Disease Name Symbol Acronym
Pa Polymorphism of Alpha-2-Globulin PPL057
Pachydermodactyly, Familial PCH021
Pachygyria PCH002
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts PCH018
Pachygyria, Frontotemporal PCH004
Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures PCH022 PAMDDFS
Pachygyria-Intellectual Disability-Epilepsy Syndrome PCH017
Pachyonychia Congenita 1 PCH015 PC1
Pachyonychia Congenita 2 PCH012 PC2
Pachyonychia Congenita 3 PCH010 PC3
Pachyonychia Congenita 4 PCH011 PC4
Pachyonychia Congenita, Autosomal Recessive PCH020
Pacinian Tumor PCN001
Pacman Dysplasia PCM001
Pacs1 Neurodevelopmental Disorder PCS004
Pacs1 Syndrome PCS003 SHMS
Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia PFH001
Paganini-Miozzo Syndrome PGN002 MRXSPM
Paget Disease of Bone 2, Early-Onset PGT009 PDB2
Paget Disease of Bone 3 PGT007 PDB3
Paget Disease of Bone 4 PGT006 PDB4
Paget Disease of Bone 5, Juvenile-Onset PGT008 PDB5
Paget Disease of Bone 6 PGT011 PDB6
Paget Disease, Extramammary PGT003 EMPD
Paget's Disease of Bone PGT001 PDB
Pagod Syndrome PGD001
Pagon Stephan Syndrome PGN001
Pain Agnosia PNG002
Pain Sensitivity Quantitative Trait Locus 1 PNS018 PAINQTL1
Paine Syndrome PNS012 PAIN
Painful Legs and Moving Toes Syndrome PNF002 PLMT
Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome PNF001
Palant Cleft Palate Syndrome PLN009
Palatopharyngeal Incompetence PLT007 VPI
Palindromic Rheumatism PLN005
Palladium Allergic Contact Dermatitis PLL016
Pallidal Degeneration, Progressive, with Retinitis Pigmentosa PLL015
Pallister W Syndrome PLL004
Pallister-Hall Syndrome PLL001 PHS
Pallister-Hall-Like Syndrome PLL017 PHLS
Pallister-Killian Syndrome PLL008 PKS
Palmaris Longus Muscle, Absence of PLM161
Palmer Pagon Syndrome PLM045
Palmomental Reflex PLM162
Palmoplantar Carcinoma, Multiple Self-Healing PLM156 MSPC
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal PLM173 PKKSCC
Palmoplantar Keratoderma and Congenital Alopecia 1 PLM158 PPKCA1
Palmoplantar Keratoderma and Congenital Alopecia 2 PLM149 PPKCA2
Palmoplantar Keratoderma and Woolly Hair PLM137 PPKWH
Palmoplantar Keratoderma I, Striate, Focal, or Diffuse PLM160 PPKS1
Palmoplantar Keratoderma, Bothnian Type PLM135 PPKB
Palmoplantar Keratoderma, Epidermolytic PLM102 EPPK
Palmoplantar Keratoderma, Nagashima Type PLM104 PPKN
Palmoplantar Keratoderma, Nonepidermolytic PLM136 NEPPK
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 PLM174 FNEPPK1
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 PLM142 FNEPPK2
Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse PLM131 PPKNEFD
Palmoplantar Keratoderma, Norrbotten Recessive Type PLM154 PPKNR
Palmoplantar Keratoderma, Punctate Type Ia PLM159 PPKP1A
Palmoplantar Keratoderma, Punctate Type Ib PLM176 PPKP1B
Palmoplantar Keratoderma, Punctate Type Ii PLM163 PPKP2
Palmoplantar Keratoderma, Punctate Type Iii PLM152 PPKP3
Palmoplantar Keratosis PLM029
Panbronchiolitis, Diffuse PNB004 DPB
Pancreas Disease PNC034
Pancreas Lymphoma PNC007
Pancreas Sarcoma PNC009
Pancreas, Annular PNC118
Pancreas, Dorsal, Agenesis of PNC120
Pancreatic Acinar Cell Adenocarcinoma PNC015
Pancreatic Acth Hormone Producing Tumor PNC029
Pancreatic Adenocarcinoma PNC129
Pancreatic Adenoma PNC049
Pancreatic Adenosquamous Carcinoma PNC127
Pancreatic Agenesis PNC045
Pancreatic Agenesis 1 PNC106 PAGEN1
Pancreatic Agenesis 2 PNC105 PAGEN2
Pancreatic and Cerebellar Agenesis PNC104 PACA
Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus PNC050
Pancreatic Cancer PNC035 PNCA
Pancreatic Cancer 1 PNC094 PNCA1
Pancreatic Cancer 2 PNC111 PNCA2
Pancreatic Cancer 3 PNC095 PNCA3
Pancreatic Cancer 4 PNC103 PNCA4
Pancreatic Cancer 5 PNC132 PNCA5
Pancreatic Cholera PNC016
Pancreatic Colloid Cystadenoma PNC024
Pancreatic Cystadenocarcinoma PNC038
Pancreatic Cystadenoma PNC039
Pancreatic Delta Cell Neoplasm PNC040
Pancreatic Ductal Adenocarcinoma PNC041
Pancreatic Ductal Carcinoma PNC013
Pancreatic Endocrine Carcinoma PNC008
Pancreatic Foamy Gland Adenocarcinoma PNC031
Pancreatic Gastrinoma PNC027
Pancreatic Intraductal Papillary-Colloid Carcinoma PNC042 IPMN
Pancreatic Intraductal Papillary-Mucinous Adenoma PNC022
Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma PNC021
Pancreatic Invasive Mucinous Cystadenocarcinoma PNC003
Pancreatic Lipase Deficiency PNC048 PNLIPD
Pancreatic Lipomatosis Duodenal Stenosis PNC054
Pancreatic Lymphoma, Familial PNC125
Pancreatic Mucinous Cystadenoma PNC002
Pancreatic Mucinous Ductal Ectasia PNC026
Pancreatic Non-Functioning Delta Cell Tumor PNC023
Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma PNC030
Pancreatic Non-Invasive Mucinous Cystadenocarcinoma PNC004
Pancreatic Serous Cystadenocarcinoma PNC014
Pancreatic Serous Cystadenoma PNC018
Pancreatic Serous Cystic Neoplasm PNC017
Pancreatic Signet Ring Cell Adenocarcinoma PNC010
Pancreatic Solid Pseudopapillary Carcinoma PNC020
Pancreatic Somatostatinoma PNC006
Pancreatic Squamous Cell Carcinoma PNC126
Pancreatic Steatorrhea PNC028
Pancreatic Vasoactive Intestinal Peptide Producing Tumor PNC011
Pancreatitis PNC044
Pancreatitis, Hereditary PNC108 PCTT
Pancreatitis, Pediatric PNC055
Pancreatitis, Sclerosing Cholangitis, and Sicca Complex PNC124
Pancreatoblastoma PNC019
Pancytopenia PNC001
Pancytopenia and Occlusive Vascular Disease PNC121
Panhypophysitis PNH004
Panhypopituitarism, X-Linked PNH005 PHPX
Panic Disorder PNC025 PANIC
Panic Disorder 1 PNC122 PAND1
Panic Disorder 2 PNC070 PAND2
Panic Disorder 3 PNC068 PAND3
Panner Disease PNN003
Panniculitis PNN001
Panniculitis-Induced Localized Lipodystrophy PNN006
Panophthalmitis PNP001
Panostotic Fibrous Dysplasia PNS013
Panuveitis PNV001
Papillary Adenocarcinoma PPL018
Papillary Adenofibroma PPL016
Papillary Adenoma PPL001
Papillary Carcinoma PPL002
Papillary Carcinoma of the Cervix Uteri PPL043
Papillary Carcinoma of the Corpus Uteri PPL042
Papillary Conjunctivitis PPL019
Papillary Craniopharyngioma PPL009
Papillary Cystadenocarcinoma PPL003
Papillary Ependymoma PPL013
Papillary Extrahepatic Bile Duct Adenocarcinoma PPL008
Papillary Follicular Thyroid Adenocarcinoma PPL010
Papillary Glioneuronal Tumors PPL060 PGNT
Papillary Hidradenoma PPL017
Papillary Meningioma of the Cerebellum PPL011
Papillary Pattern Testicular Yolk Sac Tumor PPL012
Papillary Serous Adenocarcinoma PPL007
Papillary Squamous Carcinoma PPL004
Papillary Thymic Adenocarcinoma PPL015
Papillary Thyroid Microcarcinoma PPL035
Papillary Transitional Carcinoma PPL014
Papillary Tumor of the Pineal Region PPL050 PTPR
Papilledema PPL021
Papilloma PPL022
Papilloma of Choroid Plexus PPL058 CPP
Papillomatosis, Confluent and Reticulated PPL052 CARP
Papillomatosis, Florid, of Nipple PPL053
Papillon-Lefevre Syndrome PPL049 PALS
Papillorenal Syndrome PPL048 PAPRS
Papular Elastorrhexis PPL044
Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome PPL061
Papular Mucinosis PPL026
Papular Mucinosis of Infancy PPL045
Papular Urticaria PPL027
Papular Xanthoma PPL038
Paracetamol Poisoning PRC051
Parachordoma PRC011
Parachute Tricuspid Valve PRC042
Paracoccidioidomycosis PRC002 PCM
Paraganglioma PRG013
Paraganglioma and Gastric Stromal Sarcoma PRG017 PGGSS
Paragangliomas 1 PRG018 PGL1
Paragangliomas 2 PRG019 PGL2
Paragangliomas 3 PRG020 PGL3
Paragangliomas 4 PRG021 PGL4
Paragangliomas 5 PRG094 PGL5
Paragangliomas 6 PRG137 PGL6
Paragangliomas 7 PRG138 PGL7
Paragonimiasis PRG008
Parainfluenza Virus Type 3 PRN029 PIV3
Paralysis Agitans, Juvenile, of Hunt PRL020
Paralytic Facial Malformation PRL049
Paralytic Ileus PRL008
Paralytic Lagophthalmos PRL006
Paralytic Poliomyelitis PRL013
Paralytic Squint PRL014
Paramedian Facial Cleft PRM302
Parameningeal Embryonal Rhabdomyosarcoma PRM208
Parametritis PRM008
Parametrium Malignant Neoplasm PRM017
Paramolar Tubercle of Bolk PRM289
Paramyotonia Congenita of Von Eulenburg PRM057 PMC
Parana Hard-Skin Syndrome PRN056
Paranasal Sinus Cancer PRN020
Paranasal Sinus Cancer, Adult PRN030
Paranasal Sinus Disease PRN021
Paranasal Sinus Lymphoma PRN002
Paranasal Sinus Sarcoma PRN003
Paraneoplastic Cerebellar Degeneration PRN032
Paraneoplastic Limbic Encephalitis PRN068
Paraneoplastic Neurologic Disorders PRN033 PCD
Paraneoplastic Pemphigus PRN049
Paraneoplastic Polyneuropathy PRN018
Paraneoplastic Sensory Ganglionopathy PRN069
Paraneoplastic Syndromes PRN039
Paraneoplastic Uveitis PRN060
Paranoid Personality Disorder PRN010
Paranoid Schizophrenia PRN009
Paraomphalocele PRM033
Paraparetic Variant of Guillain-Barre Syndrome PRP108
Parapharyngeal Meningioma PRP008
Paraphilia Disorder PRP015
Paraphimosis PRP013
Paraplegia PRP016
Parapsoriasis PRP005
Paraquat Lung PRQ001
Paraquat Poisoning PRQ002
Parasagittal Meningioma PRS024
Parasitic Conjunctivitis PRS026
Parasitic Ectoparasitic Infectious Disease PRS033
Parasitic Eyelid Infestation PRS018
Parasitic Helminthiasis Infectious Disease PRS034
Parasitic Ichthyosporea Infectious Disease PRS035
Parasitic Myositis PRS140
Parasitic Protozoa Infectious Disease PRS036
Parasomnia, Sleep Bruxism Type PRS132 PSMNSB
Parasomnia, Sleepwalking Type PRS118 PSMNSW
Parastremmatic Dwarfism PRS051 PSTD
Paratesticular Adenocarcinoma PRT095
Paratesticular Lipoma PRT028
Parathyroid Adenoma PRT029
Parathyroid Carcinoma PRT010 PRTC
Parathyroid Gland Disease PRT030
Parathyroid Oncocytic Adenoma PRT020
Parathyroid Transitional Clear Cell Adenoma PRT021
Paratyphoid Fever PRT002
Paraurethral Gland Cancer PRR005
Paraurethral Gland Neoplasm PRR003
Parc Syndrome PRC021
Parenchymatous Neurosyphilis PRN006
Parenteral Nutrition-Associated Cholestasis PRN071 PNAC
Paresthesia PRS063
Parietal Encephalocele PRT087
Parietal Foramina PRT042 FPP
Parietal Foramina 1 PRT059 PFM1
Parietal Foramina 2 PRT060 PFM2
Parietal Foramina 3 PRT113 PFM3
Parietal Foramina with Cleidocranial Dysplasia PRT043 PFMCCD
Parietal Lobe Ependymoma PRT099
Parietal Lobe Neoplasm PRT023
Parkes Weber Syndrome PRK003 PKWS
Parkin Type of Early-Onset Parkinson Disease PRK046
Parkinson Disease 1, Autosomal Dominant PRK085 PARK1
Parkinson Disease 10 PRK025 PARK10
Parkinson Disease 11, Autosomal Dominant PRK094 PARK11
Parkinson Disease 12 PRK022 PARK12
Parkinson Disease 13, Autosomal Dominant PRK096 PARK13
Parkinson Disease 14, Autosomal Recessive PRK071 PARK14
Parkinson Disease 15, Autosomal Recessive Early-Onset PRK086 PARK15
Parkinson Disease 16 PRK058 PARK16
Parkinson Disease 17 PRK052 PARK17
Parkinson Disease 18, Autosomal Dominant PRK099 PARK18
Parkinson Disease 19a, Juvenile-Onset PRK081 PARK19A
Parkinson Disease 2, Autosomal Recessive Juvenile PRK089 PARK2
Parkinson Disease 20, Early-Onset PRK065 PARK20
Parkinson Disease 21 PRK070 PARK21
Parkinson Disease 22, Autosomal Dominant PRK083 PARK22
Parkinson Disease 23, Autosomal Recessive Early-Onset PRK100 PARK23
Parkinson Disease 3, Autosomal Dominant PRK090 PARK3
Parkinson Disease 4, Autosomal Dominant PRK091 PARK4
Parkinson Disease 5, Autosomal Dominant PRK098 PARK5
Parkinson Disease 6, Autosomal Recessive Early-Onset PRK092 PARK6
Parkinson Disease 7, Autosomal Recessive Early-Onset PRK021 PARK7
Parkinson Disease 8, Autosomal Dominant PRK093 PARK8
Parkinson Disease, Late-Onset PRK057 PD
Parkinson Disease, Mitochondrial PRK088
Parkinson-Dementia Syndrome PRK087 PARDE
Parkinsonism PRK039
Parkinsonism with Spasticity, X-Linked PRK066 XPDS
Parkinsonism-Dystonia, Infantile, 1 PRK101 PKDYS1
Parkinsonism-Dystonia, Infantile, 2 PRK102 PKDYS2
Paronychia PRN014
Parotid Disease PRT031
Parotid Gland Adenoid Cystic Carcinoma PRT100
Parotid Gland Cancer PRT009
Parotid Salivary Glands, Polycystic Dysgenetic Disease of PRT122 PDDP
Parotidomegaly, Hereditary Bilateral PRT116
Parotitis PRT026
Parotitis, Juvenile Recurrent PRT125
Parovarian Cyst PRV001
Paroxysmal Choreoathetosis PRX022
Paroxysmal Cold Hemoglobinuria PRX008 PCH
Paroxysmal Dyskinesia PRX035
Paroxysmal Dystonia PRX097
Paroxysmal Exertion-Induced Dyskinesia PRX086 PED
Paroxysmal Extreme Pain Disorder PRX015 PEPD
Paroxysmal Hemicrania PRX009
Paroxysmal Nocturnal Hemoglobinuria PRX003 PNH
Paroxysmal Nocturnal Hemoglobinuria 1 PRX094 PNH1
Paroxysmal Nocturnal Hemoglobinuria 2 PRX067 PNH2
Paroxysmal Nonkinesigenic Dyskinesia 1 PRX088 PNKD1
Paroxysmal Nonkinesigenic Dyskinesia 2 PRX024 PNKD2
Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy PRX090 PNKD3
Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia PRX084
Paroxysmal Ventricular Fibrillation PRX010 IVF
Paroxysomal Nonkinesigenic Dyskinesia PRX087
Pars Planitis PRS012
Parsonage Turner Syndrome PRS053
Parthenolide Allergic Contact Dermatitis PRT137
Partial Arterial Retinal Occlusion PRT027
Partial Atrioventricular Canal PRT048 PAVC
Partial Atrioventricular Septal Defect with Ventricular Hypoplasia PRT252
Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia PRT253
Partial Autosomal Monosomy PRT249
Partial Autosomal Trisomy/tetrasomy PRT248
Partial Bilateral Aplasia of the Mullerian Ducts PRT139
Partial Central Choroid Dystrophy PRT032
Partial Circumpapillary Choroid Dystrophy PRT016
Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome PRT098
Partial Cryptophthalmia PRT091
Partial Deep Dermal and Full Thickness Burns PRT089
Partial Deletion of Chromosome 1 PRT141
Partial Deletion of Chromosome 10 PRT152
Partial Deletion of Chromosome 11 PRT153
Partial Deletion of Chromosome 12 PRT245
Partial Deletion of Chromosome 16 PRT151
Partial Deletion of Chromosome 17 PRT155
Partial Deletion of Chromosome 18 PRT154
Partial Deletion of Chromosome 19 PRT157
Partial Deletion of Chromosome 2 PRT144
Partial Deletion of Chromosome 20 PRT156
Partial Deletion of Chromosome 3 PRT145
Partial Deletion of Chromosome 4 PRT142
Partial Deletion of Chromosome 5 PRT143
Partial Deletion of Chromosome 6 PRT148
Partial Deletion of Chromosome 7 PRT149
Partial Deletion of Chromosome 8 PRT146
Partial Deletion of Chromosome 9 PRT147
Partial Deletion of the Long Arm of Chromosome 1 PRT174
Partial Deletion of the Long Arm of Chromosome 11 PRT184
Partial Deletion of the Long Arm of Chromosome 12 PRT150
Partial Deletion of the Long Arm of Chromosome 13 PRT185
Partial Deletion of the Long Arm of Chromosome 14 PRT235
Partial Deletion of the Long Arm of Chromosome 15 PRT236
Partial Deletion of the Long Arm of Chromosome 16 PRT237
Partial Deletion of the Long Arm of Chromosome 17 PRT238
Partial Deletion of the Long Arm of Chromosome 18 PRT239
Partial Deletion of the Long Arm of Chromosome 19 PRT240
Partial Deletion of the Long Arm of Chromosome 2 PRT175
Partial Deletion of the Long Arm of Chromosome 20 PRT241
Partial Deletion of the Long Arm of Chromosome 21 PRT242
Partial Deletion of the Long Arm of Chromosome 22 PRT227
Partial Deletion of the Long Arm of Chromosome 3 PRT176
Partial Deletion of the Long Arm of Chromosome 4 PRT177
Partial Deletion of the Long Arm of Chromosome 5 PRT178
Partial Deletion of the Long Arm of Chromosome 6 PRT179
Partial Deletion of the Long Arm of Chromosome 7 PRT180
Partial Deletion of the Long Arm of Chromosome 8 PRT181
Partial Deletion of the Short Arm of Chromosome 1 PRT159
Partial Deletion of the Short Arm of Chromosome 10 PRT166
Partial Deletion of the Short Arm of Chromosome 11 PRT169
Partial Deletion of the Short Arm of Chromosome 12 PRT244
Partial Deletion of the Short Arm of Chromosome 16 PRT168
Partial Deletion of the Short Arm of Chromosome 18 PRT171
Partial Deletion of the Short Arm of Chromosome 19 PRT172
Partial Deletion of the Short Arm of Chromosome 2 PRT158
Partial Deletion of the Short Arm of Chromosome 3 PRT161
Partial Deletion of the Short Arm of Chromosome 4 PRT160
Partial Deletion of the Short Arm of Chromosome 5 PRT163
Partial Deletion of the Short Arm of Chromosome 6 PRT162
Partial Deletion of the Short Arm of Chromosome 7 PRT165
Partial Deletion of the Short Arm of Chromosome 8 PRT164
Partial Deletion of the Short Arm of Chromosome 9 PRT167
Partial Deletion of Y PRT049
Partial Duplication of Chromosome 1 PRT228
Partial Duplication of Chromosome 11 PRT223
Partial Duplication of Chromosome 16 PRT226
Partial Duplication of Chromosome 17 PRT225
Partial Duplication of Chromosome 19 PRT213
Partial Duplication of Chromosome 2 PRT229
Partial Duplication of Chromosome 3 PRT230
Partial Duplication of Chromosome 4 PRT231
Partial Duplication of Chromosome 6 PRT233
Partial Duplication of Chromosome 7 PRT234
Partial Duplication of Chromosome 8 PRT222
Partial Duplication of Chromosome X PRT187
Partial Duplication of the Long Arm of Chromosome 13 PRT199
Partial Duplication of the Long Arm of Chromosome 14 PRT198
Partial Duplication of the Long Arm of Chromosome 15 PRT197
Partial Duplication of the Long Arm of Chromosome 17 PRT191
Partial Duplication of the Long Arm of Chromosome 19 PRT189
Partial Duplication of the Long Arm of Chromosome 2 PRT200
Partial Duplication of the Long Arm of Chromosome 22 PRT192
Partial Duplication of the Long Arm of Chromosome 3 PRT201
Partial Duplication of the Long Arm of Chromosome 4 PRT204
Partial Duplication of the Long Arm of Chromosome 6 PRT202
Partial Duplication of the Long Arm of Chromosome 7 PRT203
Partial Duplication of the Long Arm of Chromosome 8 PRT195
Partial Duplication of the Long Arm of Chromosome X PRT186
Partial Duplication of the Short Arm of Chromosome 1 PRT243
Partial Duplication of the Short Arm of Chromosome 11 PRT211
Partial Duplication of the Short Arm of Chromosome 16 PRT212
Partial Duplication of the Short Arm of Chromosome 17 PRT209
Partial Duplication of the Short Arm of Chromosome 19 PRT247
Partial Duplication of the Short Arm of Chromosome 2 PRT215
Partial Duplication of the Short Arm of Chromosome 3 PRT218
Partial Duplication of the Short Arm of Chromosome 4 PRT217
Partial Duplication of the Short Arm of Chromosome 6 PRT219
Partial Duplication of the Short Arm of Chromosome 7 PRT207
Partial Duplication of the Short Arm of Chromosome 8 PRT208
Partial Duplication of the Short Arm of Chromosome X PRT106
Partial Fetal Alcohol Syndrome PRT001
Partial Hydatidiform Mole PRT086
Partial Monosomy of the Long Arm of Chromosome 10 PRT183
Partial Monosomy of the Long Arm of Chromosome 9 PRT182
Partial Monosomy of the Short Arm of Chromosome 17 PRT170
Partial Monosomy of the Short Arm of Chromosome 20 PRT173
Partial Motor Epilepsy PRT006
Partial of Retinal Vein Occlusion PRT007
Partial Optic Atrophy PRT024
Partial Sensory Epilepsy PRT004
Partial Septate Uterus PRT111
Partial Third-Nerve Palsy PRT015
Partial Trisomy Distal 4q PRT131
Partial Trisomy of Chromosome 20 PRT216
Partial Trisomy of the Long Arm of Chromosome 16 PRT196
Partial Trisomy of the Long Arm of Chromosome 18 PRT190
Partial Trisomy of the Long Arm of Chromosome 20 PRT188
Partial Trisomy of the Long Arm of Chromosome 5 PRT205
Partial Trisomy of the Long Arm of Chromosome 9 PRT194
Partial Trisomy/tetrasomy of Chromosome 18 PRT214
Partial Trisomy/tetrasomy of Chromosome 5 PRT232
Partial Trisomy/tetrasomy of Chromosome 9 PRT221
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12 PRT224
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18 PRT210
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5 PRT220
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9 PRT206
Partially Involuting Congenital Hemangioma PRT109
Partington X-Linked Mental Retardation Syndrome PRT052 PRTS
Partington-Anderson Syndrome PRT120
Parvovirus Antenatal Infection PRV008
Passovoy Factor Defect PSS004
Pasteurella Multocida Infection PST037
Pasteurellosis PST010
Patau Syndrome PTS001
Patella Aplasia-Hypoplasia PTL010 PTLAH
Patella, Chondromalacia of PTL009
Patella, Familial Recurrent Dislocation of PTL011
Patellar Dysostosis PTL012
Patellar Tendinitis PTL003
Patellofemoral Pain Syndrome PTL002
Patent Blue V Allergy PTN015
Patent Ductus Arteriosus 1 PTN014 PDA1
Patent Ductus Arteriosus 2 PTN013 PDA2
Patent Ductus Arteriosus 3 PTN012 PDA3
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies PTN011
Patent Ductus Venosus PTN004 PDV
Patent Foramen Ovale PTN001 OSASD
Patent Urachus PTN009
Paternal 20q13.2q13.3 Microdeletion Syndrome PTR014
Paternal Uniparental Disomy PTR034
Paternal Uniparental Disomy of Chromosome 1 PTR011
Paternal Uniparental Disomy of Chromosome 13 PTR023
Paternal Uniparental Disomy of Chromosome 20 PTR020
Paternal Uniparental Disomy of Chromosome 21 PTR021
Paternal Uniparental Disomy of Chromosome 5 PTR019
Paternal Uniparental Disomy of Chromosome 6 PTR018
Paternal Uniparental Disomy of Chromosome 7 PTR022
Paternal Uniparental Disomy of Chromosome X PTR015
Pathologic Nystagmus PTH003
Pathological Gambling PTH002
Pattern Dystrophy PTT063
Patterned Macular Dystrophy PTT054
Patterson Pseudoleprechaunism Syndrome PTT016
Patulous Eustachian Tube PTL001 PET
Pauciarticular Chronic Arthritis PCR001
Pauciarticular Onset Juvenile Idiopathic Arthritis PCR003
Pauci-Immune Glomerulonephritis PCM002
Pauci-Immune Glomerulonephritis with Anca PCM004
Pauci-Immune Glomerulonephritis Without Anca PCM003
Pax2-Related Disorder PX2001
Pax6-Related Aniridia PX6002
Pcdh19-Related Female-Limited Epilepsy PCD002 EFMR
Pdgfra-Associated Chronic Eosinophilic Leukemia PDG001
Pdgfrb-Associated Chronic Eosinophilic Leukemia PDG002
Peach Allergy PCH016
Peanut Allergy PNT038
Pearson Marrow-Pancreas Syndrome PRS127
Pechet Factor Deficiency PCH019
Pectus Carinatum PCT001
Pectus Excavatum PCT003
Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails PCT002
Pediatric Acute-Onset Neuropsychiatric Syndrome PDT043 PANS
Pediatric Angiosarcoma PDT004
Pediatric Arterial Ischemic Stroke PDT041
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus Infections PDT045
Pediatric Cerebral Ependymoblastoma PDT012
Pediatric Cns Choriocarcinoma PDT011
Pediatric Cns Embryonal Cell Carcinoma PDT006
Pediatric Collagenous Gastritis PDT044
Pediatric Ependymoma PDT014
Pediatric Epithelioid Sarcoma PDT008
Pediatric Extraocular Retinoblastoma PDT013
Pediatric Fibrosarcoma PDT019
Pediatric Germ Cell Cancer PDT020
Pediatric Hepatocellular Carcinoma PDT042
Pediatric Infratentorial Ependymoblastoma PDT017
Pediatric Infratentorial Ependymoma PDT016
Pediatric Intraocular Retinoblastoma PDT010
Pediatric Leptomeningeal Melanoma PDT007
Pediatric Liposarcoma PDT009
Pediatric Lymphoma PDT001
Pediatric Meningioma PDT002
Pediatric Mesenchymal Chondrosarcoma PDT005
Pediatric Multiple Sclerosis PDT025
Pediatric Myxoid Chondrosarcoma PDT018
Pediatric Osteosarcoma PDT021
Pediatric Ovarian Dysgerminoma PDT003
Pediatric Ovarian Germ Cell Tumor PDT022
Pediatric Supratentorial Ependymoma PDT015
Pediatric Systemic Lupus Erythematosus PDT035
Pediatric T-Cell Leukemia PDT026
Pediatric Testicular Germ Cell Tumor PDT023
Pediatric Ulcerative Colitis PDT027
Pediatric-Onset Glaucoma PDT047
Pediatric-Onset Glaucoma of Genetic Origin PDT048
Pediatric-Onset Graves Disease PDT046
Pediculus Humanus Capitis Infestation PDC002
Pediculus Humanus Corporis Infestation PDC003
Pedophilia PDP001
Peeling Skin Syndrome PLN008 PSS
Peeling Skin Syndrome 1 PLN017 PSS1
Peeling Skin Syndrome 2 PLN018 PSS2
Peeling Skin Syndrome 3 PLN021 PSS3
Peeling Skin Syndrome 4 PLN024 PSS4
Peeling Skin Syndrome 5 PLN025 PSS5
Peeling Skin Syndrome 6 PLN028 PSS6
Peeling Skin Syndrome Type a PLN016
Peeling Skin Syndrome Type C PLN027
Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads PLN020 PLACK
Peho Syndrome PHS005 PEHO
Peho-Like Syndrome PHL010 PEHOL
Pelger-Huet Anomaly PLG001 PHA
Pelger-Huet Anomaly with Mild Skeletal Anomalies PLG010 PHASK
Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain PLG009
Peliosis Hepatis PLS002
Pelizaeus-Merzbacher Disease PLZ001 PMD
Pelizaeus-Merzbacher Disease in Female Carriers PLZ009
Pelizaeus-Merzbacher Disease, Classic Form PLZ007
Pelizaeus-Merzbacher Disease, Transitional Form PLZ008
Pelizaeus-Merzbacher-Like Disease PLZ002 PMLD
Pellagra PLL002
Pellagra-Like Syndrome PLL014
Pellucid Marginal Degeneration PLL009
Pelvic Hypoplasia with Lower-Limb Arthrogryposis PLV018
Pelvic Inflammatory Disease PLV003 PID
Pelvic Lipomatosis PLV001
Pelvic Lipomatosis with Crossed Renal Ectopia PLV019
Pelvic Muscle Wasting PLV002
Pelvic Organ Prolapse PLV020
Pelvic Organ Prolapse 2 PLV014 PVOP2
Pelvic Varices PLV004
Pelvis-Shoulder Dysplasia PLV015
Pemphigoid PMP014
Pemphigoid Gestationis PMP002
Pemphigus PMP001
Pemphigus and Fogo Selvagem PMP003 FS
Pemphigus Erythematosus PMP009
Pemphigus Foliaceus PMP004 PF
Pemphigus Gestationis PMP013
Pemphigus Vegetans PMP008
Pemphigus Vulgaris, Familial PMP006
Pendred Syndrome PND002 PDS
Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct PND005
Penicillin Allergy PNC085
Penicilliosis PNC005
Penile Agenesis PNL023
Penile Benign Neoplasm PNL025
Penile Cancer PNL012
Penile Disease PNL013
Penile Urethral Cancer PNL006
Penis Agenesis PNS014
Penis Basal Cell Carcinoma PNS008
Penis Basaloid Carcinoma PNS003
Penis Carcinoma in Situ PNS002
Penis Mixed Squamous Cell Carcinoma PNS005
Penis Non-Invasive Verrucous Carcinoma PNS001
Penis Paget's Disease PNS004
Penis Papillary Carcinoma PNS006
Penis Sarcoma PNS007
Penis Squamous Cell Carcinoma PNS010
Penis Verrucous Carcinoma PNS011
Penoscrotal Transposition PNS015
Pentosuria PNT006 PNTSU
Pepck 1 Deficiency PPC001
Peptic Esophagitis PPT001
Peptic Ulcer Disease PPT005
Peptic Ulcer Perforation PPT002
Perching Syndrome PRC054 PERCHING
Perforated Corneal Ulcer PRF002
Perforation of Bile Duct PRF001
Periampullary Adenocarcinoma PRM014
Periampullary Adenoma PRM190
Perianal Hematoma PRN017
Perianal Skin Paget's Disease PRN012
Periapical Granuloma PRP002
Periapical Periodontitis PRP017
Periarthritis PRR001
Pericardial and Diaphragmatic Defect PRC041
Pericardial Effusion PRC012
Pericardial Effusion, Chronic PRC052
Pericardial Mesothelioma PRC010
Pericardial Tuberculosis PRC005
Pericarditis PRC013
Pericardium Cancer PRC014
Pericardium Disease PRC050
Pericardium Leiomyoma PRC006
Pericholangitis PRC008
Perichondritis of Auricle PRC015
Pericoronitis PRC001
Periductal Breast Myoepitheliosis PRD005
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial PRF005
Perilymphatic Fistula PRL021
Perinatal Intestinal Perforation PRN015
Perinatal Jaundice Due to Hepatocellular Damage PRN005
Perinatal Necrotizing Enterocolitis PRN019 NEC
Perineocele PRN004
Perinephritis PRN007
Perineural Angioma PRN013
Perineurioma PRN022
Periocular Meningioma PRC007
Periodic Fever Syndrome of Childhood PRD046
Periodic Fever, Familial, Autosomal Dominant PRD013 FPF
Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome PRD048 PFITS
Periodic Fever, Menstrual Cycle-Dependent PRD041 PFMC
Periodic Limb Movement Disorder PRD002
Periodic Paralyses PRD017
Periodic Paralysis PRD021
Periodic Paralysis with Later-Onset Distal Motor Neuropathy PRD033
Periodic Paralysis with Transient Compartment-Like Syndrome PRD032
Periodontal Ehlers-Danlos Syndrome PRD037 PEDS
Periodontitis PRD008
Periodontitis, Aggressive, 1 PRD039 AP1
Periodontitis, Aggressive, 2 PRD018
Periodontitis, Chronic PRD040
Periodontosis PRD003
Perioral Myoclonia with Absences PRR019 POMA
Periosteal Chondrosarcoma PRS016
Periosteal Osteogenic Sarcoma PRS029
Periostitis PRS037
Peripapillary Atrophy, Beta Type PRP100 PPAB
Peripapillary Staphyloma PRP103
Peripartum Cardiomyopathy PRP009 PPCM
Peripheral Arterial Occlusive Disease 1 PRP050 PAOD1
Peripheral Artery Disease PRP080
Peripheral Cone Dystrophy PRP099
Peripheral Degeneration of Cornea PRP014
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease PRP066 PCWH
Peripheral Dysostosis PRP090
Peripheral Epithelioid Sarcoma PRP006
Peripheral Focal Chorioretinitis PRP012
Peripheral Hypothyroidism PRP107
Peripheral Nerve Schwannoma PRP018
Peripheral Nervous System Benign Neoplasm PRP105
Peripheral Nervous System Disease PRP019
Peripheral Nervous System Ganglioneuroblastoma PRP020
Peripheral Nervous System Neoplasm PRP021
Peripheral Neuropathy Associated with Monoclonal Gammopathy PRP106
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain PRP096
Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development PRP102 PNRIID
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss PRP075 PNMHH
Peripheral Osteosarcoma PRP024
Peripheral Pulmonary Stenosis PRP101
Peripheral Resistance to Thyroid Hormones PRP074
Peripheral Retinal Degeneration PRP026
Peripheral Scars of Retina PRP004
Peripheral T-Cell Lymphoma PRP036
Peripheral Vascular Disease PRP027 PAD
Peripheral Vertigo PRP028
Peritoneal Benign Neoplasm PRT033
Peritoneal Cystic Mesothelioma PRT085
Peritoneal Mesothelioma PRT096
Peritoneal Serous Adenocarcinoma PRT034
Peritoneal Serous Papillary Adenocarcinoma PRT017
Peritoneum Cancer PRT035
Peritonitis PRT036
Perivascular Epithelioid Cell Neoplasm PRV023
Perivascular Epithelioid Cell Tumor PRV003
Periventricular Heterotopia with Microcephaly, Autosomal Recessive PRV020 ARPHM
Periventricular Leukomalacia PRV004 PVL
Periventricular Nodular Heterotopia PRV002 PVNH
Periventricular Nodular Heterotopia 1 PRV019 PVNH1
Periventricular Nodular Heterotopia 3 PRV013 PVNH3
Periventricular Nodular Heterotopia 6 PRV016 PVNH6
Periventricular Nodular Heterotopia 7 PRV018 PVNH7
Periventricular Nodular Heterotopia 8 PRV021 PVNH8
Periventricular Nodular Heterotopia 9 PRV022 PVNH9
Perlecan-Related Bone Disorder PRL050
Perlman Syndrome PRL032 PRLMNS
Permanent Congenital Hypothyroidism PRM315
Permanent Molars, Secondary Retention of PRM288
Permanent Neonatal Diabetes Mellitus PRM030 PDMI
Pernicious Anemia PRN011
Perniosis PRN035
Peroneal Nerve Paralysis PRN008
Peroneal Nerve, Accessory Deep PRN063
Peroneal Neuropathy PRN016
Peroneus Tertius Muscle, Absence of PRN065
Peroxidase, Salivary PRX092 SAPX
Peroxisomal Acyl-Coa Oxidase Deficiency PRX028 PSEUDO-NALD
Peroxisomal Beta-Oxidation Disorder PRX076
Peroxisomal Biogenesis Disorder PRX005
Peroxisomal Disease PRX001
Peroxisomal Disease with Epilepsy PRX098
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder PRX072 PFCRD
Peroxisome Biogenesis Disorder 10a PRX048 PBD10A
Peroxisome Biogenesis Disorder 10b PRX089 PBD10B
Peroxisome Biogenesis Disorder 11a PRX055 PBD11A
Peroxisome Biogenesis Disorder 11b PRX056 PBD11B
Peroxisome Biogenesis Disorder 12a PRX054 PBD12A
Peroxisome Biogenesis Disorder 13a PRX052 PBD13A
Peroxisome Biogenesis Disorder 14b PRX053 PEX14B
Peroxisome Biogenesis Disorder 1a PRX059 PBD1A
Peroxisome Biogenesis Disorder 1b PRX045 PBD1B
Peroxisome Biogenesis Disorder 2a PRX063 PBD2A
Peroxisome Biogenesis Disorder 2b PRX064 PBD2B
Peroxisome Biogenesis Disorder 3a PRX065 PBD3A
Peroxisome Biogenesis Disorder 3b PRX066 PBD3B
Peroxisome Biogenesis Disorder 4a PRX057 PBD4A
Peroxisome Biogenesis Disorder 4b PRX058 PBD4B
Peroxisome Biogenesis Disorder 5a PRX060 PBD5A
Peroxisome Biogenesis Disorder 5b PRX047 PBD5B
Peroxisome Biogenesis Disorder 6a PRX051 PBD6A
Peroxisome Biogenesis Disorder 6b PRX043 PBD6B
Peroxisome Biogenesis Disorder 7a PRX046 PBD7A
Peroxisome Biogenesis Disorder 7b PRX068 PBD7B
Peroxisome Biogenesis Disorder 8a PRX091 PBD8A
Peroxisome Biogenesis Disorder 8b PRX062 PBD8B
Peroxisome Biogenesis Disorder 9b PRX050 PBD9B
Perrault Syndrome PRR025
Perrault Syndrome 1 PRR020 PRLTS1
Perrault Syndrome 2 PRR022 PRLTS2
Perrault Syndrome 3 PRR024 PRLTS3
Perrault Syndrome 4 PRR021 PRLTS4
Perrault Syndrome 5 PRR026 PRLTS5
Perrault Syndrome 6 PRR033 PRLTS6
Perry Syndrome PRR007 PERRYS
Persian Gulf Syndrome PRS011
Persistent Combined Dystonia PRS141
Persistent Eustachian Valve PRS112
Persistent Fetal Circulation Syndrome PRS030
Persistent Fifth Aortic Arch PRS111
Persistent Generalized Lymphadenopathy PRS123 PGL
Persistent Genital Arousal Disorder PRS119 PGAD
Persistent Hyperplastic Primary Vitreous PRS062 PFVS
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant PRS137 PHPVAD
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive PRS122 PHPVAR
Persistent Idiopathic Facial Pain PRS120 AFP
Persistent Left Superior Vena Cava Connecting Through Coronary Sinus to Left-Sided Atrium PRS139
Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium PRS138
Persistent Mild Asthma PRS142
Persistent Moderate Asthma PRS143
Persistent Mullerian Duct Syndrome PRS049 PMDS
Persistent Mullerian Duct Syndrome, Types I and Ii PRS128 PMDS
Persistent Placoid Maculopathy PRS110
Persistent Polyclonal B-Cell Lymphocytosis PRS108 PPBL
Persistent Severe Asthma PRS144
Persistent Vegetative State PRS064
Personality Disorder PRS038
Pertussis PRT037
Pervasive Developmental Disorder PRV006
Pes Anserinus Tendinitis or Bursitis PSN001
Peters-Plus Syndrome PTR032 PTRPLS
Petroclival Meningioma PTR002
Petrositis PTR001
Petrous Apex Meningioma PTR003
Pettigrew Syndrome PTT059 PGS
Peutz-Jeghers Syndrome PTZ001 PJS
Peyronie Disease PYR039
Peyronie's Disease PYR010
Pfeiffer Kapferer Syndrome PFF002
Pfeiffer Mayer Syndrome PFF003
Pfeiffer Rockelein Syndrome PFF005
Pfeiffer Syndrome PFF001 PS
Pfeiffer Tietze Welte Syndrome PFF006
Pfeiffer-Palm-Teller Syndrome PFF010
Pgm3-Congenital Disorder of Glycosylation PGM031
Phace Association PHC018
Phacoanaphylactic Uveitis PHC015
Phacogenic Glaucoma PHC002
Phacolytic Glaucoma PHC001
Phacomatosis Pigmentokeratotica PHC005
Phacomatosis Pigmentovascularis PHC006 PPV
Phaeohyphomycosis PHH001
Phagocyte Bactericidal Dysfunction PHG002
Phagocytosis, Plasma-Related Defect in PHG003
Phakomatosis Cesioflammea PHK008
Phakomatosis Cesiomarmorata PHK009
Phakomatosis Pigmentokeratotica PHK006
Phakomatosis Spilorosea PHK010
Phalangeal Microgeodic Syndrome PHL009
Phalanx Chondroma PHL011
Pharyngeal-Cervical-Brachial Variant of Guillain-Barre Syndrome PHR010
Pharyngitis PHR003
Pharyngoconjunctival Fever PHR002
Pharynx Cancer PHR004
Pharynx Carcinoma in Situ PHR001
Pharynx Squamous Cell Carcinoma PHR008
Phaver Syndrome PHV001
Phelan-Mcdermid Syndrome PHL006 PHMDS
Phencyclidine Abuse PHN001
Phenformin 4-Hydroxylation PHN014
Phenobarbital Allergy PHN015
Phenobarbital Antenatal Exposure PHN013
Phenylketonuria PHN003 PKU
Phenytoin Allergy PHN016
Phenytoin Toxicity PHN011
Pheochromocytoma PHC003 PCC
Pheochromocytoma--Islet Cell Tumor Syndrome PHC017
Pheochromocytoma-Paraganglioma PHC019
Philadelphia-Negative Chronic Myeloid Leukemia PHL007
Philophthalmiasis PHL002
Phimosis PHM001
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome PHP002
Phlebectasia of Lips PHL012
Phlebotomus Fever PHL003
Phlegmonous Dacryocystitis PHL004
Phlyctenulosis PHL001
Phobia, Specific PHB003
Phobic Disorder PHB001
Phocomelia PHC014
Phocomelia Ectrodactyly Deafness Sinus Arrhythmia PHC009
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia PHC016
Phonagnosia PHN002
Phosphatase, Acid, of Tissues PHS025
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic PHS029 PCKDC
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial PHS028 PCKDM
Phosphoglucomutase 4 PHS026 PGM4
Phosphoglycerate Dehydrogenase Deficiency PHS021 PHGDHD
Phosphoglycerate Kinase 1 Deficiency PHS014 PGK1D
Phosphoglycoprotein 1 PHS027 PGP1
Phosphohydroxylysinuria PHS019 PHLU
Phosphomannoisomerase Deficiency PHS011
Phosphoribosylpyrophosphate Synthetase Superactivity PHS004 PRPS1 SUPERACTIVITY
Phosphorus Metabolism Disease PHS001
Phosphorylase Kinase Deficiency PHS018 GSDIX
Phosphoserine Aminotransferase Deficiency PHS023 PSATD
Phosphoserine Phosphatase Deficiency PHS022 PSPHD
Photoallergic Dermatitis PHT004
Photokeratitis PHT002
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction PHT013
Photoparoxysmal Response 1 PHT010 PPR1
Photoparoxysmal Response 2 PHT009 PPR2
Photoparoxysmal Response 3 PHT011 PPR3
Photosensitive Epilepsy PHT008 PSE
Phototoxic Dermatitis PHT003
Phthalic Anhydride Allergic Asthma PHT014
Phthalyl Group Allergy PHT015
Phthisical Cornea PHT005
Physical Disorder PHY002
Physical Urticaria PHY008
Physiological Polycythemia PHY001
Pica Disease PCD001 PICA
Pick Disease of Brain PCK003 PIDB
Piebald Trait PBL005 PBT
Piebald Trait with Neurologic Defects PBL004
Piepkorn Karp Hickok Syndrome PPK001
Pierpont Syndrome PRP093 PRPTS
Pierre Robin Sequence with Facial and Digital Anomalies PRR030
Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies PRR011
Pierre Robin Syndrome PRR016 PRBNS
Pierre Robin Syndrome and Oligodactyly PRR029
Pierre Robin Syndrome Associated with a Chromosomal Anomaly PRR037
Pierre Robin Syndrome Associated with Bone Disease PRR038
Pierre Robin Syndrome Associated with Branchial Archs Anomalies PRR039
Pierre Robin Syndrome Associated with Collagen Disease PRR036
Pierre Robin Syndrome Skeletal Dysplasia Polydactyly PRR012
Pierson Syndrome PRS055 PIERSS
Piezo1-Related Generalized Lymphatic Dysplasia with Non-Immune Hydrops Fetalis PZ1002
Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked PGM029 PDR
Pigmentation Anomaly of the Skin PGM030
Pigmentation Disease PGM003
Pigmented Basal Cell Carcinoma PGM002
Pigmented Nodular Adrenocortical Disease, Primary, 1 PGM021 PPNAD1
Pigmented Nodular Adrenocortical Disease, Primary, 2 PGM011 PPNAD2
Pigmented Nodular Adrenocortical Disease, Primary, 3 PGM012 PPNAD3
Pigmented Nodular Adrenocortical Disease, Primary, 4 PGM022 PPNAD4
Pigmented Paravenous Chorioretinal Atrophy PGM007 PPCRA
Pigmented Purpuric Eruption PGM010
Pigmented Villonodular Synovitis PGM001 TGCT
Pik3ca-Related Overgrowth Spectrum PK3004
Pik3ca-Related Overgrowth Syndrome PK3005 PROS
Pik3ca-Related Segmental Overgrowth PK3001
Pilar Sheath Acanthoma PLR003
Pilarowski-Bjornsson Syndrome PLR024 PILBOS
Pili Bifurcati PLB003
Pili Gemini PLG007
Pili Torti PLT008
Pili Torti Developmental Delay Neurological Abnormalities PLT009
Pili Torti Onychodysplasia PLT010
Pili Torti, Early-Onset PLT022
Pilocytic Astrocytoma PLC011
Pilocytic Astrocytoma of Cerebellum PLC004
Pilodental Dysplasia with Refractive Errors PLD002
Pilomatrix Carcinoma PLM177
Pilomatrixoma PLM026 PTR
Pilomyxoid Astrocytoma PLM021
Pilonidal Sinus PLN026
Pilotto Syndrome PLT011
Pineal Dysgerminoma PNL008
Pineal Gland Astrocytoma PNL001
Pineal Gland Cancer PNL014
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities PNL019 RMS
Pineal Parenchymal Tumor of Intermediate Differenciation PNL022
Pineal Parenchymal Tumor of Intermediate Differentiation PNL002 PPTID
Pineal Region Choriocarcinoma PNL009
Pineal Region Germinoma PNL011
Pineal Region Immature Teratoma PNL005
Pineal Region Mature Teratoma PNL004
Pineal Region Meningioma PNL003
Pineal Region Teratoma PNL015
Pineal Region Yolk Sac Tumor PNL010
Pineal Tumor of Neuroepithelial Tissue PNL024
Pineoblastoma PNB001
Pineocytoma PNC056
Pinguecula PNG001
Pinheiro Freire-Maia Miranda Syndrome PNH003
Pink1 Type of Young-Onset Parkinson Disease PNK001
Pinnae and External Auditory Canal Anomaly PNN007
Pinnae Fistula or Cyst PNN004
Pinta Disease PNT003 AZUL
Pipecolic Acidemia PPC004
Piperacillin Allergy PPR002
Piriformis Syndrome PRF003
Pitt-Hopkins Syndrome PTT014 PTHS
Pitt-Hopkins-Like Syndrome PTT042
Pitt-Hopkins-Like Syndrome 1 PTT029 PTHSL1
Pitt-Hopkins-Like Syndrome 2 PTT030 PTHSL2
Pituicytoma PTC005
Pituitary Adenoma PTT006
Pituitary Adenoma 1, Multiple Types PTT056 PITA1
Pituitary Adenoma 2, Growth Hormone-Secreting PTT058 PITA2
Pituitary Adenoma 3, Multiple Types PTT061 PITA3
Pituitary Adenoma 4, Acth-Secreting PTT057 PITA4
Pituitary Adenoma 5, Multiple Types PTT060 PITA5
Pituitary Adenoma, Prolactin-Secreting PTT048 PSPA
Pituitary Apoplexy PTT004
Pituitary Carcinoma PTT008
Pituitary Deficiency Due to Empty Sella Turcica Syndrome PTT038
Pituitary Deficiency Due to Rathke Cleft Cysts PTT069
Pituitary Dermoid and Epidermoid Cysts PTT039
Pituitary Dwarfism with Large Sella Turcica PTT019
Pituitary Gland Disease PTT009
Pituitary Hormone Deficiency of Meningeal Origin PTT066
Pituitary Hormone Deficiency of Tumoral Origin PTT067
Pituitary Hormone Deficiency of Vascular Origin PTT068
Pituitary Hormone Deficiency Secondary to a Granulomatous Disease PTT065
Pituitary Hormone Deficiency Secondary to Storage Disease PTT064
Pituitary Hormone Deficiency, Combined, 1 PTT045 CPHD1
Pituitary Hormone Deficiency, Combined, 2 PTT046 CPHD2
Pituitary Hormone Deficiency, Combined, 3 PTT047 CPHD3
Pituitary Hormone Deficiency, Combined, 4 PTT044 CPHD4
Pituitary Hormone Deficiency, Combined, 6 PTT043 CPHD6
Pituitary Hypoplasia PTT001
Pituitary Infarct PTT010
Pituitary Stalk Interruption Syndrome PTT041 PSIS
Pituitary Stalk Meningioma PTT005
Pituitary Tumors PTT037
Pituitary-Dependent Cushing's Disease PTT003
Pityriasis Lichenoides PTY004
Pityriasis Lichenoides Chronica PTY005
Pityriasis Lichenoides Et Varioliformis Acuta PTY006 PLEVA
Pityriasis Rosea PTY001
Pityriasis Rotunda PTY007
Pityriasis Rubra Pilaris PTY003 PRP
Pityriasis Versicolor PTY002
Piussan Lenaerts Mathieu Syndrome PSS002
Placenta Accreta PLC001
Placenta Disease PLC008
Placenta Praevia PLC009
Placental Abruption PLC007
Placental Choriocarcinoma PLC006
Placental Insufficiency PLC005
Placental Site Trophoblastic Tumor PLC003 PSST
Plagiocephaly PLG004
Plague PLG002
Plantar Fascial Fibromatosis PLN003
Plantar Fasciitis PLN007
Plantar Nerve Lesion PLN002
Plantar Verrucous Skin Carcinoma PLN004
Plantar Wart PLN001
Plaque-Form Urticaria Pigmentosa PLQ001
Plasma Cell Leukemia PLS016 PCL
Plasma Cell Neoplasm PLS009
Plasma Cell Tumor PLS037
Plasma Clot Retraction Factor, Deficiency of PLS033
Plasma Fibronectin Deficiency PLS026
Plasma Protein Metabolism Disease PLS010
Plasma Triglyceride Level Quantitative Trait Locus PLS035 TGQTL
Plasmablastic Lymphoma PLS025 PBL
Plasmacytoid Variant Infiltrating Bladder Urothelial Carcinoma PLS004
Plasmacytoma PLS011
Plasminogen Activator Inhibitor-1 Deficiency PLS029 PAI-1D
Plasminogen Deficiency, Type I PLS030 PLGD
Plasmodium Falciparum Blood Infection Level PLS032 PFBI
Plasmodium Falciparum Fever Episodes Quantitative Trait Locus 1 PLS034 PFFE1
Plasmodium Falciparum Malaria PLS007
Plasmodium Malariae Malaria PLS008
Plasmodium Ovale Malaria PLS005
Plasmodium Vivax Malaria PLS006
Plastic Bronchitis PLS031
Platelet Adenylate Cyclase Activity PLT016
Platelet Aggregation, Spontaneous PLT015
Platelet Disorder, Familial, with Associated Myeloid Malignancy PLT019 FPDMM
Platelet Disorder, Undefined PLT027
Platelet Factor 3 Deficiency PLT028
Platelet Glycoprotein Iv Deficiency PLT004 PG4D
Platelet Groups--Ko System PLT029 HPA-2
Platelet Groups--Pl System PLT030
Platelet Membrane Fluidity PLT031 PMF
Platelet Prostacyclin Receptor Defect PLT034
Platelet Responsiveness to Adrenaline, Depressed PLT032
Platelet Signal Processing Defect PLT033
Platelet-Activating Factor Acetylhydrolase Deficiency PLT006 PAFAD
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type PLT026 PLSDT
Pleoconial Myopathy with Salt Craving PLC012
Pleomorphic Adenoma PLM014
Pleomorphic Adenoma Carcinoma PLM009
Pleomorphic Carcinoma PLM016
Pleomorphic Lipoma PLM005
Pleomorphic Liposarcoma PLM019 PLS
Pleomorphic Rhabdomyosarcoma PLM030
Pleomorphic Xanthoastrocytoma PLM020 PXA
Plethora of Newborn PLT001
Pleural Cancer PLR006
Pleural Disease PLR022
Pleural Empyema PLR007
Pleural Lipoma PLR002
Pleural Tuberculosis PLR001
Pleurisy PLR008
Pleuroparenchymal Fibroelastosis PLR025 IPPFE
Pleuro-Pericardial Cyst PLR014
Pleuropneumonia PLR005
Pleuropulmonary Blastoma PLR004 PPB
Pleuropulmonary Blastoma Type 1 PLR018
Pleuropulmonary Blastoma Type 2 PLR019
Pleuropulmonary Blastoma Type 3 PLR020
Plexiform Neurofibroma PLX002
Plexiform Schwannoma PLX001
Plexopathy PLX004
Plexosarcoma PLX003
Plg-Related Hereditary Angioedema with Normal C1inh PLG011
Plica Syndrome PLC002
Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome PLD003 KEDS
Plp1 Disorders PLP007
Plum Allergy PLM144
Plummer Vinson Syndrome PLM049
Plummer's Disease PLM011
Pneumatosis Cystoides Intestinalis PNM003
Pneumococcal Meningitis PNM013
Pneumoconiosis PNM006
Pneumoconiosis Due to Talc PNM004
Pneumocystosis PNM001 PCP
Pneumonia PNM007
Pneumonia Caused by Pseudomonas Aeruginosa Infection PNM022
Pneumonic Plague PNM005
Pneumonic Tularemia PNM002
Pneumothorax PNM008
Pneumothorax, Primary Spontaneous PNM010 PSP
Pnpla6-Related Disorders PNP004
Podder-Tolmie Syndrome PDD001
Podoconiosis PDC001 PDCOS
Poems Syndrome PMS001
Poikiloderma with Neutropenia PKL001 PN
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis PKL002 POIKTMP
Poikiloderma, Hereditary Sclerosing PKL003
Pointer Syndrome PNT008
Poirier-Bienvenu Neurodevelopmental Syndrome PRR044 POBINDS
Poland Syndrome PLN006
Polg-Related Disorders PLG003
Poliomyelitis PLM031 POLIO
Pollen Allergy PLL012
Polr3-Related Leukodystrophy PLR023 LO
Polyarteritis Nodosa PLY017 PAN
Polyarticular Juvenile Idiopathic Arthritis PLY187
Polyarticular Onset Juvenile Idiopathic Arthritis PLY065
Polyclonal Hypergammaglobulinemia PLY010
Polyclonal Hyperviscosity Syndrome PLY128
Polycystic Bone Disease PLY028 PCBD
Polycystic Echinococcosis PLY003
Polycystic Kidney Disease PLY014 PKD
Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease PLY168 PKD1
Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease PLY172 PKD2
Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease PLY171 PKD3
Polycystic Kidney Disease 4 PLY176
Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease PLY170 PKD4
Polycystic Kidney Disease 5 PLY141 PKD5
Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease PLY177 PKD6
Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis PLY116 PKDTS
Polycystic Kidney, Cataract, and Congenital Blindness PLY155
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 PLY180 PLOSL1
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 PLY181 PLOSL2
Polycystic Liver Disease PLY023 PCLD
Polycystic Liver Disease 1 with or Without Kidney Cysts PLY169 PCLD1
Polycystic Liver Disease 2 with or Without Kidney Cysts PLY173 PCLD2
Polycystic Liver Disease 3 with or Without Kidney Cysts PLY174 PCLD3
Polycystic Liver Disease 4 with or Without Kidney Cysts PLY175 PCLD4
Polycystic Ovary Syndrome PLY011 PCO
Polycystic Ovary Syndrome 1 PLY105 PCOS1
Polycythemia PLY018
Polycythemia Due to Hypoxia PLY005
Polycythemia Vera PLY001 PV
Polydactyly PLY006
Polydactyly Syndrome Middle Ray Duplication PLY035
Polydactyly, Postaxial, Type A1 PLY147 PAPA1
Polydactyly, Postaxial, Type A10 PLY184 PAPA10
Polydactyly, Postaxial, Type A2 PLY163 PAPA2
Polydactyly, Postaxial, Type A3 PLY053 PAPA3
Polydactyly, Postaxial, Type A4 PLY054 PAPA4
Polydactyly, Postaxial, Type A5 PLY103 PAPA5
Polydactyly, Postaxial, Type A6 PLY101 PAPA6
Polydactyly, Postaxial, Type A7 PLY144 PAPA7
Polydactyly, Postaxial, Type A8 PLY178 PAPA8
Polydactyly, Postaxial, Type A9 PLY182 PAPA9
Polydactyly, Postaxial, with Dental and Vertebral Anomalies PLY134
Polydactyly, Postaxial, with Progressive Myopia PLY135 PMS
Polydactyly, Preaxial I PLY136 PPD1
Polydactyly, Preaxial Ii PLY148 PPD2
Polydactyly, Preaxial Iii PLY137 PPD3
Polydactyly, Preaxial Iv PLY149 PPD4
Polyembryoma PLY036
Polyembryoma of the Ovary PLY009
Polyendocrine-Polyneuropathy Syndrome PLY115 PEPNS
Polyendocrinopathy PLY188
Polyglucosan Body Myopathy 1 with or Without Immunodeficiency PLY118 PGBM1
Polyglucosan Body Myopathy 2 PLY114 PGBM2
Polyglucosan Body Neuropathy, Adult Form PLY158 APBN
Polyhydramnios PLY012
Polyhydramnios, Chronic Idiopathic PLY160
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy PLY062 PMSE
Polykaryocytosis Inducer PLY150 FUSE
Polymalformative Genetic Syndrome with Increased Risk of Developing Cancer PLY185
Polymerase Proofreading-Related Adenomatous Polyposis PLY138 PPAP
Polymicrogyria PLY024 PMG
Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome PLY183 PMGEDSV
Polymicrogyria, Bilateral Frontoparietal PLY117 BFPP
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive PLY167 BPPR
Polymicrogyria, Bilateral Perisylvian, X-Linked PLY161 BPPX
Polymicrogyria, Bilateral Temporooccipital PLY110 BTOP
Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis PLY126 PMGYCHA
Polymorphic Reticulosis PLY039 PR
Polymorphous Low-Grade Adenocarcinoma PLY040
Polymyoclonus, Infantile PLY157
Polymyositis PLY041
Polyneuropathy PLY019
Polyneuropathy Associated with Igm Monoclonal Gammapathy with Anti-Mag PLY113
Polyneuropathy Due to Drug PLY008
Polyneuropathy in Collagen Vascular Disease PLY002
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract PLY052 PHARC
Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive PLY164
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome PLY127
Polyomavirus Allograft Nephropathy PLY043 BKVN
Polyomavirus-Associated Nephropathy PLY179 PVAN
Polyosteolysis-Hyperostosis Syndrome PLY165
Polyp of Corpus Uteri PLY004
Polyp of Middle Ear PLY016
Polyploidy PLY100
Polyposis Syndrome, Hereditary Mixed, 1 PLY162 HMPS1
Polyposis Syndrome, Hereditary Mixed, 2 PLY066 HMPS2
Polyposis, Intestinal, Scattered and Discrete PLY151
Polyposis, Intestinal, with Multiple Exostoses PLY152
Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes PLY131
Polyradiculoneuropathy PLY020
Polyradiculoneuropathy Associated with Igg/iga/igm Monoclonal Gammopathy Without Known Antibodies PLY087
Polyradiculopathy PLY021
Polyrrhinia PLY086
Polysaccharide, Storage of Unusual PLY159
Polysomy of X Chromosome PLY186
Polysubstance Abuse PLY068 PSAB
Polysyndactyly with Cardiac Malformation PLY133
Polysyndactyly, Crossed PLY132
Polyunsaturated Fatty Acids Plasma Level Quantitative Trait Locus 1 PLY166 PUFAQTL1
Polyvalvular Heart Disease Syndrome PLY088
Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor PLY007
Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor PLY015
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 PMG002
Pompholyx PMP010
Poncet-Spiegler's Cylindroma PNC057
Pontiac Fever PNT001
Pontine Hemorrhage PNT023
Pontine Tegmental Cap Dysplasia PNT009 PTCD
Pontocerebellar Hypoplasia PNT019 PCH
Pontocerebellar Hypoplasia Type 1 PNT010 PCH1
Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal PNT054 PHRINL
Pontocerebellar Hypoplasia, Type 10 PNT033 PCH10
Pontocerebellar Hypoplasia, Type 11 PNT050 PCH11
Pontocerebellar Hypoplasia, Type 12 PNT052 PCH12
Pontocerebellar Hypoplasia, Type 13 PNT053 PCH13
Pontocerebellar Hypoplasia, Type 1a PNT045 PCH1A
Pontocerebellar Hypoplasia, Type 1b PNT018 PCH1B
Pontocerebellar Hypoplasia, Type 1c PNT035 PCH1C
Pontocerebellar Hypoplasia, Type 1d PNT051 PCH1D
Pontocerebellar Hypoplasia, Type 2a PNT044 PCH2A
Pontocerebellar Hypoplasia, Type 2b PNT047 PCH2B
Pontocerebellar Hypoplasia, Type 2c PNT048 PCH2C
Pontocerebellar Hypoplasia, Type 2d PNT049 PCH2D
Pontocerebellar Hypoplasia, Type 2e PNT034 PCH2E
Pontocerebellar Hypoplasia, Type 2f PNT042 PCH2F
Pontocerebellar Hypoplasia, Type 3 PNT037 PCH3
Pontocerebellar Hypoplasia, Type 4 PNT043 PCH4
Pontocerebellar Hypoplasia, Type 5 PNT046 PCH5
Pontocerebellar Hypoplasia, Type 6 PNT036 PCH6
Pontocerebellar Hypoplasia, Type 7 PNT039 PCH7
Pontocerebellar Hypoplasia, Type 8 PNT030 PCH8
Pontocerebellar Hypoplasia, Type 9 PNT032 PCH9
Poorly Differentiated Thymic Neuroendocrine Carcinoma PRL043
Popliteal Cyst PPL054
Popliteal Pterygium Syndrome PPL025 PPS
Porencephaly PRN026
Porencephaly, Cerebellar Hypoplasia, and Internal Malformations PRN057
Poretti-Boltshauser Syndrome PRT101 PTBHS
Porokeratosis PRK001 DSAP
Porokeratosis 1, Multiple Types PRK082 POROK1
Porokeratosis 2, Palmar, Plantar, and Disseminated Type PRK076 POROK2
Porokeratosis 3, Multiple Types PRK080 POROK3
Porokeratosis 4, Disseminated Superficial Actinic Type PRK095 POROK4
Porokeratosis 5, Disseminated Superficial Actinic Type PRK097 POROK5
Porokeratosis 6, Multiple Types PRK084 POROK6
Porokeratosis 7, Multiple Types PRK075 POROK7
Porokeratosis 8, Disseminated Superficial Actinic Type PRK067 POROK8
Porokeratosis 9, Multiple Types PRK074 POROK9
Porokeratotic Eccrine Ostial and Dermal Duct Nevus PRK047
Porphyria PRP029
Porphyria Cutanea Tarda PRP003 FPCT
Porphyria Cutanea Tarda, Type I PRP091
Porphyria, Acute Hepatic PRP056 AHEPP
Porphyria, Acute Intermittent PRP083 AIP
Porphyria, Congenital Erythropoietic PRP082 CEP
Portal Hypertension PRT013
Portal Hypertension, Noncirrhotic PRT112 NCPH
Portal Vein Thrombosis PRT018
Portal Vein, Cavernous Transformation of PRT124
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome PRT138
Positive Rheumatoid Factor Polyarthritis PST038
Postauricular Lymphadenitis PST006
Postaxial Acrofacial Dysostosis PST049 POADS
Postaxial Oligodactyly, Tetramelic PST104
Post-Cardiac Arrest Syndrome PST106
Postcardiotomy Right Ventricular Failure PST076
Postcholecystectomy Syndrome PST030
Postcricoid Region Cancer PST031
Postencephalitic Parkinson Disease PST027
Posterior Cerebral Artery Infarction PST018
Posterior Column Ataxia PST040
Posterior Column Ataxia with Retinitis Pigmentosa PST036 AXPC1
Posterior Corneal Dystrophy PST110
Posterior Corneal Pigmentation PST012
Posterior Cortical Atrophy PST086 PCA
Posterior Dislocation of Lens PST025
Posterior Foramen Magnum Meningioma PST023
Posterior Fossa Malformation PST111
Posterior Hypospadias PST093
Posterior Mediastinum Cancer PST013
Posterior Meningocele PST077
Posterior Myocardial Infarction PST001
Posterior Pituitary Gland Neoplasm PST034
Posterior Polar Cataract PST016
Posterior Scleritis PST008
Posterior Urethra Cancer PST032
Posterior Urethral Valves PST041
Posterior Uveal Melanoma PST022
Posterior Uveitis PST005
Posteroinferior Myocardial Infarction PST002
Posterolateral Myocardial Infarction PST017
Postgastrectomy Syndrome PST035
Postgerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma PST004
Postherpetic Neuralgia PST053
Postinfectious Autoimmune Disease with Chorea PST108
Postinfectious Encephalitis PST109
Postinfectious Encephalomyelitis PST054
Postinfectious Vasculitis PST098
Postinflammatory Pulmonary Fibrosis PST015
Postmenopausal Atrophic Vaginitis PST029
Postorgasmic Illness Syndrome PST044 POIS
Postpartum Depression PST021
Postpartum Psychosis PST103
Postpoliomyelitis Syndrome PST020
Post-Surgical Hypoinsulinemia PST024
Postsurgical Hypothyroidism PST014
Postsynaptic Congenital Myasthenic Syndromes PST063
Post-Thrombotic Syndrome PST095
Posttransplant Acute Limbic Encephalitis PST092 PALE
Post-Transplant Lymphoproliferative Disease PST046 PTLD
Post-Traumatic Epilepsy PST047
Post-Traumatic Pituitary Deficiency PST112
Post-Traumatic Stress Disorder PST028 PTSD
Postural Orthostatic Tachycardia Syndrome PST048 POTS
Post-Vaccinal Encephalitis PST007
Pot1 Tumor Predisposition PT1002
Potassium Dichromate Allergic Contact Dermatitis PTS020
Potocki-Lupski Syndrome PTC002 PTLS
Potocki-Shaffer Syndrome PTC001 POSHS
Potter's Syndrome PTT002
Pouchitis PCH007
Powassan Encephalitis PWS001
Ppoma PPM002 PPOMA
Ppp2r5d-Related Intellectual Disability PPP001
Ppp2r5d-Related Neurodevelopmental Disorder PPP002
Pr Interval, Variation in PRN062
Prader-Willi Habitus, Osteopenia, and Camptodactyly PRD014
Prader-Willi Syndrome PRD006 PWS
Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion PRD027
Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 PRD022
Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 PRD023
Preauricular Fistulae, Congenital PRR015 PAFC
Preauricular Sinus PRR018
Preauricular Tag, Isolated, Autosomal Dominant, 1 PRR023
Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias PRX093 GUTTS
Preaxial Hallucal Polydactyly PRX085
Preaxial Polydactyly of Fingers PRX078
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome PRX083
Precocious Puberty PRC019
Precocious Puberty in Female PRC053
Precocious Puberty, Central, 1 PRC047 CPPB1
Precocious Puberty, Central, 2 PRC046 CPPB2
Precocious Puberty, Gonadotropin-Dependent PRC025
Precocious Puberty, Male-Limited PRC038 FMPP
Precursor T-Cell Acute Lymphoblastic Leukemia PRC049 T-ALL
Pre-Descemet Corneal Dystrophy PRD026 PDCD
Prediabetes Syndrome PRD004 IGT
Predisposition to Severe Viral Infection Due to Irf7 Deficiency PRD047
Predominantly Cortical Thymoma PRD001
Predominantly Large-Vessel Vasculitis PRD045
Predominantly Medium-Vessel Vasculitis PRD044
Predominantly Small-Vessel Vasculitis PRD043
Pre-Eclampsia PRC016
Preeclampsia/eclampsia 1 PRC031 PEE1
Preeclampsia/eclampsia 2 PRC032 PEE2
Preeclampsia/eclampsia 3 PRC033 PEE3
Preeclampsia/eclampsia 4 PRC034 PEE4
Preeclampsia/eclampsia 5 PRC045 PEE5
Pregerminal Center Chronic Lymphocytic Leukemia/small Lymphocytic Lymphoma PRG005
Pregnancy Adenoma PRG010
Pregnancy Loss, Recurrent 1 PRG092 RPRGL1
Pregnancy Loss, Recurrent 2 PRG096 RPRGL2
Pregnancy Loss, Recurrent 3 PRG093 RPRGL3
Preimplantation Embryonic Lethality 1 PRM252 PREMBL1
Preimplantation Embryonic Lethality 2 PRM251 PREMBL2
Prekallikrein Deficiency PRK005 PKK DEFICIENCY
Prekallikrein Deficiency, Congenital PRK014
Pre-Malignant Neoplasm PRM023
Premature Aging PRM329
Premature Aging Syndrome, Okamoto Type PRM291
Premature Aging Syndrome, Penttinen Type PRM206 PENTT
Premature Centromere Division PRM290 PCD
Premature Chromatid Separation Trait PRM087 PCS
Premature Closure of the Arterial Duct PRM160
Premature Ejaculation PRM003
Premature Menopause PRM013
Premature Ovarian Failure 1 PRM196 POF1
Premature Ovarian Failure 10 PRM207 POF10
Premature Ovarian Failure 11 PRM254 POF11
Premature Ovarian Failure 12 PRM255 POF12
Premature Ovarian Failure 13 PRM253 POF13
Premature Ovarian Failure 14 PRM292 POF14
Premature Ovarian Failure 15 PRM295 POF15
Premature Ovarian Failure 16 PRM344 POF16
Premature Ovarian Failure 17 PRM348 POF17
Premature Ovarian Failure 18 PRM349 POF18
Premature Ovarian Failure 2a PRM176 POF2A
Premature Ovarian Failure 2b PRM091 POF2B
Premature Ovarian Failure 3 PRM089 POF3
Premature Ovarian Failure 5 PRM094 POF5
Premature Ovarian Failure 6 PRM090 POF6
Premature Ovarian Failure 7 PRM093 POF7
Premature Ovarian Failure 8 PRM192 POF8
Premature Ovarian Failure 9 PRM191 POF9
Premenstrual Tension PRM020
Prenatal Benign Hypophosphatasia PRN048
Prenatal Bowing PRN066
Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures PRN061 SMABF
Prepapillary Vascular Loops PRP097
Prepubertal Anorexia Nervosa PRP104
Prepuce Cancer PRP010
Preretinal Fibrosis PRR004
Presbyopia PRS025
Presenile Dementia, Kraepelin Type PRS056
Presynaptic Congenital Myasthenic Syndromes PRS124
Preterm Premature Rupture of the Membranes PRT082 PPROM
Priapism PRP007
Priapism, Familial Idiopathic PRP095
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia PRC020
Prieto X-Linked Mental Retardation Syndrome PRT055 PRS
Primary Adrenal Insufficiency PRM340
Primary Adult Heart Tumor PRM287
Primary Agammaglobulinemia PRM038
Primary Aldosteronism, Seizures, and Neurologic Abnormalities PRM183 PASNA
Primary Amebic Meningoencephalitis PRM004 PAM
Primary Anetoderma PRM145
Primary Angiitis of the Central Nervous System PRM039 PACNS
Primary Angle-Closure Glaucoma PRM024
Primary Autoimmune Enteropathy PRM296
Primary Autosomal Recessive Microcephaly PRM031 MCPH
Primary Avascular Necrosis PRM325
Primary Bacterial Infectious Disease PRM025
Primary Biliary Cholangitis PRM236 PBC
Primary Biliary Cholangitis/primary Sclerosing Cholangitis and Autoimmune Hepatitis Overlap Syndrome PRM341
Primary Bone Cancer PRM243
Primary Bone Dysplasia PRM319
Primary Bone Dysplasia with Decreased Bone Density PRM333
Primary Bone Dysplasia with Defective Bone Mineralization PRM332
Primary Bone Dysplasia with Disorganized Development of Skeletal Components PRM336
Primary Bone Dysplasia with Increased Bone Density PRM334
Primary Bone Dysplasia with Micromelia PRM320
Primary Bone Dysplasia with Multiple Joint Dislocations PRM335
Primary Bone Dysplasia with Progressive Ossification of Skin, Skeletal Muscle, Fascia, Tendons and Ligaments PRM321
Primary Bone Lymphoma PRM151
Primary Central Nervous System Lymphoma PRM226 PCNSL
Primary Cerebellar Degeneration PRM015
Primary Ciliary Dyskinesia PRM011 ICS
Primary Condylar Hyperplasia PRM249
Primary Congenital Glaucoma PRM032
Primary Congenital Hypothyroidism PRM316
Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly PRM330
Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma PRM131
Primary Cutaneous Amyloidosis PRM001 PCA
Primary Cutaneous Anaplastic Large Cell Lymphoma PRM155
Primary Cutaneous B-Cell Lymphoma PRM299
Primary Cutaneous Cd30+ T-Cell Lymphoproliferative Disease PRM144
Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma PRM132
Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type PRM127
Primary Cutaneous Follicle Center Lymphoma PRM128 PCFCL
Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma PRM130
Primary Cutaneous Lymphoma PRM314
Primary Cutaneous Marginal Zone B-Cell Lymphoma PRM129 PCMZL
Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified PRM250
Primary Cutaneous Plasmacytosis PRM233
Primary Cutaneous T-Cell Lymphoma PRM301
Primary Cutis Verticis Gyrata PRM188
Primary Desmosis Coli PRM343
Primary Early-Onset Glaucoma PRM303
Primary Eosinophilic Gastrointestinal Disease PRM324 EGID
Primary Essential Cutis Verticis Gyrata PRM185
Primary Eye Hypotony PRM009
Primary Germ Cell Tumor of Central Nervous System PRM305
Primary Hemophagocytic Lymphohistiocytosis PRM304
Primary Hepatic Neuroendocrine Carcinoma PRM205
Primary Hypereosinophilic Syndrome PRM149 HES-M
Primary Hyperoxaluria PRM002
Primary Hyperparathyroidism PRM005
Primary Hypertrophic Osteoarthropathy PRM018 PDP
Primary Hypomagnesemia PRM237 HOMG
Primary Hypomagnesemia with Refractory Seizures and Intellectual Disability PRM345
Primary Hypophysitis PRM331
Primary Immunodeficiency Due to a Defect in Adaptive Immunity PRM300
Primary Immunodeficiency Due to a Defect in Innate Immunity PRM338
Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection PRM247
Primary Immunodeficiency with Predisposition to Severe Viral Infection PRM326
Primary Interstitial Lung Disease in Childhood and Adulthood PRM308
Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Structure Disorder PRM309
Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Vascular Disorder PRM310
Primary Interstitial Lung Disease Specific to Adulthood PRM307
Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Structure Disorder PRM311
Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Vascular Disorder PRM312
Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies PRM166
Primary Intestinal Lymphangiectasia PRM158
Primary Intrahepatic Lithiasis PRM248 PIHL
Primary Intralymphatic Angioendothelioma PRM238
Primary Lacrimal Atrophy PRM007
Primary Laryngeal Lymphangioma PRM134
Primary Lateral Sclerosis, Adult, 1 PRM092 PLSA1
Primary Lateral Sclerosis, Juvenile PRM195 PLSJ
Primary Lipodystrophy PRM210
Primary Localized Amyloidosis PRM150
Primary Localized Cutaneous Nodular Amyloidosis PRM367 NLCA
Primary Lymphedema PRM327
Primary Lymphedema with Systemic or Visceral Involvement PRM347
Primary Lymphedema Without Systemic or Visceral Involvement PRM346
Primary Lymphoma of the Conjunctiva PRM148
Primary Malignant Melanoma of the Cervix PRM047
Primary Malignant Melanoma of the Conjunctiva PRM048
Primary Malignant Peritoneal Tumor PRM297
Primary Mediastinal B-Cell Lymphoma PRM293
Primary Mediastinal Large B-Cell Lymphoma PRM163
Primary Megaureter, Adult-Onset Form PRM147
Primary Melanocytic Tumor of Central Nervous System PRM306
Primary Melanoma of the Central Nervous System PRM139
Primary Microcephaly PRM212
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome PRM187
Primary Myoclonus PRM322
Primary Non-Gestational Choriocarcinoma of Ovary PRM193 NGCO
Primary Oculocerebral Lymphoma PRM142
Primary Optic Atrophy PRM016
Primary Organ-Specific Lymphoma PRM313
Primary Orthostatic Disorder PRM328
Primary Orthostatic Hypotension PRM227
Primary Orthostatic Tremor PRM050 OT
Primary Osteolysis PRM337
Primary Ovarian Insufficiency 10 PRM359
Primary Ovarian Insufficiency 11 PRM360
Primary Ovarian Insufficiency 12 PRM361
Primary Ovarian Insufficiency 13 PRM362
Primary Ovarian Insufficiency 14 PRM363
Primary Ovarian Insufficiency 15 PRM364
Primary Ovarian Insufficiency 16 PRM365
Primary Ovarian Insufficiency 17 PRM366
Primary Ovarian Insufficiency 2a PRM350
Primary Ovarian Insufficiency 2b PRM351
Primary Ovarian Insufficiency 3 PRM352
Primary Ovarian Insufficiency 4 PRM353
Primary Ovarian Insufficiency 5 PRM354
Primary Ovarian Insufficiency 6 PRM355
Primary Ovarian Insufficiency 7 PRM356
Primary Ovarian Insufficiency 8 PRM357
Primary Ovarian Insufficiency 9 PRM358
Primary Pediatric Heart Tumor PRM286
Primary Peritoneal Carcinoma PRM126 PPC
Primary Peritoneal Serous/papillary Carcinoma PRM194 PPSPC
Primary Peritoneal Tumor PRM298
Primary Pigmented Nodular Adrenocortical Disease PRM051 PPNAD
Primary Plasmacytoma of the Bone PRM165
Primary Polyarteritis Nodosa PRM222
Primary Polycythemia PRM012
Primary Progressive Apraxia of Speech PRM153 PPAOS
Primary Progressive Freezing Gait PRM157 PPFG
Primary Progressive Multiple Sclerosis PRM108 PPMS
Primary Pulmonary Lymphoma PRM133
Primary Qualitative or Quantitative Defects of Alpha-Dystroglycan PRM317
Primary Release Disorder of Platelets PRM053
Primary Renal Tubular Acidosis PRM152
Primary Short Bowel Syndrome PRM318
Primary Syphilis PRM022
Primary Syringomyelia PRM168
Primary Systemic Mycosis PRM026
Primary Tethered Cord Syndrome PRM246
Primary Thrombocytopenia PRM225
Primary Trimethylaminuria PRM209 TMAU
Primary Tubular Proximal Acidosis PRM055
Primary Unilateral Adrenal Hyperplasia PRM146 PUAH
Primitive Neuroectodermal Tumor of the Cervix Uteri PRM284
Primitive Neuroectodermal Tumor of the Corpus Uteri PRM283
Primitive Portal Vein Thrombosis PRM285
Primrose Syndrome PRM056 PRIMS
Prion Disease PRN023 TSE
Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments PRK068
Proboscis Lateralis PRB002
Proctitis PRC003
Progeroid Facial Appearance with Hand Anomalies PRG132
Progeroid Short Stature with Pigmented Nevi PRG023
Progeroid Syndrome PRG139
Progeroid Syndrome Petty Type PRG024
Progesterone Resistance PRG014
Progesterone-Receptor Negative Breast Cancer PRG003
Progesterone-Receptor Positive Breast Cancer PRG002
Progestogen Hypersensitivity PRG149 APD
Prognathism, Mandibular PRG122
Progressive Bulbar Palsy PRG007
Progressive Cavitating Leukoencephalopathy PRG076
Progressive Dementia with Neuroserpin Inclusion Bodies PRG135
Progressive Encephalomyelitis with Rigidity and Myoclonus PRG110 PERM
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 PRG130 PEOA1
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 PRG038 PEOA2
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 PRG039 PEOA3
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 PRG040 PEOA4
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 PRG041 PEOA5
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 PRG103 PEOA6
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 PRG131 PEOB1
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 PRG102 PEOB2
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 PRG129 PEOB3
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 PRG128 PEOB4
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 PRG134 PEOB5
Progressive Familial Heart Block PRG126 HBBD
Progressive Familial Heart Block, Type Ia PRG042 PFHB1A
Progressive Familial Heart Block, Type Ib PRG043 PFHB1B
Progressive Familial Heart Block, Type Ii PRG101 PFHB2
Progressive Familial Intrahepatic Cholestasis PRG047 PFIC
Progressive Kinking of the Hair, Acquired PRG032
Progressive Locomotor Ataxia PRG048
Progressive Multifocal Leukoencephalopathy PRG009 PML
Progressive Muscular Atrophy PRG001 PMA
Progressive Muscular Dystrophy PRG106
Progressive Myoclonic Epilepsy with Neuroserpin Inclusion Bodies PRG136
Progressive Myoclonus Epilepsy PRG011 PME
Progressive Myoclonus Epilepsy 10 PRG141 EPM10
Progressive Myoclonus Epilepsy 1a PRG148
Progressive Myoclonus Epilepsy 1b PRG144
Progressive Myoclonus Epilepsy 3 PRG142 EPM3
Progressive Myoclonus Epilepsy 4 PRG140 AMRF
Progressive Myoclonus Epilepsy 6 PRG145 EPM6
Progressive Myoclonus Epilepsy 7 PRG143 EPM7
Progressive Myoclonus Epilepsy 8 PRG147 EMP8
Progressive Myoclonus Epilepsy 9 PRG146 EMP9
Progressive Myoclonus Epilepsy, Lafora Type PRG074
Progressive Nodular Histiocytosis PRG077
Progressive Non-Fluent Aphasia PRG033
Progressive Non-Infectious Anterior Vertebral Fusion PRG080
Progressive Peripheral Pterygium PRG012
Progressive Pseudorheumatoid Dysplasia PRG071 PPRD
Progressive Relapsing Multiple Sclerosis PRG090 PRMS
Progressive Supranuclear Palsy-Corticobasal Syndrome PRG116
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome PRG115
Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome PRG117
Progressive Transformation of Germinal Centers PRG036 PTGC
Prolactin Deficiency with Obesity and Enlarged Testes PRL046
Prolactin Deficiency, Isolated PRL037
Prolactin Producing Pituitary Tumor PRL010
Prolapse of Female Genital Organ PRL015
Prolapse of Lacrimal Gland PRL002
Prolapse of Urethra PRL004
Prolidase Deficiency PRL019 PD
Proliferating Trichilemmal Cyst PRL042
Proliferative Fasciitis PRL005
Proliferative Glomerulonephritis PRL003
Proliferative Type Fibrocystic Change of Breast PRL016
Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome PRL023 PVHH
Proliferative Verrucous Leukoplakia PRL048
Proline-Negative Auxotroph of Hamster, Complementation of PRL045 PROA
Prolonged Electroretinal Response Suppression PRL047 PERRS
Prolymphocytic Leukemia PRL017
Pronation-Supination of the Forearm, Impairment of PRN064
Prop1-Related Combined Pituitary Hormone Deficiency PRP035
Properdin Deficiency PRP033
Properdin Deficiency, X-Linked PRP038 CFPD
Propionic Acidemia PRP001 PA-1
Propriospinal Myoclonus PRP068
Proprotein Convertase 1/3 Deficiency PRP098 PC1 DEFICIENCY
Propylthiouracil Embryofetopathy PRP094
Prosopagnosia PRS013
Prosopagnosia, Hereditary PRS058
Prostaglandin-Endoperoxide Synthase Deficiency PRS059
Prostate Adenoid Cystic Carcinoma PRS019
Prostate Angiosarcoma PRS005
Prostate Calculus PRS007
Prostate Cancer PRS040 PC
Prostate Cancer Aggressiveness Quantitative Trait Locus on Chromosome 19 PRS133
Prostate Cancer, Hereditary, 1 PRS097 HPC1
Prostate Cancer, Hereditary, 10 PRS074 HPC10
Prostate Cancer, Hereditary, 11 PRS117 HPC11
Prostate Cancer, Hereditary, 12 PRS070 HPC12
Prostate Cancer, Hereditary, 13 PRS071 HPC13
Prostate Cancer, Hereditary, 14 PRS075 HPC14
Prostate Cancer, Hereditary, 15 PRS076 HPC15
Prostate Cancer, Hereditary, 2 PRS114 HPC2
Prostate Cancer, Hereditary, 3 PRS134 HPC3
Prostate Cancer, Hereditary, 4 PRS135 HPC4
Prostate Cancer, Hereditary, 5 PRS079 HPC5
Prostate Cancer, Hereditary, 6 PRS136 HPC6
Prostate Cancer, Hereditary, 7 PRS080 HPC7
Prostate Cancer, Hereditary, 8 PRS130 HPC8
Prostate Cancer, Hereditary, 9 PRS081 HPC9
Prostate Cancer, Hereditary, X-Linked 1 PRS083 HPCX1
Prostate Cancer, Hereditary, X-Linked 2 PRS084 HPCX2
Prostate Cancer/brain Cancer Susceptibility PRS131 CAPB
Prostate Carcinoma in Situ PRS031
Prostate Colloid Adenocarcinoma PRS001
Prostate Disease PRS042
Prostate Embryonal Rhabdomyosarcoma PRS010
Prostate Leiomyoma PRS022
Prostate Leiomyosarcoma PRS032
Prostate Lymphoma PRS002
Prostate Malignant Phyllodes Tumor PRS003
Prostate Neuroendocrine Neoplasm PRS017
Prostate Rhabdomyosarcoma PRS043
Prostate Sarcoma PRS044
Prostate Signet Ring Cell Adenocarcinoma PRS015
Prostate Small Cell Carcinoma PRS008
Prostate Squamous Cell Carcinoma PRS004
Prostate Stromal Sarcoma PRS009
Prostate Transitional Cell Carcinoma PRS027
Prostatic Acinar Adenocarcinoma PRS006
Prostatic Adenoma PRS021
Prostatic Cyst PRS014
Prostatic Hyperplasia, Benign PRS129 BPH
Prostatic Hypertrophy PRS045
Prostatic Malacoplakia Associated with Prostatic Abscess PRS060
Prostatic Stromal Proliferation of Uncertain Malignant Potential PRS061
Prostatic Urethra Urothelial Carcinoma PRS028
Prostatic Urethral Cancer PRS046
Prostatitis PRS047
Prostatocystitis PRS020
Prosthetic Joint Infection PRS115 PJI
Proteasome-Associated Autoinflammatory Syndrome 1 PRT133 PRAAS1
Proteasome-Associated Autoinflammatory Syndrome 2 PRT136 PRAAS2
Proteasome-Associated Autoinflammatory Syndrome 3 PRT134 PRAAS3
Proteasome-Associated Autoinflammatory Syndrome 4 PRT255 PRAAS4
Proteasome-Associated Autoinflammatory Syndrome 5 PRT254 PRAAS5
Protein C Deficiency PRT011
Protein S Acquired Deficiency PRT104
Protein S Deficiency PRT014
Protein Z Deficiency PRT130
Protein-Deficiency Anemia PRT025
Protein-Energy Malnutrition PRT038 PEM
Protein-Losing Enteropathy PRT019
Proteinuria, Chronic Benign PRT251 PROCHOB
Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis PRT121 LMWPHN
Proteolytic Capacity of Plasma PRT117
Proteus Like Syndrome Mental Retardation Eye Defect PRT057
Proteus Syndrome PRT008 PROTEUSS
Proteus-Like Syndrome PRT063
Prothrombin Deficiency PRT012
Prothrombin Deficiency, Congenital PRT129 FA2D
Prothrombin Thrombophilia PRT114
Protocadherin 3 PRT123 PCDH3
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia PRT107
Protoplasmic Astrocytoma PRT005
Protoporphyria, Erythropoietic, 1 PRT132 EPP1
Protoporphyria, Erythropoietic, 2 PRT135 EPP2
Protoporphyria, Erythropoietic, X-Linked PRT094 XLEPP
Protozoal Dysentery PRT022
Protrusio Acetabuli PRT119
Proximal Chromosome 18q Deletion Syndrome PRX013
Proximal Myopathy with Focal Depletion of Mitochondria PRX095
Proximal Spinal Muscular Atrophy PRX014 SMA
Proximal Symphalangism PRX021
Proximal Symphalangism 1 PRX099
Proximal Symphalangism 2 PRX100
Prp Systemic Amyloidosis PRP089
Prrt2-Associated Paroxysmal Movement Disorders PRR035
Prss1-Related Hereditary Pancreatitis PRS050
Prune Belly Syndrome PRN038 PBS
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness PRN067
Prurigo Nodularis PRR013
Pruritic Urticarial Papules and Plaques of Pregnancy PRR031 PUPPP
Pruritus, Hereditary Localized PRR034
Psammomatous Meningioma PSM001
Pseudo Pelger-Huet Anomaly PSD024
Pseudoachondroplasia PSD012 PSACH
Pseudoachondroplastic Dysplasia 2 PSD025
Pseudoacromegaly with Severe Insulin Resistance PSD116
Pseudoainhum PSD026
Pseudoangiomatous Stromal Hyperplasia PSD079 PASH
Pseudoarthrogryposis PSD109
Pseudoatrophoderma Colli PSD110
Pseudobulbar Affect PSD088 PBA
Pseudobulbar Palsy PSD001
Pseudocholinesterase, Increase in Plasma Level of PSD111
Pseudodiastrophic Dysplasia PSD030 PDD
Pseudofolliculitis Barbae PSD078 PFB
Pseudo-Gaucher Disease PSD023
Pseudoglandular Variant Testicular Seminoma PSD013
Pseudohermaphrodism Anorectal Anomalies PSD031
Pseudohermaphroditism PSD009
Pseudohermaphroditism, Female, with Skeletal Anomalies PSD102
Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak PSD063 PSHK2
Pseudohypoaldosteronism PSD003
Pseudohypoaldosteronism, Type I, Autosomal Dominant PSD112 PHA1A
Pseudohypoaldosteronism, Type I, Autosomal Recessive PSD114 PHA1B
Pseudohypoaldosteronism, Type Iia PSD090 PHA2A
Pseudohypoaldosteronism, Type Iib PSD094 PHA2B
Pseudohypoaldosteronism, Type Iic PSD068 PHA2C
Pseudohypoaldosteronism, Type Iid PSD093 PHA2D
Pseudohypoaldosteronism, Type Iie PSD092 PHA2E
Pseudohypoparathyroidism PSD015
Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy PSD120
Pseudohypoparathyroidism, Type Ia PSD108 PHP1A
Pseudohypoparathyroidism, Type Ib PSD066 PHP1B
Pseudohypoparathyroidism, Type Ic PSD117 PHP1C
Pseudohypoparathyroidism, Type Ii PSD104 PHP2
Pseudo-Meigs Syndrome PSD084
Pseudomembranous Conjunctivitis PSD004
Pseudomonas Stutzeri Infections PSD038
Pseudomonilethrix PSD113
Pseudomyxoma Peritonei PSD007 PMP
Pseudopapilledema PSD008
Pseudopapilledema Blepharophimosis Hand Anomalies PSD042
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies PSD103
Pseudopelade of Brocq PSD043
Pseudopili Annulati PSD118
Pseudopseudohypoparathyroidism PSD014 PPHP
Pseudopterygium PSD006
Pseudoretinitis Pigmentosa PSD005
Pseudosarcomatous Fibromatosis PSD016
Pseudo-Torch Syndrome 1 PSD106 PTORCH1
Pseudo-Torch Syndrome 2 PSD107 PTORCH2
Pseudo-Torch Syndrome 3 PSD121 PTORCH3
Pseudotrisomy 13 Syndrome PSD046
Pseudo-Turner Syndrome PSD047
Pseudotyphus of California PSD085
Pseudounicornuate Uterus PSD091
Pseudouridinuria and Mental Defect PSD115
Pseudovaginal Perineoscrotal Hypospadias PSD021 PPSH
Pseudovascular Skin Squamous Cell Carcinoma PSD011
Pseudo-Von Willebrand Disease PSD048 VWDP
Pseudoxanthoma Elasticum PSD087 PXE
Pseudoxanthoma Elasticum, Forme Fruste PSD050
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency PSD059 PXEL-MCFD
Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis PSD105
Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa PSD101
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis PSD083
Psoriasis PSR002
Psoriasis 1 PSR023 PSORS1
Psoriasis 10 PSR031 PSORS10
Psoriasis 11 PSR032 PSORS11
Psoriasis 12 PSR033 PSORS12
Psoriasis 13 PSR018 PSORS13
Psoriasis 14, Pustular PSR021 PSORS14
Psoriasis 15 PSR034
Psoriasis 15, Pustular PSR022 PSORS15
Psoriasis 2 PSR017 PSORS2
Psoriasis 3 PSR024 PSORS3
Psoriasis 4 PSR025 PSORS4
Psoriasis 5 PSR026 PSORS5
Psoriasis 6 PSR027 PSORS6
Psoriasis 7 PSR028 PSORS7
Psoriasis 8 PSR030 PSORS8
Psoriasis 9 PSR029 PSORS9
Psoriatic Arthritis PSR001 PSORAS
Psoriatic Juvenile Idiopathic Arthritis PSR016
Psychogenic Movement Disorders PSY017
Psychologic Dyspareunia PSY002
Psychologic Vaginismus PSY001
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism PSY014 PMRED
Psychosexual Disorder PSY003
Psychotic Disorder PSY004
Pterygia, Mental Retardation, and Distinctive Craniofacial Features PTR028
Pterygium Colli and Mental Retardation with Facial and Digital Anomalies PTR031
Pterygium Colli Mental Retardation Digital Anomalies PTR009
Pterygium Colli, Isolated PTR033
Pterygium of Conjunctiva and Cornea PTR030
Pterygium, Antecubital PTR029
Pthirus Pubis Infestation PTH001 CRABS
Ptosis PTS002
Ptosis, Hereditary Congenital 1 PTS018 PTOS1
Ptosis, Hereditary Congenital 2 PTS010 PTOS2
Ptosis, Strabismus, and Ectopic Pupils PTS017
Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome PTS015
Pubic Bone Dysplasia PBC001
Pudendal Neuralgia PDN001
Puerperal Pulmonary Embolism PRP011
Puerto Rican Infant Hypotonia Syndrome PRT108
Pulmonary Adenocarcinoma in Situ PLM196
Pulmonary Alveolar Microlithiasis PLM017 PULAM
Pulmonary Alveolar Proteinosis PLM006
Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia PLM179 PAPHG
Pulmonary Alveolar Proteinosis, Acquired PLM150 PAP
Pulmonary Arterial Hypertension Associated with Another Disease PLM188
Pulmonary Arterial Hypertension Associated with Chronic Hemolytic Anemia PLM191
Pulmonary Arterial Hypertension Associated with Congenital Heart Disease PLM184
Pulmonary Arterial Hypertension Associated with Connective Tissue Disease PLM189
Pulmonary Arterial Hypertension Associated with Hiv Infection PLM185
Pulmonary Arterial Hypertension Associated with Portal Hypertension PLM186 POPH
Pulmonary Arterial Hypertension Associated with Schistosomiasis PLM187
Pulmonary Arteriovenous Fistulas PLM151 PAVM
Pulmonary Arteriovenous Malformation PLM052 PAVM
Pulmonary Artery Agenesis PLM053
Pulmonary Artery Choriocarcinoma PLM023
Pulmonary Artery Coming from Patent Ductus Arteriosus PLM119
Pulmonary Artery Coming from the Aorta PLM054
Pulmonary Artery Disease PLM180
Pulmonary Artery Familial Dilatation PLM055
Pulmonary Artery Hypoplasia PLM116 PAH
Pulmonary Artery Leiomyosarcoma PLM004
Pulmonary Artery or Pulmonary Branch Anomaly PLM194
Pulmonary Aspergilloma PLM007
Pulmonary Atresia with Intact Ventricular Septum PLM058
Pulmonary Atresia with Ventricular Septal Defect PLM059
Pulmonary Blastoma PLM032
Pulmonary Bullae Causing Pneumothorax PLM168
Pulmonary Coin Lesion PLM028
Pulmonary Disease, Chronic Obstructive PLM129 COPD
Pulmonary Edema PLM010
Pulmonary Edema of Mountaineers PLM061 HAPH
Pulmonary Embolism PLM033
Pulmonary Embolism and Infarction PLM027
Pulmonary Emphysema PLM034
Pulmonary Eosinophilia PLM035
Pulmonary Fibrosis PLM036
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 PLM139 PFBMFT1
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 PLM175 PFBMFT2
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 PLM143 PFBMFT3
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 PLM141 PFBMFT4
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 PLM195 PFBMFT5
Pulmonary Fibrosis, Familial PLM044
Pulmonary Fibrosis, Idiopathic PLM134 IPF
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome PLM145
Pulmonary Fungal Infections in Patients Deemed at Risk PLM107
Pulmonary Hemosiderosis PLM085
Pulmonary Hyalinizing Granuloma PLM062
Pulmonary Hypertension PLM037
Pulmonary Hypertension Owing to Lung Disease and/or Hypoxia PLM190
Pulmonary Hypertension with Unclear Multifactorial Mechanism PLM192
Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis PLM101 CTEPH
Pulmonary Hypertension, Neonatal PLM124 PHN
Pulmonary Hypertension, Primary, 1 PLM164 PPH1
Pulmonary Hypertension, Primary, 2 PLM128 PPH2
Pulmonary Hypertension, Primary, 3 PLM127 PPH3
Pulmonary Hypertension, Primary, 4 PLM121 PPH4
Pulmonary Hypertension, Primary, Autosomal Recessive PLM169
Pulmonary Hypoplasia, Familial Primary PLM183
Pulmonary Hypoplasia, Primary PLM182
Pulmonary Immaturity PLM013
Pulmonary Interstitial Glycogenosis PLM108 PIG
Pulmonary Large Cell Neuroendocrine Carcinoma PLM038
Pulmonary Neuroendocrine Tumor PLM039
Pulmonary Nodular Lymphoid Hyperplasia, Familial PLM153
Pulmonary Plasma Cell Granuloma PLM002
Pulmonary Sarcoidosis PLM012
Pulmonary Sclerosing Hemangioma PLM018
Pulmonary Sequestration PLM064
Pulmonary Subvalvular Stenosis PLM008
Pulmonary Supravalvular Stenosis PLM065
Pulmonary Surfactant Protein B, Deficiency of PLM066
Pulmonary Systemic Sclerosis PLM015
Pulmonary Tuberculosis PLM001 PTB
Pulmonary Type Ovarian Small Cell Carcinoma PLM024
Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome PLM178
Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome PLM157
Pulmonary Valve Disease PLM040
Pulmonary Valve Insufficiency PLM022
Pulmonary Valve Stenosis PLM041
Pulmonary Valves Agenesis PLM067 PVA
Pulmonary Vein Leiomyosarcoma PLM003
Pulmonary Vein Stenosis PLM068
Pulmonary Venoocclusive Disease PLM025 PVOD
Pulmonary Venoocclusive Disease 1, Autosomal Dominant PLM170 PVOD1
Pulmonary Venoocclusive Disease 2, Autosomal Recessive PLM167 PVOD2
Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Haemangiomatosis PLM193
Pulmonary Venous Return Anomaly PLM069 APVR
Pulmonic Stenosis PLM070
Pulmonic Stenosis and Congenital Nephrosis PLM171
Pulmonic Stenosis and Deafness PLM166
Pulmonic Stenosis, Atrial Septal Defect, and Unique Electrocardiographic Abnormalities PLM165
Pulp Degeneration PLP002
Pulp Erosion PLP003
Pulpitis PLP001
Pulsating Exophthalmos PLS001
Pum1-Associated Developmental Disability-Ataxia-Seizure Syndrome PM1001 SCA47
Punctate Acrokeratoderma Freckle-Like Pigmentation PNC131
Punctate Epithelial Keratoconjunctivitis PNC012
Punctate Inner Choroidopathy PNC059 PIC
Punctate Palmoplantar Keratoderma PNC113
Punctate Porokeratosis PNC060 PPPP
Pupil Disease PPL023
Pupil, Egg-Shaped PPL055
Pupillary Membrane, Persistence of PPL056
Pura-Related Neurodevelopmental Disorders PRR032
Pure Autonomic Failure PRT058 PAF
Pure Hereditary Spastic Paraplegia PRH002
Pure Mitochondrial Myopathy PRM138
Pure or Complex Autosomal Dominant Spastic Paraplegia PRR041
Pure or Complex Autosomal Recessive Spastic Paraplegia PRR042
Pure or Complex Hereditary Spastic Paraplegia PRR040
Pure or Complex X-Linked Spastic Paraplegia PRR043
Pure Red-Cell Aplasia PRR002 PRCA
Purine Nucleoside Phosphorylase Deficiency PRN001 PNPD
Purine-Pyrimidine Metabolic Disorder PRN024
Purpura PRP030
Purpura Fulminans PRP034
Purpura Simplex PRP069
Purulent Acute Otitis Media PRL012
Purulent Endophthalmitis PRL018
Purulent Labyrinthitis PRL001
Pustular Psoriasis PST059
Pustular Pyoderma Gangrenosum PST107
Pustulosis of Palm and Sole PST011
Pustulosis Palmaris Et Plantaris PST062 LPP
Pycnodysostosis PYC001 PKND
Pyelitis PYL004
Pyelonephritis PYL005
Pyeloureteritis Cystica PYL001
Pyknoachondrogenesis PYK001
Pyle Disease PYL017 PYL
Pyloric Antrum Cancer PYL003
Pyloric Atresia PYL012
Pyloric Stenosis PYL006
Pyloric Stenosis, Infantile Hypertrophic, 1 PYL018 IHPS1
Pyloric Stenosis, Infantile Hypertrophic, 2 PYL008 IHPS2
Pyloric Stenosis, Infantile Hypertrophic, 3 PYL009 IHPS3
Pyloric Stenosis, Infantile Hypertrophic, 4 PYL010 IHPS4
Pyloric Stenosis, Infantile Hypertrophic, 5 PYL011 IHPS5
Pylorospasm PYL002
Pylorus Cancer PYL007
Pyoderma PYD002
Pyoderma Gangrenosum PYD001
Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome PYD004
Pyogenic Autoinflammatory Syndrome PYG009
Pyogenic Autoinflammatory Syndrome of Childhood PYG008
Pyogenic Granuloma PYG006
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne PYG003 PAPAS
Pyometritis PYM002
Pyomyositis PYM001 PM
Pyosalpinx PYS001
Pyoureter PYR005
Pyramidal Molars-Abnormal Upper Lip Syndrome PYR042
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency PYR021 PNPOD
Pyridoxine Deficiency PYR016
Pyridoxine Deficiency Anemia PYR009
Pyridoxine-Responsive Sideroblastic Anemia PYR006
Pyriform Sinus Cancer PYR008
Pyrimidine Metabolic Disorder PYR035
Pyromania PYR003
Pyropoikilocytosis, Hereditary PYR040 HPP
Pyruvate Carboxylase Deficiency PYR037 PC DEFICIENCY
Pyruvate Dehydrogenase E1-Alpha Deficiency PYR022 PDHAD
Pyruvate Dehydrogenase E1-Beta Deficiency PYR012 PDHBD
Pyruvate Dehydrogenase E2 Deficiency PYR025 PDHDD
Pyruvate Dehydrogenase E3-Binding Protein Deficiency PYR031 PDHXD
Pyruvate Dehydrogenase Phosphatase Deficiency PYR018 PDHPD
Pyruvate Kinase Deficiency of Red Cells PYR041 PKRD
Pyruvate Kinase Deficiency, Liver Type PYR019
Pyruvate Metabolism Disorder PYR043
Pythiosis PYT001
Pyuria PYR004
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