophy [HPO term]
- Multiple exostoses [HPO term]
- Type E brachydactyly [HPO term]
ORDO concept(s)
- Exostoses-anetodermia-brachydactyly type E syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Exostoses-anetodermia-brachydactyly type E syndrome [ORDO Disease]
- exostoses with anetodermia and brachydactyly, type E [MeSH Supplementary Concept]
- exostoses with anetodermia and brachydactyly, type E [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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