Human Disease Vocabulary Browser

The current vocabulary contains human disease, syndrome, and condition terms from Online Mendelian Inheritance in Man (OMIM database).

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Human Diseases/Syndromes Beginning with "N"

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OMIM ID	Human Disease
OMIM:618828	Nabais Sa-De Vries Syndrome, Type 1; NSDVS1
OMIM:618829	Nabais Sa-De Vries Syndrome, Type 2; NSDVS2
OMIM:608156	Nablus Mask-Like Facial Syndrome; NMLFS
OMIM:614063	N-Acetylaspartate Deficiency; NACED
OMIM:237310	N-Acetylglutamate Synthase Deficiency; NAGSD
OMIM:125860	Nad(p)h Dehydrogenase, Quinone 1; NQO1
OMIM:161000	Naegeli-Franceschetti-Jadassohn Syndrome; NFJS
OMIM:161050	Nail Disorder, Nonsyndromic Congenital, 1; NDNC1
OMIM:149300	Nail Disorder, Nonsyndromic Congenital, 2; NDNC2
OMIM:151600	Nail Disorder, Nonsyndromic Congenital, 3; NDNC3
OMIM:206800	Nail Disorder, Nonsyndromic Congenital, 4; NDNC4
OMIM:164800	Nail Disorder, Nonsyndromic Congenital, 5; NDNC5
OMIM:107000	Nail Disorder, Nonsyndromic Congenital, 6; NDNC6
OMIM:605779	Nail Disorder, Nonsyndromic Congenital, 7; NDNC7
OMIM:607523	Nail Disorder, Nonsyndromic Congenital, 8; NDNC8
OMIM:614149	Nail Disorder, Nonsyndromic Congenital, 9; NDNC9
OMIM:161200	Nail-Patella Syndrome; NPS
OMIM:302350	Nance-Horan Syndrome; NHS
OMIM:600165	Nanophthalmos 1; NNO1
OMIM:609549	Nanophthalmos 2; NNO2
OMIM:611897	Nanophthalmos 3; NNO3
OMIM:615972	Nanophthalmos 4; NNO4
OMIM:161400	Narcolepsy 1; NRCLP1
OMIM:605841	Narcolepsy 2, Susceptibility To; NRCLP2
OMIM:609039	Narcolepsy 3; NRCLP3
OMIM:612417	Narcolepsy 4, Susceptibility To; NRCLP4
OMIM:612851	Narcolepsy 5, Susceptibility To; NRCLP5
OMIM:614223	Narcolepsy 6, Susceptibility To; NRCLP6
OMIM:614250	Narcolepsy 7; NRCLP7
OMIM:161470	Nasal Alar Collapse, Bilateral
OMIM:161480	Nasal Bones, Absence of
OMIM:161500	Nasal Groove, Familial Transverse
OMIM:161530	Nasal Hyperpigmentation, Familial Transverse
OMIM:167730	Nasopalpebral Lipoma-Coloboma Syndrome; NPLCS
OMIM:607107	Nasopharyngeal Carcinoma
OMIM:161550	Nasopharyngeal Carcinoma, Susceptibility to, 2; NPCA2
OMIM:617075	Nasopharyngeal Carcinoma, Susceptibility to, 3; NPCA3
OMIM:255990	Nathalie Syndrome
OMIM:161600	Navicular Bone, Accessory
OMIM:601214	Naxos Disease; NXD
OMIM:161700	Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult
OMIM:616165	Nemaline Myopathy 10; NEM10
OMIM:256030	Nemaline Myopathy 2; NEM2
OMIM:605355	Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile; NEM5A
OMIM:620386	Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset; NEM5B
OMIM:620389	Nemaline Myopathy 5c, Autosomal Dominant; NEM5C
OMIM:609273	Nemaline Myopathy 6; NEM6
OMIM:610687	Nemaline Myopathy 7; NEM7
OMIM:615348	Nemaline Myopathy 8; NEM8
OMIM:615731	Nemaline Myopathy 9; NEM9
OMIM:616069	Neonatal Nephrocutaneous Inflammatory Syndrome; NNCIS
OMIM:300539	Nephrogenic Syndrome of Inappropriate Antidiuresis; NSIAD
OMIM:167030	Nephrolithiasis, Calcium Oxalate, 1; CAON1
OMIM:620374	Nephrolithiasis, Calcium Oxalate, 2, with or without Nephrocalcinosis; CAON2
OMIM:612286	Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1; NPHLOP1
OMIM:612287	Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2; NPHLOP2
OMIM:605990	Nephrolithiasis, Uric Acid, Susceptibility to
OMIM:310468	Nephrolithiasis, X-Linked Recessive, with Renal Failure; XRN
OMIM:613550	Nephronophthisis 11; NPHP11
OMIM:613820	Nephronophthisis 12; NPHP12
OMIM:614377	Nephronophthisis 13; NPHP13
OMIM:614844	Nephronophthisis 14; NPHP14
OMIM:614845	Nephronophthisis 15; NPHP15
OMIM:615382	Nephronophthisis 16; NPHP16
OMIM:615862	Nephronophthisis 18; NPHP18
OMIM:616217	Nephronophthisis 19; NPHP19
OMIM:256100	Nephronophthisis 1; NPHP1
