Rare Disease Library

Cap myopathy

Cap disease

Dent disease

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

Erythema palmare hereditarium

Lane disease · Red palms disease

Erythroderma desquamativum

Leiner disease

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

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

Huntington disease-like 1

Early-onset prion disease with prominent psychiatric features · HDL1

Huntington disease-like 2

HDL2

Huntington disease-like 3

HDL3

Lafora disease

EPM2 · PME type 2

Leber plus disease

LHON plus disease

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lyme disease

Lyme borreliosis

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Nail-patella-like renal disease

Salcedo syndrome

Neuronal ceroid lipofuscinosis

NCL · NCL disease

Non-hereditary late-onset primary lymphedema

Meige-like disease

Occult macular dystrophy

OCMD · OMD

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Pelizaeus-Merzbacher-like disease

PMLD

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease