Disease Name Symbol Acronym
N Acetyltransferase Deficiency NCT004
N Syndrome NSY001 NSX
N,n'-Diethylthiourea Allergic Contact Dermatitis NND012
N,n'-Diphenylthiourea Allergic Contact Dermatitis NND011
Nablus Mask-Like Facial Syndrome NBL001 NMLFS
N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii NCT005
N-Acetylaspartate Deficiency NCT013 NACED
N-Acetylglutamate Synthase Deficiency NCT003 NAGSD
Nad Hx Dehydratase Deficiency NDH002
Nad Hx Epimerase Deficiency NDH003
Naegeli-Franceschetti-Jadassohn Syndrome NGL001 NFJS
Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis NGL003 DPR
Nail Disease NLD001
Nail Disorder, Nonsyndromic Congenital, 1 NLD009 NDNC1
Nail Disorder, Nonsyndromic Congenital, 10 NLD016 NDNC10
Nail Disorder, Nonsyndromic Congenital, 2 NLD011 NDNC2
Nail Disorder, Nonsyndromic Congenital, 3 NLD012 NDNC3
Nail Disorder, Nonsyndromic Congenital, 4 NLD014 NDNC4
Nail Disorder, Nonsyndromic Congenital, 5 NLD013 NDNC5
Nail Disorder, Nonsyndromic Congenital, 6 NLD010 NDNC6
Nail Disorder, Nonsyndromic Congenital, 7 NLD007 NDNC7
Nail Disorder, Nonsyndromic Congenital, 8 NLD015 NDNC8
Nail Disorder, Nonsyndromic Congenital, 9 NLD006 NDNC9
Nail Dysplasia, Isolated Congenital NLD003
Nail High-Sulfur Protein NLH001
Nail Low-Sulfur Protein NLL004
Nailbeds, Pigmentation of NLB001
Nail-Patella Syndrome NLP001 NPS
Nail-Patella-Like Renal Disease NLP003
Nakajo Syndrome NKJ001
Nance-Horan Syndrome NNC002 NHS
Nanophthalmos 1 NNP017 NNO1
Nanophthalmos 2 NNP011 NNO2
Nanophthalmos 3 NNP008 NNO3
Nanophthalmos 4 NNP012 NNO4
Narcissistic Personality Disorder NRC003
Narcolepsy NRC002
Narcolepsy 1 NRC009 NRCLP1
Narcolepsy 2 NRC010 NRCLP2
Narcolepsy 3 NRC011 NRCLP3
Narcolepsy 4 NRC012 NRCLP4
Narcolepsy 5 NRC013 NRCLP5
Narcolepsy 6 NRC018 NRCLP6
Narcolepsy 7 NRC017 NRCLP7
Nasal Alar Collapse, Bilateral NSL023
Nasal Bones, Absence of NSL024
Nasal Cavity Adenocarcinoma NSL003
Nasal Cavity Cancer NSL008
Nasal Cavity Cancer, Childhood NSL011
Nasal Cavity Carcinoma in Situ NSL007
Nasal Cavity Disease NSL022
Nasal Cavity Inverting Papilloma NSL001
Nasal Cavity Lymphoma NSL004
Nasal Cavity Neoplasm NSL010
Nasal Cavity Olfactory Neuroblastoma NSL005
Nasal Cavity Squamous Cell Carcinoma NSL006
Nasal Dorsum Fistula NSL027
Nasal Encephalocele NSL021
Nasal Ganglioglioma NSL019
Nasal Glial Heterotopia NSL020
Nasal Groove, Familial Transverse NSL025
Nasal Hyperpigmentation, Familial Transverse NSL026
Nasal Polyposis, Familial NSL012
Nasal Vestibule Papilloma NSL002
Nasodigitoacoustic Syndrome NSD003
Nasolacrimal Duct Cyst NSL017
Nasopalpebral Lipoma-Coloboma Syndrome NSP016 NPLCS
Nasopharyngeal Cancer, Childhood NSP006
Nasopharyngeal Carcinoma NSP012 NPC
Nasopharyngeal Carcinoma 2 NSP009 NPCA2
Nasopharyngeal Carcinoma 3 NSP015 NPCA3
Nasopharyngeal Disease NSP003
Nasopharyngeal Teratoma NSP010
Nasopharyngitis NSP002
Natal Teeth, Intestinal Pseudoobstruction and Patent Ductus NTL002
Nathalie Syndrome NTH002
Natowicz Syndrome NTW001
Natural Killer Cell Leukemia NTR003 ANKL
Navicular Bone, Accessory NVC001
Naxos Disease NXS001 NXD
Nbia/dyt/park-Pla2g6 NBD001
Ndp-Related Retinopathies NDP001
Necatoriasis NCT001
Necrobiosis Lipoidica NCR002
Necrobiotic Xanthogranuloma NCR009 NXG
Necrosis of Ear Ossicle NCR006
Necrotic Uveal Melanoma NCR008
Necrotizing Autoimmune Myopathy NCR015 NAM
Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult NCR016
Necrotizing Fasciitis NCR007
Necrotizing Gastritis NCR005
Necrotizing Sialometaplasia NCR003
Necrotizing Soft Tissue Infection NCR014 NSTI
Necrotizing Ulcerative Gingivitis NCR001 ANUG
Negative Rheumatoid Factor Polyarthritis NGT001
Neisseria Meningitidis Infection NSS002
Nelson Syndrome NLS001
Nemaline Myopathy NML001 NM
Nemaline Myopathy 1 NML002 NEM1
Nemaline Myopathy 10 NML022 NEM10
Nemaline Myopathy 11, Autosomal Recessive NML024 NEM11
Nemaline Myopathy 2 NML003 NEM2
Nemaline Myopathy 3 NML004 NEM3
Nemaline Myopathy 4 NML005 NEM4
Nemaline Myopathy 5 NML006 NEM5
Nemaline Myopathy 6 NML007 NEM6
Nemaline Myopathy 7 NML010 NEM7
Nemaline Myopathy 8 NML025 NEM8
Nemaline Myopathy 9 NML021 NEM9
Neomycin Sulfate Allergic Contact Dermatitis NMY001
Neonatal Abstinence Syndrome NNT008
Neonatal Adrenoleukodystrophy NNT017 NALD
Neonatal Alloimmune Neutropenia NNT054
Neonatal Anemia NNT011
Neonatal Antiphospholipid Syndrome NNT044
Neonatal Autoimmune Hemolytic Anemia NNT045
Neonatal Brainstem Dysfunction NNT034
Neonatal Candidiasis NNT005
Neonatal Dermatomyositis NNT046
Neonatal Diabetes Mellitus NNT009 NDM
Neonatal Epilepsy Syndrome NNT056
Neonatal Epileptic Encephalopathy Due to Glutaminase Deficiency NNT055
Neonatal Herpes NNT018
Neonatal Hypoxic and Ischemic Brain Injury NNT033 HIE
Neonatal Infective Mastitis NNT001
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 Osteosclerotic Dysplasia NNT057
Neonatal Ovarian Cyst NNT022
Neonatal Period Electroclinical Syndrome NNT041
Neonatal Respiratory Failure NNT004
Neonatal Scleroderma NNT043
Neonatal Stroke NNT024 NIS
Neonatal Systemic Lupus Erythematosus NNT025
Neonatal Thyrotoxicosis NNT003
Neonatal Urinary Tract Infectious Disease NNT002
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 NSIAD
Nephrogenic Systemic Fibrosis NPH018 NFD
Nephrolithiasis, Calcium Oxalate NPH091 CAON
Nephrolithiasis, Uric Acid NPH078 UAN
Nephrolithiasis, X-Linked Recessive, with Renal Failure NPH098 XRN
Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 NPH056 NPHLOP1
Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 NPH042 NPHLOP2
Nephronophthisis NPH005 NPH
Nephronophthisis 1 NPH019 NPHP1
Nephronophthisis 11 NPH053 NPHP11
Nephronophthisis 12 NPH067 NPHP12
Nephronophthisis 13 NPH065 NPHP13
Nephronophthisis 14 NPH071 NPHP14
Nephronophthisis 15 NPH069 NPHP15
Nephronophthisis 16 NPH068 NPHP16
Nephronophthisis 18 NPH075 NPHP18
Nephronophthisis 19 NPH077 NPHP19
Nephronophthisis 2 NPH030 NPHP2
Nephronophthisis 20 NPH086 NPHP20
Nephronophthisis 3 NPH031 NPHP3
Nephronophthisis 4 NPH032 NPHP4
Nephronophthisis 7 NPH033 NPHP7
Nephronophthisis 9 NPH035 NPHP9
Nephronophthisis-Like Nephropathy 1 NPH037 NPHPL1
Nephropathy Secondary to a Storage or Other Metabolic Disease NPH110
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness NPH014 NPEBD
Nephropathy, Chronic Tubulointerstitial NPH099
Nephropathy, Deafness, and Hyperparathyroidism NPH023
Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease NPH100
Nephropathy, Progressive, with Deafness NPH050 NEDE
Nephropathy-Associated Ciliopathy NPH109
Nephrosclerosis NPH010
Nephrosialidosis NPH097
Nephrosis with Deafness and Urinary Tract and Digital Malformations NPH082
Nephrotic Syndrome NPH012
Nephrotic Syndrome Ocular Anomalies NPH025
Nephrotic Syndrome, Idiopathic, Steroid-Resistant NPH026 SRN1
Nephrotic Syndrome, Type 1 NPH055 NPHS1
Nephrotic Syndrome, Type 10 NPH076 NPHS10
Nephrotic Syndrome, Type 11 NPH095 NPHS11
Nephrotic Syndrome, Type 12 NPH096 NPHS12
Nephrotic Syndrome, Type 13 NPH093 NPHS13
Nephrotic Syndrome, Type 14 NPH102 NPHS14
Nephrotic Syndrome, Type 15 NPH103 NPHS15
Nephrotic Syndrome, Type 16 NPH104 NPHS16
Nephrotic Syndrome, Type 17 NPH105 NPHS17
Nephrotic Syndrome, Type 18 NPH106 NPHS18
Nephrotic Syndrome, Type 19 NPH107 NPHS19
Nephrotic Syndrome, Type 2 NPH049 NPHS2
Nephrotic Syndrome, Type 20 NPH108 NPHS20
Nephrotic Syndrome, Type 3 NPH054 NPHS3
Nephrotic Syndrome, Type 4 NPH047 NPHS4
Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities NPH039 NPHS5
Nephrotic Syndrome, Type 6 NPH070 NPHS6
Nephrotic Syndrome, Type 7 NPH072 NPHS7
Nephrotic Syndrome, Type 8 NPH073 NPHS8
Nephrotic Syndrome, Type 9 NPH074 NPHS9
Nerve Compression Syndrome NRV004
Nerve Fibre Bundle Defect NRV002
Nerve Growth Factor, Alpha Subunit NRV013 NGFA
Nerve Plexus Neoplasm NRV005
Nerve Root Neoplasm NRV001
Nervous System Cancer NRV006
Nervous System Disease NRV007
Nervous System Hibernoma NRV003
Nested Variant Infiltrating Bladder Urothelial Carcinoma NST001
Nestor-Guillermo Progeria Syndrome NST002 NGPS
Netherton Syndrome NTH001 NETH
Neu-Laxova Syndrome 1 NLX004 NLS1
Neu-Laxova Syndrome 2 NLX003 NLS2
Neural Crest Tumor NRL008
Neural Tube Closure Defect NRL025
Neural Tube Defects NRL016 NTD
Neural Tube Defects, Folate-Sensitive NRL018 NTDFS
Neural Tube Defects, X-Linked NRL022
Neuraminidase Deficiency NRM019 SIALIDOSIS
Neurenteric Cyst NRN022
Neurilemmoma NRL005
Neurilemmoma of the Fifth Cranial Nerve NRL001
Neurilemmoma of the Pleura NRL003
Neurilemmomatosis NRL002 NF3
Neuritis NRT004
Neuroaspergillosis NRS002
Neuroaxonal Dystrophy NRX001
Neuroaxonal Dystrophy Renal Tubular Acidosis NRX002
Neuroblastoma 1 NRB010 NBLST1
Neuroblastoma 2 NRB015 NBLST2
Neuroblastoma 3 NRB014 NBLST3
Neuroblastoma 4 NRB011 NBLST4
Neuroblastoma 5 NRB012 NBLST5
Neuroblastoma 6 NRB013 NBLST6
Neuroblastoma 7 NRB016 NBLST7
Neurocutaneous Syndrome with Epilepsy NRC021
Neurodegeneration Due to Cerebral Folate Transport Deficiency NRD004 NCFTD
Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset NRD027 NADGP
Neurodegeneration with Brain Iron Accumulation NRD007 NBIA
Neurodegeneration with Brain Iron Accumulation 1 NRD017 NBIA1
Neurodegeneration with Brain Iron Accumulation 2a NRD033 NBIA2A
Neurodegeneration with Brain Iron Accumulation 2b NRD009 NBIA2B
Neurodegeneration with Brain Iron Accumulation 3 NRD008 NBIA3
Neurodegeneration with Brain Iron Accumulation 4 NRD014 NBIA4
Neurodegeneration with Brain Iron Accumulation 5 NRD032 NBIA5
Neurodegeneration with Brain Iron Accumulation 6 NRD016 NBIA6
Neurodegeneration with Brain Iron Accumulation 7 NRD047 NBIA7
Neurodegeneration with Brain Iron Accumulation 8 NRD048 NBIA8
Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures NRD058 CONDSIAS
Neurodegeneration, Childhood-Onset, with Brain Atrophy NRD030 CONDBA
Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy NRD059 CONDCA
Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia NRD068 NDCAMA
Neurodegenerative Disease with Chorea NRD074
Neurodegenerative Disease with Dementia NRD075
Neurodermatitis NRD001
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities NRD061 NEDLBA
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter NRD040 NDAGSCW
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction NRD062 NEDCPMD
Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures NRD052 NEDCAS
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities NRD072 NEDCFSA
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies NRD037 NEDDFL
Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum NRD055 NEDEHCC
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination NRD031 NECFM
Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness NRD051 NEDHND
Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language NRD023 NDHSAL
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia NRD060 NEDIDHA
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements NRD066 NEDISHM
Neurodevelopmental Disorder with Involuntary Movements NRD029 NEDIM
Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies NRD070 NEDMIBA
Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures NRD035 NEDMAS
Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities NRD046 NEDMCR
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy NRD042 NEDMEBA
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination NRD063 NEDMEHM
Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies NRD026 NMIHBA
Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy NRD038 NDMSCA
Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations NRD025 NEDMHM
Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features NRD044 NEDMAGA
Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart NRD024 NEDBEH
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant NRD034 NDHMSD
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive NRD041 NDHMSR
Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities NRD043 NEDSGA
Neurodevelopmental Disorder with or Without Variable Brain Abnormalities NRD067 NEDBA
Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills NRD045 NDPLHS
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies NRD028 NDMSBA
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures NRD054 NEDAMSS
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements NRD071 NEDNEH
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment NRD069 NEDSSWI
Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language NRD039 NEDMIAL
Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects NRD057 NEDSDV
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or Without Seizures NRD049 NEDSBAS
Neurodevelopmental Disorder with Spasticity and Poor Growth NRD053 NEDSG
Neurodevelopmental Disorder with Visual Defects and Brain Anomalies NRD073 NEDVIBA
Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures NRD036 NEMMLAS
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities NRD056 NEDXCF
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion NRD064
Neuroectodermal Endocrine Syndrome NRC007
Neuroendocrine Carcinoma NRN001
Neuroendocrine Carcinoma of Pancreas NRN044
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia NRN039
Neuroendocrine Carcinoma of the Cervix NRN006
Neuroendocrine Cell Hyperplasia of Infancy NRN023 NCHI
Neuroendocrine Neoplasm of Appendix NRN045
Neuroendocrine Neoplasm of Esophagus NRN043
Neuroendocrine Neoplasm of Pancreas NRN047 PNEN
Neuroendocrine Tumor NRN004
Neuroendocrine Tumor of Anal Canal NRN032
Neuroendocrine Tumor of the Colon NRN033
Neuroendocrine Tumor with Other Location NRN048
Neurofaciodigitorenal Syndrome NRF010
Neurofibroma NRF007
Neurofibroma of Gallbladder NRF005
Neurofibroma of Spinal Cord NRF001
Neurofibroma of the Esophagus NRF004
Neurofibroma of the Heart NRF006
Neurofibromatosis, Familial Spinal NRF016 FSNF
Neurofibromatosis, Type I NRF024 NF1
Neurofibromatosis, Type Ii NRF023 NF2
Neurofibromatosis, Type Iii, Mixed Central and Peripheral NRF025 NF3A
Neurofibromatosis, Type Iv, of Riccardi NRF026 NF4
Neurofibromatosis-Noonan Syndrome NRF008 NFNS
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome NRF015
Neurofibrosarcoma NRF003
Neurogenic Arthropathy NRG003
Neurogenic Bladder NRG002
Neurogenic Bowel NRG001
Neurogenic Palpebral Tumor NRG007
Neurogenic Thoracic Outlet Syndrome NRG006 NTOS
Neurohypophysis Granular Cell Tumor NRH002
Neuroleptic Malignant Syndrome NRL004
Neurologic Disease, Infantile Multisystem, with Osseous Fragility NRL021
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset NRL023 IMNEPD
Neurological Channelopathy of the Central Nervous System Due to a Genetic Acetylcholine Receptor Defect NRL033
Neurological Channelopathy of the Central Nervous System Due to a Genetic Calcium Channel Defect NRL036
Neurological Channelopathy of the Central Nervous System Due to a Genetic Chloride Channel Defect NRL026
Neurological Channelopathy of the Central Nervous System Due to a Genetic Gaba Receptor Defect NRL034
Neurological Channelopathy of the Central Nervous System Due to a Genetic Glycine Receptor Defect NRL032
Neurological Channelopathy of the Central Nervous System Due to a Genetic Potassium Channel Defect NRL037
Neurological Channelopathy of the Central Nervous System Due to a Genetic Sodium Channel Defect NRL035
Neurological Consequences of Cytomegalovirus Infection NRL011
Neurological Manifestations of Pompe Disease NRL012
Neurological Muscular Channelopathy Due to a Genetic Calcium Channel Defect NRL030
Neurological Muscular Channelopathy Due to a Genetic Chloride Channel Defect NRL031
Neurological Muscular Channelopathy Due to a Genetic Potassium Channel Defect NRL029
Neurological Muscular Channelopathy Due to a Genetic Ryanodine Receptor Defect NRL028
Neurological Muscular Channelopathy Due to a Genetic Sodium Channel Defect NRL027
Neuroma NRM004
Neuroma Biliary Tract NRM007
Neurometabolic Disease NRM022
Neurometabolic Disorder Due to Serine Deficiency NRM021
Neuromuscular Disease NRM005
Neuromuscular Disease with Dilated Cardiomyopathy NRM020
Neuromuscular Junction Disease NRM006
Neuromyelitis Optica NRM001 NMO
Neuromyelitis Optica Spectrum Disorder NRM008 NMOSD
Neuromyotonia and Axonal Neuropathy, Autosomal Recessive NRM016 NMAN
Neuronal Ceroid Lipofuscinosis NRN021 NCL
Neuronal Ceroid-Lipofuscinoses NRN005
Neuronal Interstitial Dysplasia NRN007
Neuronal Intestinal Dysplasia NRN029
Neuronal Intestinal Dysplasia, Type B NRN038
Neuronal Intranuclear Inclusion Disease NRN008 NIID
Neuronal Migration Disorders NRN016
Neuronal Tumor NRN046
Neuronitis NRN002
Neuronopathy, Distal Hereditary Motor, Type I NRN027 HMN1
Neuronopathy, Distal Hereditary Motor, Type Iia NRN035 HMN2A
Neuronopathy, Distal Hereditary Motor, Type Iib NRN041 HMN2B
Neuronopathy, Distal Hereditary Motor, Type Iic NRN018 HMN2C
Neuronopathy, Distal Hereditary Motor, Type Iid NRN026 HMN2D
Neuronopathy, Distal Hereditary Motor, Type Ix NRN042 HMN9
Neuronopathy, Distal Hereditary Motor, Type Va NRN037 HMN5A
Neuronopathy, Distal Hereditary Motor, Type Vb NRN024 HMN5B
Neuronopathy, Distal Hereditary Motor, Type Viia NRN025 HMN7A
Neuronopathy, Distal Hereditary Motor, Type Viib NRN040 HMN7B
Neuronopathy, Distal Hereditary Motor, Type Viii NRN036 HMN8
Neuro-Ophthalmological Disease NRP069
Neuropathy NRP001
Neuropathy with Hearing Impairment NRP028
Neuropathy, Ataxia, and Retinitis Pigmentosa NRP045 NARP
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive NRP063 CHN1
Neuropathy, Congenital Hypomyelinating, 2 NRP064 CHN2
Neuropathy, Congenital Hypomyelinating, 3 NRP065 CHN3
Neuropathy, Congenital, with Arthrogryposis Multiplex NRP006
Neuropathy, Hereditary Motor and Sensory, Okinawa Type NRP009 HMSNO
Neuropathy, Hereditary Motor and Sensory, Russe Type NRP010 HMSNR
Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy NRP066 HMSN6A
Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy NRP067 HMSN6B
Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy NRP068 HMSN6C
Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers NRP046
Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive NRP056
Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance NRP050
Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia NRP061
Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux NRP049
Neuropathy, Hereditary Sensory and Autonomic, Type Ia NRP033 HSAN1A
Neuropathy, Hereditary Sensory and Autonomic, Type Ic NRP040 HSAN1C
Neuropathy, Hereditary Sensory and Autonomic, Type Iia NRP053 HSAN2A
Neuropathy, Hereditary Sensory and Autonomic, Type Iib NRP018 HSAN2B
Neuropathy, Hereditary Sensory and Autonomic, Type Iii NRP054 HSAN3
Neuropathy, Hereditary Sensory and Autonomic, Type V NRP037 HSAN5
Neuropathy, Hereditary Sensory and Autonomic, Type Vi NRP038 HSAN6
Neuropathy, Hereditary Sensory and Autonomic, Type Vii NRP031 HSAN7
Neuropathy, Hereditary Sensory and Autonomic, Type Viii NRP044 HSAN8
Neuropathy, Hereditary Sensory, Atypical NRP057
Neuropathy, Hereditary Sensory, Type Id NRP039 HSN1D
Neuropathy, Hereditary Sensory, Type Ie NRP041 HSN1E
Neuropathy, Hereditary Sensory, Type if NRP036 HSN1F
Neuropathy, Hereditary Sensory, Type Iic NRP029 HSN2C
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive NRP055 HSNSP
Neuropathy, Hereditary Sensory, X-Linked NRP058
Neuropathy, Hereditary Thermosensitive NRP047
Neuropathy, Hereditary, with Liability to Pressure Palsies NRP051 HNPP
Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration NRP048 HNARMD
Neuropathy, Painful NRP027
Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine NRP052
Neuroretinitis NRR001
Neurosarcoidosis NRS005
Neuroschistosomiasis NRS001
Neurosyphilis NRS003
Neurotic Disorder NRT001
Neurotic Excoriation NRT002
Neurotrophic Keratoconjunctivitis NRT003
Neurotrophic Keratopathy NRT011
Neurovascular Malformation NRV015
Neurovisceral Storage Disease with Curvilinear Bodies NRV014
Neutral Lipid Storage Disease with Myopathy NTR007 NLSDM
Neutropenia NTR004
Neutropenia, Chronic Familial NTR045
Neutropenia, Lethal Congenital, with Eosinophilia NTR048
Neutropenia, Nonimmune Chronic Idiopathic, of Adults NTR013 NI-CINA
Neutropenia, Severe Congenital, 1, Autosomal Dominant NTR047 SCN1
Neutropenia, Severe Congenital, 2, Autosomal Dominant NTR051 SCN2
Neutropenia, Severe Congenital, 3, Autosomal Recessive NTR049 SCN3
Neutropenia, Severe Congenital, 4, Autosomal Recessive NTR050 SCN4
Neutropenia, Severe Congenital, 5, Autosomal Recessive NTR031 SCN5
Neutropenia, Severe Congenital, 6, Autosomal Recessive NTR034 SCN6
Neutropenia, Severe Congenital, 7, Autosomal Recessive NTR044 SCN7
Neutropenia, Severe Congenital, X-Linked NTR036 SCNX
Neutropenia-Monocytopenia-Deafness Syndrome NTR053
Neutrophil Actin Dysfunction NTR027 NAD
Neutrophil Immunodeficiency Syndrome NTR006 NEUID
Neutrophil Migration NTR046 NM
Neutrophilia, Hereditary NTR018 NEUTROPHILIA
Neutrophilic Dermatosis, Acute Febrile NTR042 SS
Neutrophil-Specific Antigen: Nd1 NTR052
Neutrophil-Specific Granule Deficiency NTR011
Nevada Syndrome NVD002
Nevoid Hypermelanosis, Linear and Whorled NVD003 LWNH
Nevus Anemicus NVS018
Nevus Comedonicus NVS015 NC
Nevus Flammeus of Nape of Neck NVS019
Nevus Mucinosis NVS014
Nevus of Ota NVS007
Nevus, Epidermal NVS017 KNEN
New Daily-Persistent Headache NWD001 NDPH
Newborn Respiratory Distress Syndrome NWB001
Newcastle Disease NWC001
Newfoundland Rod-Cone Dystrophy NWF001 NFRCD
New-Onset Refractory Status Epilepticus NWN001 NORSE
Nfia-Related Disorder NFR001
Nf-Kappa B Essential Modulator Deficiency NFK002
Ngly1-Congenital Disorder of Deglycosylation NGL005
Ngly1-Related Congenital Disorder of Deglycosylation NGL006
Nguyen Syndrome NGY001
Nickel Allergic Asthma NCK003
Nickel Allergic Contact Dermatitis NCK004
Nicolaides-Baraitser Syndrome NCL006 NCBRS
Niemann-Pick Disease NMN002 NPD
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 NPDA
Niemann-Pick Disease, Type B NMN016 NPDB
Niemann-Pick Disease, Type C1 NMN015 NPC1
Niemann-Pick Disease, Type C2 NMN014 NPC2
Nievergelt Syndrome NVR001
Night Blindness NGH001
Night Blindness, Congenital Stationary, Autosomal Dominant 1 NGH021 CSNBAD1
Night Blindness, Congenital Stationary, Autosomal Dominant 2 NGH010 CSNBAD2
Night Blindness, Congenital Stationary, Autosomal Dominant 3 NGH008 CSNBAD3
Night Blindness, Congenital Stationary, Type 1a NGH026 CSNB1A
Night Blindness, Congenital Stationary, Type 1b NGH007 CSNB1B
Night Blindness, Congenital Stationary, Type 1c NGH027 CSNB1C
Night Blindness, Congenital Stationary, Type 1d NGH028 CSNB1D
Night Blindness, Congenital Stationary, Type 1e NGH029 CSNB1E
Night Blindness, Congenital Stationary, Type 1f NGH030 CSNB1F
Night Blindness, Congenital Stationary, Type 1g NGH022 CSNB1G
Night Blindness, Congenital Stationary, Type 1h NGH024 CSNB1H
Night Blindness, Congenital Stationary, Type 2a NGH025 CSNB2A
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome NGH023
Nijmegen Breakage Syndrome NJM001 NBS
Nijmegen Breakage Syndrome-Like Disorder NJM002 NBSLD
Nik Deficiency NKD001
Nipah Virus Disease NPH064
Nipah Virus Encephalitis NPH027
Nipple Carcinoma NPP002
Nipple Duct Carcinoma NPP001
Nipple Neoplasm NPP003
Nipples Inverted NPP007
Nipples, Supernumerary NPP006
Nk-Cell Enteropathy NKC001
Nkx2-1-Related Disorders NKX001
Nkx6-2-Related Disorder NKX002 SPAX8
Noble Bass Sherman Syndrome NBL002
Nocardiosis NCR004
Nodal Marginal Zone B-Cell Lymphoma NDL020 NMZL
Nodal Marginal Zone Lymphoma NDL024
Nodding Syndrome NDD001
Nodular Basal Cell Carcinoma NDL009
Nodular Cutaneous Amyloidosis NDL017 PLCNA
Nodular Degeneration of Cornea NDL004
Nodular Episcleritis NDL008
Nodular Ganglioneuroblastoma NDL011
Nodular Goiter NDL007
Nodular Hidradenoma NDL010
Nodular Lichen Myxedematosus NDL019
Nodular Lymphocyte Predominant Hodgkin Lymphoma NDL021 NLPHL
Nodular Malignant Melanoma NDL001
Nodular Medulloblastoma NDL005
Nodular Neuronal Heterotopia NDL022
Nodular Nonsuppurative Panniculitis NDL003 WCD
Nodular Prostate NDL006
Nodular Regenerative Hyperplasia NDL013
Nodular Tenosynovitis NDL002
Nodular Urticaria Pigmentosa NDL018
Noduli Cutanei, Multiple, with Urinary Tract Abnormalities NDL023
Noma NM001 NOMA
Nominal Aphasia NMN001
Non 24 Hour Sleep Wake Disorder NN2002
Non Progressive Epilepsy and/or Ataxia with Myoclonus As a Major Feature NNP020
Non Specific Chronic Endometritis NNS001
Non Syndromic Limb Overgrowth NNS053
Non-Acquired Combined Pituitary Hormone Deficiencies Without Extra-Pituitary Malformations NNC015
Non-Acquired Combined Pituitary Hormone Deficiency NNC009
Non-Acquired Pituitary Hormone Deficiency NNC017
Non-Acquired Premature Ovarian Failure NNC016
Non-a-E Hepatitis NNH002
Nonaka Myopathy NNK001 NM
Non-Alcoholic Fatty Liver Disease NNL005 NAFL
Non-Alcoholic Steatohepatitis NNL006 NASH
Non-Amyloid Monoclonal Immunoglobulin Deposition Disease NNM003
Nonarteritic Anterior Ischemic Optic Neuropathy NNR004 NAION
Non-Central Nervous System-Localized Embryonal Carcinoma NNC014
Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency NNC012 LOCAH
Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency NNC007
Non-Congenital Cyst of Kidney NNC001
Nondisjunction NND010
Non-Distal Monosomy 10q NND004
Non-Distal Monosomy 12q NND007
Non-Distal Monosomy 20q NND006
Non-Distal Trisomy 10q NND003
Non-Distal Trisomy 13q NND005
Non-Distal Trisomy 9q NND009
Non-Dystrophic Myopathy NND013
Nondystrophic Myotonia NND001 NDM
Non-Dystrophic Myotonic Disorders NND002
Nonencapsulated Sclerosing Carcinoma NNN001
Non-Familial Dilated Cardiomyopathy NNF006
Non-Familial Hypertrophic Cardiomyopathy NNF004
Non-Familial Rare Disease with Dilated Cardiomyopathy NNF010
Non-Familial Restrictive Cardiomyopathy NNF005
Non-Functioning Neuroendocrine Tumor of Pancreas NNF009
Non-Functioning Pancreatic Endocrine Tumor NNF001
Non-Functioning Paraganglioma NNF008
Non-Functioning Pituitary Adenoma NNF007 NFPA
Non-Genetic Cardiac Rhythm Disease NNG003
Non-Gestational Choriocarcinoma NNG001
Non-Gestational Ovarian Choriocarcinoma NNG002
Non-Hereditary Degenerative Ataxia NNH012
Non-Herpetic Acute Limbic Encephalitis NNH006
Non-Histaminic Angioedema NNH013
Non-Hodgkin Lymphoma, During Pregnancy NNH004
Non-Hypoproteinemic Hypertrophic Gastropathy NNH007
Non-Infectious Anterior Uveitis NNN030
Noninfectious Dermatoses of Eyelid NNN006
Non-Infectious Posterior Uveitis NNN032
Non-Inflammatory Vasculopathy NNN031
Non-Invasive Bladder Papillary Urothelial Neoplasm NNN005
Non-Invasive Bladder Urothelial Carcinoma NNN004
Noninvasive Malignant Thymoma NNN002
Non-Involuting Congenital Hemangioma NNN007 NICH
Non-Langerhans-Cell Histiocytosis NNL001
Non-Lissencephalic Cortical Dysplasia NNL003
Nonmucinous Bronchioloalveolar Adenocarcinoma NNM008
Nonossifying Fibromyxoid Tumor NNS004
Non-Papillary Transitional Cell Carcinoma of the Bladder NNP009
Nonparalytic Poliomyelitis NNP002
Non-Paraneoplastic Limbic Encephalitis NNP018
Non-Paraneoplastic Sensory Ganglionopathy NNP019
Nonphotosensitive Trichothiodystrophy NNP004
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy NNP016
Non-Proliferative Fibrocystic Change of the Breast NNP005
Non-Rare Bone Disease NNR028
Non-Rare Cardiac Disease NNR024
Non-Rare Cardiac Malformation NNR032
Non-Rare Circulatory System Disease NNR025
Non-Rare Developmental Anomalies During Embryogenesis NNR010
Non-Rare Disease NNR020
Non-Rare Endocrinologic Disease NNR018
Non-Rare Eye Disease NNR016
Non-Rare Gastroenterologic Disease NNR022
Non-Rare Genetic Disease NNR011
Non-Rare Gynecologic and Obstetric Disease NNR023
Non-Rare Hematologic Disease NNR013
Non-Rare Hepatic Disease NNR035
Non-Rare Immune Disease NNR026
Non-Rare Infertility Disease NNR027
Non-Rare Maxillo-Facial Surgical Disease NNR029
Non-Rare Metabolic Disease NNR036
Non-Rare Neurologic Disease NNR033
Non-Rare Odontologic Disease NNR030
Non-Rare Orthopedic Disease NNR021
Non-Rare Otorhinolaryngologic Disease NNR031
Non-Rare Psychiatric Disease NNR034
Non-Rare Renal Disease NNR019
Non-Rare Skin Disease NNR014
Non-Rare Systemic and Rhumatologic Disease NNR017
Non-Rare Tumor NNR015
Non-Rare Urogenital Disease NNR012
Non-Recovering Obstetric Brachial Plexus Lesion NNR008
Non-Renal Secondary Hyperparathyroidism NNR001
Non-Rhizomelic Chondrodysplasia Punctata NNR005
Non-Secreting Chemodectoma NNS030
Non-Secretory Myeloma NNS003
Nonseminomatous Germ Cell Tumor NNS011 NSGCT
Non-Severe Combined Immunodeficiency NNS057
Non-Small Cell Lung Cancer, Childhood NNS012
Nonspecific Interstitial Pneumonia NNS002 NSIP
