Rare Disease Library

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

Infantile neuroaxonal dystrophy

INAD · INAD1

Insulin autoimmune syndrome

Hirata disease

Invasive non-typhoidal salmonellosis

Invasive non-typhoidal salmonella disease · iNTS disease

Juvenile amyotrophic lateral sclerosis

ALS · Charcot disease

Kawasaki disease

Mucocutaneous lymph node syndrome

Kennedy disease

SBMA · X-linked BSMA

Keratoderma hereditarium mutilans with ichthyosis

Camisa disease · Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome

Kienbock disease

Aseptic necrosis of the lunate bone · Lunatomalacia

Kikuchi-Fujimoto disease

Histiocytic necrotizing lymphadenitis · Kikuchi disease

Kimura disease

Eosinophilic lymphogranuloma

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Kyasanur forest disease

Kyasanur hemorrhagic fever · Monkey disease

Lafora disease

EPM2 · PME type 2

Leber plus disease

LHON plus disease

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

Medullar disease

Meige disease

Hereditary lymphedema type II · Meige lymphedema

Ménétrier disease

Hypoproteinemic hypertrophic gastropathy · Giant hypertrophic gastritis

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

Monomelic amyotrophy

Benign focal amyotrophy · Hirayama disease

Moyamoya disease

Idiopathic Moyamoya disease

Mucolipidosis type II

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

Mucopolysaccharidosis type 4

MPS4 · MPSIV

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

Multiple sulfatase deficiency

MSD · Austin disease

Multiple symmetric lipomatosis

Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis

Narcolepsy type 1

Gélineau disease · Narcolepsy-cataplexy

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