Rare Disease Library

HSD10 disease, infantile type

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

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Adult Refsum disease

Classic Refsum disease · HMSN 4

Autosomal recessive cutis laxa type 2, classic type

ARCL2, Debré type · ARCL2, classic type

Classic Hodgkin lymphoma

Classic Hodgkin disease

Classic maple syrup urine disease

Classic BCKD deficiency · Classic MSUD

Classic multiminicore myopathy

Classic MmD · Classic multiminicore disease

CLN10 disease

NCL10 · Neuronal ceroid lipofuscinosis type 10

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

HSD10 disease

2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

HSD10 disease, atypical type

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

HSD10 disease, neonatal type

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

Infantile Krabbe disease

Krabbe disease, classic form · Krabbe disease, early-onset

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, classic form