[NTR/gene] FGFR3-related thanatophoric dysplasia

[RyanFWebb]

Preferred gene-related syndrome label
FGFR3-related thanatophoric dysplasia

Synonyms

Parent term (use OLS, or your favorite ontology browser)
skeletal dysplasia

Definition
Any thanatophoric dysplasia in which the cause of the disease is a variant in the FGFR3 gene. This includes thanatophoric dysplasia types 1 and 2.

**Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
On behalf of ClinGen's Skeletal Disorders Gene Curation Expert Panel.

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?
thanatophoric dysplasia type 1 (MONDO:0008546)
thanatophoric dysplasia type 2 (MONDO:0008547)

Your nano-attribution (ORCID) or URL for a working group
ClinGen's Skeletal Disorders Gene Curation Expert Panel