Rare Disease Library

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, classic form

Chronic neurovisceral acid sphingomyelinase deficiency

Chronic neurovisceral ASMD · Niemann-Pick disease type A/B

Chronic visceral acid sphingomyelinase deficiency

Chronic visceral ASMD · Niemann-Pick disease type B

HSD10 disease, infantile type

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

Infantile Krabbe disease

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

Infantile neurovisceral acid sphingomyelinase deficiency

Infantile neurovisceral ASMD · Niemann-Pick disease type A

Niemann-Pick disease type C

Niemann-Pick disease type C, adult neurologic onset

Niemann-Pick disease type C, late infantile neurologic onset

Niemann-Pick disease type C, severe early infantile neurologic onset

Niemann-Pick disease type C, severe perinatal form

Niemann-Pick disease type D

Niemann-Pick disease, Nova Scotia type

OBSOLETE: Niemann-Pick disease type E

Pelizaeus-Merzbacher disease, classic form

Classic PMD

Thiemann disease, familial form

Aseptic necrosis of phalangeal epiphyses · Osteochondrosis of phalangeal epiphyses