Rare Disease Library

Leber plus disease

LHON plus disease

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Bartonella bacilliformis infection

Bartonellosis due to infection with Bartonella bacilliformis · Carrion disease

Cap myopathy

Cap disease

Danon disease

GSD due to LAMP-2 deficiency · Glycogenosis due to LAMP-2 deficiency

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Erythema palmare hereditarium

Lane disease · Red palms disease

Erythroderma desquamativum

Leiner disease

Giant cell arteritis

Horton disease · Temporal arteritis

Glycogen storage disease due to acid maltase deficiency

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

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Human prion disease

TSE · Transmissible spongiform encephalopathy

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Lafora disease

EPM2 · PME type 2

Legg-Calvé-Perthes disease

Aseptic necrosis of the capital femoral epiphysis · Osteochondrosis of the capital femoral epiphysis

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lyme disease

Lyme borreliosis

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Neuronal ceroid lipofuscinosis

NCL · NCL disease

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Panner disease

Aseptic necrosis of the capital humerus · Osteochondrosis of the capital humerus

Psittacosis

Ornithosis · Parrot fever

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

Wilson disease

Hepatolenticular degeneration

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR