Rare Disease Library

Infantile neurovisceral acid sphingomyelinase deficiency

Infantile neurovisceral ASMD · Niemann-Pick disease type A

Chronic neurovisceral acid sphingomyelinase deficiency

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

Alexander disease type I

AxD type I

Alexander disease type II

AxD type II

Chronic visceral acid sphingomyelinase deficiency

Chronic visceral ASMD · Niemann-Pick disease type B

CLN13 disease

Kufs disease type B · Neuronal ceroid lipofuscinosis type 13

Dent disease type 1

Dent disease type 2

HSD10 disease, atypical type

HSD10 deficiency, atypical type · Syndromic X-linked intellectual disability type 10

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

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