Preaxial deficiency, postaxial polydactyly, and hypospadias

Preferred Label : Preaxial deficiency, postaxial polydactyly, and hypospadias;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Guttmacher syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homeobox A13 gene (HOXA13, 142959.0005);

Prefixed ID : #176305;

Détails

Origin ID

176305;

UMLS CUI

C1867801;

Automatic exact mappings (from CISMeF team)
- Guttmacher syndrome [DO Concept]
CISMeF manual mappings
- Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Guttmacher syndrome [Disease (Nov.)]
- Guttmacher syndrome [ORDO Disease]
- Preaxial deficiency - postaxial polydactyly - hypospadias [ICD-11 More detail]
- Preaxial deficiency, postaxial polydactyly and hypospadias [MeSH concept]
- preaxial deficiency, postaxial polydactyly and hypospadias [MeSH Supplementary Concept]
DO Cross reference
- Guttmacher syndrome [DO Concept]
Genes related to phenotype
- Homeobox a13 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Glandular hypospadias [HPO term]
- Hypoplasia of the toes [HPO term]
- Postaxial hand polydactyly [HPO term]
- Short 2nd toe [HPO term]
- Short thumb [HPO term]
ORDO concept(s)
- Guttmacher syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Guttmacher syndrome [ORDO Disease]
- Guttmacher syndrome [Disease (Nov.)]
- Guttmacher syndrome [DO Concept]
- Preaxial deficiency - postaxial polydactyly - hypospadias [ICD-11 More detail]
- Preaxial deficiency, postaxial polydactyly and hypospadias [MeSH concept]
- Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) [SNOMED CT concept]
- preaxial deficiency, postaxial polydactyly and hypospadias [MeSH Supplementary Concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients