Rare Disease Library

Erythema palmare hereditarium

Lane disease · Red palms disease

Arthrogryposis-anterior horn cell disease syndrome

AAHD · Vuopala disease

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

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hereditary hemorrhagic telangiectasia

HHT · Rendu-Osler disease

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hypophosphatasia

HPP · Phosphoethanolaminuria

IgG4-related disease

IgG4-related sclerosing disease · Immunoglobulin G4-related sclerosing disease

IgG4-related thyroid disease

Riedel disease · Riedel thyroiditis

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Legg-Calvé-Perthes disease

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

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Neuronal ceroid lipofuscinosis

NCL · NCL disease

Non-amyloid monoclonal immunoglobulin deposition disease

Non-amyloid MIDD · Randall disease

Panner disease

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

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Psittacosis

Ornithosis · Parrot fever

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Rare pancreatic disease

Rare parasitic disease

Rare renal disease

Ringed hair disease

Pili annulati

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR