Disease Name Symbol Acronym
N-Acetylaspartate Deficiency NCT013
N-Acetylglutamate Synthase Deficiency NCT003
Nablus Mask-Like Facial Syndrome NBL001
Naegeli-Franceschetti-Jadassohn Syndrome NGL001
Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis NGL003
Nail Disease NLD001
Nail Disorder, Nonsyndromic Congenital, 1 NLD009
Nail Disorder, Nonsyndromic Congenital, 10 NLD016
Nail Disorder, Nonsyndromic Congenital, 3 NLD012
Nail Disorder, Nonsyndromic Congenital, 4 NLD014
Nail Disorder, Nonsyndromic Congenital, 8 NLD015
Nail Disorder, Nonsyndromic Congenital, 9 NLD006
Nail Dysplasia, Isolated Congenital NLD003
Nail-Patella Syndrome NLP001
Nakajo Syndrome NKJ001
Nance-Horan Syndrome NNC002
Nanophthalmos 1 NNP017
Nanophthalmos 2 NNP011
Nanophthalmos 3 NNP008
Nanophthalmos 4 NNP012
Narcissistic Personality Disorder NRC003
Narcolepsy NRC002
Narcolepsy 1 NRC009
Narcolepsy 2 NRC010
Narcolepsy 3 NRC011
Narcolepsy 4 NRC012
Narcolepsy 5 NRC013
Narcolepsy 6 NRC018
Narcolepsy 7 NRC017
Nasal Cavity Adenocarcinoma NSL003
Nasal Cavity Cancer NSL008
Nasal Cavity Disease NSL022
Nasal Cavity Lymphoma NSL004
Nasal Cavity Squamous Cell Carcinoma NSL006
Nasopalpebral Lipoma-Coloboma Syndrome NSP016
Nasopharyngeal Carcinoma NSP012
Nasopharyngeal Carcinoma 2 NSP009
Nasopharyngeal Carcinoma 3 NSP015
Nasopharyngeal Disease NSP003
Nasopharyngitis NSP002
Native American Myopathy NTV001
Natowicz Syndrome NTW001
Natural Killer Cell Leukemia NTR003
Naxos Disease NXS001
Nebulin-Related Early-Onset Distal Myopathy NBL003
Necatoriasis NCT001
Necrobiosis Lipoidica NCR002
Necrobiotic Xanthogranuloma NCR009
Necrotizing Fasciitis NCR007
Necrotizing Gastritis NCR005
Necrotizing Sialometaplasia NCR003
Necrotizing Soft Tissue Infection NCR014
Necrotizing Ulcerative Gingivitis NCR001
Neisseria Meningitidis Infection NSS002
Nelson Syndrome NLS001
Nemaline Myopathy NML001
Nemaline Myopathy 1 NML002
Nemaline Myopathy 10 NML022
Nemaline Myopathy 11, Autosomal Recessive NML024
Nemaline Myopathy 2 NML003
Nemaline Myopathy 3 NML004
Nemaline Myopathy 4 NML005
Nemaline Myopathy 5 NML006
Nemaline Myopathy 6 NML007
Nemaline Myopathy 7 NML010
Nemaline Myopathy 8 NML025
Nemaline Myopathy 9 NML021
Neonatal Abstinence Syndrome NNT008
Neonatal Adrenoleukodystrophy NNT017
Neonatal Alloimmune Neutropenia NNT054
Neonatal Anemia NNT011
Neonatal Candidiasis NNT005
Neonatal Diabetes Mellitus NNT009
Neonatal Glycine Encephalopathy NNT038
Neonatal Herpes NNT018
Neonatal Hypothyroidism NNT019
Neonatal Hypoxic and Ischemic Brain Injury NNT033
Neonatal Inflammatory Skin and Bowel Disease NNT037
Neonatal Jaundice NNT012
Neonatal Leukemia NNT007
Neonatal Lupus Erythematosus NNT042
Neonatal Marfan Syndrome NNT039
Neonatal Meningitis NNT021
Neonatal Myasthenia Gravis NNT006
Neonatal Period Electroclinical Syndrome NNT041
Neonatal Respiratory Failure NNT004
Neonatal Stroke NNT024
Neonatal Thyrotoxicosis NNT003
Neovascular Glaucoma NVS001
Nephrocalcinosis NPH003
Nephrogenic Adenofibroma NPH006
Nephrogenic Adenoma NPH001
Nephrogenic Adenoma of the Urethra NPH008
Nephrogenic Adenoma of Urinary Bladder NPH002
Nephrogenic Syndrome of Inappropriate Antidiuresis NPH013
Nephrogenic Systemic Fibrosis NPH018
Nephrolithiasis NPH009
Nephrolithiasis, Calcium Oxalate NPH091
Nephrolithiasis, Uric Acid NPH078
Nephrolithiasis, X-Linked Recessive, with Renal Failure NPH098
Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 NPH056
Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 NPH042
Nephronophthisis NPH005
Nephronophthisis 1 NPH019
Nephronophthisis 11 NPH053
Nephronophthisis 12 NPH067
Nephronophthisis 13 NPH065
Nephronophthisis 14 NPH071
Nephronophthisis 15 NPH069
Nephronophthisis 16 NPH068
Nephronophthisis 18 NPH075
Nephronophthisis 19 NPH077
Nephronophthisis 2 NPH030
Nephronophthisis 20 NPH086
Nephronophthisis 3 NPH031
Nephronophthisis 4 NPH032
Nephronophthisis 7 NPH033
Nephronophthisis 9 NPH035
Nephronophthisis-Like Nephropathy 1 NPH037
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness NPH014
Nephropathy, Progressive, with Deafness NPH050
Nephrosclerosis NPH010
Nephrotic Syndrome NPH012
Nephrotic Syndrome 14 NPH094
Nephrotic Syndrome 15 NPH092
Nephrotic Syndrome 16 NPH101
Nephrotic Syndrome, Idiopathic, Steroid-Resistant NPH026
Nephrotic Syndrome, Type 1 NPH055
Nephrotic Syndrome, Type 10 NPH076
Nephrotic Syndrome, Type 11 NPH095
Nephrotic Syndrome, Type 12 NPH096
Nephrotic Syndrome, Type 13 NPH093
Nephrotic Syndrome, Type 2 NPH049
Nephrotic Syndrome, Type 3 NPH054
Nephrotic Syndrome, Type 4 NPH047
Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities NPH039
Nephrotic Syndrome, Type 6 NPH070
Nephrotic Syndrome, Type 7 NPH072
Nephrotic Syndrome, Type 8 NPH073
Nephrotic Syndrome, Type 9 NPH074
Nerve Compression Syndrome NRV004
Nerve Growth Factor, Alpha Subunit NRV013
Nervous System Cancer NRV006
Nervous System Disease NRV007
Nestor-Guillermo Progeria Syndrome NST002
Netherton Syndrome NTH001
Neu-Laxova Syndrome 1 NLX004
Neu-Laxova Syndrome 2 NLX003
Neural Crest Tumor NRL008
Neural Tube Defects NRL016
Neural Tube Defects, Folate-Sensitive NRL018
Neuraminidase Deficiency NRM019
Neurenteric Cyst NRN022
Neurilemmoma NRL005
Neurilemmomatosis NRL002
Neuritis NRT004
Neuroaxonal Dystrophy NRX001
Neuroblastoma NRB001
Neuroblastoma 2 NRB015
Neuroblastoma 3 NRB014
Neuroblastoma 4 NRB011
Neuroblastoma 5 NRB012
Neuroblastoma 6 NRB013
Neuroblastoma 7 NRB016
Neuroblastoma Breakpoint Family, Member 17, Pseudogene NRB017
Neurodegeneration Due to Cerebral Folate Transport Deficiency NRD004
Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset NRD027
Neurodegeneration with Brain Iron Accumulation NRD007
Neurodegeneration with Brain Iron Accumulation 1 NRD017
Neurodegeneration with Brain Iron Accumulation 2a NRD033
Neurodegeneration with Brain Iron Accumulation 2b NRD009
Neurodegeneration with Brain Iron Accumulation 3 NRD008
Neurodegeneration with Brain Iron Accumulation 4 NRD014
Neurodegeneration with Brain Iron Accumulation 5 NRD032
Neurodegeneration with Brain Iron Accumulation 6 NRD016
Neurodegeneration, Childhood-Onset, with Brain Atrophy NRD030
Neurodermatitis NRD001
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter NRD040
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies NRD037
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination NRD031
Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language NRD023
Neurodevelopmental Disorder with Involuntary Movements NRD029
Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures NRD035
