Rare Disease Library

Autosomal dominant spastic paraplegia type 3

Strümpell disease · Autosomal dominant spastic paraplegia type 3A

Brill-Zinsser disease

Brill disease · Recrudescent typhus

Cap myopathy

Cap disease

Dent disease

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

Glycogen storage disease due to acid maltase deficiency

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

GRACILE syndrome

Fellman disease · Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Neuronal ceroid lipofuscinosis

NCL · NCL disease

Non-amyloid monoclonal immunoglobulin deposition disease

Non-amyloid MIDD · Randall disease

Salla disease

Sickle cell disease

HbSS disease · SCD

Sickle cell S-C disease

Hemoglobin S-C disease · HbSC disease

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

Stargardt disease

Fundus flavimaculatus · Stargardt 1

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA