Synpolydactyly 1

Preferred Label : Synpolydactyly 1;

Symbol : SPD1;

CISMeF acronym : SDTY2; SPD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Syndactyly, type II; SDTY2;

Description : Synpolydactyly, or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by Merlob and Grunebaum, 1986).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homeobox D13 gene (HOXD13, 142989.0001);

Prefixed ID : #186000;

Détails

Origin ID

186000;

UMLS CUI

C5574994;

Automatic exact mappings (from CISMeF team)
- syndactyly, type 2 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Synpolydactyly type 1 [ORDO Disease]
- Synpolydactyly-1 [NCIt concept]
DO Cross reference
- synpolydactyly [DO Concept]
Genes related to phenotype
- Homeobox d13 [OMIM gene]
HPO term(s)
- 2nd-5th toe middle phalangeal hypoplasia [HPO term]
- 3-4 finger syndactyly [HPO term]
- 4-5 toe syndactyly [HPO term]
- 5th finger camptodactyly [HPO term]
- 6 metacarpals [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Contracture of the proximal interphalangeal joint of the 5th finger [HPO term]
- Finger syndactyly [HPO term]
- Mesoaxial hand polydactyly [HPO term]
- Postaxial foot polydactyly [HPO term]
- Preaxial foot polydactyly [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Y-shaped metacarpals [HPO term]
Not associated HPO term(s)
- Abnormality of the tarsal bones [HPO term]
ORDO concept(s)
- Syndactyly type 2 [ORDO Disease]
- Synpolydactyly type 1 [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Syndactyly type 2 [ORDO Disease]
- Syndactyly type 2 (disorder) [SNOMED CT concept]
- Syndactyly, type 2 [MeSH concept]
- Synpolydactyly [NCIt concept]
- Synpolydactyly-1 [NCIt concept]
- syndactyly, type 2 [MeSH Supplementary Concept]
- synpolydactyly [DO Concept]
- synpolydactyly [Disease (Nov.)]

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