Weyers acrofacial dysostosis

Preferred Label : Weyers acrofacial dysostosis;

Symbol : WAD;

CISMeF acronym : WAD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Curry-hall syndrome; Acrodental dysostosis of weyers;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the limbin gene (EVC2, 607261.0009); Caused by mutation in the EVC gene (EVC, 604831.0006);

Prefixed ID : #193530;

Détails

Origin ID

193530;

UMLS CUI

C0457013;

Automatic exact mappings (from CISMeF team)
- Acrofacial dysostosis, Weyers type [ICD-11 More detail]
- Weyers acrofacial dysostosis [DO Concept]
Currated CISMeF NLP mapping
- Acrofacial dysostosis, Weyers type [ORDO Disease]
- Curry-Hall syndrome (disorder) [SNOMED CT concept]
- Weyers acrofacial dysostosis [MeSH concept]
- weyers acrofacial dysostosis [MeSH Supplementary Concept]
DO Cross reference
- Weyers acrofacial dysostosis [DO Concept]
Genes related to phenotype
- Evc ciliary complex subunit 1 [OMIM gene]
- Evc ciliary complex subunit 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Conical tooth [HPO term]
- Hypotelorism [HPO term]
- Mild brachydactyly [HPO term]
- Mild short stature [HPO term]
- Nail dysplasia [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Prominent antihelix [HPO term]
- Short palm [HPO term]
- Small nail [HPO term]
- Solitary median maxillary central incisor [HPO term]
ORDO concept(s)
- Acrofacial dysostosis, Weyers type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrofacial dysostosis, Weyers type [ORDO Disease]
- Curry-Hall syndrome (disorder) [SNOMED CT concept]
- Weyers acrofacial dysostosis [MeSH concept]
- Weyers acrofacial dysostosis [DO Concept]
- weyers acrofacial dysostosis [MeSH Supplementary Concept]

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

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