Syndactyly, type V

Preferred Label : Syndactyly, type V;

Symbol : SDTY5;

CISMeF acronym : SDTY5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Syndactyly with metacarpal and metatarsal fusion;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homeobox D13 gene (HOXD13, 142989.0008).;

Prefixed ID : #186300;

Détails

Origin ID

186300;

UMLS CUI

C1861348;

Currated CISMeF NLP mapping
- Syndactyly type 5 [ICD-11 More detail]
- Syndactyly type 5 [ORDO Disease]
- Syndactyly type 5 (disorder) [SNOMED CT concept]
- Syndactyly, type v [MeSH concept]
- syndactyly type 5 [DO Concept]
- syndactyly, type v [MeSH Supplementary Concept]
DO Cross reference
- syndactyly type 5 [DO Concept]
Genes related to phenotype
- Homeobox d13 [OMIM gene]
HPO term(s)
- 2-3 or 4-5 toe syndactyly [HPO term]
- 3-4 toe syndactyly [HPO term]
- 4-5 metacarpal synostosis [HPO term]
- 4-5 toe syndactyly [HPO term]
- Absent distal interphalangeal creases [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Camptodactyly of finger [HPO term]
- Carpal synostosis [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Enlarged proximal interphalangeal joints [HPO term]
- Joint contracture of the hand [HPO term]
- Short distal phalanx of finger [HPO term]
ORDO concept(s)
- Syndactyly type 5 [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Syndactyly type 5 [ORDO Disease]
- Syndactyly type 5 (disorder) [SNOMED CT concept]
- Syndactyly, type v [MeSH concept]
- syndactyly type 5 [DO Concept]
- syndactyly, type v [MeSH Supplementary Concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients