Rare Diseases and Related Terms
Rare diseases terms are either (1) terms for which information requests have
been made to the Office of Rare Diseases Research, the Genetic and Rare Diseases
Information Center, or the National Human Genome Research Institute; or (2)
diseases that have been suggested as being rare. The purpose of the Rare
Diseases and Related Terms list is to distribute information; although the list
is updated regularly, it should not be used as a reference or guarantee that a
condition is rare. The prevalence of a rare disease is usually an estimate and
may change over time. A rare (or orphan) disease is generally considered to have
a prevalence of fewer than 200,000 affected individuals in the United States.
Certain diseases with 200,000 or more affected individuals may be included in
this list if certain subpopulations of people who have the disease are equal to
the prevalence standard for rare diseases. We welcome suggestions for additions
to or deletions from the list. Your recommendations may be sent via e-mail to
ord@od.nih.gov
Browse by Condition
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Pachydermoperiostosis
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Pachygyria
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Pachygyria with mental retardation and seizures
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Pachygyria, frontotemporal
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Pachyonychia congenita Jackson Lawler type
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Pachyonychia congenita recessive
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Pacman dysplasia
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Paget disease
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Paget's disease of the breast
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Paget's disease, type 1
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Pagon Stephan syndrome
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Paine syndrome
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Palant cleft palate syndrome
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Pallidopyramidal syndrome
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Pallister Killian syndrome
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Pallister W syndrome
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Pallister-Hall syndrome
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Palmer Pagon syndrome
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Palmoplantar Keratoderma
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Palmoplantar keratoderma, epidermolytic
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Pancreas agenesis, dorsal
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Pancreatic adenoma
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Pancreatic beta cell agenesis with neonatal diabetes mellitus
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Pancreatic cancer, adult
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Pancreatic cancer, childhood
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Pancreatic carcinoma, familial
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Pancreatic islet cell tumors
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Pancreatic lipomatosis duodenal stenosis
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Pancreatitis, pediatric
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Pancreatoblastoma
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PANDAS
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Panhypopituitarism
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Panostotic fibrous dysplasia
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Panuveitis
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Papillary cystadenocarcinoma
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Papillary eccrine adenoma
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Papillary renal cell carcinoma
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Papilledema
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Papillitis
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Papilloma of choroid plexus
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Papillorenal syndrome
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Papular mucinosis
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Papular urticaria
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Paracoccidioidomycosis
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Paraganglioma
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Paragonimiasis
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Parainfluenza virus type 3
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Paralysis agitans, juvenile, of Hunt
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Paramyotonia congenita
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Paranasal sinus cancer, adult
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Paranasal sinus cancer, childhood
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Paraneoplastic cerebellar degeneration
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Paraneoplastic Neurologic Disorders
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Paraomphalocele
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Paraplegia
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Parapsoriasis
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Paraquat lung
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Parastremmatic dwarfism
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Parathyroid cancer, adult
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Parathyroid cancer, childhood
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PARC syndrome
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Parenchymatous cortical degeneration of cerebellum
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Paris-Trousseau thrombocytopenia
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Parkes Weber syndrome
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Parkinson disease 3
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Parkinson disease 9
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Parkinson disease, juvenile, autosomal recessive
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Parkinsonism, early onset with mental retardation
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Paroxysmal cold hemoglobinuria
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Paroxysmal kinesigenic choreoathetosis
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Paroxysmal nocturnal hemoglobinuria
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Paroxysmal nonkinesigenic dyskinesia
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Paroxysmal ventricular fibrillation
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Pars planitis
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Parsonage Turner syndrome
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Partial agenesis of corpus callosum
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Partial atrioventricular canal
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Partial deletion of Y
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Partial lissencephaly
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Partington Anderson syndrome
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Partington X-linked mental retardation syndrome
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Parvovirus antenatal infection
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Pascual Castroviejo syndrome
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Pashayan syndrome
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Passos-Bueno syndrome
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Pasteurella multocida infection
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Patau syndrome
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Patel Bixler syndrome
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Patella aplasia, coxa vara, tarsal synostosis
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Patella hypoplasia mental retardation
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Patent ductus arteriosus
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Patent ductus venosus
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Patterned dystrophy of retinal pigment epithelium
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Patterson pseudoleprechaunism syndrome
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Patterson Stevenson syndrome
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Pauciarticular chronic arthritis
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Pavone Fiumara Rizzo syndrome
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Pearson syndrome
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Pectus carinatum
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Pediatric Crohns disease
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Pediatric multiple sclerosis
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Pediatric T-cell leukemia
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Pediatric ulcerative colitis
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Peeling skin syndrome, acral type
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PEHO syndrome
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Pelger-Huet anomaly
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Pelizaeus-Merzbacher disease
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Pelizaeus-Merzbacher like brain sclerosis
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Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
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Pellagra
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Pellagra like syndrome
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Pelvic dysplasia arthrogryposis of lower limbs
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Pelvic lipomatosis
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Pelviscapular dysplasia
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Pemphigus
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Pemphigus and fogo selvagem
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Pemphigus foliaceus
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Pemphigus vulgaris
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Pemphigus vulgaris, familial
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Pena Shokeir syndrome Type 2
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Pena Shokeir syndrome, type 1
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Pendred syndrome
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Penile cancer, adult
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Penile cancer, childhood
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Penis agenesis
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Penoscrotal transposition
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Pentalogy of Cantrell
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Pentosuria
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Penttinen-Aula syndrome
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PEPCK 1 deficiency
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PEPCK 2 deficiency
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Peptidic growth factors deficiency
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Pericardium absent mental retardation short stature
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Perilymphatic fistula
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Perimyositis
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Periodic fever, aphthous stomatitis, pharyngitis and adenitis
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Periodic fever, familial, autosomal dominant
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Peripartum cardiomyopathy
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Peripheral neuroectodermal tumor
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Peripheral T-cell lymphoma
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Peripheral type neurofibromatosis
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Perisylvian syndrome
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Periventricular laminar heterotopia
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Periventricular leukomalacia
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Permanent neonatal diabetes mellitus
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Perniola Krajewska Carnevale syndrome
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Perniosis
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Peroxisomal ACYL-COA oxidase deficiency
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Peroxisomal bifunctional enzyme deficiency
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Peroxisome biogenesis disorders
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Perry syndrome
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Persistent hyperinsulinemic hypoglycemia of infancy
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Persistent Mullerian duct syndrome
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Persistent parvovirus infection
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Persistent truncus arteriosus
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Peters anomaly
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Peters anomaly with cataract
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Peters congenital glaucoma
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Peters plus syndrome
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Petit Fryns syndrome
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Petty Laxova Wiedemann syndrome
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Peutz Jeghers syndrome
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Peyronie disease
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Pfeiffer Kapferer syndrome
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Pfeiffer Mayer syndrome
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Pfeiffer Palm Teller syndrome
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Pfeiffer Rockelein syndrome
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Pfeiffer syndrome
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Pfeiffer Tietze Welte syndrome
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PHACE association
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Phacomatosis fourth
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Phacomatosis pigmentokeratotica
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Phacomatosis pigmentovascularis
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Phelan-McDermid syndrome
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Phenobarbital antenatal infection
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Phenobarbital embryopathy
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Phenol sulfotransferase deficiency
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Phenothiazine antenatal infection
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Phenylalaninemia
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Phenylketonuria
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Phenylketonuria type 2
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Phenylketonuric embryopathy
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Pheochromocytoma
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Pheochromocytoma as part of Neurofibromatosis
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Pheochromocytoma, childhood
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Philadelphia-negative chronic myeloid leukemia
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Phocomelia contractures absent thumb
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Phocomelia ectrodactyly deafness sinus arrhythmia
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Phocomelia syndrome
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Phocomelia thrombocytopenia encephalocele
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Phosphate diabetes
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Phosphoglucomutase deficiency
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Phosphoglucomutase deficiency type 1
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Phosphoglucomutase deficiency type 2
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Phosphoglucomutase deficiency type 3
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Phosphoglucomutase deficiency type 4
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Phosphoglycerate kinase 1 deficiency
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Phosphoglycerate kinase deficiency
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Phosphomannoisomerase deficiency
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Phosphoribosylpyrophosphate synthetase deficiency
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Photosensitive epilepsy
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Phyllodes tumor of the prostate
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Phytanic acid oxidase deficiency
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PIBIDS syndrome
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Picardi-Lassueur-Little syndrome
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Pick disease of the brain
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Piebaldism
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Piepkorn Karp Hickok syndrome
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Pierre Marie cerebellar ataxia
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Pierre Robin sequence faciodigital anomaly
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Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
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Pierre Robin syndrome skeletal dysplasia polydactyly
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Pierre Robin syndrome with fetal chondrodysplasia
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Pierre Robin's sequence
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Pierson syndrome
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Pigmentary retinopathy
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Pigment-dispersion syndrome
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Pigmented purpuric eruption
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Pigmented villonodular synovitis
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Pili annulati
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Pili multigemini
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Pili torti
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Pili torti developmental delay neurological abnormalities
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Pili torti onychodysplasia
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Pillay syndrome
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Pilo dento ungular dysplasia microcephaly
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Pilomatrixoma
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Pilotto syndrome
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Pineal Teratoma
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Pinealoma
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Pineoblastoma, adult
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Pineoblastoma, childhood
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Pinheiro Freire-Maia Miranda syndrome
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Pinta
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Piriformis syndrome
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Pitt Rogers Danks syndrome
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Pitt-Hopkins syndrome
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Pituitary cancer
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Pituitary dwarfism 1
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Pityriasis lichenoides chronica
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Pityriasis lichenoides et varioliformis acuta
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Pityriasis rubra pilaris
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Piussan Lenaerts Mathieu syndrome
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Placenta disorder
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Placenta neoplasm
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Plagiocephaly
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Plagiocephaly and X-linked mental retardation
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Plague
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Plasma cell leukemia
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Plasma thromboplastin antecedent deficiency
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Plasmacytoma anaplastic
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Plasmalogens synthesis deficiency isolated
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Plasminogen activator inhibitor type 1 deficiency
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Platelet disorder, familial, with associated myeloid malignancy
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Platyspondylic lethal chondrodysplasia
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Pleoconial myopathy with salt craving
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Pleomorphic malignant fibrous histiocytoma
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Pleuropulmonary blastoma
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Plexosarcoma
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Plum syndrome
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Plummer Vinson syndrome
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Pneumocystic carinii pneumonia
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Pneumocystosis
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Pneumonia, eosinophilic
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Podder-Tolmie syndrome
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POEMS syndrome
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Poikiloderma of Kindler
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Poikiloderma of Rothmund-Thomson
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Poikilodermatomyositis mental retardation
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Poikilodermia alopecia retrognathism cleft palate
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Pointer syndrome
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Poland syndrome
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Poliomyelitis
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Polyarteritis nodosa
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Polyarthritis
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Polyarthritis, systemic
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Polychondritis
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Polycystic bone disease
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Polycystic kidney disease, type 1
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Polycystic kidney disease, type 2
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Polycystic kidneys, severe infantile with tuberous sclerosis
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Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
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Polycystic liver disease
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Polycystic ovarian disease, familial
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Polycystic ovaries urethral sphincter dysfunction
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Polycythemia vera
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Polydactyly
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Polydactyly alopecia seborrheic dermatitis
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Polydactyly cleft lip palate psychomotor retardation
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Polydactyly myopia syndrome
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Polydactyly postaxial
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Polydactyly postaxial dental and vertebral
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Polydactyly postaxial with median cleft of upper lip
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Polydactyly preaxial type 1
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Polydactyly syndrome middle ray duplication
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Polydactyly visceral anomalies cleft lip palate
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Polydactyly, preaxial 4
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Polyembryoma
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Polyglucosan body disease, adult
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Polymicrogyria turricephaly hypogenitalism
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Polymorphic catecholergic ventricular tachycardia
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Polymorphic macular degeneration
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Polymorphic reticulosis
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Polymorphous low-grade adenocarcinoma
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Polymyositis
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Polyneuritis
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Polyneuropathy hand defect
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Polyneuropathy mental retardation acromicria prema
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Polyomavirus allograft nephropathy
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Polyomavirus Infections
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Polyosteolysis/hyperostosis syndrome
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Polyostotic osteolytic dysplasia, hereditary expansile
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Polyposis skin pigmentation alopecia fingernail changes
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Polysyndactyly cardiac malformation
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Polysyndactyly microcephaly ptosis
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Polysyndactyly orofacial anomalies
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Polysyndactyly overgrowth syndrome
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Polysyndactyly trigonocephaly agenesis of corpus callosum
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Polysyndactyly type 4
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Polysyndactyly type Haas
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Poncet-Spiegler's cylindroma
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Pontoneocerebellar Hypoplasia
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Popliteal pterygium syndrome
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Popliteal pterygium syndrome lethal type
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Porencephaly
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Porencephaly cerebellar hypoplasia malformations
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Porokeratosis of Mibelli
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Porokeratosis plantaris palmaris et disseminata
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Porokeratosis punctata palmaris et plantaris
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Porokeratosis, disseminated superficial actinic 1
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Porokeratosis, disseminated superficial actinic 2
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Porphyria cutanea tarda
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Porphyria, Ala-D
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Porphyria, congenital erythropoietic
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Portal hypertension
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Portal hypertension due to infrahepatic block
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Portal thrombosis
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Portal vein thrombosis
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Portuguese type amyloidosis
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Positive rheumatoid factor polyarthritis
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Post Polio syndrome
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Postaxial polydactyly mental retardation
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Posterior column ataxia
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Posterior column ataxia with retinitis pigmentosa
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Posterior tibial tendon rupture
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Posterior urethral valves
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Posterior valve urethra
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Post-infectious myocarditis
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Post-infectious reactive arthropathy
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Post-Streptococcal Neurologic Disorders
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Post-transplant lymphoproliferative disease
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Post-traumatic epilepsy
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Postural hypotension
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Postural orthostatic tachycardia syndrome
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Potassium aggravated myotonia
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Potato nose
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Potocki-Lupski syndrome
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Potocki-Shaffer syndrome
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Potter disease type 1
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Potter disease, type 3
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Potter sequence cleft cardiopathy
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Potter syndrome dominant type
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Powell Buist Stenzel syndrome
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Powell Chandra Saal syndrome
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Powell Venencie Gordon syndrome
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Poxviridae disease
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Prader-Willi habitus, osteopenia, and camptodactyly
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Prader-Willi syndrome
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Prata Libéral Gonçalves syndrome
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Preaxial deficiency, postaxial polydactyly and hypospadias
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Preaxial polydactyly colobomata mental retardation
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Precocious epileptic encephalopathy
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Precocious myoclonic encephalopathy
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Precocious puberty
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Precocious puberty, gonadotropin-dependent
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Preeyasombat Varavithya syndrome
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Prekallikrein deficiency, congenital
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Premature aging
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Premature aging, Okamoto type
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Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, an
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Premature ovarian failure, familial
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Presbycusis
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Presenile dementia, Kraepelin type
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Priapism
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Prieto X-linked mental retardation syndrome
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Primary agammaglobulinemia
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Primary aldosteronism
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Primary amebic meningoencephalitis
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Primary angiitis of the central nervous system
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Primary biliary cirrhosis
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Primary ciliary dyskinesia
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Primary ciliary dyskinesia, 2
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Primary ciliary dyskinesia, 3
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Primary ciliary dyskinesia, 4
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Primary cortisol resistance
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Primary craniosynostosis
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Primary cutaneous amyloidosis
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Primary effusion lymphoma
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Primary familial xanthomatosis with involvement and calcification of the adrenal galnds
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Primary gastrointestinal melanoma
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Primary granulocytic sarcoma
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Primary hyperoxaluria type 1
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Primary hyperoxaluria type 2
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Primary immunodeficiency disorders
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Primary lateral sclerosis juvenile
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Primary malignant lymphoma
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Primary malignant melanoma of the cervix
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Primary malignant melanoma of the conjunctiva
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Primary open angle glaucoma juvenile onset 1
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Primary orthostatic tremor
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Primary progressive aphasia
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Primary release disorder of platelets
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Primary sclerosing cholangitis
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Primary tubular proximal acidosis
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Primordial microcephalic dwarfism Crachami type
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Primrose syndrome
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Prinzmetal's variant angina
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Procarcinoma
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Proconvertin deficiency, congenital
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Proctitis
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Progeria short stature pigmented nevi
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Progeria variant syndrome Ruvalcaba type
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Progeroid syndrome De Barsy type
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Progeroid syndrome Petty type
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Progeroid syndrome, Penttinen type
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Prognathism dominant
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Prognathism, mandibular
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Progressive acromelanosis
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Progressive black carbon hyperpigmentation of infancy
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Progressive external ophthalmoplegia
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Progressive hearing loss stapes fixation
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Progressive hemifacial atrophy
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Progressive kinking of the hair, acquired
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Progressive multifocal leukoencephalopathy
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Progressive myositis ossificans
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Progressive osseous heteroplasia
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Progressive spinal muscular atrophy
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Progressive supranuclear palsy
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Progressive supranuclear palsy atypical
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Prolactinoma, familial
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Prolerating trichilemmal cyst
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Prolidase deficiency
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Properdin deficiency
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Properdin deficiency, X-linked
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Propionic acidemia
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Prosencephaly cerebellar dysgenesis
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Prosopagnosia, hereditary
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Prostate cancer, familial
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Prostatic malacoplakia associated with prostatic abscess
