Disease Term Disease ID Gene Symbol Classification References Source
TRICHORHINOPHALANGEAL DYSPLASIA TYPE I TRPS1 Causal ClinVar Disgenet
TRICHORHINOPHALANGEAL SYNDROME TRPS1 Causal Disgenet
TRICHORHINOPHALANGEAL SYNDROME TYPE 1 TRPS1 Unknown Disgenet Orphanet
TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3 TRPS1 Causal Disgenet
TRICHORHINOPHALANGEAL SYNDROME TYPE 2
502
EXT1 Unknown Orphanet
RAD21 Unknown Orphanet
TRPS1 Unknown Orphanet
TRICHORHINOPHALANGEAL SYNDROME TYPE I TRPS1 Unknown GWAS catalog
TRICHORHINOPHALANGEAL SYNDROME TYPE I OR III TRPS1 Unknown GenCC
TRICHORHINOPHALANGEAL SYNDROME, TYPE I TRPS1 Unknown CTD HPO
TRICHORHINOPHALANGEAL SYNDROME, TYPE III TRPS1 Causal CTD ClinVar Disgenet HPO