| OMIM ID |
Human Disease |
| 600356 |
Pachydermodactyly, Familial |
| 610279 |
Pachygyria, Frontotemporal |
| 600176 |
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts |
| 260130 |
Pachyonychia Congenita, Autosomal Recessive |
| 167200 |
Pachyonychia Congenita, Type 1; PC1 |
| 167210 |
Pachyonychia Congenita, Type 2; PC2 (1 mouse model) |
| 167220 |
Pacman Dysplasia |
| 167300 |
Paget Disease, Extramammary |
| 239000 |
Paget Disease, Juvenile |
| 167250 |
Paget Disease of Bone 1; PDB1 |
| 606263 |
Paget Disease of Bone 4; PDB4 |
| 602080 |
Paget Disease of Bone; PDB (3 mouse models) |
| 202660 |
PAGOD Syndrome |
| 311400 |
Paine Syndrome |
| 602669 |
Paired-Like Homeodomain Transcription Factor 3; PITX3 |
| 260150 |
Palant Cleft Palate Syndrome |
| 167500 |
Palatopharyngeal Incompetence |
| 260200 |
Pallidal Degeneration, Progressive, with Retinitis Pigmentosa |
| 146510 |
Pallister-Hall Syndrome; PHS (1 mouse model) |
| 601803 |
Pallister-Killian Syndrome; PKS |
| 311450 |
Pallister W Syndrome |
| 167600 |
Palmaris Longus Muscle, Absence of |
| 167700 |
Palmomental Reflex |
| 610644 |
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal |
| 104100 |
Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant |
| 212360 |
Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Recessive |
| 600231 |
Palmoplantar Keratoderma, Bothnian Type; PPKB |
| 144200 |
Palmoplantar Keratoderma, Epidermolytic; EPPK |
| 614594 |
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques |
| 613000 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal; FNEPPK (1 mouse model) |
| 600962 |
Palmoplantar Keratoderma, Nonepidermolytic; NEPPK |
| 167730 |
Palpebral Coloboma-Lipoma Syndrome |
| 604809 |
Panbronchiolitis, Diffuse |
| 167750 |
Pancreas, Annular (3 mouse models) |
| 167755 |
Pancreas, Dorsal, Agenesis of |
| 600001 |
Pancreatic Agenesis and Congenital Heart Defects; PACHD |
| 260370 |
Pancreatic Agenesis, Congenital; PAGEN |
| 609069 |
Pancreatic and Cerebellar Agenesis; PACA |
| 600089 |
Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus |
| 260350 |
Pancreatic Cancer (23 mouse models) |
| 606856 |
Pancreatic Cancer, Susceptibility to, 1 |
| 613347 |
Pancreatic Cancer, Susceptibility to, 2 |
| 613348 |
Pancreatic Cancer, Susceptibility to, 3 |
| 614320 |
Pancreatic Cancer, Susceptibility to, 4; PNCA4 |
| 601346 |
Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or without Tracheoesophageal Fistula |
| 260450 |
Pancreatic Insufficiency, Combined Exocrine (1 mouse model) |
| 614338 |
Pancreatic Lipase Deficiency; PNLIPD |
| 602596 |
Pancreatic Lymphoma, Familial |
| 167800 |
Pancreatitis, Hereditary; PCTT (1 mouse model) |
| 260480 |
Pancreatitis, Sclerosing Cholangitis, and Sicca Complex |
| 167850 |
Pancytopenia and Occlusive Vascular Disease |
| 260470 |
Panencephalitis, Subacute Sclerosing |
| 312000 |
Panhypopituitarism, X-Linked; PHPX |
| 167870 |
Panic Disorder 1; PAND1 |
| 607853 |
Panic Disorder 2 |
| 609985 |
Panic Disorder 3 |
| 603744 |
Papillary Thyroid Microcarcinoma |
| 260500 |
Papilloma of Choroid Plexus |
| 167900 |
Papillomatosis, Confluent and Reticulated; CARP |
| 167950 |
Papillomatosis, Florid, of Nipple |
| 245000 |
Papillon-Lefevre Syndrome; PALS |
| 120330 |
Papillorenal Syndrome (6 mouse models) |
| 260100 |
Pa Polymorphism of Alpha-2-Globulin |
| 606864 |
Paraganglioma and Gastric Stromal Sarcoma |
| 168000 |
Paragangliomas 1; PGL1 |
| 601650 |
Paragangliomas 2; PGL2 |
| 605373 |
Paragangliomas 3; PGL3 |
| 115310 |
Paragangliomas 4; PGL4 |
| 614165 |
Paragangliomas 5; PGL5 |
| 168100 |
Paralysis Agitans, Juvenile, of Hunt |
| 168200 |
Paramolar Tubercle of Bolk |
| 168300 |
Paramyotonia Congenita of Von Eulenburg; PMC |
| 260530 |
Parana Hard-Skin Syndrome |
| 168820 |
Paraoxonase 1; PON1 |
| 606840 |
Parasomnia, Sleep Bruxism Type; PSMNSB |
| 613938 |
Parasomnia, Sleepwalking Type; PSMNSW |
| 168400 |
Parastremmatic Dwarfism |
| 608266 |
Parathyroid Carcinoma |
| 168470 |
Parathyroid Hormone-Like Hormone; PTHLH |
| 600331 |
PARC Syndrome |
| 609597 |
Parietal Foramina 2; PFM2 |
| 609566 |
Parietal Foramina 3; PFM3 |
| 168500 |
Parietal Foramina; PFM (1 mouse model) |
| 168550 |
Parietal Foramina with Cleidocranial Dysplasia; PFMCCD |
| 608355 |
Parkes Weber Syndrome |
| 260540 |
Parkinson-Dementia Syndrome |
| 606852 |
Parkinson Disease 10; PARK10 |
| 607688 |
Parkinson Disease 11, Autosomal Dominant; PARK11 |
| 300557 |
Parkinson Disease 12; PARK12 |
| 610297 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To; PARK13 (3 mouse models) |
| 612953 |
Parkinson Disease 14, Autosomal Recessive; PARK14 |
| 260300 |
Parkinson Disease 15, Autosomal Recessive Early-Onset; PARK15 |
| 613164 |
Parkinson Disease 16; PARK16 |
| 614203 |
Parkinson Disease 17; PARK17 |
| 614251 |
Parkinson Disease 18; PARK18 |
| 168601 |
Parkinson Disease 1, Autosomal Dominant; PARK1 (14 mouse models) |
| 600116 |
Parkinson Disease 2, Autosomal Recessive Juvenile; PARK2 (10 mouse models) |
| 602404 |
Parkinson Disease 3, Autosomal Dominant; PARK3 (1 mouse model) |
| 605543 |
Parkinson Disease 4, Autosomal Dominant; PARK4 |
| 613643 |
Parkinson Disease 5, Autosomal Dominant; PARK5 (1 mouse model) |
| 605909 |
Parkinson Disease 6, Autosomal Recessive Early-Onset; PARK6 (3 mouse models) |
| 606324 |
Parkinson Disease 7, Autosomal Recessive Early-Onset; PARK7 (3 mouse models) |
| 607060 |
Parkinson Disease 8, Autosomal Dominant; PARK8 (2 mouse models) |
| 168600 |
Parkinson Disease, Late-Onset; PD (8 mouse models) |
| 556500 |
Parkinson Disease, Mitochondrial (2 mouse models) |
| 613135 |
Parkinsonism-Dystonia, Infantile; PKDYS |
| 311510 |
Parkinsonism, Early-Onset, with Mental Retardation |
| 168800 |
Parotidomegaly, Hereditary Bilateral |
| 600343 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of; PDDP |
| 603588 |
Parotitis, Juvenile Recurrent |
| 167400 |
Paroxysmal Extreme Pain Disorder |
| 300818 |
Paroxysmal Nocturnal Hemoglobinuria; PNH (1 mouse model) |
| 118800 |
Paroxysmal Nonkinesigenic Dyskinesia 1; PNKD1 (2 mouse models) |
| 611147 |
Paroxysmal Nonkinesigenic Dyskinesia 2; PNKD2 |
| 168885 |
Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia |
| 606177 |
Pars Planitis |
| 260555 |
Partington-Anderson Syndrome |
| 309510 |
Partington X-Linked Mental Retardation Syndrome; PRTS |
| 168830 |
Passovoy Factor Defect |
| 168850 |
Patella Aplasia, Coxa Vara, and Tarsal Synostosis |
| 168860 |
Patella Aplasia-Hypoplasia; PTLAH |
| 168900 |
Patella, Chondromalacia of |
| 169000 |
Patella, Familial Recurrent Dislocation of |
| 607411 |
Patent Ductus Arteriosus (7 mouse models) |
| 604381 |
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies |
| 601466 |
Patent Ductus Venosus; PDV |
| 169150 |
Patterned Dystrophy of Retinal Pigment Epithelium |
| 169170 |
Patterson Pseudoleprechaunism Syndrome |
| 557000 |
Pearson Marrow-Pancreas Syndrome |
| 169200 |
Pechet Factor Deficiency |
| 169300 |
Pectus Excavatum |
| 600399 |
Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails |
| 270300 |
Peeling Skin Syndrome |
| 609796 |
Peeling Skin Syndrome, Acral Type |
| 260565 |
PEHO Syndrome |
| 169400 |
Pelger-Huet Anomaly; PHA (1 mouse model) |
| 260570 |
Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain |
| 312080 |
Pelizaeus-Merzbacher Disease; PMD (6 mouse models) |
| 260650 |
Pellagra-Like Syndrome |
| 602484 |
Pelvic Hypoplasia with Lower-Limb Arthrogryposis |
| 169545 |
Pelvic Lipomatosis with Crossed Renal Ectopia |
| 176780 |
Pelvic Organ Prolapse, Susceptibility to |
| 613088 |
Pelvic Organ Prolapse, Susceptibility to, 2 |
| 169550 |
Pelvis-Shoulder Dysplasia |
| 169610 |
Pemphigus Vulgaris, Familial (3 mouse models) |
| 274600 |
Pendred Syndrome; PDS (4 mouse models) |
| 260800 |
Pentosuria |
| 600781 |
Peptide Yy; PYY |
| 260900 |
Pericardial Effusion, Chronic |
| 260910 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
| 142680 |
Periodic Fever, Familial, Autosomal Dominant (2 mouse models) |
| 614674 |
Periodic Fever, Menstrual Cycle-Dependent |
| 170650 |
Periodontitis, Aggressive, 1 |
| 608526 |
Periodontitis, Aggressive, 2 (1 mouse model) |
| 260950 |
Periodontitis, Chronic |
| 611650 |
Peripapillary Atrophy, Beta Type; PPAB |
| 614670 |
Peripartum Cardiomyopathy, Susceptibility to |
| 606787 |
Peripheral Arterial Occlusive Disease 1 |
| 609021 |
Peripheral Cone Dystrophy |
| 609136 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease; PCWH (1 mouse model) |
| 170700 |
Peripheral Dysostosis |
| 260970 |
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain |
| 614369 |
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss; PNMHH |
| 267000 |
Perlman Syndrome; PRLMNS |
| 157950 |
Permanent Molars, Secondary Retention of |
| 170900 |
Pernicious Anemia |
| 170980 |
Peroneal Nerve, Accessory Deep |
| 261400 |
Peroneus Tertius Muscle, Absence of |
| 170990 |
Peroxidase, Salivary; SAPX |
| 264470 |
Peroxisomal Acyl-Coa Oxidase Deficiency (1 mouse model) |
| 614882 |
Peroxisome Biogenesis Disorder 10a (zellweger); PBD10A |
| 614883 |
Peroxisome Biogenesis Disorder 11a (zellweger); PBD11A |
| 614885 |
Peroxisome Biogenesis Disorder 11b; PBD11B (1 mouse model) |
| 614886 |
Peroxisome Biogenesis Disorder 12a (zellweger); PBD12A |
| 614887 |
Peroxisome Biogenesis Disorder 13a (zellweger); PBD13A |
| 614920 |
Peroxisome Biogenesis Disorder 14b; PEX14B |
| 214100 |
Peroxisome Biogenesis Disorder 1a (zellweger); PBD1A |
| 601539 |
Peroxisome Biogenesis Disorder 1B; PBD1B |
| 214110 |
Peroxisome Biogenesis Disorder 2A (zellweger); PBD2A (1 mouse model) |
| 202370 |
Peroxisome Biogenesis Disorder 2B; PBD2B |
| 614859 |
Peroxisome Biogenesis Disorder 3a (zellweger); PBD3A |
| 266510 |
Peroxisome Biogenesis Disorder 3b; PBD3B |
| 614862 |
Peroxisome Biogenesis Disorder 4a (zellweger); PBD4A |
| 614863 |
Peroxisome Biogenesis Disorder 4b; PBD4B |
| 614866 |
Peroxisome Biogenesis Disorder 5a (zellweger); PBD5A (2 mouse models) |
| 614867 |
Peroxisome Biogenesis Disorder 5b; PBD5B |
| 614870 |
Peroxisome Biogenesis Disorder 6a (zellweger); PBD6A |
| 614871 |
Peroxisome Biogenesis Disorder 6b; PBD6B |
| 614872 |
Peroxisome Biogenesis Disorder 7a (zellweger); PBD7A |
| 614873 |
Peroxisome Biogenesis Disorder 7b; PBD7B |
| 614876 |
Peroxisome Biogenesis Disorder 8a (zellweger); PBD8A |
| 614877 |
Peroxisome Biogenesis Disorder 8b; PBD8B |
| 614879 |
Peroxisome Biogenesis Disorder 9b; PBD9B |
| 170998 |
Peroxisome Proliferator-Activated Receptor-Alpha; PPARA |
| 233400 |
Perrault Syndrome 1; PRLTS1 |
| 614926 |
Perrault Syndrome 2; PRLTS2 |
| 168605 |
Perry Syndrome |
| 611308 |
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant |
| 611311 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
| 261550 |
Persistent Mullerian Duct Syndrome, Types I and II; PMDS |
| 606445 |
Persistent Polyclonal B-Cell Lymphocytosis |
| 604229 |
Peters Anomaly (9 mouse models) |
| 261540 |
Peters-Plus Syndrome |
| 175200 |
Peutz-Jeghers Syndrome; PJS (9 mouse models) |
| 171000 |
Peyronie Disease |
| 261560 |
Pfeiffer-Palm-Teller Syndrome |
| 101600 |
Pfeiffer Syndrome (2 mouse models) |
| 606519 |
Phace Association |
| 171100 |
Phagocytosis, Plasma-Related Defect in |
| 261575 |
Phaver Syndrome |
| 261590 |
Phenformin 4-Hydroxylation |
| 261600 |
Phenylketonuria; PKU (5 mouse models) |
| 171420 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
| 171300 |
Pheochromocytoma Pheochromocytoma, Susceptibility to (1 mouse model) |
| 171450 |
Phlebectasia of Lips |
| 608251 |
Phobia, Specific |
| 171480 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia |
| 171660 |
Phosphatase, Acid, of Tissues |
| 601728 |
Phosphatase and Tensin Homolog; PTEN |
| 261680 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
| 261650 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
| 172110 |
Phosphoglucomutase 4 |
| 601815 |
Phosphoglycerate Dehydrogenase Deficiency |
| 300653 |
Phosphoglycerate Kinase 1 Deficiency |
| 172290 |
Phosphoglycoprotein 1; PGP1 |
| 615011 |
Phosphohydroxylysinuria; PHLU |
| 600522 |
Phospholipase A2, Group Iva; PLA2G4A |
| 172425 |
Phospholipid Transfer Protein; PLTP |
| 300661 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
| 610992 |
Phosphoserine Aminotransferase Deficiency |
| 614023 |
Phosphoserine Phosphatase Deficiency; PSPHD |
| 172500 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction |
| 609572 |
Photoparoxysmal Response 2; PPR2 |
| 609573 |
Photoparoxysmal Response 3; PPR3 |
| 132100 |
Photoparoxysmal Response; PPR |
| 172700 |
Pick Disease of Brain |
| 172800 |
Piebald Trait; PBT |
| 172850 |
Piebald Trait with Neurologic Defects |
| 311895 |
Pierre Robin Sequence with Facial and Digital Anomalies |
| 602196 |
Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies |
| 261800 |
Pierre Robin Syndrome (2 mouse models) |
| 172880 |
Pierre Robin Syndrome and Oligodactyly |
| 609049 |
Pierson Syndrome (2 mouse models) |
| 301220 |
Pigmentary Disorder, Reticulate, with Systemic Manifestations; PDR |
| 610489 |
Pigmented Nodular Adrenocortical Disease, Primary, 1; PPNAD1 (1 mouse model) |
| 610475 |
Pigmented Nodular Adrenocortical Disease, Primary, 2; PPNAD2 |
| 614190 |
Pigmented Nodular Adrenocortical Disease, Primary, 3; PPNAD3 |
| 172870 |
Pigmented Paravenous Chorioretinal Atrophy; PPCRA |
| 172900 |
Pigmented Purpuric Eruption |
| 261990 |
Pili Torti and Developmental Delay |
| 261900 |
Pili Torti, Early-Onset |
| 262020 |
Pilodental Dysplasia with Refractive Errors |
| 132600 |
Pilomatrixoma |
| 173000 |
Pilonidal Sinus |
| 262190 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities |
| 614325 |
Pitt-Hopkins-Like Syndrome 2; PTHSL2 |
| 610954 |
Pitt-Hopkins Syndrome; PTHS |
| 219090 |
Pituitary Adenoma, Acth-Secreting |
| 102200 |
Pituitary Adenoma, Growth Hormone-Secreting (1 mouse model) |
| 600634 |
Pituitary Adenoma, Prolactin-Secreting (1 mouse model) |
| 262710 |
Pituitary Dwarfism with Large Sella Turcica |
| 613038 |
Pituitary Hormone Deficiency, Combined, 1; CPHD1 |
| 262600 |
Pituitary Hormone Deficiency, Combined, 2; CPHD2 (4 mouse models) |
| 221750 |
Pituitary Hormone Deficiency, Combined, 3; CPHD3 (1 mouse model) |
| 262700 |
Pituitary Hormone Deficiency, Combined, 4; CPHD4 |
| 613986 |
Pituitary Hormone Deficiency, Combined, 6; CPHD6 |
| 173200 |
Pityriasis Rubra Pilaris; PRP |
| 602342 |
Plantar Lipomatosis, Unusual Facies, and Developmental Delay |
| 262800 |
Plasma Clot Retraction Factor, Deficiency of |
| 614101 |
Plasma Fibronectin Deficiency |
| 613329 |
Plasminogen Activator Inhibitor-1 Deficiency |
| 217090 |
Plasminogen Deficiency, Type I (1 mouse model) |
| 248310 |
Plasmodium Falciparum Blood Infection Level |
| 611384 |
Plasmodium Falciparum Fever Episodes Quantitative Trait Locus 1 |
| 614278 |
Platelet-Activating Factor Acetylhydrolase Deficiency; PAFAD |
| 173395 |
Platelet Adenylate Cyclase Activity |
| 173400 |
Platelet Aggregation, Spontaneous |
| 601399 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy |
| 173420 |
Platelet Disorder, Undefined |
| 173450 |
Platelet Factor 3 Deficiency |
| 608404 |
Platelet Glycoprotein IV Deficiency (1 mouse model) |
| 173540 |
Platelet Groups--Pl(e) System |
| 173560 |
Platelet Membrane Fluidity; PMF |
| 262875 |
Platelet Prostacyclin Receptor Defect |
| 173580 |
Platelet Responsiveness to Adrenaline, Depressed |
| 173590 |
Platelet Signal Processing Defect |
| 151210 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type; PLSDT (1 mouse model) |
| 601216 |
Platyspondyly with Amelogenesis Imperfecta |
| 262900 |
Pleoconial Myopathy with Salt Craving |
| 601200 |
Pleuropulmonary Blastoma; PPB |
| 173600 |
Pneumothorax, Primary Spontaneous |
| 614590 |
Podoconiosis, Susceptibility To; PDCOS |
| 173700 |
Poikiloderma, Hereditary Sclerosing |
| 604173 |
Poikiloderma with Neutropenia; PN |
| 173800 |
Poland Syndrome |
| 604771 |
Polycystic Bone Disease |
| 263100 |
Polycystic Kidney, Cataract, and Congenital Blindness |
| 173900 |
Polycystic Kidney Disease 1; PKD1 (30 mouse models) |
| 613095 |
Polycystic Kidney Disease 2; PKD2 (7 mouse models) |
| 600666 |
Polycystic Kidney Disease 3, Autosomal Dominant; PKD3 |
| 263200 |
Polycystic Kidney Disease, Autosomal Recessive; ARPKD (28 mouse models) |
| 600273 |
Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis; |
| 263210 |
Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia |
| 221770 |
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy; (1 mouse model) |
| 174050 |
Polycystic Liver Disease; PCLD (2 mouse models) |
| 184700 |
Polycystic Ovary Syndrome 1; PCOS1 (1 mouse model) |
| 263300 |
Polycythemia Vera (6 mouse models) |
| 603596 |
Polydactyly |
| 174200 |
Polydactyly, Postaxial, Type A1; PAPA1 |
| 602085 |
Polydactyly, Postaxial, Type A2; PAPA2 |
| 607324 |
Polydactyly, Postaxial, Type A3 |
| 608562 |
Polydactyly, Postaxial, Type A4 |
| 263450 |
Polydactyly, Postaxial, Type A5; PAPA5 |
| 263540 |
Polydactyly, Postaxial, with Dental and Vertebral Anomalies |
| 174310 |
Polydactyly, Postaxial, with Progressive Myopia |
| 174400 |
Polydactyly, Preaxial I |
| 174600 |
Polydactyly, Preaxial III |
| 174500 |
Polydactyly, Preaxial II; PPD2 |
| 174700 |
Polydactyly, Preaxial IV |
| 263570 |
Polyglucosan Body Disease, Adult Form; APBD |
| 263610 |
Polyhydramnios, Chronic Idiopathic |
| 611087 |
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy; PMSE |
| 606854 |
Polymicrogyria, Bilateral Frontoparietal |
| 612691 |
Polymicrogyria, Bilateral Occipital |
| 300388 |
Polymicrogyria, Bilateral Perisylvian; BPP |
| 610031 |
Polymicrogyria, Symmetric or Asymmetric; PMGYSA |
| 613180 |
Polymicrogyria with Optic Nerve Hypoplasia |
| 614833 |
Polymicrogyria with Seizures; PMGYS |
| 263550 |
Polymyoclonus, Infantile |
| 612674 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract; |
| 604431 |
Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive |
| 610830 |
Polyosteolysis-Hyperostosis Syndrome |
| 175020 |
Polyposis, Gastric |
| 175400 |
Polyposis, Intestinal, Scattered and Discrete |
| 175450 |
Polyposis, Intestinal, with Multiple Exostoses |
| 175505 |
Polyposis of Gastric Fundus without Polyposis Coli |
| 175500 |
Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes |
| 601228 |
Polyposis Syndrome, Hereditary Mixed, 1; HMPS1 |
| 610069 |
Polyposis Syndrome, Hereditary Mixed, 2; HMPS2 |
| 175510 |
Polyps, Multiple and Recurrent Inflammatory Fibroid, Gastrointestinal |
| 263600 |
Polysaccharide, Storage of Unusual |
| 606581 |
Polysubstance Abuse, Susceptibility to |
| 175690 |
Polysyndactyly, Crossed |
| 263630 |
Polysyndactyly with Cardiac Malformation |
| 614688 |
Pontine Tegmental Cap Dysplasia; PTCD |
| 607596 |
Pontocerebellar Hypoplasia, Type 1A; PCH1A |
| 614678 |
Pontocerebellar Hypoplasia, Type 1B; PCH1B |
| 277470 |
Pontocerebellar Hypoplasia, Type 2A; PCH2A |
| 612389 |
Pontocerebellar Hypoplasia, Type 2B; PCH2B |
| 612390 |
Pontocerebellar Hypoplasia, Type 2c; PCH2C |
| 613811 |
Pontocerebellar Hypoplasia, Type 2D; PCH2D |
| 608027 |
Pontocerebellar Hypoplasia, Type 3; PCH3 |
| 225753 |
Pontocerebellar Hypoplasia, Type 4; PCH4 |
| 610204 |
Pontocerebellar Hypoplasia, Type 5; PCH5 |
| 611523 |
Pontocerebellar Hypoplasia, Type 6; PCH6 |
| 614969 |
Pontocerebellar Hypoplasia, Type 7; PCH7 |
| 614961 |
Pontocerebellar Hypoplasia, Type 8; PCH8 |
| 175750 |
Popliteal Cyst |
| 263650 |
Popliteal Pterygium Syndrome, Lethal Type |
| 119500 |
Popliteal Pterygium Syndrome; PPS (2 mouse models) |
| 175780 |
Porencephaly 1; POREN1 (1 mouse model) |
| 614483 |
Porencephaly 2; POREN2 |
| 601322 |
Porencephaly, Cerebellar Hypoplasia, and Internal Malformations |
| 175800 |
Porokeratosis 1, Mibelli Type; POROK1 |
| 175850 |
Porokeratosis 2, Palmar, Plantar, and Disseminated Type; POROK2 |
| 175900 |
Porokeratosis 3, Disseminated Superficial Actinic Type; POROK3 |
| 607728 |
Porokeratosis 4, Disseminated Superficial Actinic Type; POROK4 |
| 612293 |
Porokeratosis 5, Disseminated Superficial Actinic Type; POROK5 |
| 612353 |
Porokeratosis 6, Disseminated Superficial Actinic Type; POROK6 |
| 614714 |
Porokeratosis 7, Disseminated Superficial Actinic Type; POROK7 |
| 612740 |
Porphyria, Acute Hepatic |
| 176000 |
Porphyria, Acute Intermittent (1 mouse model) |
| 263700 |
Porphyria, Congenital Erythropoietic (3 mouse models) |
| 176100 |
Porphyria Cutanea Tarda (1 mouse model) |
| 176090 |
Porphyria Cutanea Tarda, Type I |
| 176200 |
Porphyria Variegata |
| 601004 |
Portal Vein, Cavernous Transformation of |
| 263750 |
Postaxial Acrofacial Dysostosis; POADS |
| 176240 |
Postaxial Oligodactyly, Tetramelic |
| 176250 |
Posterior Column Ataxia |
| 609033 |
Posterior Column Ataxia with Retinitis Pigmentosa; AXPC1 |
| 610883 |
Potocki-Lupski Syndrome; PTLS (1 mouse model) |
| 601224 |
Potocki-Shaffer Syndrome |
| 264010 |
Prader-Willi Habitus, Osteopenia, and Camptodactyly |
| 176270 |
Prader-Willi Syndrome; PWS (17 mouse models) |
| 128700 |
Preauricular Fistulae, Congenital |
| 610420 |
Preauricular Tag, Isolated, Autosomal Dominant, 1 |
| 176305 |
Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias |
| 601759 |
Preaxial Hallucal Polydactyly |
| 176400 |
Precocious Puberty, Central |
| 176410 |
Precocious Puberty, Male-Limited |
| 189800 |
Preeclampsia/Eclampsia 1; PEE1 (5 mouse models) |
| 609402 |
Preeclampsia/Eclampsia 2; PEE2 |
| 609403 |
Preeclampsia/Eclampsia 3; PEE3 |
| 609404 |
Preeclampsia/Eclampsia 4; PEE4 |
| 614595 |
Preeclampsia/Eclampsia 5; PEE5 |
| 614389 |
Pregnancy Loss, Recurrent, Susceptibility to, 1; RPRGL1 |
| 614390 |
Pregnancy Loss, Recurrent, Susceptibility to, 2; RPRGL2 |
| 614391 |
Pregnancy Loss, Recurrent, Susceptibility to, 3; RPRGL3 |
| 612423 |
Prekallikrein Deficiency |
| 601811 |
Premature Aging Syndrome, Okamoto Type |
| 601812 |
Premature Aging Syndrome, Penttinen Type |
| 212790 |
Premature Centromere Division; PCD |
| 176430 |
Premature Chromatid Separation Trait; PCS |
| 311360 |
Premature Ovarian Failure 1; POF1 |
| 300511 |
Premature Ovarian Failure 2A; POF2A |
| 300604 |
Premature Ovarian Failure 2B; POF2B |
| 608996 |
Premature Ovarian Failure 3; POF3 |
| 611548 |
Premature Ovarian Failure 5; POF5 |
| 612310 |
Premature Ovarian Failure 6; POF6 |
| 612964 |
Premature Ovarian Failure 7; POF7 |
| 264050 |
Prenatal Bowing |
| 264060 |
Prepapillary Vascular Loops |
| 176600 |
Presenile Dementia, Kraepelin Type |
| 610504 |
Preterm Premature Rupture of the Membranes; PPROM |
| 176620 |
Priapism, Familial Idiopathic (3 mouse models) |
| 309610 |
Prieto X-Linked Mental Retardation Syndrome; PRS |
| 611637 |
Primary Lateral Sclerosis, Adult, 1; PLSA1 |
| 606353 |
Primary Lateral Sclerosis, Juvenile; PLSJ |
| 176630 |
Primary Release Disorder of Platelets |
| 108980 |
Pr Interval, Variation in |
| 602249 |
Progeroid Facial Appearance with Hand Anomalies |
| 176690 |
Progeroid Short Stature with Pigmented Nevi |
| 612289 |
Progeroid Syndrome, Congenital, Petty Type |
| 264090 |
Progeroid Syndrome, Neonatal |
| 264080 |
Progesterone Resistance |
| 176700 |
Prognathism, Mandibular |
| 157640 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1; PEOA1 |
| 609283 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2; PEOA2 |
| 609286 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3; PEOA3 (1 mouse model) |
| 610131 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4; PEOA4 |
| 613077 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 5; PEOA5 |
| 258450 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive; PEOB |
| 113900 |
Progressive Familial Heart Block, Type IA; PFHB1A (2 mouse models) |
| 604559 |
Progressive Familial Heart Block, Type IB; PFHB1B |
| 140400 |
Progressive Familial Heart Block, Type II; PFHB2 |
| 264110 |
Prolactin Deficiency, Isolated |
| 264120 |
Prolactin Deficiency with Obesity and Enlarged Testes |
| 170100 |
Prolidase Deficiency |
| 225790 |
Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome; |
| 608415 |
Prolonged Electroretinal Response Suppression; PERRS |
| 176800 |
Pronation-Supination of the Forearm, Impairment of |
| 609734 |
Proopiomelanocortin Deficiency (1 mouse model) |
| 312060 |
