Rare Disease Library

Timothy syndrome type 1

TS1 · LQT8 type 1

Timothy syndrome type 2

TS2 · LQT8 type 2

TMEM165-CDG

Carbohydrate deficient glycoprotein syndrome type IIk · Congenital disorder of glycosylation type 2k

TMEM199-CDG

CDG syndrome type IIp · CDG-IIp

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Usher syndrome type 1

USH1

Usher syndrome type 2

USH2

Usher syndrome type 3

USH3

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

Waardenburg syndrome type 1

WS1 · Waardenburg syndrome type I

Waardenburg syndrome type 2

WS2 · Waardenburg syndrome type II

Waardenburg syndrome type 3

Klein-Waardenburg syndrome · WS3

Waardenburg-Shah syndrome

Shah-Waardenburg syndrome · WS4

Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

Suarez-Stickler syndrome

X-linked Ehlers-Danlos syndrome

EDS V · Ehlers-Danlos syndrome type 5

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency