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 5 subcategories, out of 19 total.
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Pages in category "Rare diseases"
The following 200 pages are in this category, out of approximately 783 total. This list may not reflect recent changes.
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- 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
- Ornithine translocase deficiency
- Orphan drug
- Osteochondritis dissecans
- Osteochondrodysplasia
- Osteogenesis imperfecta
- Osteopetrosis
- 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
- Progressive bifocal chorioretinal atrophy
- Progressive multifocal leukoencephalopathy
- Progressive pseudorheumatoid dysplasia
- Progressive rubella panencephalitis
- Progressive supranuclear palsy
- Progressive symmetric erythrokeratodermia
- Progressive vaccinia
- Prolidase deficiency
- Properdin deficiency
- Propionic acidemia
- Prurigo pigmentosa
- Pseudo-Hurler polydystrophy
- Pseudoaldosteronism
- Pseudohypoaldosteronism
- Pseudohypoparathyroidism
- Pseudomyxoma peritonei
- Pseudopseudohypoparathyroidism
- Pulmonary alveolar proteinosis
- Pulmonary artery sling
- Pulmonary capillary hemangiomatosis
- Pulmonary hypertension
- Pulmonary hypoplasia
- Purine nucleoside phosphorylase deficiency
- Pycnodysostosis
- Pyknoachondrogenesis
- Pyoderma gangrenosum
R
- Rabbit syndrome
- Rare Diseases Act of 2002
- Rare Diseases Clinical Research Network Contact Registry
- Rat-bite fever
- Real-time quaking-induced conversion
- Refsum disease
- Renal–hepatic–pancreatic dysplasia
- Restrictive dermopathy
- Reticular dysgenesis
- Retinoblastoma
- Retinopathy of prematurity
- Reynolds syndrome
- Ribose-5-phosphate isomerase deficiency
- Ring chromosome 14 syndrome
- Ring chromosome 15
- Ring chromosome 20 syndrome
- Roberts syndrome
- ROHHAD
- Rombo syndrome
- Rosai–Dorfman disease
- Rosselli–Gulienetti syndrome
- Rothmund–Thomson syndrome
- Rotor syndrome
- Rud syndrome
- Rudiger syndrome
S
- Saal Greenstein syndrome
- Sabinas brittle hair syndrome
- Saccharopinuria
- Sacral agenesis
- Saethre–Chotzen syndrome
- Salla disease
- Sandhoff disease
- Sanjad–Sakati syndrome
- Sarcosinemia
- Scarlet fever
- Schindler disease
- Schizencephaly
- Schmitt Gillenwater Kelly syndrome
- Schnitzler syndrome
- Schwartz–Jampel syndrome
- Scleroderma
- Scott syndrome
- Sealpox
- Seaver–Cassidy syndrome
- Senior–Løken syndrome
- Severe achondroplasia with developmental delay and acanthosis nigricans
- Severe combined immunodeficiency
- Severe congenital neutropenia
- Short-chain acyl-coenzyme A dehydrogenase deficiency
- Short-limb skeletal dysplasia with severe combined immunodeficiency
- Sialidosis
- Simpson–Golabi–Behmel syndrome
- Sirenomelia
- Situs inversus
- Sjögren–Larsson syndrome
- SLC6A1 epileptic encephalopathy
- SLC13A5 citrate transporter disorder
- Slipped capital femoral epiphysis
- Sly syndrome
- Small-cell carcinoma
- Smith–Martin–Dodd syndrome
- Smith–Fineman–Myers syndrome
- Smith–Lemli–Opitz syndrome
- Sneddon's syndrome
- Solitary fibrous tumor
- Sotos syndrome
- Spastic ataxia-corneal dystrophy syndrome
- Spastic paraplegia 6
- Spastic paraplegia 31
- SPG15 (disease)
- Spinal muscular atrophy with lower extremity predominance 1
- Spinal muscular atrophy with lower extremity predominance 2A
- Spinal muscular atrophy with lower extremity predominance 2B
- Spinocerebellar ataxia
- Spinocerebellar ataxia type 1
- Spinocerebellar ataxia type 6
- Spinocerebellar ataxia type-13
- Spitz nevus
- Splenogonadal fusion-limb defects-micrognathia syndrome
- Spondyloepiphyseal dysplasia congenita
- Spondyloperipheral dysplasia
- Sporadic hemiplegic migraine
- Stimmler syndrome
- Subacute sclerosing panencephalitis
- Subglottic stenosis
- Succinic semialdehyde dehydrogenase deficiency