| PEPCK deficiency, mitochondrial |
| Pachyonychia congenita Jackson Lawler type |
| Paes Whelan Modi syndrome |
| Paget disease extramammary |
| Paget disease juvenile type |
| Paget's disease of the breast |
| Pagon Bird Detter syndrome |
| Palant cleft palate syndrome |
| Pallister-Killian syndrome |
| Palmitoyl-protein thioesterase deficiency |
| Palmoplantar porokeratosis of Mantoux |
| Pancreatic beta cell agenesis with neonatal diabetes mellitus |
| Pancreatic carcinoma, familial |
| Pancreatic islet cell neoplasm |
| Pancreatic islet cell tumors |
| Pancreatic lipomatosis duodenal stenosis |
| Panmyelophthisis aplastic anemia |
| Panostotic fibrous dysplasia |
| Papillion-Lefevre syndrome |
| Papilloma of choroid plexus |
| Parainfluenza virus type 3 antenatal infection |
| Paramyotonia congenita of Von Eulenburg |
| Paraneoplastic cerebellar degeneration |
| Paraparesis amyotrophy of hands and feet |
| Paraplegia-brachydactyly-cone shaped epiphysis |
| Paraplegia-mental retardation-hyperkeratosis |
| Parenchymatous cortical degeneration of cerebellum |
| Paris-Trousseau thrombopenia |
| Parkinson dementia Steele type |
| Parkinsonism early onset mental retardation |
| Paroxysmal cold hemoglobinuria |
| Paroxysmal dystonic choreoathetosis |
| Paroxysmal nocturnal hemoglobinuria |
| Paroxysmal ventricular fibrillation |
| Parsonage Turner syndrome |
| Partial agenesis of corpus callosum |
| Partial atrioventricular canal |
| Partial gigantism in context of NF |
| Partington Anderson syndrome |
| Partington Mulley syndrome |
| Parvovirus antenatal infection |
| Pascuel Castroviejo syndrome |
| Patella aplasia, coxa vara, tarsal synostosis |
| Patella hypoplasia mental retardation |
| Patent ductus arteriosus familial |
| Patterson Stevenson syndrome |
| Patterson pseudoleprechaunism syndrome |
| Pauciarticular chronic arthritis |
| Pavone Fiumara Rizzo syndrome |
| Pearson's marrow/pancreas syndrome |
| Pediatric T-cell leukemia |
| Peeling skin syndrome ichthyosis |
| Pelizaeus-Merzbacher brain sclerosis |
| Pelizaeus-Merzbacher disease |
| Pelizaeus-Merzbacher disease, recessive, acute infantile |
| Pelizaeus-Merzbacher leukodystrophy |
| Pelvic dysplasia arthrogryposis of lower limbs |
| Pelvic inflammatory disease |
| Pelvic shoulder dysplasia |
| Pemphigus and fogo selvagem |
| Pemphigus vulgaris, familial |
| Penoscrotal transposition |
| Peptidic growth factors deficiency |
| Pericardial constriction growth failure |
| Pericardial defect diaphragmatic hernia |
| Pericardium absent mental retardation short stature |
| Pericardium congenital anomaly |
| Periodic fever, aphthous stomatitis, pharyngitis and adenitis |
| Peripartum cardiomyopathy |
| Peripheral T-cell lymphoma |
| Peripheral blood vessel disorder |
| Peripheral nervous disorder |
| Peripheral neuroectodermal tumor |
| Peripheral type neurofibromatosis |
| Periventricular laminar heterotopia |
| Periventricular leukomalacia |
| Perniola Krajewska Carnevale syndrome |
| Peroxisomal Bifunctional Enzyme Deficiency |
| Persistent Mullerian duct syndrome (PMDS) |
| Persistent parvovirus infection |
| Persistent sexual arousal syndrome |
| Persistent truncus arteriosus |
| Peters anomaly with cataract |
| Peters congenital glaucoma |
| Petty Laxova Wiedemann syndrome |
| Pfeiffer Hirschfelder Rott syndrome |
| Pfeiffer Kapferer syndrome |
| Pfeiffer Palm Teller syndrome |
| Pfeiffer Rockelein syndrome |
| Pfeiffer Singer Zschiesche syndrome |
| Pfeiffer Tietze Welte syndrome |
| Pfeiffer cardiocranial syndrome |
| Pfeiffer type acrocephalosyndactyly |
| Phacomatosis pigmentokeratotica |
| Phacomatosis pigmentovascularis |
| Phenobarbital antenatal infection |
| Phenobarbital embryopathy |
| Phenol sulfotransferase deficiency |
| Phenothiazine antenatal infection |
| Phenylalanine hydroxylase deficiency |
| Phenylketonuric embryopathy |
| Pheochromocytoma as part of NF |
| Philadelphia-negative chronic myeloid leukemia |
| Phocomelia contractures absent thumb |
| Phocomelia ectrodactyly deafness sinus arrhythmia |
