Rare Disease Library

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Alpha-N-acetylgalactosaminidase deficiency type 1

NAGA deficiency type 1 · Schindler disease type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease

Alpha-N-acetylgalactosaminidase deficiency type 3

NAGA deficiency type 3 · Schindler disease type 3

Buerger disease

Thromboangiitis obliterans

Cap myopathy

Cap disease

Cat-scratch disease

Bartonellosis due to Bartonella henselae infection

Congenital erythropoietic porphyria

CEP · Günther disease

Cushing disease

Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma

Darier disease

Darier-White disease · Keratosis follicularis

Dent disease

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

Erythroderma desquamativum

Leiner disease

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hereditary hemorrhagic telangiectasia

HHT · Rendu-Osler disease

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hurler syndrome

Hurler disease · MPS1H

IgA Nephropathy

Berger disease · Berger's disease

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Kikuchi-Fujimoto disease

Histiocytic necrotizing lymphadenitis · Kikuchi disease

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Multiple myeloma

Kahler disease · Medullary plasmacytoma

Neuronal ceroid lipofuscinosis

NCL · NCL disease

Oguchi disease

Congenital stationary night blindness, Oguchi type · Oguchi syndrome

Ollier disease

Multiple Enchondromatosis type I · Enchondromatosis Spranger type I

Osgood-Schlatter disease

Aseptic necrosis of the tibial tubercle · Osteochondrosis of the tibial tubercle

Osteochondrosis of the tarsal bone

Avascular necrosis of the tarsal bone · Kohler disease

Panner disease

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

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Salla disease

Schilder disease

Myelinoclastic diffuse sclerosis

Senior-Boichis syndrome

Boichis disease · Nephronophthisis-hepatic fibrosis syndrome

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Venous thoracic outlet syndrome

Effort subclavian vein thrombosis · Paget-Schrotter disease

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy