Disease Name Symbol Acronym
N Syndrome NSY001
N-Acetylaspartate Deficiency NCT013
N-Acetylglutamate Synthase Deficiency NCT003
N-Terminal Acetyltransferase Deficiency NTR041
Naa10-Related Lenz Microphthalmia Syndrome N10001
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, NLD005
Nail Disorder, Nonsyndromic Congenital, 3, NLD008
Nail Disorder, Nonsyndromic Congenital, 9 NLD006
Nail Dysplasia, Isolated Congenital NLD003
Nail-Patella Syndrome NLP001
Nakajo Syndrome NKJ001
Nance-Horan Syndrome NNC002
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
Nasopharyngeal Carcinoma NSP012
Nasopharyngeal Carcinoma 2 NSP009
Nasopharyngeal Carcinoma, 3 NSP014
Nasopharyngeal Disease NSP003
Nasopharyngitis NSP002
Nasu-Hakola Disease NSH001
Nat2-Related Altered Drug Metabolism NT2001
Native American Myopathy NTV001
Natural Killer Cell and Glucocorticoid Deficiency with Dna Repair Defect NTR029
Natural Killer Cell Leukemia NTR003
Naxos Disease NXS001
Ndp-Related Retinopathies NDP001
Ndp-Related Retinopathy of Prematurity NDP002
Ndufaf5-Related Mitochondrial Complex 1 Deficiency NDF001
Neb-Related Nemaline Myopathy NBR001
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 Ulcerative Gingivitis NCR001
Nefh-Related Amyotrophic Lateral Sclerosis, Susceptibility NFH001
Neisseria Meningitidis Infection NSS002
Nek9-Related Lethal Skeletal Dysplasia NK9001
Nelson Syndrome NLS001
Nemaline Myopathy NML001
Nemaline Myopathy 1, Autosomal Dominant or Recessive NML014
Nemaline Myopathy 10 NML022
Nemaline Myopathy 2, Autosomal Recessive NML009
Nemaline Myopathy 3, Autosomal Dominant or Recessive NML015
Nemaline Myopathy 4, Autosomal Dominant NML017
Nemaline Myopathy 5, Amish Type NML020
Nemaline Myopathy 6, Autosomal Dominant NML019
Nemaline Myopathy 7, Autosomal Recessive NML018
Nemaline Myopathy 8, Autosomal Recessive NML016
Nemaline Myopathy 9 NML021
Neonatal Abstinence Syndrome NNT008
Neonatal Adrenoleukodystrophy NNT017
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 Severe Cardiopulmonary Failure Due to Mitochondrial Methylation Defect NNT053
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, Type I NPH046
Nephrolithiasis, Uric Acid NPH078
Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 NPH056
Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 NPH042
Nephronophthisis NPH005
Nephronophthisis 1, Juvenile NPH048
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, Infantile NPH045
Nephronophthisis 3 NPH031
Nephronophthisis 4 NPH032
Nephronophthisis 7 NPH033
Nephronophthisis 8 NPH034
Nephronophthisis 9 NPH035
Nephronophthisis-Like Nephropathy 1 NPH037
Nephropathia Epidemica NPH004
Nephropathy Due to Cfhr5 Deficiency NPH066
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness NPH014
Nephropathy, Progressive, with Deafness NPH050
Nephrosclerosis NPH010
Nephrotic Syndrome 11 NPH083
Nephrotic Syndrome 12 NPH085
Nephrotic Syndrome 13 NPH084
Nephrotic Syndrome, Idiopathic, Steroid-Resistant NPH026
Nephrotic Syndrome, Type 1 NPH055
Nephrotic Syndrome, Type 10 NPH076
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
Nervous System Benign Neoplasm NRV012
Nervous System Cancer NRV006
Nervous System Disease NRV007
Nestor-Guillermo Progeria Syndrome NST002
Netherton Syndrome NTH001
Neu-Laxova Syndrome 2 NLX003
Neu-Laxova Syndrome1 NLX002
Neural Crest Tumor NRL008
Neural Tube Defects NRL016
Neural Tube Defects, Folate-Sensitive NRL018
Neurenteric Cyst NRN022
Neurilemmoma NRL005
Neuritis NRT004
Neuroaxonal Dystrophy NRX001
Neuroblastoma NRB001
Neuroblastoma 2 NRB015
Neuroblastoma 3 NRB014
Neuroblastoma 4 NRB011
Neuroblastoma 5 NRB012
Neuroblastoma 6 NRB013
Neuroblastoma, Susceptibility NRB002
Neurocutaneous Melanosis, Somatic NRC019
Neurodegeneration Due to Cerebral Folate Transport Deficiency NRD004
Neurodegeneration with Brain Iron Accululation 5 NRD015
Neurodegeneration with Brain Iron Accumulation 1 NRD017
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 6 NRD016
Neurodegeneration with Brain Iron Accumulation Disorders NRD011
Neurodegeneration with Optic Atrophy, Childhood Onset NRD013
Neurodermatitis NRD001
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion NRD020
Neuroendocrine Cell Hyperplasia of Infancy NRN023
Neuroendocrine Tumor NRN004
Neurofibroma NRF007
Neurofibromatosis-Noonan Syndrome NRF008
Neurofibromatosis, Familial Spinal NRF016
Neurofibromatosis, Type 1 NRF018
Neurofibromatosis, Type 2 NRF019
Neurofibrosarcoma NRF003
Neurogenic Arthropathy NRG003
Neurogenic Bladder NRG002
Neurogenic Bowel NRG001
Neurogenic Hypertension NRG005
Neuroleptic Malignant Syndrome NRL004
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 Iic NRN018
Neuronopathy, Distal Hereditary Motor, Type Iid NRN026
Neuronopathy, Distal Hereditary Motor, Type Vb NRN024
Neuronopathy, Distal Hereditary Motor, Type Vi NRN017
Neuronopathy, Distal Hereditary Motor, Type Viia NRN025
Neuropathy NRP001
Neuropathy with Hearing Impairment NRP028
Neuropathy, Ataxia, and Retinitis Pigmentosa NRP045
Neuropathy, Congenital Hypomyelinating NRP015
Neuropathy, Distal Hereditary Motor, Type Iia NRP020
Neuropathy, Distal Hereditary Motor, Type Iib NRP019
Neuropathy, Distal Hereditary Motor, Type Va NRP032
Neuropathy, Distal Hereditary Motor, Type Viib NRP022
Neuropathy, Hereditary Motor and Sensory, Russe Type NRP010
Neuropathy, Hereditary Motor and Sensory, Type Vib NRP043
Neuropathy, Hereditary Sensory and Autonomic, Type Ia NRP033
Neuropathy, Hereditary Sensory and Autonomic, Type Ic NRP040
Neuropathy, Hereditary Sensory and Autonomic, Type Ii NRP042
Neuropathy, Hereditary Sensory and Autonomic, Type Iib NRP018
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 Ib NRP030
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 NRP014
Neuropathy, Inflammatory Demyelinating NRP034
Neuropathy, Recurrent, with Pressure Palsies NRP016
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, Alloimmune Neonatal NTR014
Neutropenia, Cyclic NTR040
Neutropenia, Nonimmune Chronic Idiopathic, of Adults NTR013
Neutropenia, Severe Congenital 1, Autosomal Dominant NTR033
Neutropenia, Severe Congenital 2, Autosomal Dominant NTR037
Neutropenia, Severe Congenital 3, Autosomal Recessive NTR038
Neutropenia, Severe Congenital 4, Autosomal Recessive NTR039
Neutropenia, Severe Congenital 7, Autosomal Recessive NTR043
Neutropenia, Severe Congenital, 5, Autosomal Recessive NTR031
Neutropenia, Severe Congenital, 6, Autosomal Recessive NTR034
Neutropenia, Severe Congenital, X-Linked NTR036
Neutrophil Immunodeficiency Syndrome NTR006
Neutrophil-Specific Granule Deficiency NTR011
Neutrophilia, Hereditary NTR018
Neutrophilic Dermatosis, Acute Febrile NTR042
Nevus Comedonicus NVS015
Nevus of Ota NVS007
New Daily-Persistent Headache NWD001
Newborn Respiratory Distress Syndrome NWB001
Newcastle Disease NWC001
Newfoundland Rod-Cone Dystrophy NWF001
Nexn-Related Dilated Cardiomyopathy NXN001
Nexn-Related Familial Hypertrophic Cardiomyopathy NXN002