Properdin Deficiency, X-Linked; CFPD |
| 606054 |
Propionic Acidemia |
| 600955 |
Proprotein Convertase 1/3 Deficiency |
| 610382 |
Prosopagnosia, Hereditary |
| 176807 |
Prostate Cancer (30 mouse models) |
| 607592 |
Prostate Cancer Aggressiveness Quantitative Trait Locus on Chromosome 19 |
| 603688 |
Prostate Cancer/Brain Cancer Susceptibility |
| 611100 |
Prostate Cancer, Hereditary, 10; HPC10 |
| 611955 |
Prostate Cancer, Hereditary, 11; HPC11 |
| 611868 |
Prostate Cancer, Hereditary, 12; HPC12 |
| 611928 |
Prostate Cancer, Hereditary, 13; HPC13 |
| 611958 |
Prostate Cancer, Hereditary, 14; HPC14 |
| 611959 |
Prostate Cancer, Hereditary, 15; HPC15 |
| 601518 |
Prostate Cancer, Hereditary, 1; HPC1 |
| 614731 |
Prostate Cancer, Hereditary, 2; HPC2 |
| 608656 |
Prostate Cancer, Hereditary, 3 |
| 608658 |
Prostate Cancer, Hereditary, 4 |
| 609299 |
Prostate Cancer, Hereditary, 5 |
| 609558 |
Prostate Cancer, Hereditary, 6 |
| 610321 |
Prostate Cancer, Hereditary, 7; HPC7 |
| 602759 |
Prostate Cancer, Hereditary, 8 |
| 610997 |
Prostate Cancer, Hereditary, 9 |
| 300147 |
Prostate Cancer, Hereditary, X-Linked 1; HPCX1 |
| 300704 |
Prostate Cancer, Hereditary, X-Linked 2; HPCX2 |
| 600082 |
Prostatic Hyperplasia, Benign; BPH |
| 604976 |
Protein Kinase, Amp-Activated, Noncatalytic, Gamma-3; PRKAG3 |
| 308990 |
Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis |
| 614024 |
Protein Z Deficiency |
| 176900 |
Proteolytic Capacity of Plasma |
| 176920 |
Proteus Syndrome |
| 613679 |
Prothrombin Deficiency, Congenital |
| 600931 |
Protocadherin 3 |
| 177000 |
Protoporphyria, Erythropoietic; EPP (3 mouse models) |
| 300752 |
Protoporphyria, Erythropoietic, X-Linked; XLEPP |
| 177050 |
Protrusio Acetabuli |
| 600706 |
Proximal Myopathy with Focal Depletion of Mitochondria |
| 264140 |
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness |
| 178995 |
Pruritic Urticarial Papules and Plaques of Pregnancy; PUPPP |
| 177100 |
Pruritus, Hereditary Localized |
| 177170 |
Pseudoachondroplasia; PSACH (2 mouse models) |
| 602511 |
Pseudoacromegaly with Severe Insulin Resistance |
| 177300 |
Pseudoarthrogryposis |
| 177350 |
Pseudoatrophoderma Colli |
| 177600 |
Pseudocholinesterase, Increase in Plasma Level of |
| 264180 |
Pseudodiastrophic Dysplasia |
| 612318 |
Pseudofolliculitis Barbae |
| 177700 |
Pseudoglaucoma |
| 264270 |
Pseudohermaphroditism, Female, with Skeletal Anomalies |
| 312100 |
Pseudohermaphroditism, Incomplete Male, Type I |
| 185020 |
Pseudohyperkalemia Cardiff |
| 177720 |
Pseudohyperkalemia, Familial, 1, Due to Red Cell Leak |
| 609153 |
Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak |
| 177735 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant; PHA1A (1 mouse model) |
| 264350 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive; PHA1B (2 mouse models) |
| 145260 |
Pseudohypoaldosteronism, Type IIA; PHA2A |
| 614491 |
Pseudohypoaldosteronism, Type IIB; PHA2B (1 mouse model) |
| 614492 |
Pseudohypoaldosteronism, Type IIC; PHA2C |
| 614495 |
Pseudohypoaldosteronism, Type Iid; PHA2D |
| 614496 |
Pseudohypoaldosteronism, Type Iie; PHA2E |
| 103580 |
Pseudohypoparathyroidism, Type IA; PHP1A (1 mouse model) |
| 603233 |
Pseudohypoparathyroidism, Type IB; PHP1B (2 mouse models) |
| 612462 |
Pseudohypoparathyroidism, Type Ic; PHP1C |
| 203330 |
Pseudohypoparathyroidism, Type II; PHP2 |
| 177750 |
Pseudomonilethrix |
| 177800 |
Pseudopapilledema |
| 264475 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies |
| 613241 |
Pseudopili Annulati |
| 612463 |
Pseudopseudohypoparathyroidism; PPHP (1 mouse model) |
| 264480 |
Pseudotrisomy 13 Syndrome |
| 264500 |
Pseudouridinuria and Mental Defect |
| 264600 |
Pseudovaginal Perineoscrotal Hypospadias; PPSH |
| 177820 |
Pseudo-Von Willebrand Disease; VWDP |
| 177850 |
Pseudoxanthoma Elasticum, Forme Fruste |
| 610842 |
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency |
| 264800 |
Pseudoxanthoma Elasticum; PXE (2 mouse models) |
| 612410 |
Psoriasis Susceptibility 10; PSORS10 |