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy NRD042
Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies NRD026
Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy NRD038
Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations NRD025
Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart NRD024
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant NRD034
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive NRD041
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies NRD028
Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language NRD039
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion NRD020
Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures NRD036
Neuroendocrine Cell Hyperplasia of Infancy NRN023
Neuroendocrine Tumor NRN004
Neurofibroma NRF007
Neurofibromatosis-Noonan Syndrome NRF008
Neurofibromatosis, Familial Spinal NRF016
Neurofibromatosis, Type I NRF024
Neurofibromatosis, Type Ii NRF023
Neurofibromatosis, Type Iv, of Riccardi NRF026
Neurofibrosarcoma NRF003
Neurogenic Arthropathy NRG003
Neurogenic Bladder NRG002
Neurogenic Bowel NRG001
Neurogenic Hypertension NRG005
Neuroleptic Malignant Syndrome NRL004
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset NRL023
Neuroma NRM004
Neuromuscular Disease NRM005
Neuromuscular Junction Disease NRM006
Neuromyelitis Optica NRM001
Neuromyelitis Optica Spectrum Disorder NRM008
Neuromyotonia and Axonal Neuropathy, Autosomal Recessive NRM016
Neuronal Ceroid Lipofuscinosis NRN021
Neuronal Ceroid-Lipofuscinoses NRN005
Neuronal Intestinal Dysplasia NRN029
Neuronal Intranuclear Inclusion Disease NRN008
Neuronal Migration Disorders NRN016
Neuronitis NRN002
Neuronopathy, Distal Hereditary Motor, Type Iia NRN035
Neuronopathy, Distal Hereditary Motor, Type Iib NRN041
Neuronopathy, Distal Hereditary Motor, Type Iic NRN018
Neuronopathy, Distal Hereditary Motor, Type Iid NRN026
Neuronopathy, Distal Hereditary Motor, Type Ix NRN042
Neuronopathy, Distal Hereditary Motor, Type Va NRN037
Neuronopathy, Distal Hereditary Motor, Type Vb NRN024
Neuronopathy, Distal Hereditary Motor, Type Viia NRN025
Neuronopathy, Distal Hereditary Motor, Type Viib NRN040
Neuronopathy, Distal Hereditary Motor, Type Viii NRN036
Neuropathy NRP001
Neuropathy with Hearing Impairment NRP028
Neuropathy, Ataxia, and Retinitis Pigmentosa NRP045
Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive NRP060
Neuropathy, Hereditary Motor and Sensory, Okinawa Type NRP009
Neuropathy, Hereditary Motor and Sensory, Russe Type NRP010
Neuropathy, Hereditary Motor and Sensory, Type Via NRP059
Neuropathy, Hereditary Motor and Sensory, Type Vib NRP043
Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers NRP046
Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux NRP049
Neuropathy, Hereditary Sensory and Autonomic, Type Ia NRP033
Neuropathy, Hereditary Sensory and Autonomic, Type Ic NRP040
Neuropathy, Hereditary Sensory and Autonomic, Type Iia NRP053
Neuropathy, Hereditary Sensory and Autonomic, Type Iib NRP018
Neuropathy, Hereditary Sensory and Autonomic, Type Iii NRP054
Neuropathy, Hereditary Sensory and Autonomic, Type V NRP037
Neuropathy, Hereditary Sensory and Autonomic, Type Vi NRP038
Neuropathy, Hereditary Sensory and Autonomic, Type Vii NRP031
Neuropathy, Hereditary Sensory and Autonomic, Type Viii NRP044
Neuropathy, Hereditary Sensory, Type Id NRP039
Neuropathy, Hereditary Sensory, Type Ie NRP041
Neuropathy, Hereditary Sensory, Type if NRP036
Neuropathy, Hereditary Sensory, Type Iic NRP029
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive NRP055
Neuropathy, Hereditary, with Liability to Pressure Palsies NRP051
Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration NRP048
Neuropathy, Painful NRP027
Neuroretinitis NRR001
Neurosarcoidosis NRS005
Neuroschistosomiasis NRS001
Neurosyphilis NRS003
Neurotic Disorder NRT001
Neurotic Excoriation NRT002
Neurotrophic Keratopathy NRT011
Neutral Lipid Storage Disease with Myopathy NTR007
Neutropenia NTR004
Neutropenia, Nonimmune Chronic Idiopathic, of Adults NTR013
Neutropenia, Severe Congenital, 1, Autosomal Dominant NTR047
Neutropenia, Severe Congenital, 2, Autosomal Dominant NTR051
Neutropenia, Severe Congenital, 3, Autosomal Recessive NTR049
Neutropenia, Severe Congenital, 4, Autosomal Recessive NTR050
Neutropenia, Severe Congenital, 5, Autosomal Recessive NTR031
Neutropenia, Severe Congenital, 6, Autosomal Recessive NTR034
Neutropenia, Severe Congenital, 7, Autosomal Recessive NTR044
Neutropenia, Severe Congenital, X-Linked NTR036
Neutrophil Actin Dysfunction NTR027
Neutrophil Immunodeficiency Syndrome NTR006
Neutrophil Migration NTR046
Neutrophil-Specific Granule Deficiency NTR011
Neutrophilia, Hereditary NTR018
Neutrophilic Dermatosis, Acute Febrile NTR042
Nevus Comedonicus NVS015
Nevus of Ota NVS007
Nevus, Epidermal NVS017
New Daily-Persistent Headache NWD001
Newborn Respiratory Distress Syndrome NWB001
Newcastle Disease NWC001
Newfoundland Rod-Cone Dystrophy NWF001
Nf-Kappa B Essential Modulator Deficiency NFK002
Ngly1-Congenital Disorder of Deglycosylation NGL005
Nicolaides-Baraitser Syndrome NCL006
Niemann-Pick Disease NMN002
Niemann-Pick Disease Type C, Adult Neurologic Onset NMN011
Niemann-Pick Disease Type C, Juvenile Neurologic Onset NMN012
Niemann-Pick Disease Type C, Late Infantile Neurologic Onset NMN009
Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset NMN010
Niemann-Pick Disease Type C, Severe Perinatal Form NMN008
Niemann-Pick Disease, Type a NMN013
Niemann-Pick Disease, Type B NMN016
Niemann-Pick Disease, Type C1 NMN015
Niemann-Pick Disease, Type C2 NMN014
Night Blindness NGH001
Night Blindness, Congenital Stationary, Autosomal Dominant 1 NGH021
Night Blindness, Congenital Stationary, Autosomal Dominant 2 NGH010
Night Blindness, Congenital Stationary, Autosomal Dominant 3 NGH008
Night Blindness, Congenital Stationary, Type 1a NGH026
Night Blindness, Congenital Stationary, Type 1b NGH007
Night Blindness, Congenital Stationary, Type 1c NGH027
Night Blindness, Congenital Stationary, Type 1d NGH028
Night Blindness, Congenital Stationary, Type 1e NGH029
Night Blindness, Congenital Stationary, Type 1f NGH030
Night Blindness, Congenital Stationary, Type 1g NGH022
Night Blindness, Congenital Stationary, Type 1h NGH024
Night Blindness, Congenital Stationary, Type 2a NGH025
Nijmegen Breakage Syndrome NJM001
Nijmegen Breakage Syndrome-Like Disorder NJM002
Nik Deficiency NKD001
Nipples, Supernumerary NPP006
Nocardiosis NCR004
Nodal Marginal Zone B-Cell Lymphoma NDL020
Nodular Basal Cell Carcinoma NDL009
Nodular Degeneration of Cornea NDL004
Nodular Ganglioneuroblastoma NDL011
Nodular Goiter NDL007
Nodular Hidradenoma NDL010
Nodular Lymphocyte Predominant Hodgkin Lymphoma NDL021
Nodular Malignant Melanoma NDL001
Nodular Medulloblastoma NDL005
Nodular Nonsuppurative Panniculitis NDL003
Nodular Prostate NDL006
Nodular Regenerative Hyperplasia NDL013
Nodular Tenosynovitis NDL002
Nodular Urticaria Pigmentosa NDL018
Noma NM001
Nominal Aphasia NMN001
Non-a-E Hepatitis NNH002
Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency NNC007
Non-Functioning Pancreatic Endocrine Tumor NNF001
Non-Functioning Pituitary Adenoma NNF007
Non-Gestational Choriocarcinoma NNG001
Non-Gestational Ovarian Choriocarcinoma NNG002
Non-Hereditary Retinoblastoma NNH011
Non-Herpetic Acute Limbic Encephalitis NNH006
Non-Invasive Bladder Papillary Urothelial Neoplasm NNN005
Non-Langerhans-Cell Histiocytosis NNL001
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy NNP016
Non-Proliferative Fibrocystic Change of the Breast NNP005
Non-Secretory Myeloma NNS003
Non-Suppurative Otitis Media NNS006
Non-Syndromic Genetic Deafness NNS044
Non-Syndromic Intellectual Disability NNS031
Non-Syndromic Male Infertility Due to Sperm Motility Disorder NNS033
Non-Syndromic X-Linked Intellectual Disability NNS032
Nonaka Myopathy NNK001
Nonalcoholic Steatohepatitis NNL002
Nonarteritic Anterior Ischemic Optic Neuropathy NNR004
Nondisjunction NND010
Nondystrophic Myotonia NND001
Nonphotosensitive Trichothiodystrophy NNP004
Nonseminomatous Germ Cell Tumor NNS011
Nonspecific Interstitial Pneumonia NNS002
Nonsyndromic Deafness NNS007
Nonsyndromic Retinitis Pigmentosa NNS043
Nontoxic Goiter NNT010
Nontuberculous Mycobacterial Lung Disease NNT049
Noonan Syndrome 1 NNN008
Noonan Syndrome 10 NNN025
Noonan Syndrome 2 NNN009
Noonan Syndrome 3 NNN010
Noonan Syndrome 4 NNN011
Noonan Syndrome 5 NNN012
Noonan Syndrome 6 NNN013
Noonan Syndrome 7 NNN020
Noonan Syndrome 8 NNN021
Noonan Syndrome 9 NNN024
Noonan Syndrome with Multiple Lentigines NNN026
Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 NNN028
Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 NNN027
Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia NNN022
Noonan-Like/multiple Giant Cell Lesion Syndrome NNN015
Normokalemic Periodic Paralysis NRM009
Normosmic Congenital Hypogonadotropic Hypogonadism NRM018
Norrie Disease NRR002
Norse NRS006
North American Indian Childhood Cirrhosis NRT006
Norwegian Scabies NRW001
Nose Disease NSD001
Nosophobia NSP004
Novelty Seeking Personality Trait NVL002
Nsdhl-Related Disorders NSD002
Nuclear Receptor Subfamily 1, Group H, Member 5, Pseudogene NCL009
Nuclear Senile Cataract NCL001
Null Pituitary Adenoma NLL003
Null-Cell Leukemia NLL001
Nut Allergy NTL004
Nut Midline Carcinoma NTM002
Nutmeg Liver NTM001
Nutritional Deficiency Disease NTR005
Nutritional Optic Neuropathy NTR002
Nystagmus 1, Congenital, X-Linked NYS017
Nystagmus 2, Congenital, Autosomal Dominant NYS003
Nystagmus 3, Congenital, Autosomal Dominant NYS004
Nystagmus 4, Congenital, Autosomal Dominant NYS005
Nystagmus 5, Congenital, X-Linked NYS012
Nystagmus 6, Congenital, X-Linked NYS013
Nystagmus 7, Congenital, Autosomal Dominant NYS016
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