Rare Disease Library

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Alexander disease type I

AxD type I

Alexander disease type II

AxD type II

Alpha-N-acetylgalactosaminidase deficiency type 1

NAGA deficiency type 1 · Schindler disease type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease

Alpha-N-acetylgalactosaminidase deficiency type 3

NAGA deficiency type 3 · Schindler disease type 3

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

CLN13 disease

Kufs disease type B · Neuronal ceroid lipofuscinosis type 13

Dent disease type 1

Dent disease type 2

Gaucher disease type 1

Non-cerebral juvenile Gaucher disease

Gaucher disease type 2

Acute neuronopathic Gaucher disease · Infantile cerebral Gaucher disease

Gaucher disease type 3

Cerebral juvenile and adult form of Gaucher disease · Chronic neuronopathic Gaucher disease

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

HSD10 disease, atypical type

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

HSD10 disease, infantile type

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

Kyasanur forest disease

Kyasanur hemorrhagic fever · Monkey disease

Machado-Joseph disease type 1

SCA3, Joseph type · Spinocerebellar ataxia type 3, Joseph type

Machado-Joseph disease type 2

SCA3, Thomas type · Spinocerebellar ataxia, Thomas type

Machado-Joseph disease type 3

SCA3, Machado type · Spinocerebellar ataxia type 3, Machado type

Moyamoya disease

Idiopathic Moyamoya disease

Mucopolysaccharidosis type 4

MPS4 · MPSIV

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Niemann-Pick disease type D

Niemann-Pick disease, Nova Scotia type