List of rare diseases starting with P

This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp .

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Table of contents

1 Pa-Pd
2 Pe-Ph
3 Pi-Pl
4 Pm-Pp
5 Pq-Pt
6 Pu-Pz

Pa-Pd

Pachydermoperiostosis
Pachygyria
Pachyonychia congenita Jackson Lawler type
Pacman syndrome
Paes Whelan Modi syndrome
Paget disease extramammary
Paget disease juvenile type
Paget's disease of the breast
Paget's disease, type 1
Pagon Bird Detter syndrome
Pagon Stephan syndrome
Pai Levkoff syndrome
Palant cleft palate syndrome
Palindromic rheumatism
Pallister-Hall syndrome
Pallister-Killian syndrome
Palmer Pagon syndrome
Palmitoyl-protein thioesterase deficiency
Palmoplantar Keratoderma
Palmoplantar porokeratosis of Mantoux
Palsy cerebral
Pancreas agenesis
Pancreatic adenoma
Pancreatic beta cell agenesis with neonatal diabetes mellitus
Pancreatic cancer
Pancreatic carcinoma, familial
Pancreatic diseases
Pancreatic islet cell neoplasm
Pancreatic islet cell tumors
Pancreatic lipomatosis duodenal stenosis
Pancreatitis, hereditary
Pancreatoblastoma
PANDAS
Panhypopituitarism
Panic disorder
Panmyelophthisis aplastic anemia
Panniculitis
Panophobia
Panostotic fibrous dysplasia
Panthophobia
Papilledema
Papillion-Lefevre syndrome
Papillitis
Papilloma of choroid plexus
Papular mucinosis
Papular urticaria
Paracoccidioidomycosis
Paraganglioma
Parainfluenza virus type 3 antenatal infection
Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita
Paraneoplastic cerebellar degeneration
Paraomphalocele
Paraparesis amyotrophy of hands and feet
Paraplegia
Paraplegia-brachydactyly-cone shaped epiphysis
Paraplegia-mental retardation-hyperkeratosis
Parapsoriasis
Parasitophobia
Parastremmatic dwarfism
Parathyroid cancer
Parathyroid neoplasm
PARC syndrome
Parenchymatous cortical degeneration of cerebellum
Paris-Trousseau thrombopenia
Parkes-Weber syndrome
Parkinson dementia Steele type
Parkinsonism early onset mental retardation
Parkinsonism
Parkinson's disease
Paroxysmal cold hemoglobinuria
Paroxysmal dystonic choreoathetosis
Paroxysmal nocturnal hemoglobinuria
Paroxysmal ventricular fibrillation
Parry-Romberg syndrome
Pars planitis
Parsonage Turner syndrome
Partial agenesis of corpus callosum
Partial atrioventricular canal
Partial deletion of Y
Partial gigantism in context of NF
Partial lissencephaly
Partington Anderson syndrome
Partington Mulley syndrome
Parturiphobia
Parvovirus antenatal infection
Pascuel Castroviejo syndrome
Pashayan syndrome
Pat1
Pat11
Pat111
Pat12
Pat121
Pat13
Pat131
Pat132
Pat14
Pat141
Pat142
Patau syndrome
Patel Bixler syndrome
Patella aplasia, coxa vara, tarsal synostosis
Patella hypoplasia mental retardation
Patent ductus arteriosus familial
Patent ductus arteriosus
Pathophobia
Patterson Lowry syndrome
Patterson pseudoleprechaunism syndrome
Patterson Stevenson syndrome
Pauciarticular chronic arthritis
Pavone Fiumara Rizzo syndrome

Pe-Ph

Peanut Hypersensitivity
Pearson's marrow/pancreas syndrome
Pediatric T-cell leukemia
Peeling skin syndrome ichthyosis
PEHO syndrome
Pelizaeus-Merzbacher brain sclerosis
Pelizaeus-Merzbacher disease, recessive, acute infantile
Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher leukodystrophy
Pellagra like syndrome
Pellagrophobia
Pelvic dysplasia arthrogryposis of lower limbs
Pelvic lipomatosis
Pelvic shoulder dysplasia
Pemphigus and fogo selvagem
Pemphigus foliaceus
Pemphigus vulgaris, familial
Pemphigus vulgaris
Pemphigus
Pena Shokeir syndrome
Pendred syndrome
Penis agenesia
Penoscrotal transposition
Penta X syndrome
Pentalogy of Cantrell
Pentosuria
Penttinen-Aula syndrome
PEPCK 1 deficiency
PEPCK 2 deficiency
PEPCK deficiency, mitochondrial
Peptidic growth factors deficiency
Periarteritis nodosa
Pericardial constriction growth failure
Pericardial defect diaphragmatic hernia
Pericardium absent mental retardation short stature
Pericardium congenital anomaly
Perilymphatic fistula
Perimyositis
Perinatal infections
Periodic disease
Periodic fever, aphthous stomatitis, pharyngitis and adenitis
Periodontitis
Peripartum cardiomyopathy
Peripheral blood vessel disorder
Peripheral nervous disorder
Peripheral neuroectodermal tumor
Peripheral neuropathy
Peripheral T-cell lymphoma
Peripheral type neurofibromatosis
Perisylvian syndrome
Periventricular laminar heterotopia
Pernicious anemia
Perniola Krajewska Carnevale syndrome
Perniosis
Peroxisomal Bifunctional Enzyme Deficiency
Peroxisomal defects
Persistent Mullerian duct syndrome (PMDS)
Persistent parvovirus infection
Persistent sexual arousal syndrome
Persistent truncus arteriosus
Pertussis
Pes planus
Peters anomaly with cataract
Peters anomaly
Peters congenital glaucoma
Petit Fryns syndrome
Petty Laxova Wiedemann syndrome
Peutz-Jeghers syndrome
Peyronie disease
Pfeiffer cardiocranial syndrome
Pfeiffer Hirschfelder Rott syndrome
Pfeiffer Kapferer syndrome
Pfeiffer Mayer syndrome
Pfeiffer Palm Teller syndrome
Pfeiffer Rockelein syndrome
Pfeiffer Singer Zschiesche syndrome
Pfeiffer syndrome
Pfeiffer Tietze Welte syndrome
Pfeiffer type acrocephalosyndactyly
PHACE association
Phacomatosis fourth
Phacomatosis pigmentokeratotica
Phacomatosis pigmentovascularis
Phalacrophobia
Pharmacophobia
Phenobarbital antenatal infection
Phenobarbital embryopathy
Phenol sulfotransferase deficiency
Phenothiazine antenatal infection
Phenylalanine hydroxylase deficiency
Phenylalaninemia
Phenylketonuria type II
Phenylketonuria
Phenylketonurias
Phenylketonuric embryopathy
Pheochromocytoma as part of NF
Pheochromocytoma
Philadelphia-negative chronic myeloid leukemia
Phocomelia contractures absent thumb
Phocomelia ectrodactyly deafness sinus arrhythmia
Phocomelia Schinzel type
Phocomelia syndrome
Phocomelia thrombocytopenia encephalocele
Phosphate diabetes
Phosphoenolpyruvate carboxykinase 1 deficiency
Phosphoenolpyruvate carboxykinase 2 deficiency
Phosphoenolpyruvate carboxykinase deficiency
Phosphoglucomutase deficiency type 1
Phosphoglucomutase deficiency type 2
Phosphoglucomutase deficiency type 3
Phosphoglucomutase deficiency type 4
Phosphoglucomutase deficiency
Phosphoglycerate kinase 1 deficiency
Phosphoglycerate kinase deficiency
Phosphomannoisomerase deficiency
Phosphoribosylpyrophosphate synthetase deficiency
Photoaugliaphobia
Photosensitive epilepsy
Phthiriophobia
Physical urticaria
Phytanic acid oxidase deficiency

Pi-Pl

PIBIDS syndrome
Pica
Picardi-Lassueur-Little syndrome
Pick disease of the brain
Pie Torcido
Piebald trait neurologic defects
Piebaldism
Piepkorn Karp Hickoc syndrome
Pierre Marie cerbellar ataxia
Pierre Robin sequence congenital heart defect talipes
Pierre Robin sequence faciodigital anomaly
Pierre Robin syndrome fetal chondrodysplasia
Pierre Robin syndrome hyperphalangy clinodactyly
Pierre Robin syndrome skeletal dysplasia polydactyly
Pierre Robin's sequence
Pigmentary retinopathy
Pigment-dispersion syndrome
Pigmented villonodular synovitis
Pignata guarino syndrome
Pili canulati
Pili multigemini
Pili torti developmental delay neurological abnormalities
Pili torti nerve deafness
Pili torti onychodysplasia
Pili torti
Pillay syndrome
Pilo dento ungular dysplasia microcephaly
Pilotto syndrome
Pinealoma
Pinheiro Freire Maia Miranda syndrome
Pinsky Di George Harley syndrome
Pinta
Pipecolic acidemia
PIRA
Pitt Hopkins syndrome
Pitt-Rogers-Danks syndrome
Pituitary dwarfism 1
Pityriasis lichenoides chronica
Pityriasis lichenoides et varioliformis acuta
Pityriasis rubra pilaris
Piussan Lenaerts Mathieu syndrome
Placenta disorder
Placenta neoplasm
Plagiocephaly X linked mental retardation
Plasmacytoma anaplastic
Plasmalogenes synthesis deficiency isolated
Plasminogen activitor inhibitor type 1 deficiency, congenital
Plasminogen deficiency, congenital
Platelet disorder
Platyspondylic lethal chondrodysplasia
Platyspondyly amelogenesis imperfecta
Plexosarcoma
Plum syndrome
Plummer-Vinson syndrome

Pm-Pp

Pneumoconiosis
Pneumocystic carinii pneumonia
Pneumocystis carinii Pneumonia
Pneumocystosis
Pneumonia, eosinophilic
Podder-Tolmie syndrome
POEMS syndrome
Poikiloderma congenital with bullae Weary type
Poikiloderma hereditary acrokeratotic Weary type
Poikiloderma of Kindler
Poikiloderma of Rothmund-Thomson
Poikilodermatomyositis mental retardation
Poikilodermia alopecia retrognathism cleft palate
Pointer syndrome
Poland syndrome
Poliomyelitis
Poliosophobia
Polyarteritis nodosa
Polyarteritis
Polyarthritis, systemic
Polyarthritis
Polychondritis
Polycystic kidney disease, adult type
Polycystic kidney disease, infantile type
Polycystic kidney disease, infantile, type I
Polycystic kidney disease, recessive type
Polycystic kidney disease, type 1
Polycystic kidney disease, type 2
Polycystic kidney disease, type 3
Polycystic kidney disease
Polycystic ovarian disease, familial
Polycystic ovarian syndrome
Polycystic ovaries urethral sphincter dysfunction
Polycythemia vera
Polydactyly alopecia seborrheic dermatitis
Polydactyly cleft lip palate psychomotor retardation
Polydactyly myopia syndrome
Polydactyly postaxial dental and vertebral
Polydactyly postaxial with median cleft of upper lip
Polydactyly postaxial
Polydactyly preaxial type 1
Polydactyly syndrome middle ray duplication
Polydactyly visceral anomalies cleft lip palate
Polydactyly
Polyglucosan body disease, adult
Polymicrogyria turricephaly hypogenitalism
Polymorphic catecholergic ventricular tachycardia
Polymorphic macular degeneration
Polymorphous low-grade adenocarcinoma
Polymyalgia rheumatica
Polymyositis
Polyneuritis
Polyneuropathy hand defect
Polyneuropathy mental retardation acromicria prema
Polyomavirus Infections
Polyostotic fibrous dysplasia
Polyposis hamartomatous intestinal
Polyposis skin pigmentation alopecia fingernail changes
Polysyndactyly cardiac malformation
Polysyndactyly microcephaly ptosis
Polysyndactyly orofacial anomalies
Polysyndactyly overgrowth syndrome
Polysyndactyly trigonocephaly agenesis of corpus callosum
Polysyndactyly type 4
Polysyndactyly type Haas
Poncet-Spiegler's cylindroma
Pontoneocerebellar Hypoplasia
Popliteal pterygium syndrome lethal type
Popliteal pterygium syndrome
Porencephaly cerebellar hypoplasia malformations
Porencephaly
Porokeratosis of Mibelli
Porokeratosis plantaris palmaris et disseminata
Porokeratosis punctata palmaris et plantaris
Porphyria cutanea tarda, familial type
Porphyria cutanea tarda, sporadic type
Porphyria cutanea tarda
Porphyria, acute intermittent
Porphyria, Ala-D
Porphyria, congenital erythropoietic
Porphyria, hereditary coproporphyria
Porphyria
Portal hypertension due to infrahepatic block
Portal hypertension
Portal thrombosis
Portal vein thrombosis
Portuguese type amyloidosis
Positive rheumatoid factor polyarthritis
Post Polio syndrome
Post Traumatic Stress disorder (PTSD)
Post Traumatic Stress disorder
Postaxial polydactyly mental retardation
Posterior tibial tendon rupture
Posterior urethral valves
Posterior uveitis
Posterior valve urethra
Post-infectious myocarditis
Post-traumatic epilepsy
Postural hypotension
Potassium aggravated myotonia
Potassium deficiency
Potophobia
Potter disease type 1
Potter disease, type 3
Potter sequence cleft cardiopathy
Potter syndrome dominant type
Powell Buist Stenzel syndrome
Powell Chandra Saal syndrome
Powell Venencie Gordon syndrome
Poxviridae disease

Pq-Pt

Prader-Willi syndrome
Prata Liberal Goncalves syndrome
Preaxial deficiency postaxial polydactyly hypospadia
Preaxial polydactyly colobomata mental retardation
Precocious epileptic encephalopathy
Precocious myoclonic encephalopathy
Precocious puberty, gonadotropin-dependent
Precocious puberty, male limited
Precocious puberty
Preeclampsia
Preeyasombat Viravithya syndrome
Pregnancy toxemia /hypertension
Prekallikrein deficiency, congenital
Premature aging, Okamoto type
Premature aging
Premature atherosclerosis photomyoclonic epilepsy
Premature menopause, familial
Premature ovarian failure
Premenstrual Dysphoric Disorder
Prenatal infections
Presbycusis
Prieto Badia Mulas syndrome
Prieur Griscelli syndrome
Primary agammaglobulinemia
Primary aldosteronism
Primary alveolar hypoventilation
Primary amenorrhea
Primary biliary cirrhosis
Primary ciliary dyskinesia, 2
Primary ciliary dyskinesia
Primary craniosynostosis
Primary cutaneous amyloidosis
Primary granulocytic sarcoma
Primary hyperoxaluria
Primary lateral sclerosis
Primary malignant lymphoma
Primary orthostatic tremor
Primary progressive aphasia
Primary pulmonary hypertension
Primary sclerosing cholangitis
Primary tubular proximal acidosis
Primerose syndrome
Primordial microcephalic dwarfism Crachami type
Prinzmetal's variant angina
Procarcinoma
Proconvertin deficiency, congenital
Proctitis
Progeria short stature pigmented nevi
Progeria variant syndrome Ruvalcaba type
Progeria
Progeroid syndrome De Barsy type
Progeroid syndrome Petty type
Progeroid syndrome, Penttinen type
Prognathism dominant
Progressive acromelanosis
Progressive black carbon hyperpigmentation of infancy
Progressive diaphyseal dysplasia
Progressive external ophthalmoplegia
Progressive hearing loss stapes fixation
Progressive kinking of the hair, acquired
Progressive multifocal leukoencephalopathy
Progressive myositis ossificans
Progressive osseous heteroplasia
Progressive spinal muscular atrophy
Progressive supranuclear palsy atypical
Progressive supranuclear palsy
Progressive systemic sclerosis
Prolactinoma, familial
Prolerating trichilemmal cyst
Prolidase deficiency
Prolymphocytic leukemia
Properdin deficiency
Prosencephaly cerebellar dysgenesis
Prostaglandin antenatal infection
Prostate cancer, familial
Prostatic malacoplakia associated with prostatic abscess
Prostatitis
Protein C deficiency
Protein R deficiency
Protein S acquired deficiency
Protein S deficiency
Proteus like syndrome mental retardation eye defect
Proteus syndrome
Prothrombin deficiency
Protoporphyria, erythropoietic
Protoporphyria
Proud Levine Carpenter syndrome
Proximal myotonic dystrophy
Proximal myotonic myopathy
Proximal spinal muscular atrophy
Proximal tubulopathy diabetes mellitus cerebellar ataxia
Prune belly syndrome
Prurigo nodularis
Psellismophobia
Pseudoachondroplasia
Pseudoachondroplastic dysplasia 1
Pseudoachondroplastic dysplasia
Pseudoadrenoleukodystrophy
Pseudoaminopterin syndrome
Pseudoarylsulfatase A deficiency
Pseudocholinesterase deficiency
Pseudo-Gaucher disease
Pseudogout
Pseudohermaphrodism anorectal anomalies
Pseudohermaphroditism female skeletal anomalies
Pseudohermaphroditism male with gynecomastia
Pseudohermaphroditism mental retardation
Pseudohermaphroditism
Pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2
Pseudohypoaldosteronism
Pseudohypoparathyroidism
Pseudomarfanism
Pseudomonas stutzeri infections
Pseudomongolism
Pseudomyxoma peritonei
Pseudoobstruction idiopathic intestinal
Pseudopapilledema blepharophimosis hand anomalies
Pseudo-Pelade of Brocq
Pseudopolycythaemia
Pseudoprogeria syndrome
Pseudo-torch syndrome
Pseudotumor cerebri
Pseudo-Turner syndrome
Pseudovaginal perineoscrotal hypospadias
Pseudoxanthoma elasticum, dominant form
Pseudoxanthoma elasticum, recessive form
Pseudoxanthoma elasticum
Pseudo-Zellweger syndrome
Psittacosis
Psoriatic arthritis
Psoriatic rheumatism
Psychophysiologic Disorders
Pterigium Colli
Pteromerhanophobia
Pterygia mental retardation facial dysmorphism
Pterygium colli mental retardation digital anomalies
Pterygium of the conjunctiva
Pterygium syndrome antecubital
Pterygium syndrome multiple dominant type
Pterygium syndrome X linked
Pterygium syndrome, multiple
Ptosis coloboma mental retardation
Ptosis coloboma trigonocephaly
Ptosis strabismus diastasis
Ptosis strabismus ectopic pupils

