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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/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 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[?]
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