OMIM ID | Human Disease |
OMIM:600356 |
Pachydermodactyly, Familial
|
OMIM:610279 |
Pachygyria, Frontotemporal
|
OMIM:600176 |
Pachygyria with Impaired Intellectual Development, Seizures, and Arachnoid Cysts
|
OMIM:167200 |
Pachyonychia Congenita 1; PC1
|
OMIM:167210 |
Pachyonychia Congenita 2; PC2
|
OMIM:615726 |
Pachyonychia Congenita 3; PC3
|
OMIM:615728 |
Pachyonychia Congenita 4; PC4
|
OMIM:260130 |
Pachyonychia Congenita, Autosomal Recessive
|
OMIM:167220 |
Pacman Dysplasia
|
OMIM:301025 |
Paganini-Miozzo Syndrome; MRXSPM
|
OMIM:167300 |
Paget Disease, Extramammary
|
OMIM:602080 |
Paget Disease of Bone 2, Early-Onset; PDB2
|
OMIM:167250 |
Paget Disease of Bone 3; PDB3
|
OMIM:606263 |
Paget Disease of Bone 4; PDB4
|
OMIM:239000 |
Paget Disease of Bone 5, Juvenile-Onset; PDB5
|
OMIM:616833 |
Paget Disease of Bone 6; PDB6
|
OMIM:202660 |
PAGOD Syndrome
|
OMIM:311400 |
Paine Syndrome
|
OMIM:618377 |
Pain Sensitivity Quantitative Trait Locus 1; PAINQTL1
|
OMIM:260150 |
Palant Cleft Palate Syndrome
|
OMIM:167500 |
Palatopharyngeal Incompetence
|
OMIM:260200 |
Pallidal Degeneration, Progressive, with Retinitis Pigmentosa
|
OMIM:241800 |
Pallister-Hall-Like Syndrome; PHLS
|
OMIM:146510 |
Pallister-Hall Syndrome; PHS
|
OMIM:601803 |
Pallister-Killian Syndrome; PKS
|
OMIM:311450 |
Pallister W Syndrome
|
OMIM:167600 |
Palmaris Longus Muscle, Absence of
|
OMIM:615225 |
Palmoplantar Carcinoma, Multiple Self-Healing; MSPC
|
OMIM:610644 |
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal
|
OMIM:104100 |
Palmoplantar Keratoderma and Congenital Alopecia 1; PPKCA1
|
OMIM:212360 |
Palmoplantar Keratoderma and Congenital Alopecia 2; PPKCA2
|
OMIM:616099 |
Palmoplantar Keratoderma and Woolly Hair; PPKWH
|
OMIM:600231 |
Palmoplantar Keratoderma, Bothnian Type; PPKB
|
OMIM:144200 |
Palmoplantar Keratoderma, Epidermolytic, 1; EPPK1
|
OMIM:620411 |
Palmoplantar Keratoderma, Epidermolytic, 2; EPPK2
|
OMIM:148700 |
Palmoplantar Keratoderma I, Striate, Focal, or Diffuse; PPKS1
|
OMIM:615598 |
Palmoplantar Keratoderma, Nagashima Type; PPKN
|
OMIM:613000 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1; FNEPPK1
|
OMIM:616400 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2; FNEPPK2
|
OMIM:615735 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse; PPKNEFD
|
OMIM:600962 |
Palmoplantar Keratoderma, Nonepidermolytic; NEPPK
|
OMIM:148600 |
Palmoplantar Keratoderma, Punctate Type IA; PPKP1A
|
OMIM:614936 |
Palmoplantar Keratoderma, Punctate Type IB; PPKP1B
|
OMIM:101850 |
Palmoplantar Keratoderma, Punctate Type III; PPKP3
|
OMIM:175860 |
Palmoplantar Keratoderma, Punctate Type II; PPKP2
|
OMIM:604809 |
Panbronchiolitis, Diffuse
|
OMIM:167750 |
Pancreas, Annular
|
OMIM:167755 |
Pancreas, Dorsal, Agenesis of
|
OMIM:260370 |
Pancreatic Agenesis 1; PAGEN1
|
OMIM:615935 |
Pancreatic Agenesis 2; PAGEN2
|
OMIM:620991 |
Pancreatic Agenesis 3; PAGEN3
|
OMIM:609069 |
Pancreatic and Cerebellar Agenesis; PACA
|
OMIM:600089 |
Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus
|
OMIM:260350 |
Pancreatic Cancer
|
OMIM:606856 |
Pancreatic Cancer, Susceptibility to, 1
|
OMIM:613347 |
Pancreatic Cancer, Susceptibility to, 2
|
OMIM:613348 |
Pancreatic Cancer, Susceptibility to, 3
|
OMIM:614320 |
Pancreatic Cancer, Susceptibility to, 4; PNCA4
|
OMIM:618680 |
Pancreatic Cancer, Susceptibility to, 5; PNCA5
|
OMIM:614338 |
Pancreatic Lipase Deficiency; PNLIPD
|
OMIM:602596 |
Pancreatic Lymphoma, Familial
|
OMIM:167800 |
Pancreatitis, Hereditary; PCTT
|
OMIM:260480 |
Pancreatitis, Sclerosing Cholangitis, and Sicca Complex
|
OMIM:167850 |
Pancytopenia and Occlusive Vascular Disease
|
OMIM:312000 |
Panhypopituitarism, X-Linked; PHPX
|
OMIM:167870 |
Panic Disorder 1; PAND1
|
OMIM:607853 |
Panic Disorder 2; PAND2
|
OMIM:609985 |
Panic Disorder 3; PAND3
|
OMIM:603744 |
Papillary Thyroid Microcarcinoma
|
OMIM:260500 |
Papilloma of Choroid Plexus; CPP
|
OMIM:167900 |
Papillomatosis, Confluent and Reticulated; CARP
|
OMIM:167950 |
Papillomatosis, Florid, of Nipple
|
OMIM:245000 |
Papillon-Lefevre Syndrome; PALS
|
OMIM:120330 |
Papillorenal Syndrome; PAPRS
|
OMIM:260100 |
Pa Polymorphism of Alpha-2-Globulin
|
OMIM:606864 |
Paraganglioma and Gastric Stromal Sarcoma
|
OMIM:168100 |
Paralysis Agitans, Juvenile, of Hunt
|
OMIM:168200 |
Paramolar Tubercle of Bolk
|
OMIM:168300 |
Paramyotonia Congenita; PMC
|
OMIM:260530 |
Parana Hard-Skin Syndrome
|
OMIM:168820 |
Paraoxonase 1; PON1
|
OMIM:606840 |
Parasomnia, Sleep Bruxism Type; PSMNSB
|
OMIM:613938 |
Parasomnia, Sleepwalking Type; PSMNSW
|
OMIM:168400 |
Parastremmatic Dwarfism
|
OMIM:608266 |
Parathyroid Carcinoma
|
OMIM:600331 |
PARC Syndrome
|
OMIM:619873 |
Parenti-Mignot Neurodevelopmental Syndrome; PMNDS
|
OMIM:168500 |
Parietal Foramina 1; PFM1
|
OMIM:609597 |
Parietal Foramina 2; PFM2
|
OMIM:609566 |
Parietal Foramina 3; PFM3
|
OMIM:168550 |
Parietal Foramina with Cleidocranial Dysplasia; PFMCCD
|
OMIM:260540 |
Parkinson-Dementia Syndrome
|
OMIM:606852 |
Parkinson Disease 10; PARK10
|
OMIM:607688 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To; PARK11
|
OMIM:300557 |
Parkinson Disease 12; PARK12
|
OMIM:610297 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To; PARK13
|
OMIM:612953 |
Parkinson Disease 14, Autosomal Recessive; PARK14
|
OMIM:260300 |
Parkinson Disease 15, Autosomal Recessive Early-Onset; PARK15
|
OMIM:613164 |
Parkinson Disease 16; PARK16
|
OMIM:614203 |
Parkinson Disease 17; PARK17
|
OMIM:614251 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To; PARK18
|
OMIM:615528 |
Parkinson Disease 19a, Juvenile-Onset; PARK19A
|
OMIM:168601 |
Parkinson Disease 1, Autosomal Dominant; PARK1
|
OMIM:615530 |
Parkinson Disease 20, Early-Onset; PARK20
|
OMIM:616361 |
Parkinson Disease 21; PARK21
|
OMIM:616710 |
Parkinson Disease 22, Autosomal Dominant; PARK22
|
OMIM:616840 |
Parkinson Disease 23, Autosomal Recessive Early-Onset; PARK23
|
OMIM:619491 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To; PARK24
|
OMIM:620482 |
Parkinson Disease 25, Autosomal Recessive Early-Onset, with Impaired Intellectual Development; PARK25
|
OMIM:620923 |
Parkinson Disease 26, Autosomal Dominant, Susceptibility To; PARK26
|
OMIM:600116 |
Parkinson Disease 2, Autosomal Recessive Juvenile; PARK2
|
OMIM:602404 |
Parkinson Disease 3, Autosomal Dominant; PARK3
|
OMIM:605543 |
Parkinson Disease 4, Autosomal Dominant; PARK4
|
OMIM:613643 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To; PARK5
|
OMIM:605909 |
Parkinson Disease 6, Autosomal Recessive Early-Onset; PARK6
|
OMIM:606324 |
Parkinson Disease 7, Autosomal Recessive Early-Onset; PARK7
|
OMIM:607060 |
Parkinson Disease 8, Autosomal Dominant; PARK8
|
OMIM:168600 |
Parkinson Disease, Late-Onset; PD
|
OMIM:556500 |
Parkinson Disease, Mitochondrial
|
OMIM:613135 |
Parkinsonism-Dystonia 1, Infantile-Onset; PKDYS1
|
OMIM:618049 |
Parkinsonism-Dystonia 2, Infantile-Onset; PKDYS2
|
OMIM:619738 |
Parkinsonism-Dystonia 3, Childhood-Onset; PKDYS3
|
OMIM:619279 |
Parkinsonism with Polyneuropathy; PKNPY
|
OMIM:300911 |
Parkinsonism with Spasticity, X-Linked; XPDS
|
OMIM:168800 |
Parotidomegaly, Hereditary Bilateral
|
OMIM:600343 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of; PDDP
|
OMIM:603588 |
Parotitis, Juvenile Recurrent
|
OMIM:167400 |
Paroxysmal Extreme Pain Disorder; PEXPD
|
OMIM:300818 |
Paroxysmal Nocturnal Hemoglobinuria 1; PNH1
|
OMIM:615399 |
Paroxysmal Nocturnal Hemoglobinuria 2; PNH2
|
OMIM:118800 |
Paroxysmal Nonkinesigenic Dyskinesia 1; PNKD1
|
OMIM:611147 |
Paroxysmal Nonkinesigenic Dyskinesia 2; PNKD2
|
OMIM:609446 |
Paroxysmal Nonkinesigenic Dyskinesia 3 with or without Generalized Epilepsy; PNKD3
|
OMIM:606177 |
Pars Planitis
|
OMIM:260555 |
Partington-Anderson Syndrome
|
OMIM:309510 |
Partington Syndrome; PRTS
|
OMIM:168830 |
Passovoy Factor Defect
|
OMIM:168860 |
Patella Aplasia-Hypoplasia; PTLAH
|
OMIM:168900 |
Patella, Chondromalacia of
|
OMIM:169000 |
Patella, Familial Recurrent Dislocation of
|
OMIM:607411 |
Patent Ductus Arteriosus 1; PDA1
|
OMIM:617035 |
Patent Ductus Arteriosus 2; PDA2
|
OMIM:617039 |
Patent Ductus Arteriosus 3; PDA3
|
OMIM:604381 |
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
|
OMIM:601466 |
Patent Ductus Venosus; PDV
|
OMIM:169170 |
Patterson Pseudoleprechaunism Syndrome
|
OMIM:557000 |
Pearson Marrow-Pancreas Syndrome
|
OMIM:169200 |
Pechet Factor Deficiency
|
OMIM:169300 |
Pectus Excavatum
|
OMIM:600399 |
Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails
|
OMIM:270300 |
Peeling Skin Syndrome 1; PSS1
|
OMIM:609796 |
Peeling Skin Syndrome 2; PSS2
|
OMIM:616265 |
Peeling Skin Syndrome 3; PSS3
|
OMIM:607936 |
Peeling Skin Syndrome 4; PSS4
|
OMIM:617115 |
Peeling Skin Syndrome 5; PSS5
|
OMIM:618084 |
Peeling Skin Syndrome 6; PSS6
|
OMIM:616295 |
Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads; PLACK
|
OMIM:617507 |
Peho-Like Syndrome; PEHOL
|
OMIM:260565 |
Peho Syndrome; PEHO
|
OMIM:169400 |
Pelger-Huet Anomaly; PHA
|
OMIM:312080 |
Pelizaeus-Merzbacher Disease; PMD
|
OMIM:260650 |
Pellagra-Like Syndrome
|
OMIM:602484 |
Pelvic Hypoplasia with Lower-Limb Arthrogryposis
|
OMIM:169545 |
Pelvic Lipomatosis with Crossed Renal Ectopia
|
OMIM:176780 |
Pelvic Organ Prolapse, Susceptibility to
|
OMIM:613088 |
Pelvic Organ Prolapse, Susceptibility to, 2
|
OMIM:169550 |
Pelvis-Shoulder Dysplasia
|
OMIM:169610 |
Pemphigus Vulgaris, Familial
|
OMIM:274600 |
Pendred Syndrome; PDS
|
OMIM:260800 |
Pentosuria; PNTSU
|
OMIM:169710 |
Pepsinogen 3, Group I; PGA3
|
OMIM:617055 |
Perching Syndrome; PERCHING
|
OMIM:260900 |
Pericardial Effusion, Chronic
|
OMIM:260910 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
|
OMIM:142680 |
Periodic Fever, Familial, Autosomal Dominant; FPF
|
OMIM:150550 |
Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome;
|
OMIM:614674 |
Periodic Fever, Menstrual Cycle-Dependent
|
OMIM:170650 |
Periodontitis, Aggressive, 1
|
OMIM:608526 |
Periodontitis, Aggressive, 2
|
OMIM:260950 |
Periodontitis, Chronic
|
OMIM:611650 |
Peripapillary Atrophy, Beta Type; PPAB
|
OMIM:614670 |
Peripartum Cardiomyopathy, Susceptibility to
|
OMIM:606787 |
Peripheral Arterial Occlusive Disease 1
|
OMIM:609021 |
Peripheral Cone Dystrophy
|
OMIM:609136 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease; PCWH
|
OMIM:170700 |
Peripheral Dysostosis
|
OMIM:619903 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive;
|
OMIM:260970 |
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
|
OMIM:618124 |
Peripheral Neuropathy, Autosomal Recessive, with or without Impaired Intellectual Development; PNRIID
|
OMIM:614369 |
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss; PNMHH
|
OMIM:616539 |
Peripheral Neuropathy with Variable Spasticity, Exercise Intolerance, and Developmental Delay; PNSED
|
OMIM:608097 |
Periventricular Heterotopia with Microcephaly, Autosomal Recessive;
|
OMIM:300049 |
Periventricular Nodular Heterotopia 1; PVNH1
|
OMIM:608098 |
Periventricular Nodular Heterotopia 3; PVNH3
|
OMIM:615544 |
Periventricular Nodular Heterotopia 6; PVNH6
|
OMIM:617201 |
Periventricular Nodular Heterotopia 7; PVNH7
|
OMIM:618185 |
Periventricular Nodular Heterotopia 8; PVNH8
|
OMIM:618918 |
Periventricular Nodular Heterotopia 9; PVNH9
|
OMIM:267000 |
Perlman Syndrome; PRLMNS
|
OMIM:157950 |
Permanent Molars, Secondary Retention of
|
OMIM:170900 |
Pernicious Anemia
|
OMIM:170980 |
Peroneal Nerve, Accessory Deep
|
OMIM:261400 |
Peroneus Tertius Muscle, Absence of
|
OMIM:170990 |
Peroxidase, Salivary; SAPX
|
OMIM:264470 |
Peroxisomal Acyl-Coa Oxidase Deficiency
|
OMIM:616154 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder; PFCRD
|
OMIM:614882 |
Peroxisome Biogenesis Disorder 10a (zellweger); PBD10A
|
OMIM:617370 |
Peroxisome Biogenesis Disorder 10b; PBD10B
|
OMIM:614883 |
Peroxisome Biogenesis Disorder 11a (zellweger); PBD11A
|
OMIM:614885 |
Peroxisome Biogenesis Disorder 11b; PBD11B
|
OMIM:614886 |
Peroxisome Biogenesis Disorder 12a (zellweger); PBD12A
|
OMIM:614887 |
Peroxisome Biogenesis Disorder 13a (zellweger); PBD13A
|
OMIM:614920 |
Peroxisome Biogenesis Disorder 14b; PEX14B
|
OMIM:214100 |
Peroxisome Biogenesis Disorder 1a (zellweger); PBD1A
|
OMIM:601539 |
Peroxisome Biogenesis Disorder 1B; PBD1B
|
OMIM:214110 |
Peroxisome Biogenesis Disorder 2A (zellweger); PBD2A
|
OMIM:202370 |
Peroxisome Biogenesis Disorder 2B; PBD2B
|
OMIM:614859 |
Peroxisome Biogenesis Disorder 3a (zellweger); PBD3A
|
OMIM:266510 |
Peroxisome Biogenesis Disorder 3b; PBD3B
|
OMIM:614862 |
Peroxisome Biogenesis Disorder 4a (zellweger); PBD4A
|
OMIM:614863 |
Peroxisome Biogenesis Disorder 4b; PBD4B
|
OMIM:614866 |
Peroxisome Biogenesis Disorder 5a (zellweger); PBD5A
|
OMIM:614867 |
Peroxisome Biogenesis Disorder 5b; PBD5B
|
OMIM:614870 |
Peroxisome Biogenesis Disorder 6a (zellweger); PBD6A
|
OMIM:614871 |
Peroxisome Biogenesis Disorder 6b; PBD6B
|
OMIM:614872 |
Peroxisome Biogenesis Disorder 7a (zellweger); PBD7A
|
OMIM:614873 |
Peroxisome Biogenesis Disorder 7b; PBD7B
|
OMIM:614876 |
Peroxisome Biogenesis Disorder 8a (zellweger); PBD8A
|
OMIM:614877 |
Peroxisome Biogenesis Disorder 8b; PBD8B
|
OMIM:614879 |
Peroxisome Biogenesis Disorder 9b; PBD9B
|
OMIM:233400 |
Perrault Syndrome 1; PRLTS1
|
OMIM:614926 |
Perrault Syndrome 2; PRLTS2
|
OMIM:614129 |
Perrault Syndrome 3; PRLTS3
|
OMIM:615300 |
Perrault Syndrome 4; PRLTS4
|
OMIM:616138 |
Perrault Syndrome 5; PRLTS5
|
OMIM:617565 |
Perrault Syndrome 6; PRLTS6
|
OMIM:168605 |
Perry Syndrome
|
OMIM:611308 |
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant; PHPVAD
|
OMIM:221900 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive; PHPVAR
|
OMIM:261550 |
Persistent Mullerian Duct Syndrome, Types I and II; PMDS
|
OMIM:606445 |
Persistent Polyclonal B-Cell Lymphocytosis; PPBL
|
OMIM:261540 |
Peters-Plus Syndrome; PTRPLS
|
OMIM:304340 |
Pettigrew Syndrome; PGS
|
OMIM:175200 |
Peutz-Jeghers Syndrome; PJS
|
OMIM:171000 |
Peyronie Disease
|
OMIM:261560 |
Pfeiffer-Palm-Teller Syndrome
|
OMIM:101600 |
Pfeiffer Syndrome
|
OMIM:606519 |
Phace Association
|
OMIM:171100 |
Phagocytosis, Plasma-Related Defect in
|
OMIM:261575 |
Phaver Syndrome
|
OMIM:606232 |
Phelan-Mcdermid Syndrome; PHMDS
|
OMIM:261590 |
Phenformin 4-Hydroxylation
|
OMIM:261600 |
Phenylketonuria; PKU
|
OMIM:617955 |
Phenytoin Toxicity
|
OMIM:171300 |
Pheochromocytoma
|
OMIM:171420 |
Pheochromocytoma--Islet Cell Tumor Syndrome
|
OMIM:168000 |
Pheochromocytoma/Paraganglioma Syndrome 1; PPGL1
|
OMIM:601650 |
Pheochromocytoma/Paraganglioma Syndrome 2; PPGL2
|
OMIM:605373 |
Pheochromocytoma/Paraganglioma Syndrome 3; PPGL3
|
OMIM:115310 |
Pheochromocytoma/Paraganglioma Syndrome 4; PPGL4
|
OMIM:614165 |
Pheochromocytoma/Paraganglioma Syndrome 5; PPGL5
|
OMIM:618464 |
Pheochromocytoma/Paraganglioma Syndrome 6; PPGL6
|
OMIM:618475 |
Pheochromocytoma/Paraganglioma Syndrome 7; PPGL7
|
OMIM:171450 |
Phlebectasia of Lips
|
OMIM:614441 |
Phoar2-Enteropathy Syndrome; PHOAR2E
|
OMIM:608251 |
Phobia, Specific
|
OMIM:171480 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia
|
OMIM:171660 |
Phosphatase, Acid, of Tissues
|
OMIM:261680 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic; PCKDC
|
OMIM:261650 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial; PCKDM
|
OMIM:172110 |
Phosphoglucomutase 4
|
OMIM:601815 |
Phosphoglycerate Dehydrogenase Deficiency; PHGDHD
|
OMIM:300653 |
Phosphoglycerate Kinase 1 Deficiency
|
OMIM:172290 |
Phosphoglycoprotein 1; PGP1
|
OMIM:615011 |
Phosphohydroxylysinuria; PHLU
|
OMIM:619859 |
Phosphoribosylaminoimidazole Carboxylase Deficiency; PAICSD
|
OMIM:300661 |
Phosphoribosylpyrophosphate Synthetase Superactivity
|
OMIM:610992 |
Phosphoserine Aminotransferase Deficiency; PSATD
|
OMIM:614023 |
Phosphoserine Phosphatase Deficiency; PSPHD
|
OMIM:172500 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction
|
OMIM:132100 |
Photoparoxysmal Response 1; PPR1
|
OMIM:609572 |
Photoparoxysmal Response 2; PPR2
|
OMIM:609573 |
Photoparoxysmal Response 3; PPR3
|
OMIM:172700 |
Pick Disease of Brain
|
OMIM:172800 |
Piebald Trait; PBT
|
OMIM:172850 |
Piebald Trait with Neurologic Defects
|
OMIM:602342 |
Pierpont Syndrome; PRPTS
|
OMIM:311895 |
Pierre Robin Sequence with Facial and Digital Anomalies
|
OMIM:602196 |
Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies
|
OMIM:172880 |
Pierre Robin Syndrome and Oligodactyly
|
OMIM:261800 |
Pierre Robin Syndrome; PRBNS
|
OMIM:609049 |
Pierson Syndrome; PIERS
|
OMIM:301220 |
Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked; PDR
|
OMIM:610489 |
Pigmented Nodular Adrenocortical Disease, Primary, 1; PPNAD1
|
OMIM:610475 |
Pigmented Nodular Adrenocortical Disease, Primary, 2; PPNAD2
|
OMIM:614190 |
Pigmented Nodular Adrenocortical Disease, Primary, 3; PPNAD3
|
OMIM:615830 |
Pigmented Nodular Adrenocortical Disease, Primary, 4; PPNAD4
|
OMIM:172870 |
Pigmented Paravenous Chorioretinal Atrophy; PPCRA
|
OMIM:172900 |
Pigmented Purpuric Eruption
|
OMIM:617682 |
Pilarowski-Bjornsson Syndrome; PILBOS
|
OMIM:261900 |
Pili Torti, Early-Onset
|
OMIM:262020 |
Pilodental Dysplasia with Refractive Errors
|
OMIM:132600 |
Pilomatrixoma
|
OMIM:173000 |
Pilonidal Sinus
|
OMIM:262190 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities
|
OMIM:610042 |
Pitt-Hopkins-Like Syndrome 1; PTHSL1
|
OMIM:614325 |
Pitt-Hopkins-Like Syndrome 2; PTHSL2
|
OMIM:610954 |
Pitt-Hopkins Syndrome; PTHS
|
OMIM:102200 |
Pituitary Adenoma 1, Multiple Types; PITA1
|
OMIM:300943 |
Pituitary Adenoma 2, Growth Hormone-Secreting; PITA2
|
OMIM:617686 |
Pituitary Adenoma 3, Multiple Types; PITA3
|
OMIM:219090 |
Pituitary Adenoma 4, Acth-Secreting; PITA4
|
OMIM:617540 |
Pituitary Adenoma 5, Multiple Types; PITA5
|
OMIM:262710 |
Pituitary Dwarfism with Large Sella Turcica
|
OMIM:262600 |
Pituitary Hormone Deficiency, Combined, 2; CPHD2
|
OMIM:221750 |
Pituitary Hormone Deficiency, Combined, 3; CPHD3
|
OMIM:262700 |
Pituitary Hormone Deficiency, Combined, 4; CPHD4
|
OMIM:613986 |
Pituitary Hormone Deficiency, Combined, 6; CPHD6
|
OMIM:613038 |
Pituitary Hormone Deficiency, Combined or Isolated, 1; CPHD1
|
OMIM:618160 |
Pituitary Hormone Deficiency, Combined or Isolated, 7; CPHD7
|
OMIM:620303 |
Pituitary Hormone Deficiency, Combined or Isolated, 8; CPHD8
|
OMIM:173200 |
Pityriasis Rubra Pilaris; PRP
|
OMIM:262800 |
Plasma Clot Retraction Factor, Deficiency of
|
OMIM:614101 |
Plasma Fibronectin Deficiency
|
OMIM:613329 |
Plasminogen Activator Inhibitor-1 Deficiency
|
OMIM:217090 |
Plasminogen Deficiency, Type I
|
OMIM:248310 |
Plasmodium Falciparum Blood Infection Level
|
OMIM:611384 |
Plasmodium Falciparum Fever Episodes Quantitative Trait Locus 1
|
OMIM:614278 |
Platelet-Activating Factor Acetylhydrolase Deficiency; PAFAD
|
OMIM:173395 |
Platelet Adenylate Cyclase Activity
|
OMIM:173400 |
Platelet Aggregation, Spontaneous
|
OMIM:601399 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy; FPDMM
|
OMIM:173420 |
Platelet Disorder, Undefined
|
OMIM:173450 |
Platelet Factor 3 Deficiency
|
OMIM:608404 |
Platelet Glycoprotein IV Deficiency
|
OMIM:173500 |
Platelet Groups--Ko System; HPA-2
|
OMIM:173560 |
Platelet Membrane Fluidity; PMF
|
OMIM:262875 |
Platelet Prostacyclin Receptor Defect
|
OMIM:173580 |
Platelet Responsiveness to Adrenaline, Depressed
|
OMIM:173590 |
Platelet Signal Processing Defect
|
OMIM:151210 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type; PLSDT
|
OMIM:262900 |
Pleoconial Myopathy with Salt Craving
|
OMIM:601200 |
Pleuropulmonary Blastoma; PPB
|
OMIM:173600 |
Pneumothorax, Primary Spontaneous; PSP
|
OMIM:614590 |
Podoconiosis, Susceptibility To; PDCOS
|
OMIM:615704 |
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis; POIKTMP
|
OMIM:173700 |
Poikiloderma, Hereditary Sclerosing
|
OMIM:604173 |
Poikiloderma with Neutropenia; PN
|
OMIM:618732 |
Poirier-Bienvenu Neurodevelopmental Syndrome; POBINDS
|
OMIM:173800 |
Poland Syndrome
|
OMIM:604771 |
Polycystic Bone Disease
|
OMIM:263100 |
Polycystic Kidney, Cataract, and Congenital Blindness
|
OMIM:173900 |
Polycystic Kidney Disease 1 with or without Polycystic Liver Disease;
|
OMIM:613095 |
Polycystic Kidney Disease 2 with or without Polycystic Liver Disease;
|
OMIM:600666 |
Polycystic Kidney Disease 3 with or without Polycystic Liver Disease;
|
OMIM:263200 |
Polycystic Kidney Disease 4 with or without Polycystic Liver Disease;
|
OMIM:617610 |
Polycystic Kidney Disease 5; PKD5
|
OMIM:618061 |
Polycystic Kidney Disease 6 with or without Polycystic Liver Disease;
|
OMIM:620056 |
Polycystic Kidney Disease 7; PKD7
|
OMIM:620903 |
Polycystic Kidney Disease 8; PKD8
|
OMIM:600273 |
Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis;
|
OMIM:221770 |
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1; PLOSL1
|
OMIM:618193 |
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2; PLOSL2
|
OMIM:174050 |
Polycystic Liver Disease 1 with or without Kidney Cysts; PCLD1
|
OMIM:617004 |
Polycystic Liver Disease 2 with or without Kidney Cysts; PCLD2
|
OMIM:617874 |
Polycystic Liver Disease 3 with or without Kidney Cysts; PCLD3
|
OMIM:617875 |
Polycystic Liver Disease 4 with or without Kidney Cysts; PCLD4
|
OMIM:219600 |
Polycystic Lung Disease; PCLUD
|
OMIM:184700 |
Polycystic Ovary Syndrome 1; PCOS1
|
OMIM:263300 |
Polycythemia Vera; PV
|
OMIM:603596 |
Polydactyly
|
OMIM:620712 |
Polydactyly-Macrocephaly Syndrome; PDMCS
|
OMIM:618498 |
Polydactyly, Postaxial, Type A10; PAPA10
|
OMIM:174200 |
Polydactyly, Postaxial, Type A1; PAPA1
|
OMIM:602085 |
Polydactyly, Postaxial, Type A2; PAPA2
|
OMIM:607324 |
Polydactyly, Postaxial, Type A3; PAPA3
|
OMIM:608562 |
Polydactyly, Postaxial, Type A4
|
OMIM:263450 |
Polydactyly, Postaxial, Type A5; PAPA5
|
OMIM:615226 |
Polydactyly, Postaxial, Type A6; PAPA6
|
OMIM:617642 |
Polydactyly, Postaxial, Type A7; PAPA7
|
OMIM:618123 |
Polydactyly, Postaxial, Type A8; PAPA8
|
OMIM:618219 |
Polydactyly, Postaxial, Type A9; PAPA9
|
OMIM:263540 |
Polydactyly, Postaxial, with Dental and Vertebral Anomalies
|
OMIM:174310 |
Polydactyly, Postaxial, with Progressive Myopia
|
OMIM:174600 |
Polydactyly, Preaxial III; PPD3
|
OMIM:174500 |
Polydactyly, Preaxial II; PPD2
|
OMIM:174400 |
Polydactyly, Preaxial I; PPD1
|
OMIM:174700 |
Polydactyly, Preaxial IV; PPD4
|
OMIM:616113 |
Polyendocrine-Polyneuropathy Syndrome; PEPNS
|
OMIM:615895 |
Polyglucosan Body Myopathy 1 with or without Immunodeficiency; PGBM1
|
OMIM:616199 |
Polyglucosan Body Myopathy 2; PGBM2
|
OMIM:263570 |
Polyglucosan Body Neuropathy, Adult Form; APBN
|
OMIM:263610 |
Polyhydramnios, Chronic Idiopathic
|
OMIM:611087 |
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy; PMSE
|
OMIM:300388 |
Polymicrogyria, Bilateral Perisylvian, X-Linked; BPPX
|
OMIM:612691 |
Polymicrogyria, Bilateral Temporooccipital; BTOP
|
OMIM:618343 |
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome;
|
OMIM:263550 |
Polymyoclonus, Infantile
|
OMIM:612674 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract; PHARC
|
OMIM:604431 |
Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive
|
OMIM:610830 |
Polyosteolysis-Hyperostosis Syndrome
|
OMIM:175400 |
Polyposis, Intestinal, Scattered and Discrete
|
OMIM:175450 |
Polyposis, Intestinal, with Multiple Exostoses
|
OMIM:175500 |
Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes
|
OMIM:601228 |
Polyposis Syndrome, Hereditary Mixed, 1; HMPS1
|
OMIM:610069 |
Polyposis Syndrome, Hereditary Mixed, 2; HMPS2
|
OMIM:263600 |
Polysaccharide, Storage of Unusual
|
OMIM:606581 |
Polysubstance Abuse, Susceptibility To; PSAB
|
OMIM:175690 |
Polysyndactyly, Crossed
|
OMIM:263630 |
Polysyndactyly with Cardiac Malformation
|
OMIM:232300 |
Pompe Disease
|
OMIM:614688 |
Pontine Tegmental Cap Dysplasia; PTCD
|
OMIM:618810 |
Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal; PHRINL
|
OMIM:615803 |
Pontocerebellar Hypoplasia, Type 10; PCH10
|
OMIM:617695 |
Pontocerebellar Hypoplasia, Type 11; PCH11
|
OMIM:618266 |
Pontocerebellar Hypoplasia, Type 12; PCH12
|
OMIM:618606 |
Pontocerebellar Hypoplasia, Type 13; PCH13
|
OMIM:619301 |
Pontocerebellar Hypoplasia, Type 14; PCH14
|
OMIM:619302 |
Pontocerebellar Hypoplasia, Type 15; PCH15
|
OMIM:619527 |
Pontocerebellar Hypoplasia, Type 16; PCH16
|
OMIM:619909 |
Pontocerebellar Hypoplasia, Type 17; PCH17
|
OMIM:607596 |
Pontocerebellar Hypoplasia, Type 1A; PCH1A
|
OMIM:614678 |
Pontocerebellar Hypoplasia, Type 1B; PCH1B
|
OMIM:616081 |
Pontocerebellar Hypoplasia, Type 1C; PCH1C
|
OMIM:618065 |
Pontocerebellar Hypoplasia, Type 1D; PCH1D
|
OMIM:619303 |
Pontocerebellar Hypoplasia, Type 1E; PCH1E
|
OMIM:619304 |
Pontocerebellar Hypoplasia, Type 1F; PCH1F
|
OMIM:277470 |
Pontocerebellar Hypoplasia, Type 2A; PCH2A
|
OMIM:612389 |
Pontocerebellar Hypoplasia, Type 2B; PCH2B
|
OMIM:612390 |
Pontocerebellar Hypoplasia, Type 2c; PCH2C
|
OMIM:613811 |
Pontocerebellar Hypoplasia, Type 2D; PCH2D
|
OMIM:615851 |
Pontocerebellar Hypoplasia, Type 2E; PCH2E
|
OMIM:617026 |
Pontocerebellar Hypoplasia, Type 2F; PCH2F
|
OMIM:608027 |
Pontocerebellar Hypoplasia, Type 3; PCH3
|
OMIM:225753 |
Pontocerebellar Hypoplasia, Type 4; PCH4
|
OMIM:610204 |
Pontocerebellar Hypoplasia, Type 5; PCH5
|
OMIM:611523 |
Pontocerebellar Hypoplasia, Type 6; PCH6
|
OMIM:614969 |
Pontocerebellar Hypoplasia, Type 7; PCH7
|
OMIM:614961 |
Pontocerebellar Hypoplasia, Type 8; PCH8
|
OMIM:615809 |
Pontocerebellar Hypoplasia, Type 9; PCH9
|
OMIM:175750 |
Popliteal Cyst
|
OMIM:119500 |
Popliteal Pterygium Syndrome; PPS
|
OMIM:601322 |
Porencephaly, Cerebellar Hypoplasia, and Internal Malformations
|
OMIM:615960 |
Poretti-Boltshauser Syndrome; PTBHS
|
OMIM:175800 |
Porokeratosis 1, Multiple Types; POROK1
|
OMIM:175850 |
Porokeratosis 2, Palmar, Plantar, and Disseminated Type; POROK2
|
OMIM:175900 |
Porokeratosis 3, Multiple Types; POROK3
|
OMIM:607728 |
Porokeratosis 4, Disseminated Superficial Actinic Type; POROK4
|
OMIM:612293 |
Porokeratosis 5, Disseminated Superficial Actinic Type; POROK5
|
OMIM:612353 |
Porokeratosis 6, Multiple Types; POROK6
|
OMIM:614714 |
Porokeratosis 7, Multiple Types; POROK7
|
OMIM:616063 |
Porokeratosis 8, Disseminated Superficial Actinic Type; POROK8
|
OMIM:616631 |
Porokeratosis 9, Multiple Types; POROK9
|
OMIM:612740 |
Porphyria, Acute Hepatic
|
OMIM:176000 |
Porphyria, Acute Intermittent; AIP
|
OMIM:263700 |
Porphyria, Congenital Erythropoietic; CEP
|
OMIM:176100 |
Porphyria Cutanea Tarda
|
OMIM:176090 |
Porphyria Cutanea Tarda, Type I
|
OMIM:617068 |
Portal Hypertension, Noncirrhotic, 1; NCPH1
|
OMIM:619463 |
Portal Hypertension, Noncirrhotic, 2; NCPH2
|
OMIM:601004 |
Portal Vein, Cavernous Transformation of
|
OMIM:176240 |
Postaxial Oligodactyly, Tetramelic
|
OMIM:176250 |
Posterior Column Ataxia
|
OMIM:609033 |
Posterior Column Ataxia with Retinitis Pigmentosa; AXPC1
|
OMIM:610883 |
Potocki-Lupski Syndrome; PTLS
|
OMIM:601224 |
Potocki-Shaffer Syndrome
|
OMIM:264010 |
Prader-Willi Habitus, Osteopenia, and Camptodactyly
|
OMIM:176270 |
Prader-Willi Syndrome; PWS
|
OMIM:128700 |
Preauricular Fistulae, Congenital
|
OMIM:610420 |
Preauricular Tag, Isolated, Autosomal Dominant, 1
|
OMIM:176305 |
Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias
|
OMIM:601759 |
Preaxial Hallucal Polydactyly
|
OMIM:176400 |
Precocious Puberty, Central, 1; CPPB1
|
OMIM:615346 |
Precocious Puberty, Central, 2; CPPB2
|
OMIM:176410 |
Precocious Puberty, Male-Limited
|
OMIM:189800 |
Preeclampsia/Eclampsia 1; PEE1
|
OMIM:609402 |
Preeclampsia/Eclampsia 2; PEE2
|
OMIM:609403 |
Preeclampsia/Eclampsia 3; PEE3
|
OMIM:609404 |
Preeclampsia/Eclampsia 4; PEE4
|
OMIM:614595 |
Preeclampsia/Eclampsia 5; PEE5
|
OMIM:614389 |
Pregnancy Loss, Recurrent, Susceptibility to, 1; RPRGL1
|
OMIM:614390 |
Pregnancy Loss, Recurrent, Susceptibility to, 2; RPRGL2
|
OMIM:614391 |
Pregnancy Loss, Recurrent, Susceptibility to, 3; RPRGL3
|
OMIM:612423 |
Prekallikrein Deficiency; PKKD
|
OMIM:601811 |
Premature Aging Syndrome, Okamoto Type
|
OMIM:601812 |
Premature Aging Syndrome, Penttinen Type; PENTT
|
OMIM:212790 |
Premature Centromere Division; PCD
|
OMIM:176430 |
Premature Chromatid Separation Trait; PCS
|
OMIM:616946 |
Premature Ovarian Failure 11; POF11
|
OMIM:616947 |
Premature Ovarian Failure 12; POF12
|
OMIM:617442 |
Premature Ovarian Failure 13; POF13
|
OMIM:618014 |
Premature Ovarian Failure 14; POF14
|
OMIM:618096 |
Premature Ovarian Failure 15; POF15
|
OMIM:618723 |
Premature Ovarian Failure 16; POF16
|
OMIM:619146 |
Premature Ovarian Failure 17; POF17
|
OMIM:619203 |
Premature Ovarian Failure 18; POF18
|
OMIM:619245 |
Premature Ovarian Failure 19; POF19
|
OMIM:311360 |
Premature Ovarian Failure 1; POF1
|
OMIM:619938 |
Premature Ovarian Failure 20; POF20
|
OMIM:620311 |
Premature Ovarian Failure 21; POF21
|
OMIM:620548 |
Premature Ovarian Failure 22; POF22
|
OMIM:620686 |
Premature Ovarian Failure 23; POF23
|
OMIM:620840 |
Premature Ovarian Failure 24; POF24
|
OMIM:621002 |
Premature Ovarian Failure 25; POF25
|
OMIM:300511 |
Premature Ovarian Failure 2A; POF2A
|
OMIM:300604 |
Premature Ovarian Failure 2B; POF2B
|
OMIM:608996 |
Premature Ovarian Failure 3; POF3
|
OMIM:611548 |
Premature Ovarian Failure 5; POF5
|
OMIM:612310 |
Premature Ovarian Failure 6; POF6
|
OMIM:612964 |
Premature Ovarian Failure 7; POF7
|
OMIM:615723 |
Premature Ovarian Failure 8; POF8
|
OMIM:615724 |
Premature Ovarian Failure 9; POF9
|
OMIM:264050 |
Prenatal Bowing
|
OMIM:264060 |
Prepapillary Vascular Loops
|
OMIM:176600 |
Presenile Dementia, Kraepelin Type
|
OMIM:610504 |
Preterm Premature Rupture of the Membranes; PPROM
|
OMIM:176620 |
Priapism, Familial Idiopathic
|
OMIM:309610 |
Prieto Syndrome; PRS
|
OMIM:615474 |
Primary Aldosteronism, Seizures, and Neurologic Abnormalities; PASNA
|
OMIM:611637 |
Primary Lateral Sclerosis, Adult, 1; PLSA1
|
OMIM:606353 |
Primary Lateral Sclerosis, Juvenile; PLSJ
|
OMIM:176630 |
Primary Release Disorder of Platelets
|
OMIM:620005 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome; PDIL
|
OMIM:259050 |
Primrose Syndrome; PRIMS
|
OMIM:108980 |
Pr Interval, Variation in
|
OMIM:602249 |
Progeroid Facial Appearance with Hand Anomalies
|
OMIM:176690 |
Progeroid Short Stature with Pigmented Nevi
|
OMIM:264080 |
Progesterone Resistance
|
OMIM:176700 |
Prognathism, Mandibular
|
OMIM:157640 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 1; PEOA1
|
OMIM:609283 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 2; PEOA2
|
OMIM:609286 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3; PEOA3
|
OMIM:610131 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 4; PEOA4
|
OMIM:613077 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 5; PEOA5
|
OMIM:615156 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 6; PEOA6
|
OMIM:258450 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 1; PEOB1
|
OMIM:616479 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 2; PEOB2
|
OMIM:617069 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 3; PEOB3
|
OMIM:617070 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 4; PEOB4
|
OMIM:618098 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 5; PEOB5
|
OMIM:620647 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 6; PEOB6
|
OMIM:113900 |
Progressive Familial Heart Block, Type IA; PFHB1A
|
OMIM:604559 |
Progressive Familial Heart Block, Type IB; PFHB1B
|
OMIM:140400 |
Progressive Familial Heart Block, Type II; PFHB2
|
OMIM:208230 |
Progressive Pseudorheumatoid Dysplasia; PPRD
|
OMIM:264110 |
Prolactin Deficiency, Isolated
|
OMIM:264120 |
Prolactin Deficiency with Obesity and Enlarged Testes
|
OMIM:170100 |
Prolidase Deficiency
|
OMIM:225790 |
Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome;
|
OMIM:608415 |
Prolonged Electroretinal Response Suppression 1; PERRS1
|
OMIM:620344 |
Prolonged Electroretinal Response Suppression 2; PERRS2
|
OMIM:176800 |
Pronation-Supination of the Forearm, Impairment of
|
OMIM:312060 |
Properdin Deficiency, X-Linked; CFPD
|
OMIM:606054 |
Propionic Acidemia
|
OMIM:600955 |
Proprotein Convertase 1/3 Deficiency
|
OMIM:610382 |
Prosopagnosia, Hereditary
|
OMIM:176807 |
Prostate Cancer
|
OMIM:607592 |
Prostate Cancer Aggressiveness Quantitative Trait Locus on Chromosome 19
|
OMIM:603688 |
Prostate Cancer/Brain Cancer Susceptibility
|
OMIM:611100 |
Prostate Cancer, Hereditary, 10; HPC10
|
OMIM:611955 |
Prostate Cancer, Hereditary, 11; HPC11
|
OMIM:611868 |
Prostate Cancer, Hereditary, 12; HPC12
|
OMIM:611928 |
Prostate Cancer, Hereditary, 13; HPC13
|
OMIM:611958 |
Prostate Cancer, Hereditary, 14; HPC14
|
OMIM:611959 |
Prostate Cancer, Hereditary, 15; HPC15
|
OMIM:601518 |
Prostate Cancer, Hereditary, 1; HPC1
|
OMIM:614731 |
Prostate Cancer, Hereditary, 2; HPC2
|
OMIM:608656 |
Prostate Cancer, Hereditary, 3
|
OMIM:608658 |
Prostate Cancer, Hereditary, 4
|
OMIM:609299 |
Prostate Cancer, Hereditary, 5; HPC5
|
OMIM:609558 |
Prostate Cancer, Hereditary, 6
|
OMIM:610321 |
Prostate Cancer, Hereditary, 7; HPC7
|
OMIM:602759 |
Prostate Cancer, Hereditary, 8; HPC8
|
OMIM:610997 |
Prostate Cancer, Hereditary, 9; HPC9
|
OMIM:300147 |
Prostate Cancer, Hereditary, X-Linked 1; HPCX1
|
OMIM:300704 |
Prostate Cancer, Hereditary, X-Linked 2; HPCX2
|
OMIM:301120 |
Prostate Cancer, Hereditary, X-Linked 3; HPCX3
|
OMIM:600082 |
Prostatic Hyperplasia, Benign; BPH
|
OMIM:256040 |
Proteasome-Associated Autoinflammatory Syndrome 1; PRAAS1
|
OMIM:618048 |
Proteasome-Associated Autoinflammatory Syndrome 2; PRAAS2
|
OMIM:617591 |
Proteasome-Associated Autoinflammatory Syndrome 3; PRAAS3
|
OMIM:619183 |
Proteasome-Associated Autoinflammatory Syndrome 4; PRAAS4
|
OMIM:619175 |
Proteasome-Associated Autoinflammatory Syndrome 5; PRAAS5
|
OMIM:620796 |
Proteasome-Associated Autoinflammatory Syndrome 6; PRAAS6
|
OMIM:618884 |
Proteinuria, Chronic Benign; PROCHOB
|
OMIM:308990 |
Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis
|
OMIM:614024 |
Protein Z Deficiency
|
OMIM:176900 |
Proteolytic Capacity of Plasma
|
OMIM:176920 |
Proteus Syndrome
|
OMIM:613679 |
Prothrombin Deficiency, Congenital
|
OMIM:600931 |
Protocadherin 3
|
OMIM:177000 |
Protoporphyria, Erythropoietic, 1; EPP1
|
OMIM:618015 |
Protoporphyria, Erythropoietic, 2; EPP2
|
OMIM:300752 |
Protoporphyria, Erythropoietic, X-Linked; XLEPP
|
OMIM:177050 |
Protrusio Acetabuli
|
OMIM:600706 |
Proximal Myopathy with Focal Depletion of Mitochondria
|
OMIM:604278 |
Proximal Renal Tubular Acidosis-Ocular Anomaly Syndrome; PRTAO
|
OMIM:100100 |
Prune Belly Syndrome; PBS
|
OMIM:264140 |
Prune Belly Syndrome with Pulmonic Stenosis, Impaired Intellectual Development, and Deafness
|
OMIM:178995 |
Pruritic Urticarial Papules and Plaques of Pregnancy; PUPPP
|
OMIM:177100 |
Pruritus, Hereditary Localized
|
OMIM:177170 |
Pseudoachondroplasia; PSACH
|
OMIM:602511 |
Pseudoacromegaly with Severe Insulin Resistance
|
OMIM:177300 |
Pseudoarthrogryposis
|
OMIM:177350 |
Pseudoatrophoderma Colli
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OMIM:177600 |
Pseudocholinesterase, Increase in Plasma Level of
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OMIM:264180 |
Pseudodiastrophic Dysplasia; PDD
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OMIM:612318 |
Pseudofolliculitis Barbae
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OMIM:264270 |
Pseudohermaphroditism, Female, with Skeletal Anomalies
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OMIM:609153 |
Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak; PSHK2
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OMIM:177735 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant; PHA1A
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OMIM:264350 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive; PHA1B1
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OMIM:620125 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive; PHA1B2
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OMIM:620126 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive; PHA1B3
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OMIM:145260 |
Pseudohypoaldosteronism, Type IIA; PHA2A
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OMIM:614491 |
Pseudohypoaldosteronism, Type IIB; PHA2B
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OMIM:614492 |
Pseudohypoaldosteronism, Type IIC; PHA2C
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OMIM:614495 |
Pseudohypoaldosteronism, Type Iid; PHA2D
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OMIM:614496 |
Pseudohypoaldosteronism, Type Iie; PHA2E
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OMIM:103580 |
Pseudohypoparathyroidism, Type IA; PHP1A
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OMIM:603233 |
Pseudohypoparathyroidism, Type IB; PHP1B
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OMIM:612462 |
Pseudohypoparathyroidism, Type Ic; PHP1C
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OMIM:203330 |
Pseudohypoparathyroidism, Type II; PHP2
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OMIM:177750 |
Pseudomonilethrix
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OMIM:177800 |
Pseudopapilledema
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OMIM:264475 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies
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OMIM:613241 |
Pseudopili Annulati
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OMIM:612463 |
Pseudopseudohypoparathyroidism; PPHP
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OMIM:251290 |
Pseudo-Torch Syndrome 1; PTORCH1
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OMIM:617397 |
Pseudo-Torch Syndrome 2; PTORCH2
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OMIM:618886 |
Pseudo-Torch Syndrome 3; PTORCH3
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OMIM:264480 |
Pseudotrisomy 13 Syndrome
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OMIM:264500 |
Pseudouridinuria and Mental Defect
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OMIM:264600 |
Pseudovaginal Perineoscrotal Hypospadias; PPSH
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OMIM:177850 |
Pseudoxanthoma Elasticum, Forme Fruste
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OMIM:610842 |
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency
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OMIM:264800 |
Pseudoxanthoma Elasticum; PXE
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OMIM:612410 |
Psoriasis 10, Susceptibility To; PSORS10
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OMIM:612599 |
Psoriasis 11, Susceptibility To; PSORS11
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OMIM:612950 |
Psoriasis 12, Susceptibility To; PSORS12
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OMIM:614070 |
Psoriasis 13, Susceptibility To; PSORS13
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OMIM:614204 |
Psoriasis 14, Pustular; PSORS14
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OMIM:616106 |
Psoriasis 15, Pustular, Susceptibility To; PSORS15
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OMIM:177900 |
Psoriasis 1, Susceptibility To; PSORS1
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OMIM:602723 |
Psoriasis 2; PSORS2
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OMIM:601454 |
Psoriasis 3, Susceptibility To; PSORS3
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OMIM:603935 |
Psoriasis 4, Susceptibility To; PSORS4
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OMIM:604316 |
Psoriasis 5, Susceptibility To; PSORS5
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OMIM:605364 |
Psoriasis 6, Susceptibility To; PSORS6
