Rare Disease Library

Intermediate collagen VI-related muscular dystrophy

Intermediate COL6-RD

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

Generalized RDEB, intermediate form · Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis

Borderline vascular tumor

Vascular locally aggressive tumors · Vascular intermediate tumors

Collagen VI-related congenital muscular dystrophy

COL6-RD

Intermediate Charcot-Marie-Tooth disease

Intermediate CMT · Intermediate hereditary motor and sensory neuropathy

Intermediate DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form

Intermediate generalized junctional epidermolysis bullosa

Generalized junctional epidermolysis bullosa, non-Herlitz type · Intermediate generalized JEB

Intermediate maple syrup urine disease

Intermediate BCKD deficiency · Intermediate MSUD

Intermediate osteopetrosis

Autosomal recessive intermediate osteopetrosis

Intermediate uveitis

IU

Juvenile nephropathic cystinosis

Intermediate cystinosis · Juvenile cystinosis

Neonatal adrenoleukodystrophy

NALD · Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder