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OBSOLETE: Palpebral epidermal tumorRetired termView → OBSOLETE: Palpebral lentiginosisRetired termView → OBSOLETE: Palpebral malignant melanomaRetired termView → OBSOLETE: Palpebral nevusRetired termView → OBSOLETE: Palpebral piliary tumorRetired termView → OBSOLETE: Palpebral sebaceous gland tumorRetired termView → OBSOLETE: Palpebral tumorRetired termView → OBSOLETE: Palpebral tumor with a vascular malformationRetired termView → OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitusRetired termView → OBSOLETE: Papillary carcinoma of the cervix uteriOncologyRetired termView → OBSOLETE: Papillary fibroelastoma of the heartRetired termView → OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndromeRetired termView → OBSOLETE: Partial prune belly syndromeRetired termView → OBSOLETE: Patella aplasia/hypoplasia, bilateralRetired termView → OBSOLETE: Patella aplasia/hypoplasia, unilateralRetired termView → OBSOLETE: Pediatric Castleman diseaseRetired termView → OBSOLETE: Pediatric polyarteritis nodosaRetired termView → OBSOLETE: Pediatric Sjögren syndromeRetired termView → OBSOLETE: Pediatric systemic sclerosisRetired termView → OBSOLETE: Peeling skin syndrome type CRetired termView → OBSOLETE: Peripheral dysostosisConnective TissueRetired termView → OBSOLETE: Peripheral resistance to thyroid hormonesEndocrineRetired termView → OBSOLETE: Perlecan-related bone disorderRetired termView → OBSOLETE: Peters anomaly-cataract syndromeRetired termView → OBSOLETE: Phakomatosis with eye involvementRetired termView → OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndromeCardiovascularRetired termView → OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiencyRetired termView → OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiencyRetired termView → OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomaliesRetired termView → OBSOLETE: Pigeon-breeder lung diseaseRetired termView → OBSOLETE: Pigmentation disorder with eye involvementRetired termView → OBSOLETE: Pigmentation disorder with eye involvement, excluding albinismRetired termView → OBSOLETE: Pigmented conjunctival lesionRetired termView → OBSOLETE: Pigmented palpebral tumorRetired termView → OBSOLETE: Pili canulatiRetired termView → OBSOLETE: Pilotto syndromeRetired termView → OBSOLETE: Pitt-Hopkins-like syndromeRetired termView → OBSOLETE: Pituitary deficiency secondary to an anevrysmEndocrineRetired termView → OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhageEndocrineRetired termView → OBSOLETE: Platelet function disease associated with renal insufficiencyRenalRetired termView → OBSOLETE: Platelet storage pool diseaseRetired termView → OBSOLETE: Platyspondylic lethal chondrodysplasiaRetired termView → OBSOLETE: Pleomorphic salivary gland adenomaRetired termView → OBSOLETE: Pleomorphic undifferentiated sarcomaOncologyRetired termView → OBSOLETE: Polydactyly of a biphalangeal thumb, bilateralRetired termView → OBSOLETE: Polydactyly of a biphalangeal thumb, unilateralRetired termView → OBSOLETE: Polydactyly of a triphalangeal thumb, bilateralRetired termView → OBSOLETE: Polydactyly of a triphalangeal thumb, unilateralRetired termView → OBSOLETE: Polydactyly of an index finger, bilateralRetired termView → OBSOLETE: Polydactyly of an index finger, unilateralRetired termView → OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndromeNeurologicalRetired termView → OBSOLETE: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodiesRetired termView → OBSOLETE: Polysyndactyly, bilateralRetired termView → OBSOLETE: Polysyndactyly, unilateralRetired termView → OBSOLETE: Pore-loop channelopathyRetired termView → OBSOLETE: Postaxial polydactyly of fingersRetired termView → OBSOLETE: Postaxial polydactyly of toesRetired termView → OBSOLETE: Postaxial polydactyly of toes, bilateralRetired termView → OBSOLETE: Postaxial polydactyly of toes, unilateralRetired termView → OBSOLETE: Postaxial polydactyly type A, bilateralRetired termView → OBSOLETE: Postaxial polydactyly type A, unilateralRetired termView → OBSOLETE: Postaxial polydactyly type B, bilateralRetired termView → OBSOLETE: Postaxial polydactyly type B, unilateralRetired termView → OBSOLETE: Posterior fossa tumorsRetired termView → OBSOLETE: Postinfectious encephalitisRetired termView → OBSOLETE: Postsurgical hypopituitarismRetired termView → OBSOLETE: Posttraumatic diabetes insipidusRetired termView → OBSOLETE: Posttraumatic hypopituitarismRetired termView → OBSOLETE: Posttraumatic syringomyeliaRetired termView → OBSOLETE: Preaxial polydactyly of fingersRetired termView → OBSOLETE: Preaxial polydactyly of toesRetired termView → OBSOLETE: Preaxial polydactyly of toes, bilateralRetired termView → OBSOLETE: Preaxial polydactyly of toes, unilateralRetired termView → OBSOLETE: Precancerous lesion of palpebral epidermisRetired termView → OBSOLETE: Preeyasombat-Varavithya syndromeRetired termView → OBSOLETE: Primary glomerular diseaseRenalRetired termView → OBSOLETE: Primary intraocular lymphomaBloodRetired termView → OBSOLETE: Primary lymphedema with associated anomaliesRetired termView → OBSOLETE: Primary parathyroid hyperplasiaEndocrineRetired termView → OBSOLETE: Primary peritoneal serous/papillary carcinomaOncologyRetired termView → OBSOLETE: Primary pigmented nodular adrenocortical diseaseRetired termView → OBSOLETE: Primary syringomyelia/hydromyeliaRetired termView → OBSOLETE: Primary T cell immunodeficiencyImmuneRetired termView → OBSOLETE: Progeria-associated arthropathyRetired termView → OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major featureNeurologicalRetired termView → OBSOLETE: Protease inhibitor anomalyRetired termView → OBSOLETE: Proton-pump inhibitor-responsive esophageal eosinophiliaRetired termView → OBSOLETE: Pulmonary aortic stenosis obstructive uropathyRespiratoryRetired termView → OBSOLETE: Pulmonary artery/pulmonary branch anomalyRespiratoryRetired termView → PachydermoperiostosisView → Pachygyria-intellectual disability-epilepsy syndromeNeurologicalView → Pachyonychia Congenita2 recruitingDermatologicalView → Paget disease of the nippleView → PAGOD syndromeView → Pai syndrome3 recruitingView → PAICS deficiencyView → Painful legs and moving toes syndromeView → Painful orbital and systemic neurofibromas-marfanoid habitus syndromeConnective TissueView → Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeView → Pallister-Hall syndromeView → Pallister-Killian syndromeView → Palmoplantar keratoderma with tonotubular keratinRenalView → Palmoplantar keratoderma-deafness syndromeDermatologicalView → Palmoplantar keratoderma-esophageal carcinoma syndromeDermatologicalView → Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndromeDermatologicalView → Palmoplantar keratoderma-spastic paralysis syndromeDermatologicalView → Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndromeDermatologicalView → Palmoplantar keratoderma, Nagashima typeDermatologicalView → Palmoplantar porokeratosis of MantouxDermatologicalView → Pancreatic agenesis-holoprosencephaly syndromeView → Pancreatic arteriovenous malformation1 recruitingView → Pancreatic colipase deficiencyView → Pancreatic hypoplasia-diabetes-congenital heart disease syndromeView → Pancreatic insufficiency-anemia-hyperostosis syndromeBloodView → Pancreatic solid pseudopapillary neoplasm3 recruitingView → Pancreatic triacylglycerol lipase deficiencyView → PancreatoblastomaOncologyView → Pancytopenia-developmental delay syndromeView → PANDAS3 recruitingView → PanhypophysitisView → Panner diseaseView → Panniculitis-induced localized lipodystrophyView → Pantothenate kinase-associated neurodegeneration2 recruitingNeurologicalView → PanuveitisGroupView → PAPA syndromeView → PAPASH syndromeView → Papillary glioneuronal tumor1 recruitingView → Papillary hemangiomaView → Papillary intralymphatic angioendotheliomaView → Papillary renal cell carcinoma10 recruitingRenalView → Papillary tumor of the pineal regionView → Papilloma of choroid plexusView → Papillon-Lefèvre syndromeView → Papular elastorrhexisView → Papular mucinosis of infancyView → Papular xanthomaView → Parachute tricuspid valveView → ParacoccidioidomycosisView → ParagonimiasisView → Paralytic facial malformationGroupView → Paramedian nasal cleftView → Paramyotonia congenita of Von EulenburgNeuromuscularView → Parana hard skin syndromeView → Paraneoplastic acute exudative polymorphous vitelliform maculopathyView → Paraneoplastic cerebellar degeneration3 recruitingNeurologicalView → Paraneoplastic isolated brainstem encephalitisView → Paraneoplastic neurologic syndromeGroupView → Paraneoplastic pemphigusDermatologicalView → Paraneoplastic sensory ganglionopathyView → Paraneoplastic uveitisView → Paraparetic variant of Guillain-Barré syndromeView → Paraplegia-intellectual disability-hyperkeratosis syndromeView → Paraquat poisoningView → Parasitic myositisGroupView → Paraspinal arteriovenous malformationView → Parastremmatic dysplasiaView → Paratesticular adenocarcinomaOncologyView → Parathyroid carcinoma8 recruitingEndocrineView → Paratyphoid fever1 recruitingView → PARC syndromeView → Parietal encephaloceleView → Parietal foramina with clavicular hypoplasiaView → Paris-Trousseau thrombocytopeniaBloodView → Parkes Weber syndrome7 recruitingView → Parkinson-dementia complex of GuamNeurologicalView → Parkinsonian-pyramidal syndrome1 recruitingNeurologicalView → Parkinsonism with polyneuropathy1 recruitingNeurologicalView → Paroxysmal cold hemoglobinuriaView → Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity1 recruitingNeurologicalView → Paroxysmal exertion-induced dyskinesiaView → Paroxysmal extreme pain disorderView → Paroxysmal hemicrania2 recruitingView → Paroxysmal hypnogenic dyskinesiaView → Paroxysmal kinesigenic dyskinesia3 recruitingView → Paroxysmal Nocturnal Hemoglobinuria29 recruitingBloodView → Paroxysmal non-kinesigenic dyskinesiaView → Partial androgen insensitivity syndrome1 recruitingView → Partial atrioventricular septal defectView → Partial atrioventricular septal defect with ventricular hypoplasiaView → Partial atrioventricular septal defect without ventricular hypoplasiaView → Partial autosomal deletion syndromeGroupView → Partial autosomal duplication/triplication syndromeGroupView → Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndromeNeurologicalView → Partial cryptophthalmiaOphthalmologicalView → Partial deletion of chromosome 1 syndromeGroupView → Partial deletion of chromosome 10 syndromeGroupView → Partial deletion of chromosome 11 syndromeGroupView → Partial deletion of chromosome 12 syndromeGroupView → Partial deletion of chromosome 16 syndromeGroupView → Partial deletion of chromosome 17 syndromeGroupView → Partial deletion of chromosome 18 syndromeGroupView → Partial deletion of chromosome 19 syndromeGroupView → Partial deletion of chromosome 2 syndromeGroupView → Partial deletion of chromosome 20 syndromeGroupView → Partial deletion of chromosome 3 syndromeGroupView → Partial deletion of chromosome 4 syndromeGroupView → Partial deletion of chromosome 5 syndromeGroupView → Partial deletion of chromosome 6 syndromeGroupView → Partial deletion of chromosome 7 syndromeGroupView → Partial deletion of chromosome 8 syndromeGroupView → Partial deletion of chromosome 9 syndromeGroupView → Partial deletion of chromosome X syndromeGroupView → Partial deletion of the long arm of chromosome 1 syndromeGroupView → Partial deletion of the long arm of chromosome 10 syndromeGroupView → Partial deletion of the long arm of chromosome 11 syndromeGroupView → Partial deletion of the long arm of chromosome 12 syndromeGroupView → Partial deletion of the long arm of chromosome 13 syndromeGroupView → Partial deletion of the long arm of chromosome 14 syndromeGroupView → Partial deletion of the long arm of chromosome 15 syndromeGroupView → Partial deletion of the long arm of chromosome 16 syndromeGroupView → Partial deletion of the long arm of chromosome 17 syndromeGroupView → Partial deletion of the long arm of chromosome 18 syndromeGroupView → Partial deletion of the long arm of chromosome 19 syndromeGroupView → Partial deletion of the long arm of chromosome 2 syndromeGroupView → Partial deletion of the long arm of chromosome 20 syndromeGroupView → Partial deletion of the long arm of chromosome 21 syndromeGroupView → Partial deletion of the long arm of chromosome 22 syndromeGroupView → Partial deletion of the long arm of chromosome 3 syndromeGroupView → Partial deletion of the long arm of chromosome 4 syndromeGroupView → Partial deletion of the long arm of chromosome 5 syndromeGroupView → Partial deletion of the long arm of chromosome 6 syndromeGroupView → Partial deletion of the long arm of chromosome 7 syndromeGroupView → Partial deletion of the long arm of chromosome 8 syndromeGroupView → Partial deletion of the long arm of chromosome 9 syndromeGroupView → Partial deletion of the long arm of chromosome X syndromeGroupView → Partial deletion of the short arm of chromosome 1 syndromeGroupView → Partial deletion of the short arm of chromosome 10 syndromeGroupView → Partial deletion of the short arm of chromosome 11 syndromeGroupView → Partial deletion of the short arm of chromosome 12 syndromeGroupView → Partial deletion of the short arm of chromosome 16 syndromeGroupView → Partial deletion of the short arm of chromosome 17 syndromeGroupView → Partial deletion of the short arm of chromosome 18 syndromeGroupView → Partial deletion of the short arm of chromosome 19 syndromeGroupView → Partial deletion of the short arm of chromosome 2 syndromeGroupView → Partial deletion of the short arm of chromosome 20 syndromeGroupView → Partial deletion of the short arm of chromosome 3 syndromeGroupView → Partial deletion of the short arm of chromosome 4 syndromeGroupView → Partial deletion of the short arm of chromosome 5 syndromeGroupView → Partial deletion of the short arm of chromosome 6 