National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

FGFR3 Gene

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C24393

code

C24393

DEFINITION

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.

FULL_SYN

FGFR3

Fibroblast Growth Factor Receptor 3 Gene

label

FGFR3 Gene

Legacy_Concept_Name

FGFR3_Gene

OMIM_Number

134934

Preferred_Name

FGFR3 Gene

prefixIRI

C24393

prefLabel

FGFR3 Gene

Semantic_Type

Gene or Genome

UMLS_CUI

C1333543

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19930

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http://purl.bioontology.org/ontology/LNC/LP19706-8 Logical Observation Identifier Names and Codes LOOM