| OMIM ID |
Human Disease |
| 608156 |
Nablus Mask-Like Facial Syndrome; NMLFS |
| 614063 |
N-Acetylaspartate Deficiency; NACED |
| 237310 |
N-Acetylglutamate Synthase Deficiency (1 mouse model) |
| 125860 |
Nad(p)h Dehydrogenase, Quinone 1; NQO1 |
| 161000 |
Naegeli Syndrome |
| 161100 |
Nailbeds, Pigmentation of |
| 614157 |
Nail Disorder, Nonsyndromic Congenital, 10; NDNC10 |
| 161050 |
Nail Disorder, Nonsyndromic Congenital, 1; NDNC1 |
| 149300 |
Nail Disorder, Nonsyndromic Congenital, 2; NDNC2 |
| 151600 |
Nail Disorder, Nonsyndromic Congenital, 3; NDNC3 |
| 206800 |
Nail Disorder, Nonsyndromic Congenital, 4; NDNC4 |
| 164800 |
Nail Disorder, Nonsyndromic Congenital, 5; NDNC5 |
| 107000 |
Nail Disorder, Nonsyndromic Congenital, 6; NDNC6 |
| 605779 |
Nail Disorder, Nonsyndromic Congenital, 7; NDNC7 |
| 607523 |
Nail Disorder, Nonsyndromic Congenital, 8; NDNC8 |
| 614149 |
Nail Disorder, Nonsyndromic Congenital, 9; NDNC9 |
| 161070 |
Nail High-Sulfur Protein |
| 161080 |
Nail Low-Sulfur Protein |
| 256020 |
Nail-Patella-Like Renal Disease |
| 161200 |
Nail-Patella Syndrome; NPS (5 mouse models) |
| 302350 |
Nance-Horan Syndrome; NHS (3 mouse models) |
| 600165 |
Nanophthalmos 1; NNO1 |
| 609549 |
Nanophthalmos 2; NNO2 |
| 611897 |
Nanophthalmos 3; NNO3 |
| 161400 |
Narcolepsy 1; NRCLP1 (1 mouse model) |
| 605841 |
Narcolepsy 2, Susceptibility To; NRCLP2 |
| 609039 |
Narcolepsy 3; NRCLP3 |
| 612417 |
Narcolepsy 4, Susceptibility To; NRCLP4 |
| 612851 |
Narcolepsy 5, Susceptibility To; NRCLP5 |
| 614223 |
Narcolepsy 6, Susceptibility To; NRCLP6 |
| 614250 |
Narcolepsy 7; NRCLP7 |
| 161470 |
Nasal Alar Collapse, Bilateral |
| 161480 |
Nasal Bones, Absence of |
| 161500 |
Nasal Groove, Familial Transverse |
| 161530 |
Nasal Hyperpigmentation, Familial Transverse |
| 255980 |
Nasodigitoacoustic Syndrome |
| 607107 |
Nasopharyngeal Carcinoma |
| 161550 |
Nasopharyngeal Carcinoma, Susceptibility to, 2 |
| 255990 |
Nathalie Syndrome |
| 255995 |
Native American Myopathy; NAM |
| 609981 |
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect; NKGCD |
| 161600 |
Navicular Bone, Accessory |
| 601214 |
Naxos Disease (1 mouse model) |
| 161700 |
Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult |
| 609284 |
Nemaline Myopathy 1; NEM1 (1 mouse model) |
| 256030 |
Nemaline Myopathy 2; NEM2 (1 mouse model) |
| 161800 |
Nemaline Myopathy 3; NEM3 (2 mouse models) |
| 609285 |
Nemaline Myopathy 4; NEM4 |
| 605355 |
Nemaline Myopathy 5; NEM5 |
| 609273 |
Nemaline Myopathy 6; NEM6 |
| 610687 |
Nemaline Myopathy 7; NEM7 |
| 300539 |
Nephrogenic Syndrome of Inappropriate Antidiuresis; NSIAD |
| 167030 |
Nephrolithiasis, Calcium Oxalate |
| 612286 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1; NPHLOP1 |
| 612287 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2; NPHLOP2 |
| 605990 |
Nephrolithiasis, Uric Acid, Susceptibility to |
| 310468 |
Nephrolithiasis, X-Linked Recessive, with Renal Failure; XRN |
| 613550 |
Nephronophthisis 11; NPHP11 |
| 613820 |
Nephronophthisis 12; NPHP12 |
| 614377 |
Nephronophthisis 13; NPHP13 |
| 614844 |
Nephronophthisis 14; NPHP14 |
| 614845 |
Nephronophthisis 15; NPHP15 |
| 256100 |
Nephronophthisis 1; NPHP1 |
| 602088 |
Nephronophthisis 2; NPHP2 (1 mouse model) |
| 604387 |
Nephronophthisis 3; NPHP3 (2 mouse models) |
| 606966 |
Nephronophthisis 4; NPHP4 |
| 611498 |
Nephronophthisis 7; NPHP7 (1 mouse model) |
| 613824 |
Nephronophthisis 9; NPHP9 |
| 613159 |
Nephronophthisis-Like Nephropathy 1; NPHPL1 |
| 551200 |
Nephropathy, Chronic Tubulointerstitial |
| 256120 |
Nephropathy, Deafness, and Hyperparathyroidism |
| 602114 |
Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease |
| 609469 |
Nephropathy, Progressive, with Deafness |
| 609057 |
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (1 mouse model) |
| 256150 |
Nephrosialidosis |
| 256200 |
Nephrosis with Deafness and Urinary Tract and Digital Malformations |
| 256300 |
Nephrotic Syndrome, Type 1; NPHS1 (4 mouse models) |
| 600995 |
Nephrotic Syndrome, Type 2; NPHS2 (5 mouse models) |
| 610725 |
Nephrotic Syndrome, Type 3; NPHS3 |
| 256370 |
Nephrotic Syndrome, Type 4; NPHS4 |
| 614199 |
Nephrotic Syndrome, Type 5, with or without Ocular Abnormalities; |
| 614196 |
Nephrotic Syndrome, Type 6; NPHS6 |
| 615008 |
Nephrotic Syndrome, Type 7; NPHS7 |
| 162020 |
Nerve Growth Factor, Alpha Subunit; NGFA |
| 614008 |
Nestor-Guillermo Progeria Syndrome; NGPS |
| 256500 |
Netherton Syndrome; NETH (7 mouse models) |
| 256520 |
Neu-Laxova Syndrome; NLS |
| 162080 |
Neural Retina Leucine Zipper; NRL |
| 182940 |
Neural Tube Defects (3 mouse models) |
| 601634 |
Neural Tube Defects, Folate-Sensitive (2 mouse models) |
| 301410 |
Neural Tube Defects, X-Linked |
| 256550 |
Neuraminidase Deficiency (2 mouse models) |
| 256700 |
Neuroblastoma, Susceptibility to (10 mouse models) |
| 613013 |
Neuroblastoma, Susceptibility to, 2; NBLST2 |
| 613014 |
Neuroblastoma, Susceptibility to, 3; NBLST3 |
| 613015 |
Neuroblastoma, Susceptibility to, 4; NBLST4 |
| 613016 |
Neuroblastoma, Susceptibility to, 5; NBLST5 |
| 613017 |
Neuroblastoma, Susceptibility to, 6; NBLST6 |
| 613068 |
Neurodegeneration Due to Cerebral Folate Transport Deficiency |
| 234200 |
Neurodegeneration with Brain Iron Accumulation 1; NBIA1 |
| 256600 |
Neurodegeneration with Brain Iron Accumulation 2A; NBIA2A (7 mouse models) |
| 610217 |
Neurodegeneration with Brain Iron Accumulation 2B; NBIA2B |
| 606159 |
Neurodegeneration with Brain Iron Accumulation 3; NBIA3 (1 mouse model) |
| 614298 |
Neurodegeneration with Brain Iron Accumulation 4; NBIA4 |
| 603641 |
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia |
| 256690 |
Neurofaciodigitorenal Syndrome |
| 162210 |
Neurofibromatosis, Familial Spinal |
| 601321 |
Neurofibromatosis-Noonan Syndrome; NFNS |
| 162240 |
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome |
| 162260 |
Neurofibromatosis, Type III, Mixed Central and Peripheral; NF3A |
| 101000 |
Neurofibromatosis, Type II; NF2 |
| 162200 |
Neurofibromatosis, Type I; NF1 (13 mouse models) |
| 162270 |
Neurofibromatosis, Type IV, of Riccardi; NF4 |
| 256720 |
Neurologic Disease, Infantile Multisystem, with Osseous Fragility |
| 137200 |
Neuromyotonia and Axonal Neuropathy, Autosomal Recessive; NMAN |
| 601223 |
Neuronal Intestinal Dysplasia, Type B (3 mouse models) |
| 603472 |
Neuronal Intranuclear Inclusion Disease |
| 182960 |
Neuronopathy, Distal Hereditary Motor, Type I; HMN1 |
| 158590 |
Neuronopathy, Distal Hereditary Motor, Type IIA; HMN2A |
| 608634 |
Neuronopathy, Distal Hereditary Motor, Type IIB; HMN2B (2 mouse models) |
| 613376 |
Neuronopathy, Distal Hereditary Motor, Type IIC; HMN2C |
| 600794 |
Neuronopathy, Distal Hereditary Motor, Type Va; HMN5A |
| 614751 |
Neuronopathy, Distal Hereditary Motor, Type Vb; HMN5B |
| 158580 |
Neuronopathy, Distal Hereditary Motor, Type Viia; HMN7A |
| 607641 |
Neuronopathy, Distal Hereditary Motor, Type Viib; HMN7B |
| 551500 |
Neuropathy, Ataxia, and Retinitis Pigmentosa |
| 605253 |
Neuropathy, Congenital Hypomyelinating, Autosomal Recessive; CHN (3 mouse models) |
| 162370 |
Neuropathy, Congenital, with Arthrogryposis Multiplex |
| 605285 |
Neuropathy, Hereditary Motor and Sensory, Russe Type |
| 214370 |
Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers |
| 256855 |
Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive |
| 162380 |
Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance |
| 608720 |
Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia |
| 162400 |
Neuropathy, Hereditary Sensory and Autonomic, Type IA; HSAN1A (1 mouse model) |
| 613640 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ic; HSAN1C |
| 201300 |
Neuropathy, Hereditary Sensory and Autonomic, Type IIA; HSAN2A |
| 613115 |
Neuropathy, Hereditary Sensory and Autonomic, Type IIB; HSAN2B |
| 223900 |
Neuropathy, Hereditary Sensory and Autonomic, Type III; HSAN3 (2 mouse models) |
| 608088 |
Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux |
| 608654 |
Neuropathy, Hereditary Sensory and Autonomic, Type V; HSAN5 |
| 614653 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vi; HSAN6 |
| 256860 |
Neuropathy, Hereditary Sensory, Atypical |
| 613708 |
Neuropathy, Hereditary Sensory, Type ID; HSN1D |
| 614116 |
Neuropathy, Hereditary Sensory, Type IE; HSN1E |
| 614213 |
Neuropathy, Hereditary Sensory, Type IIC; HSN2C |
| 256840 |
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive (1 mouse model) |
| 310470 |
Neuropathy, Hereditary Sensory, X-Linked |
| 602107 |
Neuropathy, Hereditary Thermosensitive |
| 162500 |
Neuropathy, Hereditary, with Liability to Pressure Palsies; HNPP (2 mouse models) |
| 256870 |
Neuropathy, Painful |
| 162600 |
Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine |
| 257000 |
Neurovisceral Storage Disease with Curvilinear Bodies |
| 610717 |
Neutral Lipid Storage Disease with Myopathy; NLSDM |
| 162700 |
Neutropenia, Chronic Familial |
| 257100 |
Neutropenia, Lethal Congenital, with Eosinophilia |
| 607847 |
Neutropenia, Nonimmune Chronic Idiopathic, of Adults |
| 202700 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant; SCN1 |
| 613107 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant; SCN2 (1 mouse model) |
| 610738 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive; SCN3 |
| 612541 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive; SCN4 |
| 300299 |
Neutropenia, Severe Congenital, X-Linked; SCNX |
| 257150 |
Neutrophil Actin Dysfunction; NAD |
| 162830 |
Neutrophilia, Hereditary (1 mouse model) |
| 608068 |
Neutrophilic Dermatosis, Acute Febrile |
| 608203 |
Neutrophil Immunodeficiency Syndrome |
| 162820 |
Neutrophil Migration; NM |
| 614323 |
Nevoid Hypermelanosis, Linear and Whorled; LWNH |
| 163050 |
Nevus Anemicus |
| 162900 |
Nevus, Epidermal |
| 163100 |
Nevus Flammeus of Nape of Neck |
| 607476 |
Newfoundland Rod-Cone Dystrophy; NFRCD |
| 609643 |
Nguyen Syndrome |
| 601358 |
Nicolaides-Baraitser Syndrome; NCBRS |
| 257200 |
Niemann-Pick Disease, Type A (2 mouse models) |
| 607616 |
Niemann-Pick Disease, Type B (2 mouse models) |
| 257220 |
Niemann-Pick Disease, Type C1; NPC1 (16 mouse models) |
| 607625 |
Niemann-Pick Disease, Type C2 |
| 163400 |
Nievergelt Syndrome |
| 610445 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1; CSNBAD1 (1 mouse model) |
| 163500 |
Night Blindness, Congenital Stationary, Autosomal Dominant 2; CSNBAD2 (14 mouse models) |
| 610444 |
Night Blindness, Congenital Stationary, Autosomal Dominant 3; CSNBAD3 |
| 310500 |
Night Blindness, Congenital Stationary, Type 1A; CSNB1A (1 mouse model) |
| 257270 |
Night Blindness, Congenital Stationary, Type 1B; CSNB1B |
| 613216 |
Night Blindness, Congenital Stationary, Type 1C; CSNB1C |
| 613830 |
Night Blindness, Congenital Stationary, Type 1D; CSNB1D |
| 614565 |
Night Blindness, Congenital Stationary, Type 1E; CSNB1E |
| 615058 |
Night Blindness, Congenital Stationary, Type 1F; CSNB1F |
| 300071 |
Night Blindness, Congenital Stationary, Type 2A; CSNB2A (4 mouse models) |
| 610427 |
Night Blindness, Congenital Stationary, Type 2B; CSNB2B |
| 251260 |
Nijmegen Breakage Syndrome (7 mouse models) |
| 613078 |
Nijmegen Breakage Syndrome-Like Disorder; NBSLD |
| 163600 |
Nipples Inverted |
| 163700 |
Nipples, Supernumerary |
| 163729 |
Nitric Oxide Synthase 3; NOS3 |
| 163850 |
Noduli Cutanei, Multiple, with Urinary Tract Abnormalities |
| 605820 |
Nonaka Myopathy; NM (1 mouse model) |
| 258660 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility to |
| 158250 |
Nondisjunction |
| 163950 |
Noonan Syndrome 1; NS1 (4 mouse models) |
| 605275 |
Noonan Syndrome 2; NS2 |
| 609942 |
Noonan Syndrome 3; NS3 |
| 610733 |
Noonan Syndrome 4; NS4 (2 mouse models) |
| 611553 |
Noonan Syndrome 5; NS5 (2 mouse models) |
| 613224 |
Noonan Syndrome 6; NS6 |
| 613706 |
Noonan Syndrome 7; NS7 |
| 607721 |
Noonan Syndrome-Like Disorder with Loose Anagen Hair; NSLH |
| 613563 |
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia; NSLL |
| 170600 |
Normokalemic Periodic Paralysis |
| 310600 |
Norrie Disease; ND (3 mouse models) |
| 604901 |
North American Indian Childhood Cirrhosis; NAIC |
| 164000 |
Nose, Anomalous Shape of |
| 601696 |
Novelty Seeking Personality Trait |
| 310465 |
N Syndrome; NSX |
| 257350 |
Nuchal Bleb, Familial |
| 184757 |
Nuclear Receptor Subfamily 5, Group A, Member 1; NR5A1 |
| 310650 |
Nuclear Ribonucleic Acid; NRNA |
| 310700 |
Nystagmus 1, Congenital, X-Linked; NYS1 |
| 164100 |
Nystagmus 2, Congenital, Autosomal Dominant; NYS2 |
| 608345 |
Nystagmus 3, Congenital, Autosomal Dominant; NYS3 |
| 193003 |
Nystagmus 4, Congenital, Autosomal Dominant; NYS4 |
| 300589 |
Nystagmus 5, Congenital, X-Linked; NYS5 |
| 300814 |
Nystagmus 6, Congenital, X-Linked; NYS6 |
| 614826 |
Nystagmus 7, Congenital, Autosomal Dominant; NYS7 |
| 257400 |
Nystagmus, Congenital, Autosomal Recessive |
| 164150 |
Nystagmus, Hereditary Vertical |
| 310800 |
Nystagmus, Myoclonic |
| 164170 |
Nystagmus, Voluntary |
Analysis Tools