Rare Disease Library

Chronic visceral acid sphingomyelinase deficiency

Chronic visceral ASMD · Niemann-Pick disease type B

Chronic neurovisceral acid sphingomyelinase deficiency

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

CLN13 disease

Kufs disease type B · Neuronal ceroid lipofuscinosis type 13

Dent disease type 1

Dent disease type 2

Infantile neurovisceral acid sphingomyelinase deficiency

Infantile neurovisceral ASMD · Niemann-Pick disease type A

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Niemann-Pick disease type C

Niemann-Pick disease type C, adult neurologic onset

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, classic form

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