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 |
|