Syndactyly, type iv

Preferred Label : Syndactyly, type iv;

Symbol : SDTY4;

CISMeF acronym : SDTY4; SD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polysyndactyly, haas type; SD4; Haas type syndactyly;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SHH (600725) regulatory element in the homolog of the mouse limb region 1 gene (LMBR1, 605522.0010);

Prefixed ID : #186200;

Details

Origin ID

186200;

UMLS CUI

C1861355;

Automatic exact mappings (from CISMeF team)
- Syndactyly type 4 [ICD-11 More detail]
- syndactyly type 4 [DO Concept]
Currated CISMeF NLP mapping
- Syndactyly type 4 [ORDO Disease]
- Syndactyly type 4 (disorder) [SNOMED CT concept]
- syndactyly, type IV [MeSH concept]
- syndactyly, type IV [MeSH Supplementary Concept]
DO Cross reference
- syndactyly type 4 [DO Concept]
Genes related to phenotype
- Limb development membrane protein 1 [OMIM gene]
HPO term(s)
- 1-5 finger complete cutaneous syndactyly [HPO term]
- 1-5 finger syndactyly [HPO term]
- 2-3 toe syndactyly [HPO term]
- 6 metacarpals [HPO term]
- Autosomal dominant inheritance [HPO term]
- Polydactyly [HPO term]
- Postaxial polydactyly [HPO term]
- Pre- or postaxial polydactyly [HPO term]
- Supernumerary metacarpal bones [HPO term]
- Triphalangeal thumb [HPO term]
ORDO concept(s)
- Syndactyly type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Syndactyly type 4 [ORDO Disease]
- Syndactyly type 4 (disorder) [SNOMED CT concept]
- syndactyly type 4 [DO Concept]
- syndactyly, type IV [MeSH Supplementary Concept]
- syndactyly, type IV [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients