Rare Disease Library

Denys-Drash syndrome

Wilms tumor-DSD syndrome · Drash syndrome

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Familial cylindromatosis

Turban tumor syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Hypodontia-dysplasia of nails syndrome

Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Nephroblastoma

Renal embryonic tumor · Wilms tumor

PTEN hamartoma tumor syndrome

PHTS

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

SAMS syndrome

Superior mesenteric artery syndrome

Wilkie syndrome · SMAS

Syndrome with 46,XX difference of sex development

Syndrome with 46,XX DSD · Syndrome with 46,XX disorder of sex development

Syndrome with 46,XY difference of sex development

Syndrome with 46,XY disorder of sex development · Syndrome with 46,XY DSD

Thrombocytopenia-absent radius syndrome

TAR syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

W syndrome

Pallister-W syndrome

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

WILD syndrome · Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome

Weaver-Williams syndrome

Wildervanck syndrome

Cervicooculoacoustic syndrome

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity syndrome

X-linked intellectual disability, Wittwer type

Wittwer syndrome