fibroblast growth factor receptor 1

Preferred Label : fibroblast growth factor receptor 1;

Approved symbol HGNC : FGFR1;

Name synonyms HGNC : Pfeiffer syndrome;

Alias symbols HGNC : FLG; N-SAM; CEK; H2; H3; H4; H5; BFGFR; CD331;

Chromosome HGNC : 8p11.23;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000077782;

Details

Origin ID

HGNC:3688;

UMLS CUI

C0919509;

Automatic exact mappings (from CISMeF team)
- Acrocephalosyndactyly type V (disorder) [SNOMED CT concept]
- Fibroblast Growth Factor Receptor 1 [NCIt concept]
- Fibroblast growth factor receptor 1 [OMIM gene]
- Filaggrin [OMIM gene]
- Pfeiffer syndrome [OMIM Phenotype]
- Pfeiffer syndrome [MedDRA Preferred Term]
- Pfeiffer syndrome [ORDO Disease]
- Pfeiffer syndrome [ICD-11 Sub-sub category]
- Pfeiffer syndrome [PASCAL descriptor]
- Pfeiffer syndrome [DO Concept]
- Type V Acrocephalosyndactyly [NCIt concept]
- acrocephalosyndactylia [MeSH Descriptor]
- fibroblast growth factor receptor 1 [ORDO Gene]
- fibroblast growth factor receptor 2 [ORDO Gene]
- pfeiffer syndrome [MeSH concept]
- pfeiffer syndrome [SNOMED Notion]
- receptor, fibroblast growth factor, type 1 [MeSH Descriptor]
NCIt concept
- FGFR1 Gene [NCIt concept]
OMIM gene
- Fibroblast growth factor receptor 1 [OMIM gene]
Orphanet gene
- fibroblast growth factor receptor 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- FGFR1 Gene [NCIt concept]
- FGFR1 gene [LOINC component]
- Fibroblast growth factor receptor 1 [OMIM gene]

Keyword's position in hierarchy(ies) :

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