Rare Disease Library

Testicular regression syndrome

ETRS · Embryonic testicular regression syndrome

Adrenal Cushing syndrome

Adrenal CS

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Campomelia, Cumming type

Cumming syndrome

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

Cushing syndrome due to bilateral macronodular adrenocortical disease

CS due to BMACD · Cushing syndrome due to BMACD

Cushing syndrome due to ectopic ACTH secretion

Adrenocorticotropic hormone secretion syndrome · Ectopic ACTH secreting tumor

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome

PERCHING syndrome

TEMPI syndrome

Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome

Temple syndrome

Temtamy syndrome

Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome · Temtamy-Shalash syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Yunis-Varon syndrome

Cleidocranial dysplasia-micrognathia-absent thumbs syndrome