Rare Disease Library

Juvenile nephropathic cystinosis

Intermediate cystinosis · Juvenile cystinosis

Cystinosis

Protein defect of cystin transport

Intermediate Charcot-Marie-Tooth disease

Intermediate CMT · Intermediate hereditary motor and sensory neuropathy

Intermediate collagen VI-related muscular dystrophy

Intermediate COL6-RD

Intermediate maple syrup urine disease

Intermediate BCKD deficiency · Intermediate MSUD

Intermediate osteopetrosis

Autosomal recessive intermediate osteopetrosis

Intermediate uveitis

IU

Neonatal adrenoleukodystrophy

NALD · Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder

Ocular cystinosis

Adult-onset cystinosis · Non-nephropathic cystinosis