Disease Name Symbol Acronym
N Syndrome NSY001 NSX
N1 Diffuse Large B-Cell Lymphoma N1D001
Nabais Sa-De Vries Syndrome, Type 1 NBS001 NSDVS1
Nabais Sa-De Vries Syndrome, Type 2 NBS002 NSDVS2
Nablus Mask-Like Facial Syndrome NBL001 NMLFS
N-Acetylaspartate Deficiency NCT013 NACED
N-Acetylglutamate Synthase Deficiency NCT003 NAGSD
Naegeli-Franceschetti-Jadassohn Syndrome NGL001 NFJS
Nail Disease NLD001
Nail Disorder, Nonsyndromic Congenital, 1 NLD009 NDNC1
Nail Disorder, Nonsyndromic Congenital, 3 NLD012 NDNC3
Nail Disorder, Nonsyndromic Congenital, 4 NLD014 NDNC4
Nail Disorder, Nonsyndromic Congenital, 8 NLD015 NDNC8
Nail Disorder, Nonsyndromic Congenital, 9 NLD006 NDNC9
Nail Dysplasia, Isolated Congenital NLD003
Nail-Patella Syndrome NLP001 NPS
Nakajo Syndrome NKJ001
Nance-Horan Syndrome NNC002 NHS
Nanophthalmos NNP021
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 Cavity Adenocarcinoma NSL003
Nasal Cavity Benign Neoplasm NSL028
Nasal Cavity Cancer NSL008
Nasal Cavity Disease NSL022
Nasal Cavity Lymphoma NSL004
Nasal Cavity Olfactory Neuroblastoma NSL005
Nasal Cavity Squamous Cell Carcinoma NSL006
Nasal Type Extranodal Nk/t-Cell Lymphoma NSL029 NKTCL
Nasopalpebral Lipoma-Coloboma Syndrome NSP016 NPLCS
Nasopharyngeal Carcinoma NSP012 NPC
Nasopharyngeal Carcinoma 2 NSP009 NPCA2
Nasopharyngeal Carcinoma 3 NSP015 NPCA3
Nasopharyngeal Disease NSP003
Nasopharyngitis NSP002
Natowicz Syndrome NTW001
Naxos Disease NXS001 NXD
Ndp-Related Retinopathies NDP001
Near-Fatal Asthma NRF028
Necatoriasis NCT001
Necrobiosis Lipoidica NCR002
Necrotic Uveal Melanoma NCR008
Necrotizing Fasciitis NCR007
Necrotizing Gastritis NCR005
Necrotizing Sialometaplasia NCR003
Necrotizing Ulcerative Gingivitis NCR001 ANUG
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
Neonatal Abstinence Syndrome NNT008
Neonatal Adrenoleukodystrophy NNT017 NALD
Neonatal Alloimmune Neutropenia NNT054
Neonatal Anemia NNT011
Neonatal Candidiasis NNT005
Neonatal Diabetes NNT058 NDM
Neonatal Hypoxic and Ischemic Brain Injury NNT033 HIE
Neonatal Inflammatory Skin and Bowel Disease NNT037
Neonatal Jaundice NNT012
Neonatal Leukemia NNT007
Neonatal Lupus Erythematosus NNT042
Neonatal Marfan Syndrome NNT039
Neonatal Myasthenia Gravis NNT006
Neonatal Period Electroclinical Syndrome NNT041
Neonatal Respiratory Failure NNT004
Neonatal Thyrotoxicosis NNT003
Neonatal-Onset Severe Multisystemic Autoinflammatory Disease with Increased Il18 NNT060
Neovascular Glaucoma NVS001
Nephrocalcinosis NPH003
Nephrogenic Adenofibroma NPH006
Nephrogenic Adenoma NPH001
Nephrogenic Adenoma of the Urethra NPH008
Nephrogenic Adenoma of Urinary Bladder NPH002
Nephrogenic Diabetes Insipidus NPH007 NDI
Nephrogenic Syndrome of Inappropriate Antidiuresis NPH013 NSIAD
Nephrolithiasis NPH009
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
Nephroma NPH113
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
Nephronophthisis-Like Nephropathy 2 NPH118 NPHPL2
Nephropathy, Chronic Tubulointerstitial NPH099
Nephropathy, Progressive, with Deafness NPH050 NEDE
Nephrosclerosis NPH010
Nephrotic Syndrome NPH012
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 21 NPH111 NPHS21
Nephrotic Syndrome, Type 22 NPH114 NPHS22
Nephrotic Syndrome, Type 23 NPH115 NPHS23
Nephrotic Syndrome, Type 24 NPH117 NPHS24
Nephrotic Syndrome, Type 26 NPH119 NPHS26
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 Plexus Neoplasm NRV005
Nervous System Disease NRV007
Nescav Syndrome NSC005 NESCAVS
Nestor-Guillermo Progeria Syndrome NST002 NGPS
Netherton Syndrome NTH001 NETH
Neu-Laxova Syndrome 1 NLX004 NLS1
Neu-Laxova Syndrome 2 NLX003 NLS2
Neu-Laxova Syndrome Due to 3-Phosphoglycerate Dehydrogenase Deficiency NLX006
Neu-Laxova Syndrome Due to Phosphoserine Aminotransferase Deficiency NLX005
Neural Crest Tumor NRL008
Neural Tube Defects NRL016 NTD
Neural Tube Defects, Folate-Sensitive NRL018 NTDFS
Neuraminidase Deficiency NRM019 SIALIDOSIS
