Rare Disease Library

Infantile Krabbe disease

Krabbe disease, classic form · Krabbe disease, early-onset

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Adult Krabbe disease

Adult Refsum disease

Classic Refsum disease · HMSN 4

Classic Hodgkin lymphoma

Classic Hodgkin disease

Classic multiminicore myopathy

Classic MmD · Classic multiminicore disease

Classic pantothenate kinase-associated neurodegeneration

NBIA1, classic form · Neurodegeneration with brain iron accumulation type 1, classic form

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, classic form

Pelizaeus-Merzbacher disease, classic form

Classic PMD