Pu-Pz

Pulmonar arterioveinous aneurysm
Pulmonary agenesis
Pulmonary alveolar proteinosis, congenital
Pulmonary alveolar proteinosis
Pulmonary arterio-veinous fistula
Pulmonary artery agenesis
Pulmonary artery coming from the aorta
Pulmonary artery familial dilatation
Pulmonary atresia with ventricular septal defect
Pulmonary blastoma
Pulmonary branches stenosis
Pulmonary cystic lymphangiectasis
Pulmonary Disease, Chronic Obstructive
Pulmonary edema of mountaineers
Pulmonary fibrosis /granuloma
Pulmonary Hypertension, Secondary
Pulmonary hypertension
Pulmonary hypoplasia familial primary
Pulmonary sequestration
Pulmonary supravalvular stenosis
Pulmonary surfactant protein B, deficiency of
Pulmonary valve stenosis
Pulmonary valves agenesis
Pulmonary veins stenosis
Pulmonary veno-occlusive disease
Pulmonary venous return anomaly
Pulmonaryatresia intact ventricular septum
Pulmonic stenosis with cafe-au-lait spots
Punctate acrokeratoderma freckle like pigmentation
Punctate inner choroidopathy
Pupaphobia
Pure red cell aplasia
Puretic syndrome
Purine nucleoside phosphorylase deficiency
Purpura, Schoenlein-Henoch
Purpura, thrombotic thrombocytopenic
Purpura
Purtilo syndrome
Pycnodysostosis
Pyknoachondrogenesis
Pyle disease
Pyoderma gangrenosum
Pyomyositis
Pyrexiophobia
Pyridoxine deficit
Pyrimidinemia familial
Pyrophobia
Pyropoikilocytosis
Pyrosis
Pyruvate carboxylase deficiency
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase deficiency
Pyruvate kinase deficiency, liver type
Pyruvate kinase deficiency, muscle type
Pyruvate kinase deficiency