Category:Rare diseases
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A rare disease is technically defined (in the European Union) as a disease that is found in fewer than 5 people per every 10,000 people.
Subcategories
This category has the following 8 subcategories, out of 20 total.
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Pages in category "Rare diseases"
The following 200 pages are in this category, out of approximately 800 total. This list may not reflect recent changes.
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K
L
- Lafora disease
- Lamb-Shaffer syndrome
- Lamellar ichthyosis
- Langerhans cell histiocytosis
- Laryngeal papillomatosis
- Laurence–Moon syndrome
- Leber congenital amaurosis
- Legg–Calvé–Perthes disease
- Leontiasis ossea
- Léri–Weill dyschondrosteosis
- Lethal arthrogryposis with anterior horn cell disease
- Lethal congenital contracture syndrome
- Letterer–Siwe disease
- Leukocyte adhesion deficiency
- Leukocyte adhesion deficiency-1
- Leukodystrophy
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
- Leukoencephalopathy with vanishing white matter
- Leydig cell hypoplasia
- Lhermitte–Duclos disease
- Li–Fraumeni syndrome
- Limb body wall complex
- Lipofibromatosis
- Lipoid congenital adrenal hyperplasia
- Lipoprotein lipase deficiency
- Lipschütz ulcer
- Ljungan virus
- Loeys–Dietz syndrome
- LPS-responsive beige-like anchor protein deficiency
- Lutembacher's syndrome
- Lymphangioleiomyomatosis
- Lymphangiomatosis
- Lymphatic malformation 6 syndrome
- Lymphomatoid papulosis
- Lysinuric protein intolerance
- Lysosomal acid lipase deficiency
M
- Machado–Joseph disease
- Macrocephaly-capillary malformation
- Macrophagic myofasciitis
- Macular hypoplasia
- Malakoplakia
- Malignant hyperthermia
- Malignant infantile osteopetrosis
- Malonic aciduria
- Mandibulofacial dysostosis-microcephaly syndrome
- Maple syrup urine disease
- Mastocytosis
- May–Hegglin anomaly
- Megacystis (fetal)
- Meleda disease
- Melorheostosis
- Mendelian susceptibility to mycobacterial disease
- Menkes disease
- Metachondromatosis
- Metachromatic leukodystrophy
- Metaphyseal chondrodysplasia Schmid type
- Metaphyseal dysplasia
- Metascreen
- Methylmalonic acidemias
- MGUS polyneuropathy
- Michel aplasia
- Mickleson syndrome
- Microcephalic primordial dwarfism, Montreal type
- Microcephaly albinism digital anomalies syndrome
- Microhydranencephaly
- Microlissencephaly
- Microphthalmia
- Microspherophakia
- Microvillous inclusion disease
- Miller–Dieker syndrome
- Mismatch repair cancer syndrome
- Mitochondrial complex II deficiency
- Mitochondrial neurogastrointestinal encephalopathy syndrome
- Monilethrix
- Motor neuron diseases
- Mucormycosis
- Mulibrey nanism
- Multicentric carpotarsal osteolysis syndrome
- Multiple epiphyseal dysplasia
- Multiple sulfatase deficiency
- Multiple system atrophy
- Multisystem proteinopathy
- MURCS association
- Musical hallucinations
- Musicogenic epilepsy
- Myelokathexis
- Myopathy, X-linked, with excessive autophagy
- Myositis ossificans
- Myostatin-related muscle hypertrophy
- Myotonia congenita
N
- N-Acetylglutamate synthase deficiency
- Naegeli–Franceschetti–Jadassohn syndrome
- Nail–patella syndrome
- Nakajo syndrome
- Narcolepsy
- Nasodigitoacoustic syndrome
- Necrolytic migratory erythema
- Necrotizing fasciitis
- Nelson's syndrome
- Nemaline myopathy
- Neonatal diabetes
- Neonatal hemochromatosis
- Neonatal-onset multisystem inflammatory disease
- Nephrogenic diabetes insipidus
- Nephrogenic systemic fibrosis
- Netherton syndrome
- Neuromyelitis optica spectrum disorder
- Neuromyotonia
- Neuronal ceroid lipofuscinosis
- Neurotrophic keratitis
- Neutral lipid storage disease
- New Brunswick neurological syndrome of unknown cause
- Newborn screening
- NGLY1 deficiency
- Niemann–Pick disease
- Niemann–Pick disease type C
- Nodding disease
- Non-24-hour sleep–wake disorder
- Norrie disease
O
- Oculodentodigital dysplasia
- Oculopharyngeal muscular dystrophy
- Ogden syndrome
- Oguchi disease
- Oligodactyly
- Ollier disease
- Omodysplasia 2
- Opitz G/BBB syndrome
- Opsismodysplasia
- Organic acidemia
- Orgasmic epilepsy
- Ornithine translocase deficiency
- Orphan drug
- Osteochondritis dissecans
- Osteochondrodysplasia
- Osteogenesis imperfecta
- Osteopetrosis
- Osteoporosis-pseudoglioma syndrome
- Otospondylomegaepiphyseal dysplasia
- Ovotesticular syndrome
P
- Palinacousis
- PAPA syndrome
- Papillary fibroelastoma
- Paramyotonia congenita
- Parasitic twin
- Parastremmatic dwarfism
- Parechovirus B
- Paroxysmal exercise-induced dystonia
- Paroxysmal extreme pain disorder
- Paroxysmal nocturnal hemoglobinuria
- Parry–Romberg syndrome
- Pelizaeus–Merzbacher disease
- Pelvic lipomatosis
- Pemphigus foliaceus
- Pemphigus vulgaris
- Periodic paralysis
- Persistent truncus arteriosus
- Phakomatosis pigmentokeratotica
- Phakomatosis pigmentovascularis
- Phenylketonuria
- Pigmented villonodular synovitis
- Pipecolic acidemia
- Pitt–Hopkins syndrome
- Plantar fibromatosis
- Plummer–Vinson syndrome
- Pneumosinus dilatans
- Polymelia
- Polyorchidism
- Porokeratosis
- Porphyria cutanea tarda
- Postarthroscopic glenohumeral chondrolysis
- Postvaccinal encephalitis
- Potassium-aggravated myotonia
- Pre-eclampsia
- Pregnancy and lactation-associated osteoporosis
- Premature thelarche
- Primary ciliary dyskinesia
- Primary lateral sclerosis
- Procoagulant platelets
- Progeria