Rare Disease Library

Alexander disease

AxD

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Darier disease

Darier-White disease · Keratosis follicularis

Early-onset autosomal dominant Alzheimer disease

EOFAD · Early-onset familial autosomal dominant Alzheimer disease

Familial Alzheimer-like prion disease

IgA Nephropathy

Berger disease · Berger's disease

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Salla disease

Schilder disease

Myelinoclastic diffuse sclerosis

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA