Rare Disease Library

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

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

CLN13 disease

Kufs disease type B · Neuronal ceroid lipofuscinosis type 13

Congenital erythropoietic porphyria

CEP · Günther disease

Dent disease type 1

Dent disease type 2

Fetal Gaucher disease

Perinatal lethal Gaucher disease

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

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

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Machado-Joseph disease type 3

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

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Pelizaeus-Merzbacher disease, connatal form

Connatal PMD · Pelizaeus-Merzbacher disease type II

Transgrediens et progrediens palmoplantar keratoderma

Greither disease · Keratosis extremitatum hereditaria progrediens

Von Willebrand disease type 3