C	C34345	Achondroplasia	Achondroplasia		An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhisomelic short stature, short limbs, characteristic facies wirh frontal bossing and midface hypoplasia.		C89330	Developmental Disorder	C84978	Osteochondrodysplasia	C99147	Neonatal Research Network Terminology