Nf-Kappa B Essential Modulator Deficiency NFK002
Nfkb2-Related Common Variable Immune Deficiency NFK001
Ngly1-Cdg NGL004
Nhlrc1-Related Lafora Disease NHL001
Nhp2-Related Dyskeratosis Congenita NHP001
Nicolaides-Baraitser Syndrome NCL006
Nicotine Dependence, Protection Against NCT008
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 , 1a, X-Linked NGH019
Night Blindness, Congenital Stationary , 1b, Autosomal Recessive NGH014
Night Blindness, Congenital Stationary , 1c, Autosomal Recessive NGH016
Night Blindness, Congenital Stationary , 1d, Autosomal Recessive NGH017
Night Blindness, Congenital Stationary , 1e, Autosomal Recessive NGH018
Night Blindness, Congenital Stationary , 1f, Autosomal Recessive NGH013
Night Blindness, Congenital Stationary , 2a, X-Linked NGH020
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 1g NGH022
Nijmegen Breakage Syndrome NJM001
Nijmegen Breakage Syndrome-Like Disorder NJM002
Nik Deficiency NKD001
Nipbl-Related Cornelia De Lange Syndrome NPB001
Nipples, Supernumerary NPP006
Nkx2-1-Related Disorders NKX001
Nlgn4-Related X-Linked Mental Retardation NLG001
Nmnat1-Related Leber Congenital Amaurosis NMN007
Nocardiosis NCR004
Nodal Marginal Zone B-Cell Lymphoma NDL020
Nodal-Related Holoprosencephaly NDL014
Nodal-Related Visceral Heterotaxy NDL015
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 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
Nondystrophic Myotonia NND001
Nonepidermolytic Palmoplantar Hyperkeratosis NNP006
Nonseminomatous Germ Cell Tumor NNS011
Nonspecific Interstitial Pneumonia NNS002
Nonsyndromic Deafness NNS007
Nonsyndromic Hearing Loss and Deafness NNS014
Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant NNS015
Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive NNS016
Nonsyndromic Hearing Loss and Deafness, Dfna3 NNS008
Nonsyndromic Hearing Loss and Deafness, Dfnb1 NNS009
Nonsyndromic Hearing Loss and Deafness, Mitochondrial NNS010
Nonsyndromic Hydrocephalus, Ccdc88c-Related NNS028
Nonsyndromic Hydrocephalus, Mpdz-Related NNS036
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 or Without Juvenile Myelomonocytic Leukemia NNN022
Noonan-Like Syndrome with Loose Anagen Hair NNN014
Noonan-Like/multiple Giant Cell Lesion Syndrome NNN015
Nop10-Related Dyskeratosis Congenita NP1001
nor Polyagglutination Syndrome NRP035
Normal Pressure Hydrocephalus NRM002
Normokalemic Periodic Paralysis NRM009
Normosmic Congenital Hypogonadotropic Hypogonadism NRM018
Norrie Disease NRR002
Norse NRS006
Norum Disease NRM003
Norwegian Scabies NRW001
Nose Disease NSD001
Nosophobia NSP004
Notch2-Related Alagille Syndrome NTC001
Nphp1-Related Joubert Syndrome NPH040
Nphp3-Related Meckel Syndrome NPH041
Npm1-Related Acute Myeloid Leukemia NPM001
Nppa-Related Familial Atrial Fibrillation 6 NPP005
Nr0b1-Related 46,xy Dsd and 46,xy Cgd NR0001
Nr2e3-Related Retinitis Pigmentosa NR2001
Nr5a1-Related 46,xy Dsd and 46,xy Cgd NR5001
Nras-Related Noonan Syndrome NRS004
Nrl-Related Retinitis Pigmentosa NRL010
Nrtn-Related Hirschsprung Disease NRT008
Nsdhl-Related Disorders NSD002
Nsmf-Related Isolated Gonadotropin-Releasing Hormone Deficiency NSM001
Ntrk1-Related Familial Medullary Thyroid Carcinoma NTR012
Nuclear Gene-Encoded Leigh Syndrome NCL007
Nuclear Senile Cataract NCL001
Null Pituitary Adenoma NLL003
Null Syndrome NLL002
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
Nyx-Related X-Linked Congenital Stationary Night Blindness NYX001