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OMIM:605606 |
Psoriasis 7, Susceptibility To; PSORS7
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OMIM:610707 |
Psoriasis 8, Susceptibility To; PSORS8
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OMIM:607857 |
Psoriasis 9, Susceptibility To; PSORS9
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OMIM:607507 |
Psoriatic Arthritis, Susceptibility to
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OMIM:177980 |
Pterygia, Impaired Intellectual Development, and Distinctive Craniofacial Features
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OMIM:178200 |
Pterygium, Antecubital
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OMIM:600159 |
Pterygium Colli and Impaired Intellectual Development with Facial and Digital Anomalies
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OMIM:177990 |
Pterygium Colli, Isolated
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OMIM:178000 |
Pterygium of Conjunctiva and Cornea
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OMIM:178300 |
Ptosis, Hereditary Congenital 1; PTOS1
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OMIM:300245 |
Ptosis, Hereditary Congenital 2
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OMIM:178330 |
Ptosis, Strabismus, and Ectopic Pupils
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OMIM:178350 |
Pubic Bone Dysplasia
|
OMIM:600096 |
Puerto Rican Infant Hypotonia Syndrome
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OMIM:265100 |
Pulmonary Alveolar Microlithiasis; PULAM
|
OMIM:610910 |
Pulmonary Alveolar Proteinosis, Acquired
|
OMIM:265140 |
Pulmonary Arteriovenous Fistulas
|
OMIM:265150 |
Pulmonary Atresia with Intact Ventricular Septum
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OMIM:178370 |
Pulmonary Atresia with Ventricular Septal Defect
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OMIM:265200 |
Pulmonary Bullae Causing Pneumothorax
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OMIM:606963 |
Pulmonary Disease, Chronic Obstructive; COPD
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OMIM:178400 |
Pulmonary Edema of Mountaineers, Susceptibility to
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OMIM:614742 |
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1; PFBMFT1
|
OMIM:614743 |
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2; PFBMFT2
|
OMIM:616373 |
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3; PFBMFT3
|
OMIM:616371 |
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4; PFBMFT4
|
OMIM:618674 |
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5; PFBMFT5
|
OMIM:619767 |
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6; PFBMFT6
|
OMIM:620365 |
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7; PFBMFT7
|
OMIM:620367 |
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8; PFBMFT8
|
OMIM:620400 |
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9; PFBMFT9
|
OMIM:608852 |
Pulmonary Function
|
OMIM:178550 |
Pulmonary Hemosiderosis
|
OMIM:612862 |
Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis, Susceptibility to
|
OMIM:615371 |
Pulmonary Hypertension, Neonatal, Susceptibility To; PHN
|
OMIM:178600 |
Pulmonary Hypertension, Primary, 1; PPH1
|
OMIM:615342 |
Pulmonary Hypertension, Primary, 2; PPH2
|
OMIM:615343 |
Pulmonary Hypertension, Primary, 3; PPH3
|
OMIM:615344 |
Pulmonary Hypertension, Primary, 4; PPH4
|
OMIM:265400 |
Pulmonary Hypertension, Primary, 5; PPH5
|
OMIM:620777 |
Pulmonary Hypertension, Primary, 6; PPH6
|
OMIM:265430 |
Pulmonary Hypoplasia, Primary
|
OMIM:178610 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial
|
OMIM:265450 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant; PVOD1
|
OMIM:234810 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive; PVOD2
|
OMIM:265500 |
Pulmonic Stenosis
|
OMIM:265600 |
Pulmonic Stenosis and Congenital Nephrosis
|
OMIM:178651 |
Pulmonic Stenosis and Deafness
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OMIM:178650 |
Pulmonic Stenosis, Atrial Septal Defect, and Unique Electrocardiographic Abnormalities
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OMIM:178800 |
Pupil, Egg-Shaped
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OMIM:178900 |
Pupillary Membrane, Persistence of
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OMIM:613179 |
Purine Nucleoside Phosphorylase Deficiency
|
OMIM:179000 |
Purpura Simplex
|
OMIM:265800 |
Pycnodysostosis
|
OMIM:265850 |
Pygmy
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OMIM:265880 |
Pyknoachondrogenesis
|
OMIM:265900 |
Pyle Disease; PYL
|
OMIM:265950 |
Pyloric Atresia
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OMIM:179010 |
Pyloric Stenosis, Infantile Hypertrophic, 1; IHPS1
|
OMIM:610260 |
Pyloric Stenosis, Infantile Hypertrophic, 2; IHPS2
|
OMIM:612017 |
Pyloric Stenosis, Infantile Hypertrophic, 3; IHPS3
|
OMIM:300711 |
Pyloric Stenosis, Infantile Hypertrophic, 4; IHPS4
|
OMIM:612525 |
Pyloric Stenosis, Infantile Hypertrophic, 5; IHPS5
|
OMIM:604416 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne; PAPA
|
OMIM:610090 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency; PNPOD
|
OMIM:266140 |
Pyropoikilocytosis, Hereditary; HPP
|
OMIM:266150 |
Pyruvate Carboxylase Deficiency
|
OMIM:312170 |
Pyruvate Dehydrogenase E1-Alpha Deficiency; PDHAD
|
OMIM:614111 |
Pyruvate Dehydrogenase E1-Beta Deficiency; PDHBD
|
OMIM:245348 |
Pyruvate Dehydrogenase E2 Deficiency; PDHDD
|
OMIM:245349 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency; PDHXD
|
OMIM:608782 |
Pyruvate Dehydrogenase Phosphatase Deficiency; PDHPD
|