| Phocomelia thrombocytopenia encephalocele |
| Phosphoenolpyruvate carboxykinase 1 deficiency |
| Phosphoenolpyruvate carboxykinase 2 deficiency |
| Phosphoenolpyruvate carboxykinase deficiency |
| Phosphoglucomutase deficiency |
| Phosphoglucomutase deficiency type 1 |
| Phosphoglucomutase deficiency type 2 |
| Phosphoglucomutase deficiency type 3 |
| Phosphoglucomutase deficiency type 4 |
| Phosphoglycerate kinase 1 deficiency |
| Phosphoglycerate kinase deficiency |
| Phosphomannoisomerase deficiency |
| Phosphoribosylpyrophosphate synthetase deficiency |
| Phytanic acid oxidase deficiency |
| Picardi-Lassueur-Little syndrome |
| Pick disease of the brain |
| Piebald trait neurologic defects |
| 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 |
| Pigment-dispersion syndrome |
| Pigmented villonodular synovitis |
| Pili torti developmental delay neurological abnormalities |
| Pili torti nerve deafness |
| Pili torti onychodysplasia |
| Pilo dento ungular dysplasia microcephaly |
| Pinheiro Freire Maia Miranda syndrome |
| Pinsky Di George Harley syndrome |
| Pitt-Rogers-Danks syndrome |
| Pityriasis lichenoides chronica |
| Pityriasis lichenoides et varioliformis acuta |
| Piussan Lenaerts Mathieu syndrome |
| Plagiocephaly X linked mental retardation |
| Plasmalogenes synthesis deficiency isolated |
| Plasminogen activitor inhibitor type 1 deficiency, congenital |
| Plasminogen deficiency, congenital |
| Platyspondylic lethal chondrodysplasia |
| Platyspondyly amelogenesis imperfecta |
| Pneumocystis jiroveci pneumonia |
| Pneumonoultramicroscopicsilicovolcanoconiosis |
| Poedimus kyleopecia mental retardation |
| Poikiloderma congenital with bullae Weary type |
| Poikiloderma hereditary acrokeratotic Weary type |
| Poikiloderma of Rothmund-Thomson |
| Poikilodermatomyositis mental retardation |
| Poikilodermia alopecia retrognathism cleft palate |
| Polycystic kidney disease |
| 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 ovarian disease, familial |
| Polycystic ovarian syndrome |
| Polycystic ovaries urethral sphincter dysfunction |
| 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 preaxial type 1 |
| Polydactyly syndrome middle ray duplication |
| Polydactyly visceral anomalies cleft lip palate |
| Polyglucosan body disease, adult |
| Polymicrogyria turricephaly hypogenitalism |
| Polymorphic catecholergic ventricular tachycardia |
| Polymorphic macular degeneration |
| Polymorphous low-grade adenocarcinoma |
| Polyneuropathy hand defect |
| Polyneuropathy mental retardation acromicria prema |
| 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 |
| Poncet-Spiegler's cylindroma |
| Pontoneocerebellar Hypoplasia |
| Popliteal pterygium syndrome |
| Popliteal pterygium syndrome lethal type |
| Porencephaly cerebellar hypoplasia malformations |
| Porokeratosis plantaris palmaris et disseminata |
| Porokeratosis punctata palmaris et plantaris |
| Porphyria cutanea tarda, familial type |
| Porphyria cutanea tarda, sporadic type |
| Porphyria, acute intermittent |
| Porphyria, congenital erythropoietic |
| Porphyria, hereditary coproporphyria |
| Portal hypertension due to infrahepatic block |
| Portuguese type amyloidosis |
| Positive rheumatoid factor polyarthritis |
| Post Traumatic Stress disorder (PTSD) |
| Post-infectious myocarditis |
| Postaxial polydactyly mental retardation |
| Posterior tibial tendon rupture |
| Posterior urethral valves |
| Potassium aggravated myotonia |
| Potassium deficiency (hypokalemia) |
| Potter sequence cleft cardiopathy |
| Potter syndrome dominant type |
| Powell Buist Stenzel syndrome |
| Powell Chandra Saal syndrome |
| Powell Venencie Gordon 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 |
| Preeyasombat Viravithya syndrome |
| Pregnancy toxemia /hypertension |
| Prekallikrein deficiency, congenital |
| Premature aging, Okamoto type |
| Premature atherosclerosis photomyoclonic epilepsy |
| Premature menopause, familial |
| Premature ovarian failure |
| Premenstrual dysphoric disorder |
| Prieto Badia Mulas syndrome |
| Prieur Griscelli syndrome |
| Primary agammaglobulinemia |
| Primary alveolar hypoventilation |
| Primary biliary cirrhosis |
| Primary ciliary dyskinesia |
| Primary ciliary dyskinesia, 2 |
| Primary cutaneous amyloidosis |
| Primary granulocytic sarcoma |
| Primary hyperparathyroidism |
| Primary lateral sclerosis |
| Primary malignant lymphoma |
| Primary orthostatic tremor |
| Primary progressive aphasia |
| Primary pulmonary hypertension |
| Primary sclerosing cholangitis |
| Primary tubular proximal acidosis |
| Primordial microcephalic dwarfism Crachami type |
| Prinzmetal's variant angina |
| Proconvertin deficiency, congenital |
| Progeria short stature pigmented nevi |
| Progeria variant syndrome Ruvalcaba type |
| Progeroid syndrome De Barsy type |
| Progeroid syndrome Petty type |
| Progeroid syndrome, Penttinen type |
| 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 |
| Progressive supranuclear palsy atypical |
| Progressive systemic sclerosis |
| Prolerating trichilemmal cyst |
| Prosencephaly cerebellar dysgenesis |
| Prostaglandin antenatal infection |
| Prostate cancer, familial |
| Prostatic malacoplakia associated with prostatic abscess |
| Protein S acquired deficiency |
| Protein-energy malnutrition |
| Proteus like syndrome mental retardation eye defect |
| Protoporphyria, erythropoietic |
| Proud Levine Carpenter syndrome |
| Proximal myotonic dystrophy |
| Proximal myotonic myopathy |
| Proximal spinal muscular atrophy |
| Proximal tubulopathy diabetes mellitus cerebellar ataxia |
| Pseudo-Zellweger syndrome |
| Pseudoachondroplastic dysplasia |
| Pseudoachondroplastic dysplasia 1 |
| Pseudoadrenoleukodystrophy |
| Pseudoaminopterin syndrome |
| Pseudoarylsulfatase A deficiency |
| Pseudocholinesterase deficiency |
| Pseudohermaphrodism anorectal anomalies |
| Pseudohermaphroditism female skeletal anomalies |
| Pseudohermaphroditism male with gynecomastia |
| Pseudohermaphroditism mental retardation |
| Pseudohypoaldosteronism type 1 |
| Pseudohypoaldosteronism type 2 |
| Pseudomonas stutzeri infections |
| Pseudoobstruction idiopathic intestinal |
| Pseudopapilledema blepharophimosis hand anomalies |
| Pseudovaginal perineoscrotal hypospadias |
| Pseudoxanthoma elasticum, dominant form |
| Pseudoxanthoma elasticum, recessive form |
| Psychophysiologic Disorders |
| Pterygia mental retardation facial dysmorphism |
| Pterygium colli mental retardation digital anomalies |
| Pterygium of the conjunctiva |
| Pterygium syndrome X linked |
| Pterygium syndrome antecubital |
| Pterygium syndrome multiple dominant type |
| Pterygium syndrome, multiple |
| Ptosis coloboma mental retardation |
| Ptosis coloboma trigonocephaly |
| Ptosis strabismus diastasis |
| Ptosis strabismus ectopic pupils |
| Pulmonar arterioveinous aneurysm |
| Pulmonary Disease, Chronic Obstructive |
| Pulmonary Hypertension, Secondary |
| Pulmonary alveolar proteinosis |
| Pulmonary alveolar proteinosis, congenital |
| Pulmonary arterio-veinous fistula |
| Pulmonary artery agenesis |
| Pulmonary artery coming from the aorta |
| Pulmonary artery familial dilatation |
| Pulmonary atresia with ventricular septal defect |
| Pulmonary branches stenosis |
| Pulmonary cystic lymphangiectasis |
| Pulmonary edema of mountaineers |
| Pulmonary fibrosis /granuloma |
| Pulmonary hypoplasia familial primary |
| Pulmonary supravalvular stenosis |
| Pulmonary surfactant protein B, deficiency of |
| Pulmonary valves agenesis |
| Pulmonary veno-occlusive disease |
| Pulmonary venous return anomaly |
| Pulmonaryatresia intact ventricular septum |
| Punctate acrokeratoderma freckle like pigmentation |
| Punctate inner choroidopathy |
| Purine nucleoside phosphorylase deficiency |
| Purpura, Schoenlein-Henoch |
| Purpura, thrombotic thrombocytopenic |
| Pyruvate carboxylase deficiency |
| Pyruvate decarboxylase deficiency |
| Pyruvate dehydrogenase deficiency |
| Pyruvate kinase deficiency |
| Pyruvate kinase deficiency, liver type |
| Pyruvate kinase deficiency, muscle type |
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