Rare Disease Library

Amyotrophic lateral sclerosis

ALS · Charcot disease

Amyotrophic lateral sclerosis type 4

ALS · ALS4

Juvenile amyotrophic lateral sclerosis

ALS · Charcot disease

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Blount disease

Infantile tibia vara · Osteochondrosis deformans tibiae

Erythema palmare hereditarium

Lane disease · Red palms disease

Erythroderma desquamativum

Leiner disease

Gorham-Stout disease

Gorham disease · Gorham syndrome

Lafora disease

EPM2 · PME type 2

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lyme disease

Lyme borreliosis

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Osteochondritis dissecans

König disease

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease