Synpolydactyly-1

Preferred Label : Synpolydactyly-1;

NCIt synonyms : Synpolydactyly 1;

NCIt definition : Synpolydactyly caused by mutations in the HOXD13 gene.;

NCI Metathesaurus CUI : CL554678;

Details

Origin ID

C75005;

UMLS CUI

C5574994;

Automatic exact mappings (from CISMeF team)
- syndactyly, type 2 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Synpolydactyly 1 [OMIM Phenotype]
DO Cross reference
- synpolydactyly [DO Concept]
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 1 [OMIM Phenotype]
- syndactyly, type 2 [MeSH Supplementary Concept]
- synpolydactyly [DO Concept]
- synpolydactyly [Disease (Nov.)]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- HOXD13 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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