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Prostatic stromal proliferation of uncertain malignant potential
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Protein R deficiency
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Protein S acquired deficiency
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Protein S deficiency
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Proteus like syndrome mental retardation eye defect
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Proteus syndrome
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Prothrombin deficiency
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Protoporphyria
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Proud Levine Carpenter syndrome
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Proximal spinal muscular atrophy
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Prune belly syndrome
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Prurigo nodularis
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Pruritic urticarial papules plaques of pregnancy
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Pseudoachondroplasia
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Pseudoachondroplastic dysplasia 2
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Pseudoainhum
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Pseudoaldosteronism
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Pseudoaminopterin syndrome
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Pseudoangiomatous stromal hyperplasia
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Pseudoarylsulfatase A deficiency
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Pseudocholinesterase deficiency
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Pseudodiastrophic dysplasia
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Pseudohermaphrodism anorectal anomalies
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Pseudohermaphroditism
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Pseudohermaphroditism female skeletal anomalies
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Pseudohermaphroditism male with gynecomastia
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Pseudohyperkalemia Cardiff
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Pseudohypoaldosteronism type 1, autosomal dominant
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Pseudohypoaldosteronism type 1, autosomal recessive
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Pseudohypoaldosteronism type 2
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Pseudohypoparathyroidism
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Pseudoinflammatory fundus dystrophy
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Pseudomarfanism
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Pseudomonas stutzeri infections
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Pseudomongolism
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Pseudomyotonia
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Pseudomyxoma peritonei
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Pseudoobstruction idiopathic intestinal
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Pseudopapilledema blepharophimosis hand anomalies
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Pseudo-Pelade of Brocq
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Pseudopolycythaemia
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Pseudoprogeria syndrome
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Pseudotrisomy 13 syndrome
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Pseudotumor cerebri
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Pseudo-Turner syndrome
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Pseudovaginal perineoscrotal hypospadias
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Pseudoxanthoma elasticum
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Pseudoxanthoma elasticum, dominant form
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Pseudoxanthoma elasticum, forme fruste
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Pseudoxanthoma elasticum, recessive form
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Pseudo-Zellweger syndrome
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Psittacosis
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Pterigium Colli
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Pterygia mental retardation facial dysmorphism
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Pterygium colli mental retardation digital anomalies
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Pterygium of the conjunctiva
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Pterygium syndrome antecubital
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Pterygium syndrome multiple dominant type
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Pterygium syndrome X-linked
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Ptosis coloboma mental retardation
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Ptosis coloboma trigonocephaly
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Ptosis strabismus diastasis
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Ptosis strabismus ectopic pupils
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Pulmonar arterioveinous aneurysm
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Pulmonary alveolar proteinosis, acquired
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Pulmonary alveolar proteinosis, congenital
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Pulmonary arterio-veinous fistula
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Pulmonary arteriovenous malformation
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Pulmonary artery agenesis
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Pulmonary artery coming from the aorta
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Pulmonary artery familial dilatation
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Pulmonary artery, isolated unilateral absence of (Isolated UAPA)
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Pulmonary artery, unilateral absence of (UAPA)
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Pulmonary atresia with ventricular septal defect
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Pulmonary branches stenosis
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Pulmonary cystic lymphangiectasis
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Pulmonary edema of mountaineers
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Pulmonary fibrosis /granuloma
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Pulmonary hypoplasia familial primary
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Pulmonary sequestration
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Pulmonary supravalvular stenosis
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Pulmonary surfactant protein B, deficiency of
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Pulmonary valve stenosis
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Pulmonary valves agenesis
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Pulmonary veins stenosis
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Pulmonary venoocclusive disease
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Pulmonary venous return anomaly
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Pulmonaryatresia intact ventricular septum
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Pulmonic stenosis
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Punctate acrokeratoderma freckle like pigmentation
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Punctate inner choroidopathy
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Pure red cell aplasia
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Puretic syndrome
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Purine nucleoside phosphorylase deficiency
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Purpura simplex
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Purtilo syndrome
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Pycnodysostosis
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Pyknoachondrogenesis
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Pyle disease
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Pyoderma gangrenosum
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Pyogenic arthritis, pyoderma gangrenosum and acne
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Pyomyositis
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Pyridoxine deficiency
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Pyridoxine-dependent epilepsy
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Pyrimidinemia familial
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Pyropoikilocytosis
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Pyrosis
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Pyruvate carboxylase deficiency
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Pyruvate decarboxylase deficiency
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Pyruvate dehydrogenase deficiency
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Pyruvate dehydrogenase phosphatase deficiency
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Pyruvate kinase deficiency
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Pyruvate kinase deficiency, liver type
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Pyruvate kinase deficiency, muscle type
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