Disease Term Disease ID Gene Symbol Classification References Source
Pseudoachondroplasia 750, C0410538 COMP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7670471, 7670472, 9021009, 9184241, 9452026, 9452063, 9463320, 9887340, 9921895, 10852928, 11084047, 11746044, 11746045, 21922596 -
PSEUDOACHONDROPLASIA, SEVERE C4310948 COMP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -