Rare Disease Library

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

Darier disease

Darier-White disease · Keratosis follicularis

Erythroderma desquamativum

Leiner disease

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Fetal Gaucher disease

Perinatal lethal Gaucher disease

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

GRACILE syndrome

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

Hurler syndrome

Hurler disease · MPS1H

Hyperkeratosis lenticularis perstans

Flegel disease

IgA Nephropathy

Berger disease · Berger's disease

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

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

Multiple self-healing squamous epithelioma

Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type · Ferguson-Smith disease

Ollier disease

Multiple Enchondromatosis type I · Enchondromatosis Spranger type I

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

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy