Rare Disease Library

Lafora disease

EPM2 · PME type 2

Legg-Calvé-Perthes disease

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

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

Lyme disease

Lyme borreliosis

Mal de Meleda

Meleda disease

Meige disease

Hereditary lymphedema type II · Meige lymphedema

Menkes disease

Menkes kinky hair disease · MD

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

Milroy disease

Hereditary lymphedema type I · Nonne-Milroy lymphedema

Mitochondrial oxidative phosphorylation disorder

OXPHOS disease

Moyamoya disease

Idiopathic Moyamoya disease

Mucolipidosis type II

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

Mucopolysaccharidosis type 3

MPS3 · MPSIII

Mucopolysaccharidosis type 4

MPS4 · MPSIV

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Multiple myeloma

Kahler disease · Medullary plasmacytoma

Multiple sulfatase deficiency

MSD · Austin disease

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuronal ceroid lipofuscinosis

NCL · NCL disease

Non-amyloid monoclonal immunoglobulin deposition disease

Non-amyloid MIDD · Randall disease

Norrie disease

Atrophia bulborum hereditaria · Episkopi blindness

Occult macular dystrophy

OCMD · OMD

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Oguchi disease

Congenital stationary night blindness, Oguchi type · Oguchi syndrome

Ollier disease

Multiple Enchondromatosis type I · Enchondromatosis Spranger type I

Osteochondritis dissecans

König disease

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

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

Persistent hyperplastic primary vitreous

Non-syndromic congenital retinal non-attachment · PFVS

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

Pontocerebellar hypoplasia type 1

Norman disease · PCH1

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

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 skin disease

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Salla disease

Sandhoff disease

Schilder disease

Myelinoclastic diffuse sclerosis

Senior-Boichis syndrome

Boichis disease · Nephronophthisis-hepatic fibrosis syndrome