syndromeGroupView → Partial deletion of the short arm of chromosome 7 syndromeGroupView → Partial deletion of the short arm of chromosome 8 syndromeGroupView → Partial deletion of the short arm of chromosome 9 syndromeGroupView → Partial deletion of the short arm of the chromosome X syndromeGroupView → Partial duplication of chromosome 1 syndromeGroupView → Partial duplication of chromosome 10 syndromeGroupView → Partial duplication of chromosome 11 syndromeGroupView → Partial duplication of chromosome 16 syndromeGroupView → Partial duplication of chromosome 17 syndromeGroupView → Partial duplication of chromosome 19 syndromeGroupView → Partial duplication of chromosome 2 syndromeGroupView → Partial duplication of chromosome 20 syndromeGroupView → Partial duplication of chromosome 3 syndromeGroupView → Partial duplication of chromosome 4 syndromeGroupView → Partial duplication of chromosome 6 syndromeGroupView → Partial duplication of chromosome 7 syndromeGroupView → Partial duplication of chromosome 8 syndromeGroupView → Partial duplication of chromosome X syndromeGroupView → Partial duplication of the long arm of chromosome 1 syndromeGroupView → Partial duplication of the long arm of chromosome 10 syndromeGroupView → Partial duplication of the long arm of chromosome 11 syndromeGroupView → Partial duplication of the long arm of chromosome 13 syndromeGroupView → Partial duplication of the long arm of chromosome 14 syndromeGroupView → Partial duplication of the long arm of chromosome 15 syndromeGroupView → Partial duplication of the long arm of chromosome 16 syndromeGroupView → Partial duplication of the long arm of chromosome 17 syndromeGroupView → Partial duplication of the long arm of chromosome 18 syndromeGroupView → Partial duplication of the long arm of chromosome 19 syndromeGroupView → Partial duplication of the long arm of chromosome 2 syndromeGroupView → Partial duplication of the long arm of chromosome 20 syndromeGroupView → Partial duplication of the long arm of chromosome 22 syndromeGroupView → Partial duplication of the long arm of chromosome 3 syndromeGroupView → Partial duplication of the long arm of chromosome 4 syndromeGroupView → Partial duplication of the long arm of chromosome 5 syndromeGroupView → Partial duplication of the long arm of chromosome 6 syndromeGroupView → Partial duplication of the long arm of chromosome 7 syndromeGroupView → Partial duplication of the long arm of chromosome 8 syndromeGroupView → Partial duplication of the long arm of chromosome 9 syndromeGroupView → Partial duplication of the long arm of chromosome X syndromeGroupView → Partial duplication of the short arm of chromosome 1 syndromeGroupView → Partial duplication of the short arm of chromosome 10 syndromeGroupView → Partial duplication of the short arm of chromosome 11 syndromeGroupView → Partial duplication of the short arm of chromosome 16 syndromeGroupView → Partial duplication of the short arm of chromosome 17 syndromeGroupView → Partial duplication of the short arm of chromosome 19 syndromeGroupView → Partial duplication of the short arm of chromosome 2 syndromeGroupView → Partial duplication of the short arm of chromosome 3 syndromeGroupView → Partial duplication of the short arm of chromosome 4 syndromeGroupView → Partial duplication of the short arm of chromosome 6 syndromeGroupView → Partial duplication of the short arm of chromosome 7 syndromeGroupView → Partial duplication of the short arm of chromosome 8 syndromeGroupView → Partial duplication of the short arm of chromosome X syndromeGroupView → Partial duplication/triplication of chromosome 18 syndromeGroupView → Partial duplication/triplication of chromosome 5 syndromeGroupView → Partial duplication/triplication of chromosome 9 syndromeGroupView → Partial duplication/triplication of the short arm of chromosome 12 syndromeGroupView → Partial duplication/triplication of the short arm of chromosome 18 syndromeGroupView → Partial duplication/triplication of the short arm of chromosome 5 syndromeGroupView → Partial duplication/triplication of the short arm of chromosome 9 syndromeGroupView → Partial hydatidiform mole1 recruitingView → Partial pancreatic agenesisView → Partial septate uterusView → Partial trisomy 12q syndromeView → Partially involuting congenital hemangiomaView → Partington syndromeView → Partington-Anderson syndromeView → PASH syndromeView → PASS syndrome2 recruitingView → Patella aplasia-coxa vara-tarsal synostosis syndromeView → Patellar dysostosisConnective TissueGroupView → Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndromeCardiovascularView → Patent urachusView → Paternal 20q13.2q13.3 microdeletion syndromeView → Paternal uniparental disomy of chromosome 1 syndromeView → Paternal uniparental disomy of chromosome 13 syndromeView → Paternal uniparental disomy of chromosome 20 syndromeView → Paternal uniparental disomy of chromosome 21 syndromeView → Paternal uniparental disomy of chromosome 5 syndromeView → Paternal uniparental disomy of chromosome 6 syndromeView → Paternal uniparental disomy of chromosome 7 syndromeView → Paternal uniparental disomy of chromosome X syndromeView → Paternal uniparental disomy syndromeGroupView → Pattern dystrophyGroupView → Patterson-Stevenson-Fontaine syndromeView → Pauci-immune glomerulonephritisRenalView → Pauci-immune glomerulonephritis with ANCARenalView → Pauci-immune glomerulonephritis without ANCARenalView → PBX1-related congenital anomalies of kidney-urinary tract syndromeRenalView → PCDH19 clustering epilepsyNeurologicalView → PCNA-related progressive neurodegenerative photosensitivity syndromeNeurologicalView → PDE4D haploinsufficiency syndromeView → Pearson Syndrome3 recruitingMitochondrialView → Pectus excavatum-macrocephaly-dysplastic nails syndromeView → Pediatric acute respiratory distress syndrome10 recruitingView → Pediatric arterial ischemic stroke1 recruitingView → Pediatric collagenous gastritisView → Pediatric hepatocellular carcinoma7 recruitingOncologyView → Pediatric multiple sclerosis9 recruitingView → Pediatric systemic lupus erythematosus10 recruitingView → Pediatric-onset glaucomaGroupView → Pediatric-onset glaucoma of genetic originGroupView → Pediatric-onset Graves diseaseView → Peeling skin syndrome type AView → Peeling skin syndrome type BView → Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndromeView → PEHO syndromeView → PEHO-like syndromeView → Pelizaeus-Merzbacher Disease7 recruitingNeurologicalView → Pelizaeus-Merzbacher disease in female carriersView → Pelizaeus-Merzbacher disease, classic formView → Pelizaeus-Merzbacher disease, connatal formView → Pelizaeus-Merzbacher disease, transitional formView → Pelizaeus-Merzbacher-like disease3 recruitingView → Pelizaeus-Merzbacher-like disease due to AIMP1 mutationView → Pelizaeus-Merzbacher-like disease due to GJC2 mutationView → Pelizaeus-Merzbacher-like disease due to HSPD1 mutationView → PellagraView → Pellagra-like skin rash-neurological manifestations syndromeView → Pellucid marginal degeneration3 recruitingView → Pelvic arteriovenous malformationView → Pelvic dysplasia-arthrogryposis of lower limbs syndromeView → Pelvis-shoulder dysplasiaView → Pelviscapular dysplasiaView → Pemphigoid gestationisView → Pemphigus erythematosus1 recruitingDermatologicalView → Pemphigus foliaceus1 recruitingDermatologicalView → Pemphigus vegetansDermatologicalView → Pemphigus Vulgaris6 recruitingDermatologicalView → Pendred syndromeView → Penile agenesis2 recruitingView → Penoscrotal transpositionView → PENS syndrome1 recruitingView → Pentalogy of CantrellView → Pentasomy X syndrome2 recruitingView → PentosuriaView → PERCC1-related congenital intractable malabsorptive diarrheaView → Pericardial and diaphragmatic defectView → Perifoveal exudative vascular anomalous complexView → Perihilar cholangiocarcinoma18 recruitingOncologyView → Perinatal lethal hypophosphatasia1 recruitingView → Periodic fever syndromeGroupView → Periodic fever syndrome of childhoodGroupView → Periodic fever-immunodeficiency-thrombocytopenia syndromeBloodView → Periodic fever-infantile enterocolitis-autoinflammatory syndromeImmuneView → Periodic Paralysis1 recruitingNeuromuscularView → Periodic paralysis with later-onset distal motor neuropathyView → Periodic paralysis with transient compartment-like syndromeView → Periodontal Ehlers-Danlos syndromeConnective TissueView → Perioral myoclonia with absencesView → Peripapillary staphylomaView → Peripartum cardiomyopathy2 recruitingNeuromuscularView → Peripheral arteriovenous malformation3 recruitingView → Peripheral congenital arteriovenous fistula3 recruitingView → Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseNeurologicalView → Peripheral motor neuropathy-dysautonomia syndrome4 recruitingView → Peripheral neuropathy associated with monoclonal gammopathyGroupView → Peripheral primitive neuroectodermal tumor113 recruitingView → Peripheral pulmonary stenosis1 recruitingRespiratoryView → Peritoneal inclusion cystView → Peritoneal mesothelioma in situOncologyView → Perivascular epithelioid cell neoplasm15 recruitingView → Periventricular nodular heterotopiaNeurologicalView → Perlman syndromeView → Permanent congenital hypothyroidismEndocrineGroupView → Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeNeurologicalView → Peroxisomal acyl-CoA oxidase deficiency1 recruitingView → Peroxisomal beta-oxidation disorderGroupView → Peroxisomal diseaseGroupView → Peroxisomal disease with epilepsyNeurologicalGroupView → Perrault syndromeView → Perrault syndrome type 1View → Perrault syndrome type 2View → Perry syndromeView → Persistent eustachian valveView → Persistent fifth aortic archView → Persistent hyperplastic primary vitreous1 recruitingOphthalmologicalView → Persistent idiopathic facial pain1 recruitingView → Persistent left superior vena cava connecting through coronary sinus to left-sided atriumView → Persistent left superior vena cava connecting to the roof of left-sided atriumView → Persistent Müllerian duct syndromeView → Persistent placoid maculopathyView → Persistent polyclonal B-cell lymphocytosisView → Peters anomaly2 recruitingView → Peters plus syndrome1 recruitingView → Peutz-Jeghers syndrome5 recruitingView → PFAPA Syndrome2 recruitingImmuneView → Pfeiffer syndrome5 recruitingView → Pfeiffer syndrome type 1View → Pfeiffer syndrome type 2View → Pfeiffer syndrome type 3View → Pfeiffer-Palm-Teller syndromeView → PGM1-CDG1 recruitingView → PGM3-CDGView → PHACE syndromeView → Phacoanaphylactic uveitisView → Phakomatosis cesioflammeaView → Phakomatosis cesiomarmorataView → Phakomatosis pigmentokeratoticaView → Phakomatosis pigmentovascularisView → Phakomatosis spiloroseaView → Phalangeal microgeodic syndromeView → Pharyngeal-cervical-brachial variant of Guillain-Barré syndromeView → PHAVER syndromeView → Phelan-McDermid Syndrome3 recruitingNeurologicalView → Phelan-McDermid syndrome due to 22q13.3 deletionView → Phelan-McDermid syndrome due to SHANK3 mutationView → Phenobarbital embryopathyView → Phenylketonuria31 recruitingMetabolicView → Pheochromocytoma and Paraganglioma35 recruitingEndocrineView → PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndromeView → Phocomelia, Schinzel typeView → Phosphoenolpyruvate carboxykinase deficiencyView → Phosphoribosylformylglycinamidine synthase deficiencyView → Phosphoribosylpyrophosphate synthetase superactivity1 recruitingView → Phosphoserine aminotransferase deficiency, infantile/juvenile formView → Photosensitive occipital lobe epilepsyNeurologicalView → Phyllodes tumor of the breast1 recruitingView → Phyllodes tumor of the prostateView → PIBIDS syndromeView → Piebald trait-neurologic defects syndromeView → Piebaldism3 recruitingView → Piepkorn dysplasiaView → Pierpont syndromeView → Pierre Robin syndrome associated with a chromosomal anomalyGroupView → Pierre Robin syndrome associated with bone diseaseGroupView → Pierre Robin syndrome associated with branchial archs anomaliesGroupView → Pierre Robin syndrome associated with collagen diseaseGroupView → Pierre Robin syndrome-faciodigital anomaly syndromeView → Pierson syndromeView → PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalisView → Pigmentation anomaly of the skinGroupView → Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndromeDermatologicalView → Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome1 recruitingView → Pigmented paravenous retinochoroidal atrophyView → Pili bifurcatiView → Pili geminiView → Pili tortiView → Pili torti-developmental delay-neurological abnormalities syndromeView → Pili torti-onychodysplasia syndromeView → Pilocytic astrocytoma4 recruitingView → Pilocytic astrocytoma with histological features of anaplasiaView → Pilodental dysplasia-refractive errors syndromeView → Pilomatrix carcinomaOncologyView → PilomatrixomaView → Pilomyxoid astrocytoma2 recruitingView → Pineal parenchymal tumor of intermediate differentiationView → Pineoblastoma8 recruitingOncologyView → Pineocytoma10 recruitingView → Pinnae and external auditory canal anomalyGroupView → Pinnae fistula or cystView → Pinsky-Di George-Harley syndromeView → Pipecolic acidemiaMetabolicView → Pitt-Hopkins Syndrome3 recruitingNeurologicalView → Pitt-Rogers-Danks syndrome1 recruitingView → PituicytomaView → Pituitary apoplexyEndocrineView → Pituitary carcinoma3 recruitingEndocrineView → Pituitary deficiencyEndocrineGroupView → Pituitary deficiency due to empty sella turcica syndromeEndocrineView → Pituitary deficiency due to Rathke cleft cystsEndocrineView → Pituitary dermoid and epidermoid cystsEndocrineView → Pituitary gigantism3 recruitingEndocrineView → Pituitary hormone deficiency of meningeal originEndocrineGroupView → Pituitary hormone deficiency of tumoral originEndocrineGroupView → Pituitary hormone deficiency of vascular originEndocrineGroupView → Pituitary hormone deficiency secondary to a granulomatous diseaseEndocrineGroupView → Pituitary hormone deficiency secondary to storage diseaseEndocrineGroupView → Pituitary resistance to thyroid hormone1 recruitingEndocrineView → Pituitary stalk interruption syndrome1 recruitingEndocrineView → Pituitary tumorEndocrineGroupView → Pityriasis rubra pilarisView → PLAA-associated neurodevelopmental disorderView → Placenta accreta spectrum disorder7 recruitingView → Placental insufficiency4 recruitingView → Placental site trophoblastic tumor1 recruitingView → Plague3 recruitingView → Plaque-form urticaria pigmentosaView → Plasma cell leukemia136 recruitingBloodView → Plasma cell tumorGroupView → Plasmablastic lymphoma10 recruitingBloodView → Plasmacytoma16 recruitingView → Platyspondylic dysplasia, Torrance typeView → PLCG2-associated antibody deficiency and immune dysregulationView → PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvementDermatologicalView → Plectin-related limb-girdle muscular dystrophy R172 recruitingNeuromuscularView → Pleomorphic liposarcoma12 recruitingOncologyView → Pleomorphic rhabdomyosarcoma4 recruitingOncologyView → Pleomorphic xanthoastrocytoma3 recruitingView → Pleural mesothelioma in situRespiratoryView → Pleuro-pericardial cystView → Pleuropulmonary Blastoma4 recruitingRespiratoryView → Pleuropulmonary blastoma type 12 recruitingRespiratoryView → Pleuropulmonary blastoma type 21 recruitingRespiratoryView → Pleuropulmonary blastoma type 31 recruitingRespiratoryView → PLG-related hereditary angioedema with normal C1InhView → PLIN1-related familial partial lipodystrophyView → PLIN4-related distal myopathyNeuromuscularView → Plummer-Vinson syndromeView → PMM2-CDG1 recruitingView → PMP2-related Charcot-Marie-Tooth disease type 1View → PMP22-RAI1 contiguous gene duplication syndromeView → Pneumococcal meningitis3 recruitingView → Pneumocystosis13 recruitingView → POEMS syndrome7 recruitingView → POGLUT1-related limb-girdle muscular dystrophy R21NeuromuscularView → Poikiloderma with neutropeniaBloodView → Poirier-Bienvenu neurodevelopmental syndromeView → Poland syndrome1 recruitingView → Poliomyelitis9 recruitingView → Pollitt syndromeView → Polyarteritis nodosa6 recruitingView → Polyclonal hyperviscosity syndromeView → Polycythemia vera49 recruitingBloodView → Polydactyly of a biphalangeal thumb and/or halluxView → Polydactyly of a triphalangeal thumbView → Polydactyly of an index fingerView → Polydactyly-myopia syndromeView → PolyembryomaView → Polyendocrine-polyneuropathy syndromeView → PolyendocrinopathyGroupView → Polyglucosan body myopathy type 11 recruitingNeuromuscularView → Polyglucosan body myopathy type 21 recruitingNeuromuscularView → Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeNeurologicalView → Polymalformative genetic syndrome with increased risk of developing cancerGroupView → Polymerase proofreading-related polyposisView → Polymicrogyria due to TUBB2B mutationNeurologicalView → Polymicrogyria with optic nerve hypoplasiaNeurologicalView → Polymyositis45 recruitingView → Polyneuropathy associated with IgM monoclonal gammopathyView → Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAGView → Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome1 recruitingNeurologicalView → Polyneuropathy-intellectual disability-acromicria-premature menopause syndromeView → Polyostotic fibrous dysplasia4 recruitingView → Polyploidy syndromeGroupView → PolyrrhiniaView → Polysomy of X chromosome syndromeGroupView → PolysyndactylyView → Polysyndactyly-cardiac malformation syndromeView → POMGNT1-related limb-girdle muscular dystrophy R152 recruitingNeuromuscularView → POMGNT2-related limb-girdle muscular dystrophy R24NeuromuscularView → Pompe DiseaseMetabolicView → POMT1-related limb-girdle muscular dystrophy R112 recruitingNeuromuscularView → POMT2-related limb-girdle muscular dystrophy R142 recruitingNeuromuscularView → Pontiac feverView → Pontine autosomal dominant microangiopathy with leukoencephalopathyNeurologicalView → Pontine tegmental cap dysplasiaView → Pontocerebellar hypoplasia type 11 recruitingNeurologicalView → Pontocerebellar hypoplasia type 101 recruitingNeurologicalView → Pontocerebellar hypoplasia type 111 recruitingNeurologicalView → Pontocerebellar hypoplasia type 12NeurologicalView → Pontocerebellar hypoplasia type 13NeurologicalView → Pontocerebellar hypoplasia type 14NeurologicalView → Pontocerebellar hypoplasia type 21 recruitingNeurologicalView → Pontocerebellar hypoplasia type 3NeurologicalView → Pontocerebellar hypoplasia type 4NeurologicalView → Pontocerebellar hypoplasia type 51 recruitingNeurologicalView → Pontocerebellar hypoplasia type 6NeurologicalView → Pontocerebellar hypoplasia type 7NeurologicalView → Pontocerebellar hypoplasia type 8NeurologicalView → Pontocerebellar hypoplasia type 9NeurologicalView → Poorly differentiated thymic neuroendocrine carcinomaEndocrineView → PorencephalyNeurologicalView → Porencephaly-cerebellar hypoplasia-internal malformations syndromeNeurologicalView → Porencephaly-microcephaly-bilateral congenital cataract syndromeView → PorokeratosisDermatologicalGroupView → Porokeratosis of MibelliDermatologicalView → Porokeratosis plantaris palmaris et disseminataDermatologicalView → Porokeratotic eccrine ostial and dermal duct nevusView → Porphyria cutanea tarda1 recruitingBloodView → Porphyria due to ALA dehydratase deficiencyBloodView → Port-wine nevi-mega cisterna magna-hydrocephalus syndromeView → Portosinusoidal vascular diseaseView → Post 5-alpha-reductase inhibitors treatment syndromeView → Post-selective serotonin reuptake inhibitor sexual dysfunctionView → Post-transplant lymphoproliferative disease73 recruitingView → Post-traumatic pituitary deficiency1 recruitingEndocrineView → Postaxial acrofacial dysostosis1 recruitingConnective TissueView → Postaxial polydactyly type AView → Postaxial polydactyly type BView → Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeEndocrineView → Postaxial polydactyly-dental and vertebral anomalies syndromeView → Postaxial tetramelic oligodactylyView → Postencephalitic parkinsonismNeurologicalView → Posterior amorphous corneal dystrophyOphthalmologicalView → Posterior column ataxia-retinitis pigmentosa syndrome1 recruitingNeurologicalView → Posterior corneal dystrophyOphthalmologicalGroupView → Posterior cortical atrophy6 recruitingView → Posterior extramedullary conus spinal cord lipomaView → Posterior fossa malformationGroupView → Posterior fusion of lumbosacral vertebrae-blepharoptosis syndromeView → Posterior polymorphous corneal dystrophy4 recruitingOphthalmologicalView → Posterior urethral valve5 recruitingView → Posterior uveitisGroupView → Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndromeNeurologicalView → Postinfectious autoimmune disease with choreaImmuneGroupView → Postinfectious cerebellitisView → Postinfectious vasculitisImmuneView → Postlingual non-syndromic genetic deafnessView → Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeView → Postorgasmic illness syndromeView → Postpartum psychosis1 recruitingView → Postpoliomyelitis syndrome3 recruitingView → Postsynaptic congenital myasthenic syndromeView → Postural orthostatic tachycardia syndrome due to NET deficiencyView → Potocki-Shaffer syndrome1 recruitingView → PPARG-associated congenital generalized lipodystrophyView → PPARG-related familial partial lipodystrophyView → PPomaView → Prader-Willi Syndrome16 recruitingNeurologicalView → Prader-Willi syndrome due to imprinting mutationView → Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15View → Prader-Willi syndrome due to paternal 15q11q13 deletionView → Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1View → Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2View → Prader-Willi syndrome due to translocationView → PRDM8-related progressive myoclonus epilepsyNeurologicalView → Pre-Descemet corneal dystrophyOphthalmologicalView → Preaxial digit brachydactyly-webbed fingersView → Preaxial polydactyly-colobomata-intellectual disability syndromeView → Precursor B-cell acute lymphoblastic leukemia122 recruitingBloodView → Precursor T-cell acute lymphoblastic leukemia151 recruitingBloodView → Predisposition to invasive fungal disease due to CARD9 deficiencyView → Predisposition to severe viral infection due to IRF7 deficiencyView → Preeclampsia134 recruitingView → Prelingual non-syndromic genetic deafnessView → Premature agingGroupView → Premature chromosome condensation with microcephaly and intellectual disabilityView → Premature closure of the arterial duct1 recruitingView → Prenatal benign hypophosphatasia1 recruitingView → Prenatal-onset spinal muscular atrophy with congenital bone fracturesNeuromuscularView → Prepubertal anorexia nervosaView → Pressure-induced localized lipoatrophyView → Presumed ocular histoplasmosis syndrome1 recruitingView → Presynaptic congenital myasthenic syndromesView → Primary acquired pure red cell aplasiaView → Primary adrenal insufficiencyRenalGroupView → Primary adult heart tumor2 recruitingView → Primary anetodermaView → Primary angiitis of the central nervous system3 recruitingView → Primary autoimmune enteropathy12 recruitingImmuneView → Primary basilar invaginationView → Primary benign peritoneal tumorGroupView → Primary biliary cholangitis55 recruitingView → Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndromeImmuneView → Primary bone and joint tuberculosisView → Primary bone dysplasiaGroupView → Primary bone dysplasia with decreased bone densityGroupView → Primary bone dysplasia with defective bone mineralizationGroupView → Primary bone dysplasia with disorganized development of skeletal componentsGroupView → Primary bone dysplasia with increased bone densityGroupView → Primary bone dysplasia with micromeliaGroupView → Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligamentsGroupView → Primary bone lymphoma21 recruitingBloodView → Primary CD59 deficiencyView → Primary central nervous system lymphoma74 recruitingBloodView → Primary central precocious puberty in maleView → Primary choroidal lymphomaBloodView → Primary Ciliary Dyskinesia17 recruitingRespiratoryView → Primary ciliary dyskinesia-retinitis pigmentosa syndromeRespiratoryView → Primary ciliary dyskinesia, Kartagener type4 recruitingRespiratoryView → Primary condylar hyperplasiaView → Primary congenital hypothyroidism without thyroid developmental anomalyEndocrineGroupView → Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma2 recruitingBloodView → Primary cutaneous anaplastic large cell lymphoma4 recruitingBloodView → Primary cutaneous B-cell lymphomaBloodGroupView → Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphomaBloodView → Primary cutaneous diffuse large B-cell lymphoma, leg type1 recruitingBloodView → Primary cutaneous follicle center lymphoma6 recruitingBloodView → Primary cutaneous gamma/delta-positive T-cell lymphoma1 recruitingBloodView → Primary cutaneous lymphomaBloodGroupView → Primary cutaneous marginal zone B-cell lymphoma4 recruitingBloodView → Primary cutaneous peripheral T-cell lymphoma not otherwise specified3 recruitingBloodView → Primary cutaneous plasmacytosisView → Primary cutaneous T-cell lymphomaBloodGroupView → Primary cutaneous tuberculosisView → Primary desmosis coliView → Primary dystonia, DYT13 typeView → Primary dystonia, DYT17 typeView → Primary dystonia, DYT2 typeView → Primary dystonia, DYT21 typeView → Primary dystonia, DYT27 typeView → Primary dystonia, DYT4 typeView → Primary dystonia, DYT6 typeView → Primary effusion lymphoma7 recruitingBloodView → Primary erythromelalgiaView → Primary essential cutis verticis gyrataView → Primary failure of tooth eruption1 recruitingView → Primary familial polycythemia1 recruitingBloodView → Primary Fanconi renotubular syndrome1 recruitingBloodView → Primary genito-urinary tuberculosisView → Primary germ cell tumor of central nervous systemGroupView → Primary hemophagocytic lymphohistiocytosis with hypopigmentationImmuneGroupView → Primary hemophagocytic lymphohistiocytosis without hypopigmentationImmuneGroupView → Primary hepatic neuroendocrine carcinoma1 recruitingEndocrineView → Primary hyperaldosteronism-seizures-neurological abnormalities syndromeNeurologicalView → Primary hypereosinophilic syndrome1 recruitingView → Primary hypergonadotropic hypogonadism-partial alopecia syndromeView → Primary Hyperoxaluria12 recruitingRenalView → Primary hyperoxaluria type 112 recruitingRenalView → Primary hyperoxaluria type 26 recruitingRenalView → Primary hyperoxaluria type 33 recruitingRenalView → Primary hypomagnesemia with hypercalciuria and nephrocalcinosis1 recruitingRenalView → Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvementRenalView → Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvementRenalView → Primary hypomagnesemia with secondary hypocalcemia1 recruitingView → Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndromeNeurologicalView → Primary hypomagnesemia-refractory seizures-intellectual disability syndromeNeurologicalView → Primary ImmunodeficiencyImmuneView → Primary immunodeficiency due to a defect in adaptive immunityImmuneGroupView → Primary immunodeficiency due to a defect in innate immunityImmuneGroupView → Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiencyImmuneView → Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiencyImmuneView → Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infectionImmuneView → Primary immunodeficiency with predisposition to severe viral infectionImmuneGroupView → Primary inferior vena cava aneurysmView → Primary interstitial lung disease in childhood and adulthoodGroupView → Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorderRespiratoryGroupView → Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorderRespiratoryGroupView → Primary interstitial lung disease specific to adulthoodGroupView → Primary interstitial lung disease specific to childhoodGroupView → Primary interstitial lung disease specific to childhood due to alveolar structure disorderRespiratoryGroupView → Primary interstitial lung disease specific to childhood due to alveolar vascular disorderRespiratoryGroupView → Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomaliesRespiratoryGroupView → Primary intestinal lymphangiectasiaView → Primary intrahepatic lithiasisView → Primary laryngeal lymphangiomaRespiratoryView → Primary lateral sclerosis178 recruitingView → Primary lipodystrophyGroupView → Primary localized amyloidosis1 recruitingView → Primary lymphedemaGroupView → Primary lymphedema with systemic or visceral involvementGroupView → Primary lymphedema without systemic or visceral involvementGroupView → Primary lymphoma of the conjunctivaBloodView → Primary malignant peritoneal tumorGroupView → Primary mediastinal large B-cell lymphoma45 recruitingBloodView → Primary megaureter, adult-onset formView → Primary melanocytic tumor of central nervous systemGroupView → Primary melanoma of the central nervous system3 recruitingView → Primary membranoproliferative glomerulonephritis6 recruitingRenalView → Primary membranous glomerulonephritis20 recruitingRenalView → Primary microcephaly-epilepsy-permanent neonatal diabetes syndromeNeurologicalView → Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeView → Primary myelofibrosis97 recruitingBloodView → Primary myoclonusGroupView → Primary non-essential cutis verticis gyrataView → Primary non-gestational choriocarcinoma of ovaryOncologyView → Primary oculocerebral lymphomaBloodView → Primary organ-specific lymphomaBloodGroupView → Primary orthostatic disorderGroupView → Primary orthostatic tremor1 recruitingView → Primary osteolysisGroupView → Primary pediatric heart tumorView → Primary pericardial mesotheliomaOncologyView → Primary peritoneal carcinoma82 recruitingOncologyView → Primary peritoneal tumorGroupView → Primary plasmacytoma of the boneView → Primary polyarteritis nodosa1 recruitingView → Primary progressive apraxia of speech85 recruitingView → Primary progressive freezing gaitView → Primary pulmonary hypoplasia1 recruitingRespiratoryView → Primary pulmonary lymphoma7 recruitingBloodView → Primary pulmonary tuberculosisRespiratoryView → Primary pulmonary vein stenosisRespiratoryView → Primary qualitative or quantitative defects of alpha-dystroglycanGroupView → Primary sclerosing cholangitis32 recruitingView → Primary Sjogren Syndrome11 recruitingImmuneView → Primary superior vena cava aneurysmView → Primary syringomyeliaView → Primary systemic amyloidosis55 recruitingView → Primary tethered cord syndromeView → Primary triglyceride deposit cardiomyovasculopathy1 recruitingView → Primary tuberculosis of the digestive systemView → Primary tuberculous lymphadenitisView → Primary unilateral adrenal hyperplasiaRenalView → Primary vitreoretinal large B-cell lymphomaBloodView → Primitive neuroectodermal tumor of the cervix uteriView → Primitive neuroectodermal tumor of the corpus uteriView → Primordial short stature-microdontia-opalescent and rootless teeth syndromeView → PRKAR1B-related neurodegenerative dementia with intermediate filamentsNeurologicalView → Proboscis lateralisView → Progeria-short stature-pigmented nevi syndrome1 recruitingView → Progeroid and marfanoid aspect-lipodystrophy syndromeConnective TissueView → Progeroid features-hepatocellular carcinoma predisposition syndromeOncologyView → Progeroid syndromeGroupView → Progeroid syndrome, Petty typeView → Progressive autosomal recessive ataxia-deafness syndrome1 recruitingNeurologicalView → Progressive bifocal chorioretinal atrophyOphthalmologicalView → Progressive bulbar paralysis of childhoodView → Progressive cavitating leukoencephalopathyNeurologicalView → Progressive cerebello-cerebral atrophyView → Progressive cone dystrophy14 recruitingView → Progressive deafness with stapes fixationView → Progressive dementia with neuroserpin inclusion bodiesView → Progressive encephalomyelitis with rigidity and myoclonusView → Progressive encephalopathy with leukodystrophy due to DECR deficiencyNeurologicalView → Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndromeNeurologicalView → Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeView → Progressive external ophthalmoplegiaOphthalmologicalGroupView → Progressive external ophthalmoplegia-myopathy-emaciation syndromeNeuromuscularView → Progressive familial intrahepatic cholestasis12 recruitingView → Progressive familial intrahepatic cholestasis type 11 recruitingView → Progressive familial intrahepatic cholestasis type 21 recruitingView → Progressive familial intrahepatic cholestasis type 31 recruitingView → Progressive familial intrahepatic cholestasis type 41 recruitingView → Progressive familial intrahepatic cholestasis type 51 recruitingView → Progressive hemifacial atrophyView → Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSNView → Progressive microcephaly-seizures-cortical blindness-developmental delay syndromeNeurologicalView → Progressive multifocal leukoencephalopathy7 recruitingNeurologicalView → Progressive muscular atrophy76 recruitingView → Progressive muscular dystrophyNeuromuscularGroupView → Progressive myoclonic epilepsy type 3NeurologicalView → Progressive myoclonic epilepsy type 5NeurologicalView → Progressive myoclonic epilepsy type 6NeurologicalView → Progressive myoclonic epilepsy type 7NeurologicalView → Progressive myoclonic epilepsy type 8NeurologicalView → Progressive myoclonic epilepsy type 9NeurologicalView → Progressive myoclonic epilepsy with dystoniaNeurologicalView → Progressive myoclonic epilepsy with neuroserpin inclusion bodiesNeurologicalView → Progressive nodular histiocytosisImmuneView → Progressive non-fluent aphasia8 recruitingView → Progressive non-infectious anterior vertebral fusionView → Progressive osseous heteroplasiaView → Progressive polyneuropathy with bilateral striatal necrosisView → Progressive pseudorheumatoid dysplasiaView → Progressive retinal dystrophy due to retinol transport defectOphthalmologicalView → Progressive scapulohumeroperoneal distal myopathyNeuromuscularView → Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome1 recruitingNeuromuscularView → Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeConnective TissueView → Progressive Supranuclear Palsy29 recruitingNeurologicalView → Progressive supranuclear palsy-corticobasal syndrome16 recruitingView → Progressive supranuclear palsy-predominant parkinsonism syndrome1 recruitingNeurologicalView → Progressive supranuclear palsy-progressive non-fluent aphasia syndrome2 recruitingView → Progressive supranuclear palsy-pure akinesia with gait freezing syndromeView → Progressive symmetric erythrokeratodermiaView → Prolactinoma5 recruitingView → Prolidase deficiencyView → Proliferating trichilemmal cystView → Prominent glabella-microcephaly-hypogenitalism syndromeView → Properdin deficiencyView → Propionic Acidemia8 recruitingMetabolicView → Propylthiouracil embryofetopathyView → Proteasome-associated autoinflammatory syndromeImmuneView → Protein S acquired deficiencyView → Proteoglycan-related bone disorderGroupView → Proteus syndrome1 recruitingView → Proteus-like syndromeView → Protoplasmic astrocytomaView → Protracted juvenile CLN3 diseaseView → Proximal 16p11.2 microdeletion syndromeView → Proximal 16p11.2 microduplication syndromeView → Proximal myopathy with extrapyramidal signsNeuromuscularView → Proximal myopathy with focal depletion of mitochondriaNeuromuscularView → Proximal myotonic myopathy7 recruitingNeuromuscularView → Proximal renal tubular acidosis1 recruitingRenalView → Proximal spinal muscular atrophy type 14 recruitingNeuromuscularView → Proximal spinal muscular atrophy type 2NeuromuscularView → Proximal spinal muscular atrophy type 3NeuromuscularView → Proximal spinal muscular atrophy type 4NeuromuscularView → Proximal symphalangismView → Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome1 recruitingNeurologicalView → Proximal Xq28 duplication syndromeView → PrP systemic amyloidosisView → Prune belly syndrome4 recruitingView → PRUNE1-related neurological syndromeView → Pruritic urticarial papules and plaques of pregnancyView → PsAPASH syndromeView → Pseudo-Meigs syndromeView → Pseudo-TORCH syndrome type 1View → Pseudo-TORCH syndrome type 2View → Pseudo-TORCH syndrome type 3View → Pseudo-von Willebrand diseaseView → Pseudo-Zellweger syndrome1 recruitingView → Pseudoachondroplasia1 recruitingConnective TissueView → Pseudoaminopterin syndromeView → Pseudodiastrophic dysplasiaConnective TissueView → Pseudohypoaldosteronism type 11 recruitingView → Pseudohypoaldosteronism type 24 recruitingView → Pseudohypoaldosteronism type 2AView → Pseudohypoaldosteronism type 2BView → Pseudohypoaldosteronism type 2CView → Pseudohypoaldosteronism type 2DView → Pseudohypoaldosteronism type 2EView → PseudohypoparathyroidismEndocrineGroupView → Pseudohypoparathyroidism type 1A1 recruitingEndocrineView → Pseudohypoparathyroidism type 1BEndocrineView → Pseudohypoparathyroidism type 1C1 recruitingEndocrineView → Pseudohypoparathyroidism type 2EndocrineView → Pseudoleprechaunism syndrome, Patterson typeView → Pseudomyogenic hemangioendotheliomaView → Pseudomyxoma peritonei12 recruitingView → PseudopapilledemaGroupView → Pseudopelade of BrocqView → Pseudoprogeria syndromeView → Pseudopseudohypoparathyroidism4 recruitingEndocrineView → Pseudotyphus of CaliforniaView → Pseudounicornuate uterusView → Pseudoxanthoma Elasticum6 recruitingConnective TissueView → Pseudoxanthoma elasticum-like papillary dermal elastolysisConnective TissueView → Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosaConnective TissueView → Pseudoxanthomatous diffuse cutaneous mastocytosisConnective TissueView → PsittacosisView → Psoriasis-related juvenile idiopathic arthritis9 recruitingView → Psychogenic movement disorders2 recruitingView → Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome1 recruitingRenalView → PTEN hamartoma tumor syndrome4 recruitingView → Pterin-4 alpha-carbinolamine dehydratase deficiencyView → Pterygium colli-intellectual disability-digital anomalies syndromeView → Ptosis-strabismus-ectopic pupils syndromeView → Ptosis-syndactyly-learning difficulties syndromeView → Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndromeView → Ptosis-vocal cord paralysis syndromeView → Pudendal nerve entrapment syndrome6 recruitingView → Pulmonary agenesis3 recruitingRespiratoryView → Pulmonary alveolar microlithiasisRespiratoryView → Pulmonary Alveolar Proteinosis4 recruitingRespiratoryView → Pulmonary Arterial HypertensionRespiratoryView → Pulmonary arterial hypertension associated with another diseaseRespiratoryGroupView → Pulmonary arteriovenous malformation7 recruitingRespiratoryView → Pulmonary artery coming from patent ductus arteriosusRespiratoryView → Pulmonary artery hypoplasia1 recruitingRespiratoryView → Pulmonary artery or pulmonary branch anomalyRespiratoryGroupView → Pulmonary atresia with ventricular septal defect4 recruitingRespiratoryView → Pulmonary atresia-intact ventricular septum syndromeRespiratoryView → Pulmonary blastoma4 recruitingRespiratoryView → Pulmonary capillary hemangiomatosisRespiratoryView → Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndromeRespiratoryView → Pulmonary interstitial glycogenosisRespiratoryView → Pulmonary Langerhans cell histiocytosis22 recruitingImmuneView → Pulmonary nodular lymphoid hyperplasiaRespiratoryView → Pulmonary non-tuberculous mycobacterial infection12 recruitingRespiratoryView → Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndromeRespiratoryView → Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndromeRespiratoryView → Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosisRespiratoryGroupView → Pulmonary venoocclusive disease1 recruitingRespiratoryView → Pulverulent cataractView → PUM1-associated developmental disability-ataxia-seizure syndromeNeurologicalView → PUM1-related cerebellar ataxiaNeurologicalView → Punctate acrokeratoderma freckle-like pigmentationDermatologicalView → Punctate inner choroidopathyView → Punctate palmoplantar keratodermaDermatologicalGroupView → Punctate palmoplantar keratoderma type 1DermatologicalView → Punctate palmoplantar keratoderma type 2DermatologicalView → PURA-related severe neonatal hypotonia-seizures-encephalopathy syndromeNeurologicalView → PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationNeurologicalView → Pure autonomic failure11 recruitingView → Pure hair and nail ectodermal dysplasiaDermatologicalView → Pure mitochondrial myopathyNeuromuscularView → Pure squamous carcinoma of the urothelial tractOncologyView → Purine nucleoside phosphorylase deficiency2 recruitingView → Pustular pyoderma gangrenosumView → Pustulosis palmaris et plantaris6 recruitingView → PycnodysostosisConnective TissueView → PYCR1-related De Barsy syndromeView → PYCR2-related microcephaly-progressive leukoencephalopathyNeurologicalView → PyknoachondrogenesisView → Pyle disease1 recruitingView → Pyoderma gangrenosum3 recruitingView → Pyogenic autoinflammatory syndromeImmuneGroupView → Pyogenic autoinflammatory syndrome of childhoodImmuneGroupView → PyomyositisView → Pyramidal molars-abnormal upper lip syndromeView → Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathyNeurologicalView → Pyridoxine-dependent-developmental and epileptic encephalopathyNeurologicalView → Pyruvate carboxylase deficiencyView → Pyruvate carboxylase deficiency, benign typeView → Pyruvate carboxylase deficiency, infantile typeView → Pyruvate carboxylase deficiency, severe neonatal typeView → Pyruvate dehydrogenase deficiency4 recruitingView → Pyruvate dehydrogenase E1-alpha deficiencyView → Pyruvate dehydrogenase E1-beta deficiencyView → Pyruvate dehydrogenase E2 deficiencyView → Pyruvate dehydrogenase E3 deficiencyView → Pyruvate dehydrogenase E3-binding protein deficiencyView → Pyruvate dehydrogenase phosphatase deficiencyView → Pyruvate Kinase Deficiency1 recruitingBloodView → Pyruvate metabolism disorderGroupView →