has material basis in germline mutation in FGFR3 autosomal genetic disease camptodactyly-tall stature-scoliosis-hearing loss syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/camptodactyly_tall_stature_and_hearing_loss_syndrome https://www.malacards.org/card/camptodactyly_tall_stature_scoliosis_hearing_loss_syndrome OMIM:610474 MESH:C537975 GARD:0010012 Orphanet:85164 CATSHL syndrome MEDGEN:355844 MONDO:0012504 Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. DOID:0111160 UMLS:C1864852 CATSHLS FGFR3-related chondrodysplasia