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FGFR2-related bent bone dysplasia

Disease Summary
Associated Targets (1)
Tclin

1


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Uniprot Description A perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia.
Mondo Term and Equivalent IDs
MONDO:0013815:  FGFR2-related bent bone dysplasia
GARD:0010965: 
Orphanet:313855: 
UMLS:C3281247: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found