Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2930793
Disease: Achondroplastic dwarfism
Achondroplastic dwarfism
0.010 GeneticVariation disease BEFREE The heterozygous phenotype has been likened to achondroplastic dwarfism in humans (ACH), which has recently been shown to be the result of mutations in the transmembrane region of the fibroblast growth factor receptor 3 (FGFR3) gene. 9124710 1997