| 612599 |
Psoriasis Susceptibility 11; PSORS11 |
| 612950 |
Psoriasis Susceptibility 12; PSORS12 |
| 614070 |
Psoriasis Susceptibility 13; PSORS13 |
| 177900 |
Psoriasis Susceptibility 1; PSORS1 |
| 602723 |
Psoriasis Susceptibility 2; PSORS2 |
| 601454 |
Psoriasis Susceptibility 3; PSORS3 |
| 603935 |
Psoriasis Susceptibility 4; PSORS4 (1 mouse model) |
| 604316 |
Psoriasis Susceptibility 5; PSORS5 |
| 605364 |
Psoriasis Susceptibility 6; PSORS6 |
| 605606 |
Psoriasis Susceptibility 7; PSORS7 |
| 610707 |
Psoriasis Susceptibility 8; PSORS8 |
| 607857 |
Psoriasis Susceptibility 9; PSORS9 |
| 607507 |
Psoriatic Arthritis, Susceptibility to Psoriatic Arthritis, Susceptibility to, 1; PSORAS1 |
| 614501 |
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism; |
| 177980 |
Pterygia, Mental Retardation, and Distinctive Craniofacial Features |
| 178200 |
Pterygium, Antecubital |
| 600159 |
Pterygium Colli and Mental Retardation with Facial and Digital Anomalies |
| 177990 |
Pterygium Colli, Isolated |
| 178000 |
Pterygium of Conjunctiva and Cornea (1 mouse model) |
| 178300 |
Ptosis, Hereditary Congenital 1; PTOS1 |
| 300245 |
Ptosis, Hereditary Congenital 2 |
| 178330 |
Ptosis, Strabismus, and Ectopic Pupils |
| 178350 |
Pubic Bone Dysplasia |
| 600096 |
Puerto Rican Infant Hypotonia Syndrome |
| 265100 |
Pulmonary Alveolar Microlithiasis |
| 610910 |
Pulmonary Alveolar Proteinosis, Acquired |
| 265140 |
Pulmonary Arteriovenous Fistulas |
| 265150 |
Pulmonary Atresia with Intact Ventricular Septum |
| 178370 |
Pulmonary Atresia with Ventricular Septal Defect (1 mouse model) |
| 265200 |
Pulmonary Bullae Causing Pneumothorax |
| 606963 |
Pulmonary Disease, Chronic Obstructive; COPD (4 mouse models) |
| 178400 |
Pulmonary Edema of Mountaineers |
| 614742 |
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1; |
| 614743 |
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2; |
| 178500 |
Pulmonary Fibrosis, Idiopathic; IPF (1 mouse model) |
| 608852 |
Pulmonary Function |
| 178550 |
Pulmonary Hemosiderosis |
| 612862 |
Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis, Susceptibility to |
| 178600 |
Pulmonary Hypertension, Primary, 1; PPH1 (4 mouse models) |
| 265400 |
Pulmonary Hypertension, Primary, Autosomal Recessive |
| 178610 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
| 265450 |
Pulmonary Venoocclusive Disease; PVOD |
| 265500 |
Pulmonic Stenosis |
| 265600 |
Pulmonic Stenosis and Congenital Nephrosis |
| 178651 |
Pulmonic Stenosis and Deafness |
| 178650 |
Pulmonic Stenosis, Atrial Septal Defect, and Unique Electrocardiographic Abnormalities |
| 178800 |
Pupil, Egg-Shaped |
| 178900 |
Pupillary Membrane, Persistence of |
| 613179 |
Purine Nucleoside Phosphorylase Deficiency (5 mouse models) |
| 179000 |
Purpura Simplex |
| 614204 |
Pustular Psoriasis, Generalized; PSORP |
| 265800 |
Pycnodysostosis (3 mouse models) |
| 265850 |
Pygmy |
| 265880 |
Pyknoachondrogenesis |
| 265900 |
Pyle Disease |
| 265950 |
Pyloric Atresia |
| 179010 |
Pyloric Stenosis, Infantile Hypertrophic, 1; IHPS1 (2 mouse models) |
| 610260 |
Pyloric Stenosis, Infantile Hypertrophic, 2; IHPS2 |
| 612017 |
Pyloric Stenosis, Infantile Hypertrophic, 3; IHPS3 |
| 300711 |
Pyloric Stenosis, Infantile Hypertrophic, 4; IHPS4 |
| 612525 |
Pyloric Stenosis, Infantile Hypertrophic, 5; IHPS5 |
| 604416 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne |
| 610090 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
| 266140 |
Pyropoikilocytosis, Hereditary; HPP |
| 266150 |
Pyruvate Carboxylase Deficiency |
| 312170 |
Pyruvate Dehydrogenase E1-Alpha Deficiency; PDHAD |
| 614111 |
Pyruvate Dehydrogenase E1-Beta Deficiency; PDHBD |
| 245348 |
Pyruvate Dehydrogenase E2 Deficiency; PDHDD |
| 245349 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency; PDHXD |
| 614462 |
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency; PDHLD |
| 608782 |
Pyruvate Dehydrogenase Phosphatase Deficiency; PDHPD |
| 266200 |
Pyruvate Kinase Deficiency of Red Cells |