Terminology Service for NFDI4Health
FGFR3 Gene
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http://purl.obolibrary.org/obo/NCIT_C24393
This gene plays a role in bone development and maintenance and mutations in the gene are associated with craniosynostosis and several types of skeletal dysplasia. [ ]
Term info
Label
FGFR3 Gene
Synonyms
- FGFR3
- FGFR3 Gene
- Fibroblast Growth Factor Receptor 3 Gene
Subsets
NCIT_C116977, NCIT_C142801, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
Display Name
FGFR3 Gene
HGNC ID
HGNC:3690
Legacy Concept Name
FGFR3_Gene
Maps To
FGFR3
OMIM Number
134934
Preferred Name
FGFR3 Gene
Semantic Type
Gene or Genome
UMLS CUI
C1333543
code
C24393
Term relations
Subclass of:
- Fibroblast Growth Factor Receptor Family Gene
- Gene_Plays_Role_In_Process some Cell Differentiation Process
- Gene_Plays_Role_In_Process some Tyrosine Phosphorylation
- Gene_Plays_Role_In_Process some Ligand Binding
- Gene_Plays_Role_In_Process some Skeletal Development
- Gene_Plays_Role_In_Process some Receptor Signaling
- Gene_Associated_With_Disease some Acanthosis Nigricans
- Gene_Associated_With_Disease some Achondroplasia
- Gene_Plays_Role_In_Process some Cell Proliferation Regulatory Process