Rare Disease Library

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

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

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

RI-CMT type A

Microcephalic osteodysplastic primordial dwarfism type II

MOPD type II · Majewski osteodysplastic primordial dwarfism type II

Peeling skin syndrome type A

Generalized peeling skin syndrome type A · Non-inflammatory generalized peeling skin syndrome type A.

Sulfite oxidase deficiency due to molybdenum cofactor deficiency

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

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

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

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

Thymoma type A