twist family bHLH transcription factor 1

Preferred Label : twist family bHLH transcription factor 1;

Approved symbol HGNC : TWIST1;

Name synonyms HGNC : Saethre-Chotzen syndrome;

Alias symbols HGNC : BPES2; SCS; CRS1; bHLHa38; H-twist;

Chromosome HGNC : 7p21.1;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000122691;

Details

Origin ID

HGNC:12428;

UMLS CUI

C1421244;

Automatic exact mappings (from CISMeF team)
- Saethre-Chotzen syndrome [ORDO Disease]
- Saethre-Chotzen syndrome [ICD-11 More detail]
- Saethre-Chotzen syndrome [MeSH concept]
- Saethre-Chotzen syndrome [DO Concept]
- Saethre-Chotzen syndrome (disorder) [SNOMED CT concept]
- Saethre-chotzen syndrome [OMIM Phenotype]
- Twist family bhlh transcription factor 1 [OMIM gene]
- Twist-Related Protein 1 [MeSH Descriptor]
- Type III Acrocephalosyndactyly [NCIt concept]
- acrocephalosyndactylia [MeSH Descriptor]
- saethre-chotzen syndrome [SNOMED Notion]
- twist family bHLH transcription factor 1 [ORDO Gene]
NCIt concept
- TWIST1 Gene [NCIt concept]
OMIM gene
- Twist family bhlh transcription factor 1 [OMIM gene]
Orphanet gene
- twist family bHLH transcription factor 1 [ORDO Gene]
See also inter- (CISMeF)
- Craniosynostosis 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- TWIST1 Gene [NCIt concept]
- TWIST1 gene [LOINC component]
- Twist family bhlh transcription factor 1 [OMIM gene]

Keyword's position in hierarchy(ies) :

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