Neurilemmoma NRL005
Neurilemmoma of the Fifth Cranial Nerve NRL001
Neurilemmomatosis NRL002 NF3
Neuritis NRT004
Neuroacanthocytosis NRC005
Neuroaspergillosis NRS002
Neuroaxonal Dystrophy NRX001
Neuroblastoma NRB001 NB
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
Neurocardiofaciodigital Syndrome NRC024 NCFD
Neurodegeneration Due to Cerebral Folate Transport Deficiency NRD004 NCFTD
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy NRD120 NDAXOA
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 Ataxia, Tremor, Optic Atrophy, and Cognitive Decline NRD097 CONATOC
Neurodegeneration, Childhood-Onset, with Brain Atrophy NRD030 CONDBA
Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy NRD059 CONDCA
Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities NRD117 CONRIBA
Neurodegeneration, Childhood-Onset, with Progressive Microcephaly NRD154 CONPM
Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia NRD068 NDCAMA
Neurodermatitis NRD001
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities NRD061 NEDLBA
Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity NRD099 NEDBASS
Neurodevelopmental Disorder with Absent Language and Variable Seizures NRD084 NEDALVS
Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly NRD076 NEDAHM
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter NRD040 NDAGSCW
Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia NRD086 NEDBASH
Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies NRD133 NEDBGF
Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies NRD089 NEDBAVC
Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis NRD092 NEDBSS
Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities NRD115 NEDCASB
Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies NRD077 NDCAGF
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction NRD062 NEDCPMD
Neurodevelopmental Disorder with Central Hypotonia and Dysmorphic Facies NRD152 NEDCHF
Neurodevelopmental Disorder with Cerebellar Atrophy and Motor Dysfunction NRD126 NEDCAM
Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures NRD052 NEDCAS
Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity NRD078 NEDCHS
Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism NRD119 NEDCAFD
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities NRD072 NEDCFSA
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects NRD175 NEDCDS
Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia NRD123 NEDFACH
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies NRD037 NEDDFL
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies NRD083 NEDDFSA
Neurodevelopmental Disorder with Dysmorphic Facies and Skeletal and Brain Abnormalities NRD173 NEDDFSB
Neurodevelopmental Disorder with Dysmorphic Facies and Thin Corpus Callosum NRD131 NEDDFAC
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures NRD121 NEDDFAS
Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia NRD107 NEDDISH
Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities NRD114 NEDFASB
Neurodevelopmental Disorder with Dysmorphic Features, Spasticity, and Brain Abnormalities NRD124 NEDDSBA
Neurodevelopmental Disorder with Dystonia and Seizures NRD159 NEDDS
Neurodevelopmental Disorder with Epilepsy and Brain Atrophy NRD160 NEDEBA
Neurodevelopmental Disorder with Epilepsy and Hemochromatosis NRD148 NEDEPH
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 Epilepsy, Spasticity, and Brain Atrophy NRD093 NEDESBA
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly NRD174 NEDFLPH
Neurodevelopmental Disorder with Feeding Difficulties, Thin Corpus Callosum, and Foot Deformity NRD149 NEDFCF
Neurodevelopmental Disorder with Hearing Loss and Spasticity NRD142 NEDHLS
Neurodevelopmental Disorder with Hearing Loss, Seizures, and Brain Abnormalities NRD139 NEDHSB
Neurodevelopmental Disorder with Hyperkinetic Movements and Dyskinesia NRD144 NEDHYD
Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements NRD090 NEDHAHM
Neurodevelopmental Disorder with Hypotonia and Brain Abnormalities NRD135 NEDHYBA
Neurodevelopmental Disorder with Hypotonia and Dysmorphic Facies NRD134 NEDHYDF
Neurodevelopmental Disorder with Hypotonia and Gross Motor and Speech Delay NRD143 NEDHMS
Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures NRD091 NEDHELS
Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities NRD080 NEDHIB
Neurodevelopmental Disorder with Hypotonia, Craniofacial Abnormalities, and Seizures NRD138 NEDHCS
Neurodevelopmental Disorder with Hypotonia, Facial Dysmorphism, and Brain Abnormalities NRD128 NEDHFBA
Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features NRD150 NEDHILD
Neurodevelopmental Disorder with Hypotonia, Impaired Speech, and Behavioral Abnormalities NRD155 NEDHISB
Neurodevelopmental Disorder with Hypotonia, Language Delay, and Skeletal Defects with or Without Seizures NRD168 NEDHLSS
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures NRD096 NEDHYMS
Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation NRD094 NEDHRIT
Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness NRD051 NEDHND
Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language NRD023 NDHSAL
Neurodevelopmental Disorder with Hypotonia, Stereotypic Hand Movements, and Impaired Language NRD132 NEDHSIL
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia NRD060 NEDIDHA
Neurodevelopmental Disorder with Impaired Language and Ataxia and with or Without Seizures NRD140 NEDLAS
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements NRD066 NEDISHM
Neurodevelopmental Disorder with Infantile Epileptic Spasms NRD127 NEDIES
Neurodevelopmental Disorder with Intention Tremor, Pyramidal Signs, Dyspraxia, and Ocular Anomalies NRD163 NEDITPO
Neurodevelopmental Disorder with Involuntary Movements NRD029 NEDIM
Neurodevelopmental Disorder with Language Delay and Seizures NRD158 NEDLDS
Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities NRD104 NEDLIB
Neurodevelopmental Disorder with Microcephaly and Gray Sclerae NRD103 NEDMIGS
Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies NRD070 NEDMIBA
Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies NRD081 NEDMABA
Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures NRD035 NEDMAS
Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities NRD046 NEDMCR
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment NRD170 NEDMVIC
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity NRD088 NEDMCMS
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 Absent Language NRD169 NEDMHAL
Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies NRD026 NMIHBA
Neurodevelopmental Disorder with Microcephaly, Hypotonia, Nystagmus, and Seizures NRD157 NEDMHS
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities NRD112 NEDMILG
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities NRD113 NEDMILEG
Neurodevelopmental Disorder with Microcephaly, Movement Abnormalities, and Seizures NRD165 NEDMIMS
Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy NRD111 NEDMISB
Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy NRD038 NDMSCA
Neurodevelopmental Disorder with Microcephaly, Seizures, and Neonatal Cholestasis NRD146 NEDMSC
Neurodevelopmental Disorder with Microcephaly, Short Stature, and Speech Delay NRD167 NEDMISS
Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations NRD025 NEDMHM
Neurodevelopmental Disorder with Motor and Speech Delay and Behavioral Abnormalities NRD130 NEDMOSBA
Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features NRD044 NEDMAGA
Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties NRD129 NEDRIHF
Neurodevelopmental Disorder with Neuromuscular and Skeletal Abnormalities NRD153 NEDNMS
Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or Without Seizures NRD085 NEDBAS
Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart NRD024 NEDBEH
Neurodevelopmental Disorder with or Without Autism or Seizures NRD118 NEDAUS
Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities NRD095 NEDASB
Neurodevelopmental Disorder with or Without Early-Onset Generalized Epilepsy NRD116 NEDEGE
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 Hypotonia, Seizures, and Cerebellar Atrophy NRD151 NEDHSCA
Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities NRD043 NEDSGA
Neurodevelopmental Disorder with or Without Variable Brain Abnormalities NRD067 NEDBA
Neurodevelopmental Disorder with or Without Variable Movement or Behavioral Abnormalities NRD147 NEDMAB
Neurodevelopmental Disorder with Poor Growth and Skeletal Anomalies NRD156 NEDGS
Neurodevelopmental Disorder with Poor Growth, Spastic Tetraplegia, and Hearing Loss NRD172 NEDGTH
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 Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities NRD102 NEDMISBA
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities NRD108 NEDSWMA
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures NRD054 NEDAMSS
Neurodevelopmental Disorder with Seizures and Brain Abnormalities NRD136 NEDSBA
Neurodevelopmental Disorder with Seizures and Brain Atrophy NRD110 NEDSEBA
Neurodevelopmental Disorder with Seizures and Gingival Overgrowth NRD125 NEDSGO
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements NRD071 NEDNEH
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment NRD069 NEDSSWI
Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities NRD105 NEDSHBA
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities NRD166 NEDSMBA
Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language NRD039 NEDMIAL
Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy NRD161 NEDMLHB
Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties NRD171 NEDSFF
Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects NRD057 NEDSDV
Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly NRD101 NEDSPM
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 Spasticity, Cataracts, and Cerebellar Hypoplasia NRD122 NEDSCAC
Neurodevelopmental Disorder with Spasticity, Hypomyelinating Leukodystrophy, and Brain Abnormalities NRD141 NEDSPLB
Neurodevelopmental Disorder with Spasticity, Seizures, and Brain Abnormalities NRD164 NEDSSBA
Neurodevelopmental Disorder with Speech Delay and Variable Ocular Anomalies NRD162 NEDSOA
Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies NRD109 NEDSID
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies NRD079 NEDBAF
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, Nonprogressive, with Spasticity and Transient Opisthotonus NRD145 NEDSTO
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion NRD064
Neurodevelopmental, Jaw, Eye, and Digital Syndrome NRD100 NEDJED
Neurodevelopmental-Craniofacial Syndrome with Variable Renal and Cardiac Abnormalities NRD137 NECRC
Neuroendocrine Carcinoma NRN001
Neuroendocrine Tumor NRN004
Neurofacioskeletal Syndrome with or Without Renal Agenesis NRF027 NFSRA
Neurofibroma NRF007
Neurofibroma of the Esophagus NRF004
Neurofibroma of the Heart NRF006
Neurofibromatosis NRF002
Neurofibromatosis, Familial Spinal NRF016 FSNF
Neurofibromatosis, Type I NRF024 NF1
Neurofibromatosis, Type Ii NRF023 NF2
Neurofibromatosis-Noonan Syndrome NRF008 NFNS
Neurofibrosarcoma NRF003
Neurogenic Arthropathy NRG003
Neurogenic Bladder NRG002
Neurogenic Bowel NRG001
Neurohypophysis Granular Cell Tumor NRH002
Neuroleptic Malignant Syndrome NRL004
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1 NRL038 IMNEPD1
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 2 NRL039 IMNEPD2
Neuroma NRM004
Neuromuscular Disease NRM005
Neuromuscular Junction Disease NRM006
Neuromuscular Oculoauditory Syndrome NRM024 NMOAS
Neuromyelitis Optica NRM001 NMO
Neuromyotonia and Axonal Neuropathy, Autosomal Recessive NRM016 NMAN
