Rare Disease Library

Pilodental dysplasia-refractive errors syndrome

Euhidrotic ectodermal dysplasia · Kopysc-Barczyk-Krol syndrome

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Bartter syndrome

Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type

Biliary atresia with splenic malformation syndrome

BASM syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

Thoracolaryngopelvic dysplasia

Barnes syndrome