Preferred Label : FGFR3 wt Allele;
NCIt synonyms : Fibroblast Growth Factor Receptor 3 (Achondroplasia, Thanatophoric Dwarfism) Gene; ACH; FGFR3; HSFGFR3EX; JTK4; CEK2; Fibroblast Growth Factor Receptor 3 wt Allele; CD333; Achondroplasia, Thanatophoric Dwarfism Gene;
NCIt definition : Human FGFR3 wild-type allele is located in the vicinity of 4p16.3 and is approximately
15 kb in length. This allele, which encodes fibroblast growth factor receptor 3 protein,
is involved in mitogenesis, differentiation, and bone development and maintenance.
Alterations in the gene resulting in defects cause, achondroplasia, crouzon syndrome,
thanatophoric dysplasia, coronal synostosis, hypochondroplasia, bladder and cervix
cancers.;
GenBank Accession Number : NM_000142;
Origin ID : C51544;
UMLS CUI : C1705145;
Currated CISMeF NLP mapping
- OMIM relation
- See also inter- (CISMeF)
- Semantic type(s)
- concept_is_in_subset
- gene_associated_with_disease
- gene_found_in_organism
- gene_has_physical_location
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
