Rare Disease Library

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

RI-CMT type B

Autosomal recessive intermediate Charcot-Marie-Tooth disease

RI-CMT

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

RI-CMT type A

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

RI-CMT type C

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

RI-CMT type D

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

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