Rare Disease Library

HSD10 disease

2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Hurler syndrome

Hurler disease · MPS1H

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

Hyperkeratosis lenticularis perstans

Flegel disease

Hypophosphatasia

HPP · Phosphoethanolaminuria

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

IgA Nephropathy

Berger disease · Berger's disease

IgG4-related dacryoadenitis and sialadenitis

Chronic dacryoadenitis and sialadenitis · Mikulicz disease

IgG4-related retroperitoneal fibrosis

Ormond disease · Idiopathic retroperitoneal fibrosis

IgG4-related thyroid disease

Riedel disease · Riedel thyroiditis

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

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

Kuskokwim syndrome

Kuskokwim disease · Arthrogryposis-like syndrome

Kyasanur forest disease

Kyasanur hemorrhagic fever · Monkey disease

Lafora disease

EPM2 · PME type 2

Ledderhose disease

Plantar fibromatosis

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

Medullary sponge kidney

Cacchi-Ricci disease · MSK

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

Mild Canavan disease

Juvenile Canavan 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 sulfatase deficiency

MSD · Austin disease

Multiple symmetric lipomatosis

Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis