Disease Name Symbol Acronym
P3h1-Related Osteogenesis Imperfecta P3H001
Pachygyria PCH002
Pachyonychia Congenita 1 PCH015 PC1
Pachyonychia Congenita 2 PCH012 PC2
Pachyonychia Congenita 3 PCH010 PC3
Pachyonychia Congenita 4 PCH011 PC4
Pacinian Tumor PCN001
Pacs1-Related Syndrome PCS002
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 PGT010 JPD
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
Pain Agnosia PNG002
Pain Disorder PND001 PAIN
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome PLT025
Palb2-Related Cancer Susceptibility PLB001
Palb2-Related Fanconi Anemia PLB002
Palindromic Rheumatism PLN005
Pallister-Hall Syndrome PLL001 PHS
Pallister-Killian Syndrome PLL008
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal PLM082 PKKSCC
Palmoplantar Keratoderma and Woolly Hair PLM137 PPKWH
Palmoplantar Keratoderma with Congenital Alopecia PLM140 PPKCA1
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 PLM078 FNEPPK1
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 PLM142 FNEPPK2
Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse PLM131 PPKNEFD
Palmoplantar Keratosis PLM029
Panbronchiolitis, Diffuse PNB004 DPB
Pancoast Tumor PNC032
Pancreas Adenocarcinoma PNC033
Pancreas Disease PNC034
Pancreas Lymphoma PNC007
Pancreas, Annular PNC118
Pancreatic Acinar Cell Adenocarcinoma PNC015
Pancreatic Agenesis PNC045
Pancreatic Agenesis 1 PNC106 PAGEN1
Pancreatic Agenesis 2 PNC105 PAGEN2
Pancreatic Agenesis and Congenital Heart Defects PNC092 PACHD
Pancreatic and Cerebellar Agenesis PNC104 PACA
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 Susceptibility 1 PNC061 PNCA1
Pancreatic Cancer Susceptibility 2 PNC062 PNCA2
Pancreatic Cancer Susceptibility 3 PNC063 PNCA3
Pancreatic Cancer Susceptibility 4 PNC112 PNCA4
Pancreatic Cancer, Childhood PNC051
Pancreatic Cancer/melanoma Syndrome PNC046 FAMMMPC
Pancreatic Cholera PNC016
Pancreatic Cystadenocarcinoma PNC038
Pancreatic Cystadenoma PNC039
Pancreatic Ductal Adenocarcinoma PNC041
Pancreatic Ductal Carcinoma PNC013
Pancreatic Endocrine Carcinoma PNC008
Pancreatic Gastrinoma PNC027
Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or Without Tracheoesophageal Fistula PNC101
Pancreatic Intraductal Papillary-Mucinous Adenoma PNC022
Pancreatic Intraductal Papillary-Mucinous Neoplasm PNC043
Pancreatic Islet Cell Tumors PNC053
Pancreatic Lipase Deficiency PNC048
Pancreatic Mucinous Cystadenoma PNC002
Pancreatic Neuroendocrine Tumor PNC119
Pancreatic Serous Cystadenoma PNC018
Pancreatic Somatostatinoma PNC006
Pancreatic Steatorrhea PNC028
Pancreatitis PNC044
Pancreatitis, Hereditary PNC108 PCTT
Pancreatitis, Pediatric PNC055
Pancreatoblastoma PNC019
Pancytopenia PNC001
Pancytopenia Due to Ikzf1 Mutations PNC097
Pandas PND004
Panencephalitis, Subacute Sclerosing PNN005 SSPE
Panhypopituitarism, X-Linked PNH005 PHPX
Panic Disorder PNC025 PANIC
Panic Disorder 2 PNC070
Panic Disorder 3 PNC068
Panniculitis PNN001
Panophthalmitis PNP001
Panuveitis PNV001
Papillary Adenocarcinoma PPL018
Papillary Adenoma PPL001
Papillary Carcinoma PPL002
Papillary Conjunctivitis PPL019
Papillary Craniopharyngioma PPL009
Papillary Cystadenocarcinoma PPL003
Papillary Ependymoma PPL013
Papillary Follicular Thyroid Adenocarcinoma PPL010
Papillary Glioneuronal Tumor PPL039 PGNT
Papillary Hidradenoma PPL017
Papillary Serous Adenocarcinoma PPL007
Papillary Thymic Adenocarcinoma PPL015
Papillary Tumor of the Pineal Region PPL050 PTPR
Papilledema PPL021
Papilloma PPL022
Papillon-Lefevre Syndrome PPL049 PLS
Papillorenal Syndrome PPL048 PAPRS
Papular Mucinosis PPL026
Paracetamol Poisoning PRC051
Parachordoma PRC011
Paracoccidioidomycosis PRC002 PCM
Paraganglioma PRG013
Paraganglioma and Gastric Stromal Sarcoma PRG017 PGGSS
Paragangliomas 1, with or Without Deafness PRG097 PGL1
Paragangliomas 2 PRG019 PGL2
Paragangliomas 3 PRG020 PGL3
Paragangliomas 4 PRG021 PGL4
Paragangliomas 5 PRG094 PGL5
Paragonimiasis PRG008
Parainfluenza Virus Type 3 PRN029 PIV3
Paralytic Ileus PRL008
Paralytic Lagophthalmos PRL006
Paralytic Poliomyelitis PRL013
Paralytic Squint PRL014
Parameningeal Embryonal Rhabdomyosarcoma PRM208
Parametritis PRM008
Paramyloidosis PRM123
Paramyotonia Congenita PRM028 PMC
Paranasal Sinus Cancer PRN020
Paranasal Sinus Disease PRN021
Paraneoplastic Cerebellar Degeneration PRN032
Paraneoplastic Neurologic Disorders PRN033 PND
Paraneoplastic Pemphigus PRN049
Paraneoplastic Polyneuropathy PRN018
Paraneoplastic Syndromes PRN039
Paranoid Personality Disorder PRN010
Paranoid Schizophrenia PRN009
Parapharyngeal Meningioma PRP008
Paraphilia Disorder PRP015
Paraphimosis PRP013
Paraplegia PRP016
Parapsoriasis PRP005
Paraquat Lung PRQ001
Paraquat Poisoning PRQ002
Parasagittal Meningioma PRS024
Parasitic Ectoparasitic Infectious Disease PRS033
Parasitic Helminthiasis Infectious Disease PRS034
Parasitic Ichthyosporea Infectious Disease PRS035
Parasitic Protozoa Infectious Disease PRS036
Parasomnia, Sleepwalking Type PRS118
Parastremmatic Dwarfism PRS051 PSTD
Parathyroid Adenoma PRT029
Parathyroid Carcinoma PRT010 PRTC
Parathyroid Gland Disease PRT030
Parathyroid Transitional Clear Cell Adenoma PRT021
Paratyphoid Fever PRT002
Parenchymatous Neurosyphilis PRN006
Parietal Foramina 1 PRT059 PFM1
Parietal Foramina 2 PRT060 PFM2
Parietal Foramina with Cleidocranial Dysplasia PRT043 PFMCCD
Parietal Lobe Neoplasm PRT023
Park7-Related Parkinson Disease PRK015
Parkes Weber Syndrome PRK003 PKWS
Parkes Weber Syndrome, Rasa1-Related PRK016
Parkin Type of Early-Onset Parkinson Disease PRK046
Parkinson Disease 1 PRK031 PARK1
Parkinson Disease 10 PRK025
Parkinson Disease 11 PRK026 PARK11
Parkinson Disease 12 PRK022
Parkinson Disease 13 PRK037 PARK13
Parkinson Disease 14, Autosomal Recessive PRK071 PARK14
Parkinson Disease 15, Autosomal Recessive PRK027 PARK15
Parkinson Disease 16 PRK058
Parkinson Disease 17 PRK052 PARK17
Parkinson Disease 18 PRK051 PARK18
Parkinson Disease 19, Juvenile-Onset PRK055 PARK19A
Parkinson Disease 20, Early-Onset PRK065 PARK20
Parkinson Disease 21 PRK070 PARK21
Parkinson Disease 22 PRK078 PARK22
Parkinson Disease 23, Autosomal Recessive, Early Onset PRK079 PARK23
Parkinson Disease 4 PRK030 PARK4
Parkinson Disease 5 PRK045 PARK5
Parkinson Disease 6, Early Onset PRK020 PARK6
Parkinson Disease 7, Autosomal Recessive Early-Onset PRK021 PARK7
Parkinson Disease 8 PRK059 PARK8
Parkinson Disease Susceptibility PRK073
Parkinson Disease Type 9 PRK008 KRPPD
Parkinson Disease, Juvenile, Type 2 PRK024 PARK2
Parkinson Disease, Late-Onset PRK057 PARK
Parkinsonism with Spasticity, X-Linked PRK066 XPDS
Parkinsonism-Dystonia, Infantile PRK069 PKDYS
Parn-Related Dyskeratosis Congenita PRN059 DKCB6
Paronychia PRN014
Parotid Disease PRT031
Parotid Gland Cancer PRT009
Parotitis PRT026
Parovarian Cyst PRV001
Paroxysmal Choreoathetosis PRX022
Paroxysmal Exertion-Induced Dyskinesia PRX086 PED
Paroxysmal Extreme Pain Disorder PRX015 PEPD
Paroxysmal Hemicrania PRX009
Paroxysmal Nocturnal Hemoglobinuria PRX003 PNH
Paroxysmal Nocturnal Hemoglobinuria 2 PRX067 PNH2
Paroxysmal Nocturnal Hemoglobinuria, Somatic PRX023 PNH1
Paroxysmal Nonkinesigenic Dyskinesia PRX004 DYT8
Paroxysmal Nonkinesigenic Dyskinesia 2 PRX024
Paroxysmal Ventricular Fibrillation PRX010 IVF
Pars Planitis PRS012
Partial Atrioventricular Canal PRT048 PAVC
Partial Central Choroid Dystrophy PRT032 CACD
Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome PRT098
Partial Deletion of Y PRT049
Partial Fetal Alcohol Syndrome PRT001
Partial Hydatidiform Mole PRT086
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome PRT097 LCCNS
Partial Motor Epilepsy PRT006
Partial Optic Atrophy PRT024
Partington Syndrome PRT003 PRTS
Pasli Disease PSL001 APDS
Pasteurellosis PST010
Patau Syndrome PTS001
Patella Aplasia-Hypoplasia PTL010 PTLAH
Patella, Chondromalacia of PTL009
Patellar Tendinitis PTL003
Patellofemoral Pain Syndrome PTL002
Patent Arterial Duct PTN008 PAD
Patent Ductus Arteriosus PTN002 PDA
Patent Ductus Arteriosus 3 PTN012 PDA3
Patent Foramen Ovale PTN001 OSASD
Paternal 14q32.2 Hypomethylation Syndrome PTR013
Paternal 14q32.2 Microdeletion Syndrome PTR012
Paternal Uniparental Disomy of Chromosome 6 PTR018
Pathologic Nystagmus PTH003
Pathological Gambling PTH002
Patterned Macular Dystrophy PTT054
Patterned Macular Dystrophy 3 PTT055 MDPT3
Patulous Eustachian Tube PTL001 PET
Pauci-Immune Glomerulonephritis PCM002
Pax6-Related Anophthalmia PX6001
Pcca-Related Propionic Acidemia PCC001
Pccb-Related Propionic Acidemia PCC002
Pcdh19-Related Female-Limited Epilepsy PCD002 EFMR
Pcsk9-Related Familial Hypercholesterolemia, Autosomal Dominant PCS001
Pcwh Syndrome PCW002 PCWH
Pde6a-Related Retinitis Pigmentosa PD6001
Pde6b-Related Retinitis Pigmentosa PD6002 RP40
Pde6d-Related Joubert Syndrome PD6004
Pde6g-Related Retinitis Pigmentosa PD6003 RP57
Pdss1-Related Coenzyme Q10 Deficiency PDS001
Pdss2-Related Coenzyme Q10 Deficiency PDS002
Pdx1-Related Permanent Neonatal Diabetes Mellitus PDX001
Peach Allergy PCH016
Peanut Allergy PNT038
Pearson Marrow-Pancreas Syndrome PRS127
Pearson Syndrome PRS023
Pectus Carinatum PCT001
Pediatric Angiosarcoma PDT004
Pediatric Ependymoma PDT014
Pediatric Fibrosarcoma PDT019
Pediatric Germ Cell Cancer PDT020
Pediatric Hypertension PDT040
Pediatric Lymphoma PDT001
Pediatric Multiple Sclerosis PDT025
Pediatric Osteosarcoma PDT021
Pediatric Ovarian Dysgerminoma PDT003
Pediatric Ovarian Germ Cell Tumor PDT022
Pediatric Systemic Lupus Erythematosus PDT035
Pediatric Ulcerative Colitis PDT027
Pediculus Humanus Capitis Infestation PDC002
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 with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads PLN020 PLACK
Peho Syndrome PHS005 PEHO
Pelger-Huet Anomaly PLG001 PHA
Peliosis Hepatis PLS002
Pelizaeus-Merzbacher Disease PLZ001 HLD1
Pelizaeus-Merzbacher Disease in Female Carriers PLZ009
Pelizaeus-Merzbacher Disease, Classic Form PLZ007
Pelizaeus-Merzbacher Disease, Connatal Form PLZ006
Pelizaeus-Merzbacher Disease, Transitional Form PLZ008
Pelizaeus-Merzbacher-Like Disease PLZ002 PMLD
Pellagra PLL002
Pelvic Inflammatory Disease PLV003 PID
Pelvic Lipomatosis PLV001
Pelvic Organ Prolapse 2 PLV014
Pelvic Varices PLV004
Pelviureteric Junction Obstruction PLV005 CAKUT2
Pemphigoid Gestationis PMP002
Pemphigus PMP001
Pemphigus Erythematosus PMP009
Pemphigus Foliaceus PMP004 PF
Pemphigus Vegetans PMP008
Pemphigus Vulgaris PMP005
Pendred Syndrome PND002 PDS
Pendred Syndrome/dfnb4 PND003
Penicillin Allergy PNC085
Penicilliosis PNC005
Penile Cancer PNL012
Penile Disease PNL013
Penis Agenesis PNS014
Penis Carcinoma in Situ PNS002
Penis Squamous Cell Carcinoma PNS010
Pentosuria PNT006 PNTSU
Pepck 1 Deficiency PPC001
Pepck Deficiency, Mitochondrial PPC003 M-PEPCKD
Peptic Esophagitis PPT001
Peptic Ulcer Disease PPT005
Peptic Ulcer Perforation PPT002
Perforated Corneal Ulcer PRF002
Periampullary Adenocarcinoma PRM014
Periampullary Adenoma PRM190
Perianal Hematoma PRN017
Periapical Granuloma PRP002
Periapical Periodontitis PRP017
Periarthritis PRR001
Pericardial Effusion PRC012
Pericardial Mesothelioma PRC010
Pericardial Tuberculosis PRC005
Pericarditis PRC013
Pericardium Cancer PRC014
Pericardium Disease PRC050
Pericholangitis PRC008
Pericoronitis PRC001
Perilymphatic Fistula PRL021
Perinatal Necrotizing Enterocolitis PRN019 NEC
Perinatally Lethal Osteogenesis Imperfecta PRN052
Perinephritis PRN007
Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis PRD012 PFAPA
Periodic Fever, Familial PRD019 FHF
Periodic Fever, Menstrual Cycle Dependent PRD029 PFMC
Periodic Limb Movement Disorder PRD002
Periodic Paralyses PRD017
Periodic Paralysis with Later-Onset Distal Motor Neuropathy PRD033
Periodic Paralysis with Transient Compartment-Like Syndrome PRD032
Periodontal Disease PRD007
Periodontal Ehlers-Danlos Syndrome PRD037 EDS8
Periodontitis PRD008
Periodontitis 1, Juvenile PRD030 AP1
Periodontitis, Aggressive, 2 PRD018
Periodontosis PRD003
Periosteal Chondrosarcoma PRS016
Periosteal Osteogenic Sarcoma PRS029
Periostitis PRS037
Peripartum Cardiomyopathy PRP009
Peripheral Arterial Occlusive Disease 1 PRP050
Peripheral Artery Disease PRP080
Peripheral Nerve Schwannoma PRP018
Peripheral Nervous System Disease PRP019
Peripheral Nervous System Neoplasm PRP021
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss PRP075 PNMHH
Peripheral Osteosarcoma PRP024
Peripheral Retinal Degeneration PRP026
Peripheral T-Cell Lymphoma PRP036
Peripheral Vascular Disease PRP027 PAD
Peripheral Vertigo PRP028
Peritoneal Benign Neoplasm PRT033
Peritoneal Mesothelioma PRT096
Peritoneal Serous Adenocarcinoma PRT034
Peritoneal Serous Papillary Adenocarcinoma PRT017
Peritoneum Cancer PRT035
Peritonitis PRT036
Perivascular Epithelioid Cell Tumor PRV003
Periventricular Heterotopia with Microcephaly PRV007 PVNH2
Periventricular Leukomalacia PRV004 PVL
Periventricular Nodular Heterotopia 3 PRV013
Periventricular Nodular Heterotopia 5 PRV014
Periventricular Nodular Heterotopia 6 PRV016 PVNH6
Periventricular Nodular Heterotopia 7 PRV018 PVNH7
Perlman Syndrome PRL032 PRLMNS
Pernicious Anemia PRN011
Peroneal Nerve Paralysis PRN008
Peroneal Neuropathy PRN016
Peroxisomal Acyl-Coa Oxidase Deficiency PRX028 PSEUDO-NALD
Peroxisomal Biogenesis Disorders PRX077
Peroxisomal Disease PRX001
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder PRX072 PFCRD
Peroxisome Biogenesis Disorder 10a PRX048 PBD10A
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 PBD14B
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, PRX061 PBD8A
Peroxisome Biogenesis Disorder 8b PRX062 PBD8B
Peroxisome Biogenesis Disorder 9b PRX050 PBD9B
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum PRX007 ZSD
Peroxisome Disorders PRX034
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
Perry Syndrome PRR007 PERRYS
Persian Gulf Syndrome PRS011
Persistent Fetal Circulation Syndrome PRS030
Persistent Generalized Lymphadenopathy PRS123 PGL
Persistent Genital Arousal Disorder PRS119 PGAD
Persistent Hyperplastic Primary Vitreous PRS062 PFVS
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive PRS122 PHPVAR
Persistent Mullerian Duct Syndrome PRS049 PMDS
Persistent Mullerian Duct Syndrome, Type Ii PRS068 PMDS1
Persistent Polyclonal B-Cell Lymphocytosis PRS108 PPBL
Persistent Vegetative State PRS064
Personality Disorder PRS038
Pertussis PRT037
Pervasive Developmental Disorder PRV006
Peters Anomaly PTR006 ASGD5
Petroclival Meningioma PTR002
Petrous Apex Meningioma PTR003
Peutz-Jeghers Syndrome PTZ001 PJS
Pex7-Related Refsum Disease PX7001
Peyronie's Disease PYR010
Pfeiffer Syndrome PFF001 PS
Pfeiffer Syndrome Type 1 PFF007
Pfeiffer Syndrome Type 1, 2 and 3 PFF008 ACS5
Pfeiffer Syndrome Type 2 PFF011
Pfeiffer Syndrome Type 3 PFF009
Pfn1-Related Amyotrophic Lateral Sclerosis PFN001 ALS18
Pgm3-Cdg PGM026
Phacogenic Glaucoma PHC002
Phacolytic Glaucoma PHC001
Phacomatosis Pigmentokeratotica PHC005
Phaeochromocytoma PHC013
Phaeohyphomycosis PHH001
Phagocyte Bactericidal Dysfunction PHG002
Phakomatosis Cesioflammea PHK008
Phakomatosis Cesiomarmorata PHK009
Phakomatosis Pigmentokeratotica PHK006
Pharyngitis PHR003
Pharyngoconjunctival Fever PHR002
Pharynx Cancer PHR004
Phelan-Mcdermid Syndrome PHL006 PHMDS
Phencyclidine Abuse PHN001
Phenylketonuria PHN003 HPA
Phenytoin or Carbamazepine Toxicity PHN012
Pheochromocytoma PHC003 PCC
Philadelphia-Negative Chronic Myeloid Leukemia PHL007
Phimosis PHM001
Phka1-Related Phosphorylase Kinase Deficiency PHK001
Phka2-Related Phosphorylase Kinase Deficiency PHK002
Phkb-Related Phosphorylase Kinase Deficiency PHK003
Phkg2-Related Phosphorylase Kinase Deficiency PHK004
Phlebotomus Fever PHL003
Phlyctenulosis PHL001
Phobia, Specific PHB003
Phobic Disorder PHB001
Phocomelia PHC014
Phonagnosia PHN002
Phosphoenolpyruvate Carboxykinase-1, Cytosolic, Deficiency PHS020 C-PEPCKD
Phosphoglycerate Dehydrogenase Deficiency PHS021 PHGDHD
Phosphoglycerate Kinase 1 Deficiency PHS014 PGK1D
Phosphoglycerate Kinase Deficiency PHS009
Phosphoglycerate Mutase Deficiency PHS010 GSDX
Phosphohydroxylysinuria PHS019 PHLU
Phospholipase A2, Group Iv a, Deficiency of PHS015
Phosphoribosylpyrophosphate Synthetase Superactivity PHS004 PRPS1 SUPERACTIVITY
Phosphorus Metabolism Disease PHS001
Phosphorylase Kinase Deficiency PHS018 GSDIX
Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive PHS016 GSD9B
Phosphoserine Aminotransferase Deficiency PHS023 PSATD
Phosphoserine Phosphatase Deficiency PHS022 PSPHD
Photoallergic Dermatitis PHT004
Photokeratitis PHT002
Photoparoxysmal Response 1 PHT010
Photoparoxysmal Response 2 PHT009
Photoparoxysmal Response 3 PHT011
Photosensitive Epilepsy PHT008 PSE
Phototoxic Dermatitis PHT003
Phox2a-Related Congenital Fibrosis of the Extraocular Muscles PHX001
Phox2b-Related Neuroblastoma, Susceptibility PHX002
Phyh-Related Refsum Disease PHY003
Phyllode Tumor PHY007
Physical Disorder PHY002
Physical Urticaria PHY008
Physiological Polycythemia PHY001
Pica Disease PCD001 PICA
Pick Disease PCK002 PIDB
Piebald Trait, Kit-Related PBL002
Piebald Trait, Snai2-Related PBL003
Piebaldism PBL001 PBT
Pierpont Syndrome PRP093 PRPTS
Pierre Robin Syndrome PRR016
Pierson Syndrome PRS055 PIERSS
Piga-Related Simpson-Golabi-Behmel Syndrome Type 2 PGR001
Pigment Dispersion Syndrome PGM005
Pigmentary Disorder, Reticulate, with Systemic Manifestations PGM027 PDR
Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome PGM025
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 Villonodular Synovitis PGM001 TGCT
Pik3ca-Related Segmental Overgrowth PK3001
Pilar Sheath Acanthoma PLR003
Pili Torti PLT008
Pilocytic Astrocytoma PLC011
Pilocytic Astrocytoma of Cerebellum PLC004
Pilomyxoid Astrocytoma PLM021
Pineal Gland Cancer PNL014
Pineal Parenchymal Tumor of Intermediate Differentiation PNL002 PPTID
Pineal Region Choriocarcinoma PNL009
Pineal Region Germinoma PNL011
Pineal Region Meningioma PNL003
Pineal Region Teratoma PNL015
Pineoblastoma PNB001
Pineocytoma PNC056
Pinguecula PNG001
Pink1 Type of Young-Onset Parkinson Disease PNK001
Pitt-Hopkins Syndrome PTT014 PTHS
Pitt-Hopkins-Like Syndrome PTT042
Pitt-Hopkins-Like Syndrome 2 PTT030 PTHSL2
Pituicytoma PTC005
Pituitary Adenoma PTT006
Pituitary Adenoma, Acth-Secreting PTT049 ASPA
Pituitary Adenoma, Growth Hormone-Secreting PTT050 PAGH1
Pituitary Adenoma, Growth Hormone-Secreting 2 PTT051 PAGH2
Pituitary Adenoma, Prolactin-Secreting PTT048 PSPA
Pituitary Apoplexy PTT004
Pituitary Carcinoma PTT008
Pituitary Gland Disease PTT009
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 Tumors PTT037
Pituitary-Dependent Cushing's Disease PTT003
Pitx1-Related Congenital Clubfoot PTX001
Pitx3-Related Anterior Segment Mesenchymal Dysgenesis PTX002
Pityriasis Lichenoides PTY004
Pityriasis Lichenoides Et Varioliformis Acuta PTY006 PLEVA
Pityriasis Rosea PTY001
Pityriasis Rubra Pilaris PTY003 PRP
Pityriasis Versicolor PTY002
Pkp1-Related Ectodermal Dysplasia/skin Fragility Syndrome PKP001
Pla2g6-Related Parkinson Disease PL2003
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 Fasciitis PLN007
Plantar Wart PLN001
Plaque-Form Urticaria Pigmentosa PLQ001
Plasma Cell Leukemia PLS016 PCL
Plasma Cell Neoplasm PLS009
Plasma Fibronectin Deficiency PLS026
Plasma Protein Metabolism Disease PLS010
Plasma Triglyceride Level Qtl, Low PLS028
Plasmablastic Lymphoma PLS025 PBL
Plasmacytic Leukemia PLS003
Plasmacytoma PLS011
Plasminogen Activator Inhibitor-1 Deficiency PLS029 PAI-1D
Plasminogen Deficiency, Type I PLS030 PLGD
Plasmodium Falciparum Malaria PLS007
Plasmodium Malariae Malaria PLS008
Plasmodium Ovale Malaria PLS005
Plasmodium Vivax Malaria PLS006
Plastic Bronchitis PLS031
Platelet Disorder, Familial, with Associated Myeloid Malignancy PLT019 FPDMM
Platelet Glycoprotein Iv Deficiency PLT004 PG4D
Platelet-Activating Factor Acetylhydrolase Deficiency PLT006 PAFAD
Platelet-Type Bleeding Disorder 20 PLT023 BDPLT20
Platyspondylic Skeletal Dysplasia, Torrance Type PLT014 PLSD-T
Plec-Related Epidermolysis Bullosa with Pyloric Atresia PLC022
Plekhg5-Related Intermediate Charcot-Marie-Tooth Neuropathy C PLK002
Plekhm1-Related Autosomal Recessive Osteopetrosis PLK001 OPTB6
Pleomorphic Adenoma PLM014
Pleomorphic Adenoma Carcinoma PLM009
Pleomorphic Carcinoma PLM016
Pleomorphic Lipoma PLM005
Pleomorphic Liposarcoma PLM019 PLS
Pleomorphic Rhabdomyosarcoma PLM030
Pleomorphic Xanthoastrocytoma PLM020 PXA
Pleural Cancer PLR006
Pleural Disease PLR022
Pleural Empyema PLR007
Pleural Tuberculosis PLR001
Pleurisy PLR008
Pleuropneumonia PLR005
Pleuropulmonary Blastoma PLR004 PPB
Plexiform Neurofibroma PLX002
Plexiform Schwannoma PLX001
Plexopathy PLX004
Plica Syndrome PLC002
Pln-Related Dilated Cardiomyopathy PLN012
Pln-Related Familial Hypertrophic Cardiomyopathy PLN013
Plp1-Related Disorders PLP005
Plummer's Disease PLM011
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 PMP012
Pmp22-Rai1 Contiguous Gene Duplication Syndrome PMP011
Pms1-Related Lynch Syndrome PMS002
Pms2-Related Lynch Syndrome PMS003
Pms2-Related Turcot Syndrome PMS004
Pneumatosis Cystoides Intestinalis PNM003
Pneumococcal Meningitis PNM013
Pneumoconiosis PNM006
Pneumoconiosis Due to Talc PNM004
Pneumocystosis PNM001 PCP
Pneumonia PNM007
Pneumonic Plague PNM005
Pneumonic Tularemia PNM002
Pneumothorax PNM008
Pneumothorax, Primary Spontaneous PNM010 PSP
Pnpla1-Related Autosomal Recessive Congenital Ichthyosis PNP002
Pnpla3-Related Susceptibility to Nonalchoholic Fatty Liver Disease PNP003
Pnpla6-Related Disorders PNP004
Podoconiosis PDC001
Poems Syndrome PMS001
Poikiloderma with Neutropenia PKL001 PN
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis PKL002 POIKTMP
Pol Iii-Related Leukodystrophies PLR009 LO
Poland Syndrome PLN006
Polg-Related Ataxia Neuropathy Spectrum Disorders PLG006
Polg-Related Disorders PLG003
Polg-Related Mitochondrial Dna Depletion Syndrome, Mngie Form PLG008
Polh-Related Xeroderma Pigmentosum PLH001
Poliomyelitis PLM031 POLIO
Pollen Allergy PLL012
Polr1c-Related Treacher Collins Syndrome PLR010 TCS3
Polr1d-Related Treacher Collins Syndrome PLR011 TCS2
Polr3-Related Leukodystrophy PLR023
Polyarteritis Nodosa PLY017 PAN
Polyarteritis Nodosa, Childhood-Onset PLY112 PAN
Polyarticular Onset Juvenile Idiopathic Arthritis PLY065
Polyclonal Hypergammaglobulinemia PLY010
Polycyctic Kidney Disease 3 PLY140 PKD3
Polycystic Echinococcosis PLY003
Polycystic Kidney and Hepatic Disease PLY022 ARPKD
Polycystic Kidney Disease PLY014 PKD
Polycystic Kidney Disease 1, Autosomal Dominant PLY048 PKD 1
Polycystic Kidney Disease 2 PLY060 PKD2
Polycystic Kidney Disease 2, Autosomal Dominant PLY049 PKD 2
Polycystic Kidney Disease 3 PLY139 PKD3
Polycystic Kidney Disease, Adult Type I PLY059 PKD1
Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis PLY116 PKDTS
Polycystic Liver Disease PLY023 PCLD1
Polycystic Ovary Syndrome PLY011 PCOS
Polycystic Ovary Syndrome 1 PLY105
Polycythemia PLY018
Polycythemia Vera, Somatic PLY125 PV
Polydactyly PLY006
Polydactyly Cleft Lip Palate Psychomotor Retardation PLY030 OFD6
Polydactyly of a Triphalangeal Thumb, Bilateral PLY092
Polydactyly of a Triphalangeal Thumb, Unilateral PLY091
Polydactyly, Postaxial, Type A3 PLY053
Polydactyly, Postaxial, Type A4 PLY054
Polydactyly, Postaxial, Type A5 PLY103
Polydactyly, Postaxial, Type A6 PLY101 PAPA6
Polydactyly, Postaxial, Types A1 and B PLY057 PAPA1
Polydactyly, Preaxial Type Ii PLY058 PPD2
Polydactyly, Preaxial, Type Iv PLY121 POP4
Polyembryoma PLY036
Polyendocrine-Polyneuropathy Syndrome PLY115 PEPNS
Polyglucosan Body Disease, Adult Form PLY120 APBN
Polyglucosan Body Myopathy 1 with or Without Immunodeficiency PLY118 PGBM1
Polyglucosan Body Myopathy 2 PLY114 PGBM2
Polyhydramnios PLY012
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy PLY062
Polymerase Proofreading-Related Adenomatous Polyposis PLY138 PPAP
Polymicrogyria PLY024 PMG
Polymicrogyria with Optic Nerve Hypoplasia PLY050 CDCBM8
Polymicrogyria with Seizures PLY104 MSSP
Polymicrogyria, Bilateral Frontoparietal PLY117 BFPP
Polymicrogyria, Bilateral Perisylvian PLY119 BPPR
Polymicrogyria, Bilateral Temporooccipital PLY110 BTOP
Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis PLY126 PMGYCHA
Polymicrogyria, Symmetric or Asymmetric PLY102 CDCBM7
Polymorphous Low-Grade Adenocarcinoma PLY040
Polymyositis PLY041 PM
Polyneuropathy PLY019
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract PLY052 PHARC
Polyposis Syndrome, Hereditary Mixed, 2 PLY066 HMPS2
Polyposis, Juvenile Intestinal PLY056 JPS
Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes PLY131
Polyradiculoneuropathy PLY020
Polyradiculopathy PLY021
Polysyndactyly, Bilateral PLY094
Polysyndactyly, Unilateral PLY095
Pomgnt1-Related Muscle Diseases PMG001
Pompholyx PMP010
Pomt1-Related Muscle Diseases PMT001
Pomt2-Related Muscle Diseases PMT002
Pontiac Fever PNT001
Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy PNT040
Pontine Tegmental Cap Dysplasia PNT009 PTCD
Pontocerebellar Hypoplasia PNT019 PCH
Pontocerebellar Hypoplasia 2f PNT041 PCH2F
Pontocerebellar Hypoplasia Type 1 PNT010 PCH1
Pontocerebellar Hypoplasia Type 1a PNT017 PCH1A
Pontocerebellar Hypoplasia Type 2a PNT022 PCH2A
Pontocerebellar Hypoplasia Type 2b PNT020 PCH2B
Pontocerebellar Hypoplasia Type 2c PNT021 PCH2C
Pontocerebellar Hypoplasia Type 2d PNT029 PCH2D
Pontocerebellar Hypoplasia Type 4 PNT013 PCH4
Pontocerebellar Hypoplasia Type 5 PNT014 PCH5
Pontocerebellar Hypoplasia, Type 10 PNT033 PCH10
Pontocerebellar Hypoplasia, Type 1b PNT018 PCH1B
Pontocerebellar Hypoplasia, Type 1c PNT035 PCH1C
Pontocerebellar Hypoplasia, Type 2e PNT034 PCH2E
Pontocerebellar Hypoplasia, Type 3 PNT037 PCH3
Pontocerebellar Hypoplasia, Type 6 PNT036 PCH6
Pontocerebellar Hypoplasia, Type 7 PNT039 PCH7
Pontocerebellar Hypoplasia, Type 8 PNT030 PCH8
Pontocerebellar Hypoplasia, Type 9 PNT032 PCH9
Popliteal Pterygium Syndrome 1 PPL046 PPS
Popliteal Pterygium Syndrome 2, Lethal Type PPL047 PPS-L
Popliteal Pterygium Syndrome, Bartsocas-Papas Type PPL051 BPS
Porencephaly PRN026
Porencephaly 1 PRN053 POREN1
Porencephaly 2 PRN047 POREN2
Poretti-Boltshauser Syndrome PRT101 PTBHS
Porokeratosis PRK001 DSAP
Porokeratosis 3, Disseminated Superficial Actinic PRK060 POROK3
Porokeratosis 3, Multiple Types PRK080
Porokeratosis 7, Multiple Types PRK075 POROK7
Porokeratosis 8, Disseminated Superficial Actinic Type PRK067 POROK8
Porokeratosis 9, Multiple Types PRK074 POROK9
Porokeratosis of Mibelli PRK010
Porokeratotic Eccrine Ostial and Dermal Duct Nevus PRK047
Porphyria PRP029
Porphyria Cutanea Tarda PRP003 HEP
Porphyria Cutanea Tarda, Type I PRP091
Porphyria Variegata PRP032 VP
Porphyria, Acute Hepatic PRP056 AHEPP
Porphyria, Acute Intermittent PRP083 AIP
Porphyria, Congenital Erythropoietic PRP082 CEP
Portal Hypertension PRT013
Portal Vein Thrombosis PRT018
Posner-Schlossman Syndrome PSN006
Post-Surgical Hypoinsulinemia PST024
Post-Thrombotic Syndrome PST095
Post-Transplant Lymphoproliferative Disease PST046 PTLD
Post-Traumatic Epilepsy PST047
Post-Traumatic Stress Disorder PST028 PTSD
Post-Vaccinal Encephalitis PST007
Postaxial Polydactyly Type a, Bilateral PST083
Postaxial Polydactyly Type a, Unilateral PST080
Postaxial Polydactyly Type B, Bilateral PST081
Postaxial Polydactyly Type B, Unilateral PST082
Postaxial Polydactyly, Type A2 PST057
Postcholecystectomy Syndrome PST030
Postencephalitic Parkinson Disease PST027
Posterior Cerebral Artery Infarction PST018
Posterior Column Ataxia PST040
Posterior Cortical Atrophy PST086 PCA
Posterior Myocardial Infarction PST001
Posterior Polar Cataract PST016
Posterior Scleritis PST008
Posterior Urethral Valves PST041 PUV
Posterior Uveal Melanoma PST022
Posterior Uveitis PST005
Posteroinferior Myocardial Infarction PST002
Posterolateral Myocardial Infarction PST017
Postgastrectomy Syndrome PST035
Postherpetic Neuralgia PST053
Postmenopausal Atrophic Vaginitis PST029
Postpartum Depression PST021
Postpartum Psychosis PST103
Postpoliomyelitis Syndrome PST020
Postsurgical Hypothyroidism PST014
Postsynaptic Congenital Myasthenic Syndromes PST063
Postural Hypotension PST055
Postural Orthostatic Tachycardia Syndrome PST048 POTS
Pot1-Related Susceptibility to Cutaneous Malignant Melanoma PT1001 CMM10
Potocki-Lupski Syndrome PTC002 PTLS
Potocki-Luspski Syndrome PTC006
Potocki-Shaffer Syndrome PTC001 POSHS
Potter's Syndrome PTT002
Pou1f1-Related Combined Pituitary Hormone Deficiency P1F001
Pouchitis PCH007
Ppib-Related Osteogenesis Imperfecta PPB001
Prader-Willi Syndrome PRD006 PWS
Prader-Willi Syndrome Due to Imprinting Mutation PRD025
Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 PRD028
Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 PRD022
Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 PRD023
Prader-Willi Syndrome Due to Translocation PRD024
Prader-Willi-Like Syndrome Associated with Chromosome 6 PRD016
Prader-Willi-Like Syndrome Due to Point Mutation PRD034
Prcd-Related Retinitis Pigmentosa PRC028 RP36
Prdm16-Related Dilated Cardiomyopathy PRD038
Pre-Descemet Corneal Dystrophy PRD026 PDCD
Pre-Eclampsia PRC016
Pre-Malignant Neoplasm PRM023
Preauricular Fistulae, Congenital PRR015
Preauricular Sinus PRR018
Preauricular Tag, Isolated, Autosomal Dominant, 1 PRR023
Precocious Puberty PRC019
Precocious Puberty, Central, 1 PRC047 CPPB1
Precocious Puberty, Central, 2 PRC046 CPPB2
Precocious Puberty, Male PRC030 FMPP
Precursor B Lymphoblastic Lymphoma/leukemia PRC004
Precursor Lymphoblastic Lymphoma/leukemia PRC017
Precursor T-Cell Acute Lymphoblastic Leukemia PRC049 T-ALL
Precursor T-Lymphoblastic Lymphoma/leukemia PRC018
Prediabetes Syndrome PRD004
Predominantly Cortical Thymoma PRD001
Preeclampsia/eclampsia 1 PRC031
Preeclampsia/eclampsia 2 PRC032
Preeclampsia/eclampsia 3 PRC033
Preeclampsia/eclampsia 4 PRC034 PEE4
Preeclampsia/eclampsia 5 PRC045 PEE5
Pregnancy Loss, Recurrent 1 PRG092 RPRGL1
Pregnancy Loss, Recurrent 2 PRG096 RPRGL2
Pregnancy Loss, Recurrent 3 PRG093 RPRGL3
Pregnancy Loss, Recurrent, Susceptibility 3 PRG107
Preimplantation Embryonic Lethality 1 PRM252 PREMBL1
Preimplantation Embryonic Lethality 2 PRM251 PREMBL2
Premature Aging Syndrome, Penttinen Type PRM206 PENTT
Premature Chromatid Separation Trait PRM087 PCS
Premature Ejaculation PRM003
Premature Menopause PRM013
Premature Ovarian Failure PRM019 POF2A
Premature Ovarian Failure 1 PRM196 POF1
Premature Ovarian Failure 10 PRM207 POF10
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
Preretinal Fibrosis PRR004
Presbyopia PRS025
Presynaptic Congenital Myasthenic Syndromes PRS124
Preterm Premature Rupture of the Membranes PRT082
Priapism PRP007
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia PRC020
Prieto Syndrome PRT110 PRS
Prieto X-Linked Mental Retardation Syndrome PRT055
Primary Agammaglobulinemia PRM038
Primary Aldosteronism, Seizures, and Neurologic Abnormalities PRM183 PASNA
Primary Amebic Meningoencephalitis PRM004 PAM
Primary Angle-Closure Glaucoma PRM024
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders PRM174
Primary Autosomal Recessive Microcephaly Type 2 PRM060 MCPH2
Primary Bacterial Infectious Disease PRM025
Primary Biliary Cholangitis PRM236 PBC
Primary Biliary Cirrhosis PRM006
Primary Bone Cancer PRM243
Primary Central Nervous System Lymphoma PRM226 PCNSL
Primary Cerebellar Degeneration PRM015
Primary Ciliary Dyskinesia PRM011 ICS
Primary Ciliary Dyskinesia 1: Dnai1-Related Primary Ciliary Dyskinesia PRM066
Primary Ciliary Dyskinesia 2: Dnaaf3-Related Primary Ciliary Dyskinesia PRM117
Primary Ciliary Dyskinesia 3: Dnah5-Related Primary Ciliary Dyskinesia PRM068
Primary Ciliary Dyskinesia 33 PRM241 CILD33
Primary Ciliary Dyskinesia 34 PRM240 CILD34
Primary Ciliary Dyskinesia 35 PRM242 CILD35
Primary Ciliary Dyskinesia 5: Hydin-Related Primary Ciliary Dyskinesia PRM118
Primary Ciliary Dyskinesia 6: Nme8-Related Primary Ciliary Dyskinesia PRM119
Primary Ciliary Dyskinesia 7: Dnah11-Related Primary Ciliary Dyskinesia PRM072
Primary Ciliary Dyskinesia 9: Dnai2-Related Primary Ciliary Dyskinesia PRM074
Primary Ciliary Dyskinesia10: Dnaaf2-Related Primary Ciliary Dyskinesia PRM076
Primary Ciliary Dyskinesia11: Rsph4a-Related Primary Ciliary Dyskinesia PRM077
Primary Ciliary Dyskinesia12: Rsph9-Related Primary Ciliary Dyskinesia PRM078
Primary Ciliary Dyskinesia13: Dnaaf1-Related Primary Ciliary Dyskinesia PRM079
Primary Ciliary Dyskinesia14: Ccdc39-Related Primary Ciliary Dyskinesia PRM080
Primary Ciliary Dyskinesia15: Ccdc40-Related Primary Ciliary Dyskinesia PRM081
Primary Ciliary Dyskinesia16: Dnal1-Related Primary Ciliary Dyskinesia PRM082
Primary Ciliary Dyskinesia17: Ccdc103-Related Primary Ciliary Dyskinesia PRM120
Primary Ciliary Dyskinesia18: Dnaaf5-Related Primary Ciliary Dyskinesia PRM244
Primary Ciliary Dyskinesia19: Lrrc6-Related Primary Ciliary Dyskinesia PRM122
Primary Ciliary Dyskinesia20: Ccdc114-Related Primary Ciliary Dyskinesia PRM213
Primary Ciliary Dyskinesia21: Drc1-Related Primary Ciliary Dyskinesia PRM228
Primary Ciliary Dyskinesia22: Zmynd10-Related Primary Ciliary Dyskinesia PRM214
Primary Ciliary Dyskinesia23: Armc4-Related Primary Ciliary Dyskinesia PRM215
Primary Ciliary Dyskinesia24: Rsph1-Related Primary Ciliary Dyskinesia PRM216
Primary Ciliary Dyskinesia25: Dnaaf4-Related Primary Ciliary Dyskinesia PRM245
Primary Ciliary Dyskinesia26: C21orf59-Related Primary Ciliary Dyskinesia PRM218
Primary Ciliary Dyskinesia27: Ccdc65-Related Primary Ciliary Dyskinesia PRM219
Primary Ciliary Dyskinesia28: Spag1-Related Primary Ciliary Dyskinesia PRM229
Primary Ciliary Dyskinesia29: Ccno-Related Primary Ciliary Dyskinesia PRM220
Primary Ciliary Dyskinesia30: Ccdc151-Related Primary Ciliary Dyskinesia PRM221
Primary Congenital Glaucoma PRM032
Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma PRM131
Primary Cutaneous Amyloidosis PRM001 PCA
Primary Cutaneous Anaplastic Large Cell Lymphoma PRM155
Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma PRM132
Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type PRM127
Primary Cutaneous Marginal Zone B-Cell Lymphoma PRM129 PCMZL
Primary Effusion Lymphoma PRM042 PEL
Primary Familial Brain Calcification PRM175 PFBC
Primary Familial Brain Calcification 1 PRM177
Primary Familial Brain Calcification 3 PRM179
Primary Familial Brain Calcification 4 PRM180
Primary Familial Brain Calcification 5 PRM211
Primary Fanconi Syndrome PRM200
Primary Hepatic Neuroendocrine Carcinoma PRM205
Primary Hypereosinophilic Syndrome PRM149 HES-M
Primary Hyperoxaluria PRM002
Primary Hypertrophic Osteoarthropathy PRM018 PDP
Primary Hypomagnesemia PRM237 HOMG
Primary Immunodeficiency Disease PRM097
Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection PRM247
Primary Lateral Sclerosis, Adult, 1 PRM092 PLS
Primary Lateral Sclerosis, Juvenile PRM195 JPLS
Primary Mediastinal Large B-Cell Lymphoma PRM163
Primary Microcephaly PRM212
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome PRM187
Primary Optic Atrophy PRM016
Primary Orthostatic Hypotension PRM227
