Main Page | See live article | Alphabetical index 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 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 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 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 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 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 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 This article is from 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