List of diseases (P)

• Pachydermoperiostosis
• Pachygyria
• Pachyonychia congenita Jackson–Lawler type
• Pacman dysplasia
• Paes–Whelan–Modi syndrome
• Paget disease extramammary
• Paget disease juvenile type
• Paget's disease of bone
• 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

• Panayiotopoulos syndrome
• Pancreas agenesis
• Pancreas divisum
• 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
• Panhypopituitarism
• Panic disorder
• Panmyelophthisis aplastic anemia
• Panniculitis
• Panophobia
• Panostotic fibrous dysplasia
• Panthophobia

• Papilledema
• Papillon–Lefèvre syndrome
• Papillitis of the lingual papillae
• Papillitis of the optic nerve
• 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
• Paranoid personality disorder
• Paraomphalocele
• Paraparesis amyotrophy of hands and feet
• Paraphilia
• Paraplegia
• Paraplegia-brachydactyly-cone shaped epiphysis
• Paraplegia-mental retardation-hyperkeratosis
• Parapsoriasis
• Parasitophobia
• Parastremmatic dwarfism
• Parathyroid cancer
• Parathyroid neoplasm
• Paratyphoid fever
• PARC syndrome
• Parenchymatous cortical degeneration of cerebellum
• Paris-Trousseau thrombopenia

• Parkes Weber syndrome
• Parkinson's disease
• Parkinson dementia Steele type
• Parkinsonism early onset mental retardation
• Parkinsonism
• Paronychia
• 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
• Paruresis
• Parvovirus antenatal infection

• Pascuel–Castroviejo syndrome
• Pashayan syndrome
• Passive-aggressive personality disorder
• Patau syndrome
• Patel–Bixler syndrome
• Patella aplasia, coxa vara, tarsal synostosis
• Patella hypoplasia mental retardation
• Patent ductus arteriosus familial
• Patent ductus arteriosus
• 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
• Pediculosis
• Peeling skin syndrome ichthyosis
• PEHO syndrome
• Pelizaeus–Merzbacher brain sclerosis
• Pelizaeus–Merzbacher disease, recessive, acute infantile
• Pelizaeus–Merzbacher disease
• Pelizaeus–Merzbacher leukodystrophy
• Pellagra
• Pellagra like syndrome
• Pellagrophobia
• Pelvic dysplasia arthrogryposis of lower limbs
• Pelvic inflammatory disease
• 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

• Perceptual disorder

• Periarteritis nodosa
• Pericardial constriction with 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
• Periodic limb movement disorder
• Periodontal disease / Periodontitis
• Perioral dermatitis
• Peripartum cardiomyopathy
• Peripheral blood vessel disorder
• Peripheral nervous disorder
• Peripheral neuroectodermal tumor
• Peripheral neuropathy
• Peripheral T-cell lymphoma
• Peripheral type neurofibromatosis
• Perisylvian syndrome
• Peritonitis
• Periventricular laminar heterotopia
• Periventricular leukomalacia

• 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

• PHACE association
• Phacomatosis fourth
• Phacomatosis pigmentokeratotica
• Phacomatosis pigmentovascularis
• Phalacrophobia
• Pharmacophobia
• Pharyngitis
• Phenobarbital antenatal infection
• Phenobarbital embryopathy
• Phenol sulfotransferase deficiency
• Phenothiazine antenatal infection
• Phenylalanine hydroxylase deficiency
• Phenylalaninemia
• Phenylketonuria type II
• Phenylketonuria
• 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
• Phytophotodermatitis

• PIBI(D)S syndrome
• Pica
• Picardi–Lassueur–Little syndrome
• Pick disease
• Pickardt syndrome
• Pie Torcido
• Piebald trait neurologic defects
• Piebaldism
• Piepkorn–Karp–Hickoc syndrome
• Pierre Marie cerbellar ataxia
• Pierre Robin 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
• Pilonidal cyst
• 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

• Podder-Tolmie syndrome
• POEMS syndrome
• Poedimus kyleopecia mental retardation
• 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 (Polio)
• 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

• Pompe's disease
• 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
• 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
• 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)
• Postaxial polydactyly mental retardation
• Posterior tibial tendon rupture
• Posterior urethral valves
• Posterior uveitis
• Posterior valve urethra
• Post-infectious myocarditis
• Post-partum depression
• Post-SSRI sexual dysfunction
• Post-traumatic epilepsy
• Postural hypotension
• Potassium aggravated myotonia
• Potassium deficiency (hypokalemia)
• 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
  • Precocious puberty, gonadotropin-dependent
  • Precocious puberty, male limited
• 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
• Presbyopia

• 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 hyperparathyroidism
• Primary lateral sclerosis
• Primary malignant lymphoma
• Primary muscular atrophy
• 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
• Processing disorder
• Proconvertin deficiency, congenital
• Procrastination
• 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
• Proliferating trichilemmal cyst
• Prolidase deficiency
• Prolymphocytic leukemia
• Properdin deficiency
• Prosencephaly cerebellar dysgenesis
• Prosopamnesia
• Prostaglandin antenatal infection
• Prostate cancer, familial
• Prostatic malacoplakia associated with prostatic abscess
• Prostatitis
• Protein C deficiency
• Protein–energy malnutrition
• 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

Pseudoa–Pseudom

• Pseudoachondroplasia
• Pseudoachondroplastic dysplasia 1
• Pseudoachondroplastic dysplasia
• Pseudoadrenoleukodystrophy
• Pseudoaminopterin syndrome
• Pseudoarylsulfatase A deficiency
• Pseudocholinesterase deficiency
• Pseudo-Gaucher disease
• Pseudogout
• Pseudohermaphrodism anorectal anomalies; see Anorectal malformation
• Pseudohermaphroditism female skeletal anomalies
• Pseudohermaphroditism male with gynecomastia
• Pseudohermaphroditism mental retardation
• Pseudohermaphroditism
• Pseudohypoaldosteronism type 1
• Pseudohypoaldosteronism type 2
• Pseudohypoaldosteronism
• Pseudohypoparathyroidism
• Pseudomarfanism
• Pseudomonas infection
  • Pseudomonas aeruginosa infection
  • Pseudomonas oryzihabitans infection
  • Pseudomonas stutzeri infection
• Pseudomongolism
• Pseudomyxoma peritonei

Pseudoo–Pseudo-Z

• Pseudoobstruction idiopathic intestinal
• Pseudopapilledema
• Pseudopapilledema blepharophimosis hand anomalies
• Pseudopelade 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
• Psoriasis
• Psoriatic arthritis
• Psoriatic rheumatism
• Psychogenic polydipsia
• Psychophysiologic disorders
• Psychosis

• Pubic lice
• Puerperal fever

• 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 Café au lait spot

• Punctate acrokeratoderma freckle like pigmentation
• Punctate inner choroidopathy
• Pure red cell aplasia
• Puretic syndrome
• Purine nucleoside phosphorylase deficiency
• Purpura, Schönlein–Henoch
• Purpura, thrombotic thrombocytopenic
• Purpura
• Purtilo syndrome