Neuronal Ceroid Lipofuscinosis NRN021 NCL
Neuronal Ceroid-Lipofuscinoses NRN005 INCL
Neuronal Intestinal Dysplasia, Type B NRN038
Neuronal Intranuclear Inclusion Disease NRN008 NIID
Neuronal Migration Disorders NRN016
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 Vc NRN050 HMN5C
Neuronopathy, Distal Hereditary Motor, Type Viia NRN025 HMN7A
Neuronopathy, Distal Hereditary Motor, Type Viib NRN040 HMN7B
Neuronopathy, Distal Hereditary Motor, Type Viii NRN036 HMN8
Neuronopathy, Distal Hereditary Motor, Type X NRN053 HMN10
Neuroocular Syndrome NRC023 NOC
Neurooculocardiogenitourinary Syndrome NRC022 NOCGUS
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, 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, with Myopathic Features NRP070 HMNMYO
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 Ix, with Developmental Delay NRP071 HSAN9
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, 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, with Liability to Pressure Palsies NRP051 HNPP
Neuropathy, Painful NRP027
Neuroretinitis NRR001
Neurosarcoidosis NRS005
Neuroschistosomiasis NRS001
Neurosyphilis NRS003
Neurotic Disorder NRT001
Neurotic Excoriation NRT002
Neurotrophic Keratoconjunctivitis NRT003
Neutral Lipid Storage Disease with Myopathy NTR007 NLSDM
Neutropenia NTR004
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, 8, Autosomal Dominant NTR054 SCN8
Neutropenia, Severe Congenital, 9, Autosomal Dominant NTR056 SCN9
Neutropenia, Severe Congenital, X-Linked NTR036 SCNX
Neutrophil Actin Dysfunction NTR027 NAD
Neutrophilia, Hereditary NTR018 NEUTROPHILIA
Neutrophilic Dermatosis, Acute Febrile NTR042 AFND
Nevus Comedonicus NVS015 NC
Nevus of Ota NVS007
Nevus, Epidermal NVS017 KNEN
Newborn Respiratory Distress Syndrome NWB001
Newcastle Disease NWC001
Newfoundland Rod-Cone Dystrophy NWF001 NFRCD
Ngly1-Deficiency NGL007
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
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, Congenital Stationary, Type1i NGH031 CSNB1I
Nijmegen Breakage Syndrome NJM001 NBS
Nijmegen Breakage Syndrome-Like Disorder NJM002 NBSLD
Nik Deficiency NKD001
Nipah Virus Encephalitis NPH027
Nipple Benign Neoplasm NPP008
Nipple Carcinoma NPP002
Nipples, Supernumerary NPP006
Nivelon-Nivelon-Mabille Syndrome NVL003 NNMS
Nizon-Isidor Syndrome NZN001 NIZIDS
Nk Cell Deficiency NKC002
Nk-Cell Enteropathy NKC001
Nkx2-1-Related Disorders NKX001
Nkx6-2-Related Disorder NKX002 SPAX8
Nocardiosis NCR004
Nodal Marginal Zone Lymphoma NDL024
Nodding Syndrome NDD001
Nodular Basal Cell Carcinoma NDL009
Nodular Episcleritis NDL008
Nodular Ganglioneuroblastoma NDL011
Nodular Goiter NDL007
Nodular Hidradenoma NDL010
Nodular Malignant Melanoma NDL001
Nodular Nonsuppurative Panniculitis NDL003 WCD
Nodular Prostate NDL006
Nodular Tenosynovitis NDL002
Nodular Urticaria Pigmentosa NDL018
Noma NM001 NOMA
Nominal Aphasia NMN001
Non Specific Chronic Endometritis NNS001
Non-Acquired Panhypopituitarism NNC019
Nonaka Myopathy NNK001 NM
Non-Alcoholic Fatty Liver Disease NNL005 NAFL
Non-Alcoholic Steatohepatitis NNL006 NASH
Nonarteritic Anterior Ischemic Optic Neuropathy NNR004 NAION
Nonbacterial Thrombotic Endocarditis NNB001
Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency NNC007
Nondisjunction NND010
Nonencapsulated Sclerosing Carcinoma NNN001
Non-Functioning Pancreatic Endocrine Tumor NNF001
Non-Gestational Choriocarcinoma NNG001
Non-Gestational Ovarian Choriocarcinoma NNG002
Non-Invasive Bladder Papillary Urothelial Neoplasm NNN005
Non-Invasive Bladder Urothelial Carcinoma NNN004
Non-Langerhans-Cell Histiocytosis NNL001
Nonmucinous Bronchioloalveolar Adenocarcinoma NNM008
Nonobstructive Coronary Artery Disease NNB002
Nonparalytic Poliomyelitis NNP002
Nonphotosensitive Trichothiodystrophy NNP004
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy NNP016
Non-Proliferative Fibrocystic Change of the Breast NNP005
