FGFR3 Chondrodysplasia

Preferred Label : FGFR3 Chondrodysplasia;

NCIt definition : A constellation of disorders involving mutations of the FGFR3 gene, which result in abnormal growth of bone and cartilage; this includes achondroplasia and hypochondroplasia.;

Details

Origin ID

C118696;

UMLS CUI

C3899171;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- FGFR3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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