Non-Suppurative Otitis Media NNS006
Nonsyndromic 46,xx Testicular Disorders of Sex Development NNS035
Non-Syndromic Central Nervous System Malformation NNS064
Non-Syndromic Cerebral Malformation Due to Abnormal Neuronal Migration NNS047
Non-Syndromic Complex Polydactyly NNS056
Nonsyndromic Deafness NNS007
Non-Syndromic Diaphragmatic or Abdominal Wall Malformation NNS065
Non-Syndromic Diaphragmatic or Thoracic Malformation NNS048
Nonsyndromic Disorders of Testicular Development NNS042
Non-Syndromic Esophageal Malformation NNS069
Non-Syndromic Gastroduodenal Malformation NNS067
Non-Syndromic Genetic Deafness NNS044
Nonsyndromic Hearing Loss and Deafness, Dfna3 NNS008
Nonsyndromic Hearing Loss and Deafness, Dfnb1 NNS009
Nonsyndromic Hearing Loss and Deafness, Mitochondrial NNS010
Nonsyndromic Hereditary Sensorineural Hearing Loss NNS013
Nonsyndromic Holoprosencephaly NNS019
Non-Syndromic Intellectual Disability NNS031
Non-Syndromic Intestinal Malformation NNS068
Non-Syndromic Limb Malformation NNS062
Non-Syndromic Limb Reduction Defect NNS059
Non-Syndromic Male Infertility Due to Sperm Motility Disorder NNS033
Nonsyndromic Paraganglioma NNS018
Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy NNS060
Non-Syndromic Pontocerebellar Hypoplasia NNS061 PCH
Non-Syndromic Postaxial Polydactyly NNS054
Non-Syndromic Preaxial Polydactyly NNS055
Non-Syndromic Renal or Urinary Tract Malformation NNS058
Non-Syndromic Respiratory or Mediastinal Malformation NNS063
Nonsyndromic Retinitis Pigmentosa NNS043
Non-Syndromic Urogenital Tract Malformation NNS046
Non-Syndromic Urogenital Tract Malformation of Female NNS050
Non-Syndromic Urogenital Tract Malformation of Male NNS051
Non-Syndromic Urogenital Tract Malformation of Male and Female NNS052
Non-Syndromic Uterovaginal Malformation NNS049
Non-Syndromic Visceral Malformation NNS066
Non-Syndromic X-Linked Intellectual Disability NNS032
Nontoxic Goiter NNT010
Nontuberculous Mycobacterial Lung Disease NNT049
Non-X-Linked Congenital Disorder of Glycosylation with Intellectual Disability As a Major Feature NNX001
Noonan Syndrome 1 NNN008 NS1
Noonan Syndrome 10 NNN025 NS10
Noonan Syndrome 11 NNN029 NS11
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 7 NNN020 NS7
Noonan Syndrome 8 NNN021 NS8
Noonan Syndrome 9 NNN024 NS9
Noonan Syndrome and Noonan-Related Syndrome NNN033
Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 NNN028 NSLH1
Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 NNN027 NSLH2
Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia NNN022 NSLL
Normokalemic Periodic Paralysis NRM009
Normosmic Congenital Hypogonadotropic Hypogonadism NRM018 NIHH
Norrie Disease NRR002 ND
North American Indian Childhood Cirrhosis NRT006 NAIC
Norwegian Scabies NRW001
Nose and Cavum Anomaly NSN002
Nose Disease NSD001
Nose, Anomalous Shape of NSN001
Nosophobia NSP004
Not Otherwise Specified 3-Mga-Uria Type NTT001
Notalgia Paresthetica NTL003
Novelty Seeking Personality Trait NVL002
Nr0b1-Related Adrenal Hypoplasia Congenita NR0002
Nsdhl-Related Disorders NSD002
Nuchal Bleb, Familial NCH001 FCH
Nuclear Gene-Encoded Leigh Syndrome NCL007
Nuclear Ribonucleic Acid NCL008 NRNA
Nuclear Senile Cataract NCL001
Null Pituitary Adenoma NLL003
Null-Cell Leukemia NLL001
Numeric Sex Chromosome Variations NMR001
Nut Allergy NTL004
Nut Midline Carcinoma NTM002 NMC
Nutmeg Liver NTM001
Nutritional Deficiency Disease NTR005
Nutritional Optic Neuropathy NTR002
Nystagmus 1, Congenital, X-Linked NYS017 NYS1
Nystagmus 2, Congenital, Autosomal Dominant NYS003 NYS2
Nystagmus 3, Congenital, Autosomal Dominant NYS004 NYS3
Nystagmus 4, Congenital, Autosomal Dominant NYS005 NYS4
Nystagmus 5, Congenital, X-Linked NYS012 NYS5
Nystagmus 6, Congenital, X-Linked NYS013 NYS6
Nystagmus 7, Congenital, Autosomal Dominant NYS016 NYS7
Nystagmus, Congenital Motor, Autosomal Recessive NYS006
Nystagmus, Congenital, Autosomal Recessive NYS019
Nystagmus, Hereditary Vertical NYS007
Nystagmus, Myoclonic NYS008
Nystagmus, Voluntary NYS018
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