Trichorhinophalangeal dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Trichorhinophalangeal dysplasia type I C0432233 TRPS1 Causal Pathogenic evidence from ClinVar 10615131, 11112658, 14560312, 18946009, 22964620, 23451857, 24502542, 25792522, 26380986, 27826100, 28050602, 28170084, 28468609 ClinVar
Trichorhinophalangeal syndrome type 1 and 3 77258 TRPS1 Causal Pathogenic evidence from ClinVar - ClinVar
Trichorhinophalangeal syndrome type 2 502 TRPS1 Causal Pathogenic evidence from ClinVar - ClinVar
EXT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Trichorhinophalangeal Syndrome, Type III C1860823 TRPS1 Causal Pathogenic evidence from ClinVar 11112658, 11807863, 18946009, 22964620, 23451857, 24502542, 25792522, 27826100, 28050602, 28170084, 28468609 ClinVar