Synpolydactyly 2

Preferred Label : Synpolydactyly 2;

Symbol : SPD2;

CISMeF acronym : SPD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses;

Inheritance : Autosomal dominant;

Molecular basis : Caused by translocation disrupting the fibulin-1 gene (FBLN1, 135820);

Prefixed ID : #608180;

Détails

Origin ID

608180;

UMLS CUI

C1842422;

Automatic exact mappings (from CISMeF team)
- Syndactyly type 2 [ICD-11 More detail]
- Syndactyly type 2 [ORDO Disease]
- Syndactyly type 2 (disorder) [SNOMED CT concept]
- Syndactyly, type 2 [MeSH concept]
- syndactyly, type 2 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Synpolydactyly type 2 [ORDO Disease]
- synpolydactyly 2 [MeSH concept]
- synpolydactyly 2 [MeSH Supplementary Concept]
DO Cross reference
- synpolydactyly [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Carpal synostosis [HPO term]
- Metacarpal synostosis [HPO term]
- Metatarsal synostosis [HPO term]
- Polydactyly [HPO term]
- Tarsal synostosis [HPO term]
- Toe syndactyly [HPO term]
Matching ORDO disease(s)
- Syndactyly type 2 [ORDO Disease]
ORDO concept(s)
- Syndactyly type 2 [ORDO Disease]
- Synpolydactyly type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Synpolydactyly type 2 [ORDO Disease]
- synpolydactyly 2 [MeSH Supplementary Concept]
- synpolydactyly 2 [MeSH concept]

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

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