Primary Peritoneal Carcinoma PRM126 PPC
Primary Pigmented Nodular Adrenocortical Disease PRM051 PPNAD
Primary Polycythemia PRM012
Primary Progressive Freezing Gait PRM157
Primary Progressive Multiple Sclerosis PRM108 PPMS
Primary Syphilis PRM022
Primary Systemic Mycosis PRM026
Primary Thrombocytopenia PRM225
Primrose Syndrome PRM056 PRIMS
Prinzmetal's Variant Angina PRN037
Prion Disease PRN023 TSES
Prion Disease with Protracted Course PRN028 SENF
Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments PRK068
Prkcd-Related Autoimmune Lymphoproliferative Syndrome PRK077 ALPS3
Prkg1-Related Thoracic Aortic Aneurysms and Aortic Dissections PRK072 AAT8
Proctitis PRC003
Progeria PRG004 HGPS
Progeria-Associated Arthropathy PRG089
Progeroid and Marfanoid Aspect-Lipodystrophy Syndrome PRG088
Progeroid Laminopathies PRG037
Progeroid Short Stature with Pigmented Nevi PRG023
Progesterone Resistance PRG014
Progesterone-Receptor Negative Breast Cancer PRG003
Progesterone-Receptor Positive Breast Cancer PRG002
Progressive Bulbar Palsy PRG007
Progressive Cavitating Leukoencephalopathy PRG076
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 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, Autosomal Dominant 1 PRG105 PEOA1
Progressive External Ophthalmoplegia, Autosomal Recessive 1 PRG104 PEOB1
Progressive Familial Heart Block PRG126 HBBD
Progressive Familial Heart Block, Type Ib PRG043 PFHB1B
Progressive Familial Heart Block, Type Ii PRG101 PFHB2
Progressive Multifocal Leukoencephalopathy PRG009 PML
Progressive Muscular Atrophy PRG001 PMA
Progressive Muscular Dystrophy PRG106
Progressive Myoclonus Epilepsy PRG011 PME
Progressive Myoclonus Epilepsy, Lafora Type PRG074
Progressive Nodular Histiocytosis PRG077
Progressive Non-Fluent Aphasia PRG033
Progressive Relapsing Multiple Sclerosis PRG090 PRMS
Progressive Scapulohumeroperoneal Distal Myopathy PRG121
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome PRG125
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
Progressively Deforming Osteogenesis Imperfecta PRG091
Prok2-Related Isolated Gonadotropin-Releasing Hormone Deficiency PRK054
Prokr2-Related Isolated Gonadotropin-Releasing Hormone Deficiency PRK053
Prolactin Producing Pituitary Tumor PRL010
Prolapse of Female Genital Organ PRL015
Prolidase Deficiency PRL019 PD
Proliferating Trichilemmal Cyst PRL042
Proliferative Fasciitis PRL005
Proliferative Glomerulonephritis PRL003
Proliferative Type Fibrocystic Change of Breast PRL016
Proliferative Vasculopathy and Hydraencephaly-Hydrocephaly Syndrome PRL026 PVHH
Prolymphocytic Leukemia PRL017
Prom1-Related Retinitis Pigmentosa PRM085 RP41
Prop1-Related Combined Pituitary Hormone Deficiency PRP035
Properdin Deficiency PRP033
Properdin Deficiency, X-Linked PRP038 PFD
Propionicacidemia PRP084 PA-1
Propriospinal Myoclonus PRP068
Proprotein Convertase-1 Deficiency PRP039
Prosopagnosia PRS013
Prostate Adenocarcinoma PRS039
Prostate Adenoid Cystic Carcinoma PRS019
Prostate Calculus PRS007
Prostate Cancer PRS040 PC
Prostate Cancer 1 PRS116 HPC1
Prostate Cancer Susceptibility PRS126
Prostate Cancer, Hereditary, 10 PRS074
Prostate Cancer, Hereditary, 11 PRS117 HPC11
Prostate Cancer, Hereditary, 12 PRS070 HPC12
Prostate Cancer, Hereditary, 13 PRS071 HPC13
Prostate Cancer, Hereditary, 14 PRS075
Prostate Cancer, Hereditary, 15 PRS076
Prostate Cancer, Hereditary, 2 PRS114 HPC2
Prostate Cancer, Hereditary, 7 PRS080
Prostate Cancer, Hereditary, 9 PRS081
Prostate Cancer, Hereditary, X-Linked 2 PRS084
Prostate Cancer/brain Cancer Susceptibility, Somatic PRS121
Prostate Carcinoma in Situ PRS031
Prostate Disease PRS042
Prostate Embryonal Rhabdomyosarcoma PRS010
Prostate Leiomyoma PRS022
Prostate Leiomyosarcoma PRS032
Prostate Lymphoma PRS002
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 Hypertrophy PRS045
Prostatitis PRS047
Prosthetic Joint Infection PRS115 PJI
Protein C Deficiency PRT011
Protein S Deficiency PRT014
Protein-Deficiency Anemia PRT025
Protein-Energy Malnutrition PRT038 PEM
Protein-Losing Enteropathy PRT019
Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis PRT069 LMWPHN
Proteus Syndrome, Somatic PRT093 PROTEUSS
Proteus-Like Syndrome PRT063
Prothrombin-Related Thrombophilia PRT045
Protoplasmic Astrocytoma PRT005
Protoporphyria, Erythropoietic, Autosomal Recessive PRT103 EPP
Protoporphyria, Erythropoietic, X-Linked PRT094 XLDPT
Proud Syndrome PRD011 ACCAG
Proximal Myopathy and Ophthalmoplegia PRX075 MYPOP
Proximal Renal Tubular Acidosis PRX033 PRTA
Proximal Spinal Muscular Atrophy PRX014 SMA
Proximal Symphalangism PRX021
Prp Systemic Amyloidosis PRP089
Prpf3-Related Retinitis Pigmentosa PRP078 RP18
Prpf31-Related Retinitis Pigmentosa PRP042 RP11
Prpf4-Related Retinitis Pigmentosa PRP092
Prpf6-Related Retinitis Pigmentosa PRP043 RP60
Prpf8-Related Retinitis Pigmentosa PRP077 RP13
Prph2-Related Adult-Onset Vitelliform Macular Dystrophy PRP044
Prph2-Related Fundus Albipunctatus PRP046
Prph2-Related Retinitis Pigmentosa PRP047 RP7
Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5 PRP048
Prps1-Related Disorders PRP049
Prss1-Related Hereditary Pancreatitis PRS050
Prune Belly Syndrome PRN038 PBS
Prurigo Nodularis PRR013
Psammomatous Meningioma PSM001
Psen1-Related Dilated Cardiomyopathy PSN002
Psen2-Related Dilated Cardiomyopathy PSN003
Pseudo-Hurler Polydystrophy PSD100
Pseudo-Meigs Syndrome PSD084
Pseudo-Turner Syndrome PSD047
Pseudoachondroplasia PSD012 PSACH
Pseudoainhum PSD026
Pseudoarthrosis PSD086
Pseudobulbar Affect PSD088 PBA
Pseudobulbar Palsy PSD001
Pseudocholinesterase Deficiency PSD029 BCHE DEFICIENCY
Pseudodiastrophic Dysplasia PSD030
Pseudofolliculitis Barbae PSD078
Pseudohermaphroditism PSD009
Pseudohermaphroditism, Male, with Gynecomastia PSD097 MPH
Pseudohyperkalemia Cardiff PSD032 CHC
Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak PSD063 PSHK2
Pseudohypoaldosteronism PSD003
Pseudohypoaldosteronism Type I, Autosomal Dominant PSD096 PHA1A
Pseudohypoaldosteronism, Type I PSD095 PHA1B
Pseudohypoaldosteronism, Type Iia PSD090
Pseudohypoaldosteronism, Type Iib PSD094 PHA2B
Pseudohypoaldosteronism, Type Iic PSD068 PHA2C
Pseudohypoaldosteronism, Type Iid PSD093 PHA2D
Pseudohypoaldosteronism, Type Iie PSD092 PHA2E
Pseudohypoparathyroidism PSD015
Pseudohypoparathyroidism Ia PSD067 AHO
Pseudohypoparathyroidism Ic PSD058 PHP1C
Pseudohypoparathyroidism, Type Ib PSD066 PHP1B
Pseudohypoparathyroidism, Type Ii PSD104 PHP2
Pseudoinflammatory Fundus Dystrophy PSD036
Pseudomembranous Conjunctivitis PSD004
Pseudomyotonia PSD040
Pseudomyxoma Peritonei PSD007 PMP
Pseudopapilledema PSD008
Pseudopseudohypoparathyroidism PSD014 PPHP
Pseudopterygium PSD006
Pseudosarcomatous Fibromatosis PSD016
Pseudovaginal Perineoscrotal Hypospadias PSD021 MCRPENS
Pseudoxanthoma Elasticum PSD087 PXE
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
Pseudoxanthoma Elasticum, Forme Fruste PSD050
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis PSD083
Psoriasis PSR002
Psoriasis 14, Pustular PSR021 PSORS14
Psoriasis 15, Pustular PSR022 PSORS15
Psoriasis 2 PSR017 PSORS2
Psoriasis Susceptibility 1 PSR004 PSORS1
Psoriasis Susceptibility 13 PSR019 PSORS13
Psoriasis, Protection Against PSR005 PSORS7
Psoriatic Arthritis PSR001 PSORAS
Psoriatic Juvenile Idiopathic Arthritis PSR016
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism PSY014 PMRED
Psychosexual Disorder PSY003
Psychotic Disorder PSY004
Ptch1-Related Holoprosencephaly PTC003 HPE7
Pten Hamartoma Tumor Syndrome PTN006 PHTS
Pth-Related Familial Isolated Hypoparathyroidism PTH004
Pthirus Pubis Infestation PTH001 CRABS
Ptosis PTS002
Ptosis, Congenital PTS008
Ptosis, Hereditary Congenital 2 PTS010
Ptpn11-Related Leopard Syndrome PTP001
Ptpn11-Related Noonan Syndrome PTP002
Pulmonary Alveolar Microlithiasis PLM017 PALM
Pulmonary Alveolar Proteinosis PLM006
Pulmonary Arteriovenous Malformation PLM052 PAVM
Pulmonary Artery Leiomyosarcoma PLM004
Pulmonary Aspergilloma PLM007
Pulmonary Blastoma PLM032
Pulmonary Disease, Chronic Obstructive PLM129 COPD
Pulmonary Edema PLM010
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, 3 PLM143 PFBMFT3
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 PLM141 PFBMFT4
Pulmonary Fibrosis, Familial PLM044
Pulmonary Fibrosis, Idiopathic PLM134 IPF
Pulmonary Fibrosis, Idiopathic Susceptibility PLM155
Pulmonary Hemosiderosis PLM085
Pulmonary Hypertension PLM037
Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis PLM101 CTEPH
Pulmonary Hypertension, Familial Primary, 1, with or Without Hht PLM122 PPH1
Pulmonary Hypertension, Neonatal PLM124 PHN
Pulmonary Hypertension, Primary, 2 PLM128 PPH2
Pulmonary Hypertension, Primary, 3 PLM127 PPH3
Pulmonary Hypertension, Primary, 4 PLM121 PPH4
Pulmonary Immaturity PLM013
Pulmonary Large Cell Neuroendocrine Carcinoma PLM038
Pulmonary Neuroendocrine Tumor PLM039
Pulmonary Plasma Cell Granuloma PLM002
Pulmonary Sarcoidosis PLM012
Pulmonary Sclerosing Hemangioma PLM018
Pulmonary Sequestration PLM064
Pulmonary Subvalvular Stenosis PLM008
Pulmonary Surfactant Metabolism Dysfunction PLM071
Pulmonary Systemic Sclerosis PLM015
Pulmonary Tuberculosis PLM001 PTB
Pulmonary Valve Disease PLM040
Pulmonary Valve Insufficiency PLM022
Pulmonary Valve Stenosis PLM041
Pulmonary Vein Stenosis PLM068
Pulmonary Venoocclusive Disease PLM025 PVOD
Pulmonary Venoocclusive Disease 1 PLM130 PVOD1
Pulmonary Venoocclusive Disease 2 PLM132 PVOD2
Pulmonic Stenosis PLM070
Pulp Degeneration PLP002
Pulpitis PLP001
Pulsating Exophthalmos PLS001
Punctate Epithelial Keratoconjunctivitis PNC012
Punctate Inner Choroidopathy PNC059 PIC
Punctate Palmoplantar Keratoderma PNC113
Punctate Porokeratosis PNC060 PPPP
Pura-Related Neurodevelopmental Disorders PRR032
Pure Autonomic Failure PRT058 PAF
Pure Red-Cell Aplasia PRR002 PRCA
Purine-Pyrimidine Metabolic Disorder PRN024
Purpura PRP030
Purpura Fulminans PRP034
Purulent Acute Otitis Media PRL012
Purulent Endophthalmitis PRL018
Purulent Labyrinthitis PRL001
Pustular Psoriasis PST059
Pustulosis of Palm and Sole PST011
Pustulosis Palmaris Et Plantaris PST062 LPP
Pycnodysostosis PYC001 PKND
Pycr1-Related Cutis Laxa PYC002
Pyelitis PYL004
Pyelonephritis PYL005
Pyle Disease PYL017 PYL
Pyloric Stenosis PYL006
Pyloric Stenosis, Infantile Hypertrophic, 2 PYL008
Pyloric Stenosis, Infantile Hypertrophic, 3 PYL009
Pyloric Stenosis, Infantile Hypertrophic, 4 PYL010
Pyloric Stenosis, Infantile Hypertrophic, 5 PYL011
Pylorospasm PYL002
Pyoderma PYD002
Pyoderma Gangrenosum PYD001
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne PYG002 FRA
Pyogenic Granuloma PYG006
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne PYG003 PAPAS
Pyometritis PYM002
Pyomyositis PYM001 PM
Pyosalpinx PYS001
Pyridoxal 5'-Phosphate-Dependent Epilepsy PYR015
Pyridoxamine 5'-Phosphate Oxidase Deficiency PYR024 PNPOD
Pyridoxine Deficiency PYR016
Pyridoxine-Responsive Sideroblastic Anemia PYR006
Pyriform Sinus Cancer PYR008
Pyrimidine Metabolic Disorder PYR035
Pyromania PYR003
Pyropoikilocytosis PYR011 HPP
Pyruvate Carboxylase Deficiency PYR037 PC DEFICIENCY
Pyruvate Carboxylase Deficiency, Benign Type PYR032
Pyruvate Carboxylase Deficiency, Infantile Form PYR036
Pyruvate Carboxylase Deficiency, Severe Neonatal Type PYR034
Pyruvate Dehydrogenase E1-Alpha Deficiency PYR022 PDHAD
Pyruvate Dehydrogenase E1-Beta Deficiency PYR012 PDHBD
Pyruvate Dehydrogenase E2 Deficiency PYR025 PDHE2 DEFICIENCY
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency PYR030 HGCLAS
Pyruvate Dehydrogenase Phosphatase Deficiency PYR018 PDP DEFICIENCY
Pyruvate Kinase Deficiency PYR013 PKRD
Pyuria PYR004
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