Terminology Service for NFDI4Health
FGFR3 Chondrodysplasia
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http://purl.obolibrary.org/obo/NCIT_C118696
A constellation of disorders involving mutations of the FGFR3 gene, which result in abnormal growth of bone and cartilage; this includes achondroplasia and hypochondroplasia. [ ]
Term info
Label
FGFR3 Chondrodysplasia
Synonyms
- FGFR3 Chondrodysplasia
Preferred Name
FGFR3 Chondrodysplasia
Semantic Type
Disease or Syndrome
UMLS CUI
C3899171
code
C118696