Fibroblast growth factor receptor 3

Preferred Label : Fibroblast growth factor receptor 3;

Symbol : FGFR3;

CISMeF acronym : FGFR3;

Type : Gene;

Included titles and symbols : Fgfr3/tacc3 fusion gene;

Ensembl ID : ENSG00000068078;

Prefixed ID : *134934;

Details

Origin ID

134934;

UMLS CUI

C1333543;

Automatic exact mappings (from CISMeF team)
- FGFR3 Gene [NCIt concept]
- FGFR3 gene [LOINC component]
- FGFR3 wt Allele [NCIt concept]
- Fibroblast Growth Factor Receptor 3 [NCIt concept]
- fibroblast growth factor receptor 3 [ORDO Gene]
- fibroblast growth factor receptor 3 [HGNC gene]
- receptor, fibroblast growth factor, type 3 [MeSH Descriptor]
HGNC gene
- fibroblast growth factor receptor 3 [HGNC gene]
NCIt concept(s)
- FGFR3 Gene [NCIt concept]
- FGFR3 wt Allele [NCIt concept]
- Fibroblast Growth Factor Receptor 3 [NCIt concept]
ORDO concept(s)
- fibroblast growth factor receptor 3 [ORDO Gene]
Phenotypes related
- Achondroplasia [OMIM Phenotype]
- Achondroplasia, severe, with developmental delay and acanthosis nigricans [OMIM Phenotype]
- Bladder cancer [OMIM Phenotype]
- Camptodactyly, tall stature, and hearing loss syndrome [OMIM Phenotype]
- Cervical cancer [OMIM Phenotype]
- Colorectal cancer [OMIM Phenotype]
- Crouzon syndrome with acanthosis nigricans [OMIM Phenotype]
- Hypochondroplasia [OMIM Phenotype]
- Lacrimoauriculodentodigital syndrome 2 [OMIM Phenotype]
- Muenke syndrome [OMIM Phenotype]
- Nevus, epidermal [OMIM Phenotype]
- Testicular germ cell tumor [OMIM Phenotype]
- Thanatophoric dysplasia, type I [OMIM Phenotype]
- Thanatophoric dysplasia, type II [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- FGFR3 Gene [NCIt concept]
- FGFR3 gene [LOINC component]
- fibroblast growth factor receptor 3 [HGNC gene]

Keyword's position in hierarchy(ies) :

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