Rare Disease Library

CLN13 disease

Kufs disease type B · Neuronal ceroid lipofuscinosis type 13

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

BENTA disease

B-cell expansion with NF-kB and T-cell anergy disease

Best vitelliform macular dystrophy

BMD · BVMD

Brill-Zinsser disease

Brill disease · Recrudescent typhus

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

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

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

Glycogen storage disease due to muscle phosphofructokinase deficiency

GSD due to muscle phosphofructokinase deficiency · GSD type 7

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

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

HSD10 disease, neonatal type

2-methyl-3-hydroxybutyric aciduria, neonatal type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type

Infantile neurovisceral acid sphingomyelinase deficiency

Infantile neurovisceral ASMD · Niemann-Pick disease type A

Kuskokwim syndrome

Kuskokwim disease · Arthrogryposis-like syndrome

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

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Niemann-Pick disease type C

Niemann-Pick disease type D

Niemann-Pick disease, Nova Scotia type

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

Osteochondritis dissecans

König disease

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Von Willebrand disease type 1

Von Willebrand disease type 2

Von Willebrand disease type 3