Rare Disease Library

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

RI-CMT type B

Benign recurrent intrahepatic cholestasis type 1

BRIC type 1 · BRIC1

Benign recurrent intrahepatic cholestasis type 2

BRIC type 2 · BRIC2

Blepharophimosis-intellectual disability syndrome, Verloes type

BMRS type V · BMRS, Verloes type

Congenital generalized lipodystrophy type 4

GCL4 · Berardinelli-Seip syndrome type 4, BSCL type 4

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B · MOCOD type B

Thymoma type B