| Disease Name |
Symbol |
Acronym |
| N Syndrome |
NSY001 |
NSX |
| N-acetylglutamate Synthase Deficiency |
NCT003 |
|
| Nablus Mask-like Facial Syndrome |
NBL001 |
|
| Naegeli Syndrome |
NGL002 |
NFJS |
| Naegeli-franceschetti-jadassohn Syndrome |
NGL001 |
|
| Nail Disease |
NLD001 |
|
| Nail Dysplasia |
NLD002 |
|
| Nail Dysplasia, Isolated Congenital |
NLD003 |
|
| Nail-patella Syndrome |
NLP001 |
NPS 1 |
| Nakajo Syndrome |
NKJ001 |
|
| Nance-horan Syndrome |
NNC002 |
NH |
| Nanophthalmos 3 |
NNP008 |
|
| Nanophthalmos-1 |
NNP007 |
|
| Narcissistic Personality Disorder |
NRC003 |
|
| Narcolepsy |
NRC002 |
|
| Narcolepsy 1 |
NRC009 |
|
| Narcolepsy 2 |
NRC010 |
|
| Narcolepsy 3 |
NRC011 |
|
| Narcolepsy 4 |
NRC012 |
|
| Narcolepsy 5 |
NRC013 |
|
| Nasal Cavity Adenocarcinoma |
NSL003 |
|
| Nasal Cavity Lymphoma |
NSL004 |
|
| Nasal Cavity Neoplasm |
NSL010 |
|
| Nasal Cavity Squamous Cell Carcinoma |
NSL006 |
|
| Nasopharyngeal Carcinoma 1 |
NSP007 |
|
| Nasopharyngeal Disease |
NSP003 |
|
| Nasopharyngitis |
NSP002 |
|
| Nasopharynx Carcinoma |
NSP001 |
|
| Nasu-hakola Disease |
NSH001 |
NHD |
| Natural Killer Cell Leukemia |
NTR003 |
|
| Natural Teeth Remaining Intact |
NTR017 |
|
| Navajo Neurohepatopathy |
NVJ001 |
NN |
| Naxos Disease |
NXS001 |
|
| Ndp-related Retinopathies |
NDP001 |
|
| Necatoriasis |
NCT001 |
|
| Necrobiosis Lipoidica |
NCR002 |
|
| Necrobiotic Xanthogranuloma |
NCR009 |
NXG |
| Necrotizing Fasciitis |
NCR007 |
|
| Necrotizing Gastritis |
NCR005 |
|
| Necrotizing Ulcerative Gingivitis |
NCR001 |
ANUG |
| Nelson Syndrome |
NLS001 |
|
| Nemaline Myopathy |
NML001 |
|
| Nemaline Myopathy 1 |
NML002 |
NEM1 |
| Nemaline Myopathy 1, Autosomal Dominant |
NML008 |
|
| Nemaline Myopathy 2 |
NML003 |
NEM2 |
| Nemaline Myopathy 2, Autosomal Recessive |
NML009 |
|
| Nemaline Myopathy 6 |
NML007 |
NEM6 |
| Neonatal Abstinence Syndrome |
NNT008 |
|
| Neonatal Adrenoleukodystrophy |
NNT017 |
NALD |
| Neonatal Alloimmune Thrombocytopenia |
NNT014 |
|
| Neonatal Anemia |
NNT011 |
|
| Neonatal Candidiasis |
NNT005 |
|
| Neonatal Diabetes Mellitus |
NNT009 |
|
| Neonatal Hemochromatosis |
NNT016 |
NH |
| Neonatal Herpes |
NNT018 |
|
| Neonatal Hypothyroidism |
NNT019 |
|
| Neonatal Ichthyosis-sclerosing Cholangitis Syndrome |
NNT015 |
|
| Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency |
NNT020 |
NICCD |
| Neonatal Jaundice |
NNT012 |
|
| Neonatal Leukemia |
NNT007 |
|
| Neonatal Meningitis |
NNT021 |
|
| Neonatal Myasthenia Gravis |
NNT006 |
|
| Neonatal Ovarian Cyst |
NNT022 |
|
| Neonatal Progeroid Syndrome |
NNT023 |
|
| Neonatal Respiratory Failure |
NNT004 |
|
| Neonatal Stroke |
NNT024 |
|
| Neonatal Thyrotoxicosis |
NNT003 |
|
| Neovascular Glaucoma |
NVS001 |
|
| Nephritis |
NPH051 |
|
| Nephroblastoma |
NPH011 |
|
| Nephrocalcinosis |
NPH003 |
|
| Nephrogenic Adenofibroma |
NPH006 |
|
| Nephrogenic Adenoma |
NPH001 |
|
| Nephrogenic Adenoma of the Urethra |
NPH008 |
|
| Nephrogenic Diabetes Insipidus |
NPH007 |
NDI |
| Nephrogenic Syndrome of Inappropriate Antidiuresis |
NPH013 |
|
| Nephrogenic Systemic Fibrosis |
NPH018 |
NFD |
| Nephrolithiasis |
NPH009 |
|
| Nephrolithiasis, Type I |
NPH046 |
|
| Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 |
NPH042 |
|
| Nephronophthisis |
NPH005 |
MCKD |
| Nephronophthisis 1 |
NPH019 |
NPH1 |
| Nephronophthisis 1, Juvenile |
NPH048 |
|
| Nephronophthisis 2 |
NPH030 |
NPH2 |
| Nephronophthisis 2, Infantile |
NPH045 |
|
| Nephronophthisis 3 |
NPH031 |
NPH3 |
| Nephronophthisis 4 |
NPH032 |
NPH4 |
| Nephronophthisis 7 |
NPH033 |
NPHP7 |
| Nephronophthisis 9 |
NPH035 |
NPHP9 |
| Nephronophthisis-like Nephropathy 1 |
NPH037 |
|
| Nephronopthisis |
NPH052 |
|
| Nephropathia Epidemica |
NPH004 |
|
| Nephropathic Cystinosis |
NPH021 |
CTNS |
| Nephropathy |
NPH015 |
|
| Nephropathy with Pretibial Epidermolysis Bullosa and Deafness |
NPH014 |
|
| Nephropathy-hypertension |
NPH016 |
|
| Nephropathy, Progressive, with Deafness |
NPH050 |
|
| Nephrosclerosis |
NPH010 |
|
| Nephrosis |
NPH017 |
|
| Nephrosis, Congenital, with or Without Ocular Abnormalities |
NPH043 |
|
| Nephrotic Syndrome |
NPH012 |
|
| Nephrotic Syndrome Type 3 |
NPH038 |
NPHS3 |
| Nephrotic Syndrome, Type 2 |
NPH049 |
|
| Nephrotic Syndrome, Type 4 |
NPH047 |
|
| Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities |
NPH039 |
NPHS5 |
| Nerve Compression Syndrome |
NRV004 |
|
| Nervous System Cancer |
NRV006 |
|
| Nervous System Disease |
NRV007 |
|
| Nestor-guillermo Progeria Syndrome |
NST002 |
NGPS |
| Netherton Syndrome |
NTH001 |
NETH |
| Neural Crest Tumor |
NRL008 |
|
| Neural Tube Defect |
NRL009 |
|
| Neural Tube Defects, Folate-sensitive |
NRL018 |
|
| Neurilemmoma |
NRL005 |
|
| Neurilemmomatosis |
NRL002 |
|
| Neuritis |
NRT004 |
|
| Neuroacanthocytosis |
NRC005 |
|
| Neuroaxonal Dystrophy |
NRX001 |
|
| Neuroaxonal Dystrophy, Infantile |
NRX003 |
INAD |
| Neuroblastoma |
NRB001 |
NB |
| Neuroblastoma 1 |
NRB010 |
|
| Neuroblastoma 2 |
NRB015 |
|
| Neuroblastoma 5 |
NRB012 |
|
| Neuroblastoma, Susceptibility |
NRB002 |
|
| Neurocirculatory Asthenia |
NRC001 |
|
| Neurodegeneration |
NRD003 |
|
| Neurodegenerative Disease |
NRD002 |
|
| Neurodermatitis |
NRD001 |
|
| Neuroectodermal Tumors |
NRC004 |
|
| Neuroendocrine Carcinoma |
NRN001 |
|
| Neuroendocrine Carcinoma of the Cervix |
NRN006 |
|
| Neuroendocrine Tumor |
NRN004 |
|
| Neuroepithelioma |
NRP002 |
|
| Neuroferritinopathy |
NRF009 |
NBIA3 |
| Neurofibroma |
NRF007 |
|
| Neurofibromatosis |
NRF002 |
NF1 |
| Neurofibromatosis Type 5 |
NRF013 |
NF5 |
| Neurofibromatosis-noonan Syndrome |
NRF008 |
NFNS |
| Neurofibrosarcoma |
NRF003 |
|
| Neurogenic Bladder |
NRG002 |
|
| Neurogenic Bowel |
NRG001 |
|
| Neurogenic Diabetes Insipidus |
NRG004 |
|
| Neurogenic Hypertension |
NRG005 |
|
| Neurohypophyseal Diabetes Insipidus |
NRH001 |
|
| Neuroleptic Malignant Syndrome |
NRL004 |
|
| Neurologic Diseases |
NRL007 |
|
| Neuroma |
NRM004 |
|
| Neuromuscular Disease |
NRM005 |
|
| Neuromyelitis Optica |
NRM001 |
|
| Neuromyelitis Optica Spectrum Disorder |
NRM008 |
NMOSD |
| Neuronal Ceroid-lipofuscinoses |
NRN005 |
NCL |
| Neuronal Ceroid-lipofuscinosis |
NRN003 |
|
| Neuronal Ceroid-lipofuscinosis, Infantile |
NRN014 |
INCL |
| Neuronal Intranuclear Inclusion Disease |
NRN008 |
NIID |
| Neuronal Migration Disorders |
NRN016 |
|
| Neuronitis |
NRN002 |
|
| Neuropathy |
NRP001 |
|
| Neuropathy Hereditary Sensory and Autonomic Type 1 |
NRP004 |
HSAN |
| Neuropathy, Congenital Hypomyelinating, 1 |
NRP013 |
|
| Neuropathy, Distal Hereditary Motor, Jerash Type |
NRP007 |
HMNJ |
| Neuropathy, Hereditary Motor and Sensory, Okinawa Type |
NRP009 |
HMSNO |
| Neuropathy, Hereditary Motor and Sensory, Russe Type |
NRP010 |
HMSNR |
| Neuropathy, Hereditary Sensory, with Spastic Paraplegia |
NRP014 |
|
| Neuropathy, Motor and Sensory, Russe Type |
NRP017 |
|
| Neuropathy, Paraneoplastic Sensory |
NRP012 |
|
| Neuropathy, Recurrent, with Pressure Palsies |
NRP016 |
|
| Neuroretinitis |
NRR001 |
|
| Neurosarcoidosis |
NRS005 |
|
| Neutral Endopeptidase Deficiency |
NTR016 |
|
| Neutral Lipid Storage Disease |
NTR001 |
CDS |
| Neutral Lipid Storage Disease with Myopathy |
NTR007 |
NLSDM |
| Neutropenia |
NTR004 |
|
| Neutropenia, Neonatal Alloimmune |
NTR020 |
|
| Neutropenia, Nonimmune Chronic Idiopathic, of Adults |
NTR013 |
|
| Neutropenia, Severe Congenital, Autosomal Dominant 1 |
NTR015 |
|
| Neutrophil Immunodeficiency Syndrome |
NTR006 |
|
| Neutrophil-specific Granule Deficiency |
NTR011 |
|
| Neutrophilia, Hereditary |
NTR018 |
|
| Nevo Syndrome |
NVS002 |
|
| Nevoid Basal Cell Carcinoma Syndrome |
NVD001 |
BCNS |
| Nevus |
NVS003 |
NEVUS |
| Nevus, Keratinocytic, Nonepidermolytic |
NVS006 |
|
| New Daily-persistent Headache |
NWD001 |
NDPH |
| Newborn Respiratory Distress Syndrome |
NWB001 |
|
| Newcastle Disease |
NWC001 |
|
| Newfoundland Rod-cone Dystrophy |
NWF001 |
|
| Nicolaides Baraitser Syndrome |
NCL003 |
NCBRS |
| Nicotine Addiction |
NCT012 |
|
| Nicotine Addiction, Protection from |
NCT009 |
|
| Nicotine Dependence |
NCT002 |
|
| Nicotine Dependence, Protection Against |
NCT008 |
|
| Niemann-pick Disease |
NMN002 |
|
| Niemann-pick Disease Type C1 |
NMN004 |
NPC1 |
| Niemann-pick Disease Type C2 |
NMN005 |
NPC2 |
| Niemann-pick Disease Type D |
NMN006 |
|
| Night Blindness |
NGH001 |
|
| Night Blindness, Congenital Stationary, Type 1 |
NGH006 |
|
| Night Blindness, Congenital Stationary, Type Ic |
NGH005 |
|
| Night Blindness, Congenital Stationary, X-linked, Type 2a |
NGH003 |
|
| Night Blindness, Congenital Stationery, Autosomal Dominant 1 |
NGH004 |
|
| Nijmegen Breakage Syndrome |
NJM001 |
|
| Nijmegen Breakage Syndrome-like Disorder |
NJM002 |
|
| Nocardiosis |
NCR004 |
|
| Nodular Basal Cell Carcinoma |
NDL009 |
|
| Nodular Goiter |
NDL007 |
|
| Nodular Hidradenoma |
NDL010 |
|
| Nodular Malignant Melanoma |
NDL001 |
|
| Nodular Melanoma |
NDL012 |
|
| Nodular Prostate |
NDL006 |
|
| Nodular Regenerative Hyperplasia |
NDL013 |
|
| Nodular Tenosynovitis |
NDL002 |
|
| Noma |
NM001 |
NOMA |
| Nominal Aphasia |
NMN001 |
|
| Non-a-e Hepatitis |
NNH002 |
|
| Non-gestational Choriocarcinoma |
NNG001 |
|
| Non-hodgkin Lymphoma |
NNH001 |
|
| Non-hodgkin Lymphoma, Childhood |
NNH003 |
|
| Non-invasive Bladder Papillary Urothelial Neoplasm |
NNN005 |
|
| Non-langerhans-cell Histiocytosis |
NNL001 |
|
| Non-small Cell Lung Carcinoma |
NNS005 |
NSCLC |
| Nonaka Myopathy |
NNK001 |
|
| Nonalcoholic Steatohepatitis |
NNL002 |
NASH |
| Nonarteritic Anterior Ischemic Optic Neuropathy |
NNR004 |
|
| Noncompaction of Left Ventricular Myocardium |
NNC003 |
|
| Nondystrophic Myotonia |
NND001 |
NDM |
| Nonepidermolytic Palmoplantar Keratoderma |
NNP003 |
|
| Nonpapillary Renal Cell Carcinoma |
NNP001 |
|
| Nonphotosensitive Trichothiodystrophy |
NNP004 |
TTDN1 |
| Nonseminomatous Germ Cell Tumor |
NNS011 |
NSGCT |
| Nonsmall Cell Lung Cancer, Response to Tyrosine Kinase Inhibitor in |
NNS021 |
|
| Nonsmall Cell Lung Cancer, Somatic |
NNS020 |
|
| Nonspecific Interstitial Pneumonia |
NNS002 |
NSIP |
| Nonsyndromic Deafness |
NNS007 |
|
| Nonsyndromic Hearing Loss and Deafness |
NNS014 |
|
| Nonsyndromic Hearing Loss and Deafness, Mitochondrial |
NNS010 |
|
| Nontoxic Goiter |
NNT010 |
|
| Noonan Syndrome |
NNN003 |
|
| Noonan Syndrome 1 |
NNN008 |
NS1 |
| Noonan Syndrome 2 |
NNN009 |
NS2 |
| Noonan Syndrome 3 |
NNN010 |
NS3 |
| Noonan Syndrome 4 |
NNN011 |
NS4 |
| Noonan Syndrome 5 |
NNN012 |
NS5 |
| Noonan Syndrome 6 |
NNN013 |
NS6 |
| Noonan Syndrome-like Disorder |
NNN019 |
|
| Noonan-like Syndrome with Loose Anagen Hair |
NNN014 |
|
| Noonan-like/multiple Giant Cell Lesion Syndrome |
NNN015 |
|
| Normal Pressure Hydrocephalus |
NRM002 |
|
| Normokalemic Periodic Paralysis |
NRM009 |
|
| Normophosphatemic Familial Tumoral Calcinosis |
NRM010 |
NFTC |
| Norrie Disease |
NRR002 |
NDP |
| North American Indian Childhood Cirrhosis |
NRT006 |
NAIC |
| North Carolina Macular Dystrophy |
NRT005 |
NCMD |
| Norum Disease |
NRM003 |
|
| Norwalk Virus Infection, Resistance to |
NRW002 |
|
| Norwegian Scabies |
NRW001 |
|
| Novelty Seeking Personality |
NVL001 |
|
| Nucleoside Phosphorylase Deficiency |
NCL002 |
|
| Null-cell Leukemia |
NLL001 |
|
| Nutrition Disease |
NTR021 |
|
| Nystagmus |
NYS001 |
|
| Nystagmus 1, Congenital, X- Linked |
NYS002 |
NYS1 |
| Nystagmus 2, Congenital, Autosomal Dominant |
NYS003 |
NYS2 |
| Nystagmus 3, Congenital |
NYS010 |
|
| Nystagmus 3, Congenital, Autosomal Dominant |
NYS004 |
NYS3 |
| Nystagmus 4, Congenital |
NYS011 |
|
| Nystagmus 4, Congenital, Autosomal Dominant |
NYS005 |
NYS4 |
| Nystagmus 5, Congenital, X-linked |
NYS012 |
|
| Nystagmus-2, Autosomal Dominant |
NYS009 |
|