Non-Secretory Myeloma NNS003
Nonseminomatous Germ Cell Tumor NNS011 NSGCT
Non-Severe Covid-19 NNS126
Non-Specific Early-Onset Epileptic Encephalopathy NNS097
Nonspecific Interstitial Pneumonia NNS002 NSIP
Non-Specific Syndromic Intellectual Disability NNS045
Non-Suppurative Otitis Media NNS006
Non-Syndromic Bicoronal Craniosynostosis NNS134
Nonsyndromic Congenital Nail Disorder NNS071
Non-Syndromic Genetic Deafness NNS044
Nonsyndromic Hearing Loss NNS072
Nonsyndromic Hearing Loss and Deafness, Dfnb1 NNS009
Non-Syndromic Male Infertility Due to Sperm Motility Disorder NNS033
Non-Syndromic Metopic Craniosynostosis NNS133
Nonsyndromic Paraganglioma NNS018
Non-Syndromic Pontocerebellar Hypoplasia NNS061 PCH
Non-Syndromic Posterior Hypospadias NNS113
Nonsyndromic Retinitis Pigmentosa NNS043
Non-Syndromic Sagittal Craniosynostosis NNS135
Non-Syndromic Unicoronal Craniosynostosis NNS146
Non-Syndromic X-Linked Intellectual Disability NNS032
Non-Syndromic X-Linked Intellectual Disability 1 NNS083 MRX1
Non-Syndromic X-Linked Intellectual Disability 101 NNS124
Non-Syndromic X-Linked Intellectual Disability 103 NNS116
Non-Syndromic X-Linked Intellectual Disability 106 NNS114
Non-Syndromic X-Linked Intellectual Disability 107 NNS125
Non-Syndromic X-Linked Intellectual Disability 14 NNS077 MRX14
Non-Syndromic X-Linked Intellectual Disability 2 NNS073 MRX2
Non-Syndromic X-Linked Intellectual Disability 20 NNS075 MRX20
Non-Syndromic X-Linked Intellectual Disability 21 NNS112 MRX21
Non-Syndromic X-Linked Intellectual Disability 30 NNS089 MRX30
Non-Syndromic X-Linked Intellectual Disability 41 NNS093 MRX41
Non-Syndromic X-Linked Intellectual Disability 46 NNS092 MRX46
Non-Syndromic X-Linked Intellectual Disability 58 NNS076 MRX58
Non-Syndromic X-Linked Intellectual Disability 63 NNS088 MRX63
Non-Syndromic X-Linked Intellectual Disability 72 NNS094 MRX72
Non-Syndromic X-Linked Intellectual Disability 73 NNS128 MRX73
Non-Syndromic X-Linked Intellectual Disability 77 NNS084 MRX77
Non-Syndromic X-Linked Intellectual Disability 81 NNS081 MRX81
Non-Syndromic X-Linked Intellectual Disability 82 NNS090 MRX82
Non-Syndromic X-Linked Intellectual Disability 89 NNS080 MRX89
Non-Syndromic X-Linked Intellectual Disability 9 NNS082 MRX9
Non-Syndromic X-Linked Intellectual Disability 90 NNS085 MRX90
Non-Syndromic X-Linked Intellectual Disability 91 NNS086 MRX91
Non-Syndromic X-Linked Intellectual Disability 93 NNS087 MRX93
Non-Syndromic X-Linked Intellectual Disability 96 NNS119 MRX96
Non-Syndromic X-Linked Intellectual Disability 97 NNS123 MRXZ
Non-Syndromic X-Linked Intellectual Disability 98 NNS122 MRX98
Non-Syndromic X-Linked Intellectual Disability 99 NNS118 MRX99
Non-Syndromic X-Linked Intellectual Disability Arx-Related NNS117
Nontoxic Goiter NNT010
Noonan Syndrome 1 NNN008 NS1
Noonan Syndrome 10 NNN025 NS10
Noonan Syndrome 11 NNN029 NS11
Noonan Syndrome 12 NNN034 NS12
Noonan Syndrome 13 NNN036 NS13
Noonan Syndrome 14 NNN038 NS14
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 with Multiple Lentigines NNN026 NSML
Noonan Syndrome-Like Disorder with Loose Anagen Hair NNN037
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
Normal Pressure Hydrocephalus NRM002
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 Disease NSD001
Nosophobia NSP004
Novelty Seeking Personality Trait NVL002
Nrxn1-Related Severe Neurodevelopmental Disorder-Motor Stereotypies-Chronic Constipation-Sleep-Wake Cycle Disturbance NRX005
Nsdhl-Related Disorders NSD002
Nuchal Bleb, Familial NCH001 FCH
Nuclear Senile Cataract NCL001
Nuclear Type Mitochondrial Complex I Deficiency NCL010
Null Pituitary Adenoma NLL003
Null-Cell Leukemia NLL001
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 5, Congenital, X-Linked NYS012 NYS5
Nystagmus 6, Congenital, X-Linked NYS013 NYS6
Nystagmus 7, Congenital, Autosomal Dominant NYS016 NYS7
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