OMIM:617271	Nephronophthisis 20; NPHP20
OMIM:602088	Nephronophthisis 2; NPHP2
OMIM:604387	Nephronophthisis 3; NPHP3
OMIM:606966	Nephronophthisis 4; NPHP4
OMIM:611498	Nephronophthisis 7; NPHP7
OMIM:613824	Nephronophthisis 9; NPHP9
OMIM:613159	Nephronophthisis-Like Nephropathy 1; NPHPL1
OMIM:619468	Nephronophthisis-Like Nephropathy 2; NPHPL2
OMIM:551200	Nephropathy, Chronic Tubulointerstitial
OMIM:256120	Nephropathy, Deafness, and Hyperparathyroidism
OMIM:602114	Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease
OMIM:609469	Nephropathy, Progressive, with Deafness
OMIM:256150	Nephrosialidosis
OMIM:256200	Nephrosis with Deafness and Urinary Tract and Digital Malformations
OMIM:615861	Nephrotic Syndrome, Type 10; NPHS10
OMIM:616730	Nephrotic Syndrome, Type 11; NPHS11
OMIM:616892	Nephrotic Syndrome, Type 12; NPHS12
OMIM:616893	Nephrotic Syndrome, Type 13; NPHS13
OMIM:617609	Nephrotic Syndrome, Type 15; NPHS15
OMIM:617783	Nephrotic Syndrome, Type 16; NPHS16
OMIM:618176	Nephrotic Syndrome, Type 17; NPHS17
OMIM:618177	Nephrotic Syndrome, Type 18; NPHS18
OMIM:618178	Nephrotic Syndrome, Type 19; NPHS19
OMIM:256300	Nephrotic Syndrome, Type 1; NPHS1
OMIM:301028	Nephrotic Syndrome, Type 20; NPHS20
OMIM:618594	Nephrotic Syndrome, Type 21; NPHS21
OMIM:619155	Nephrotic Syndrome, Type 22; NPHS22
OMIM:619201	Nephrotic Syndrome, Type 23; NPHS23
OMIM:619263	Nephrotic Syndrome, Type 24; NPHS24
OMIM:620049	Nephrotic Syndrome, Type 26; NPHS26
OMIM:600995	Nephrotic Syndrome, Type 2; NPHS2
OMIM:610725	Nephrotic Syndrome, Type 3; NPHS3
OMIM:256370	Nephrotic Syndrome, Type 4; NPHS4
OMIM:614199	Nephrotic Syndrome, Type 5, with or without Ocular Abnormalities;
OMIM:614196	Nephrotic Syndrome, Type 6; NPHS6
OMIM:615008	Nephrotic Syndrome, Type 7; NPHS7
OMIM:615244	Nephrotic Syndrome, Type 8; NPHS8
OMIM:615573	Nephrotic Syndrome, Type 9; NPHS9
OMIM:614255	Nescav Syndrome; NESCAVS
OMIM:614008	Nestor-Guillermo Progeria Syndrome; NGPS
OMIM:256500	Netherton Syndrome; NETH
OMIM:249310	Neuhauser Syndrome
OMIM:256520	Neu-Laxova Syndrome 1; NLS1
OMIM:616038	Neu-Laxova Syndrome 2; NLS2
OMIM:601634	Neural Tube Defects, Folate-Sensitive; NTDFS
OMIM:182940	Neural Tube Defects, Susceptibility To; NTD
OMIM:301410	Neural Tube Defects, X-Linked
OMIM:256550	Neuraminidase Deficiency
OMIM:256700	Neuroblastoma, Susceptibility to, 1; NBLST1
OMIM:613013	Neuroblastoma, Susceptibility to, 2; NBLST2
OMIM:613014	Neuroblastoma, Susceptibility to, 3; NBLST3
OMIM:613015	Neuroblastoma, Susceptibility to, 4; NBLST4
OMIM:613016	Neuroblastoma, Susceptibility to, 5; NBLST5
OMIM:613017	Neuroblastoma, Susceptibility to, 6; NBLST6
OMIM:616792	Neuroblastoma, Susceptibility to, 7; NBLST7
OMIM:619869	Neurocardiofaciodigital Syndrome; NCFD
OMIM:620306	Neurodegeneration and Seizures Due to Copper Transport Defect; NSCT
OMIM:618170	Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures; CONDSIAS
OMIM:618868	Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline; CONATOC
OMIM:617672	Neurodegeneration, Childhood-Onset, with Brain Atrophy; CONDBA
OMIM:620636	Neurodegeneration, Childhood-Onset, with Cerebellar Ataxia and Cognitive Decline; CONDCAC
OMIM:618276	Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy; CONDCA
OMIM:620089	Neurodegeneration, Childhood-Onset, with Multisystem Involvement Due to Mitochondrial Dysfunction; CONDMIM
OMIM:619847	Neurodegeneration, Childhood-Onset, with Progressive Microcephaly;
OMIM:613068	Neurodegeneration Due to Cerebral Folate Transport Deficiency; NCFTD
OMIM:618451	Neurodegeneration, Early-Onset, with Choreoathetoid Movements and Microcytic Anemia; NDCAMA
OMIM:620987	Neurodegeneration, Infantile-Onset, with Optic Atrophy and Brain Abnormalities; NDOABA
OMIM:619259	Neurodegeneration with Ataxia and Late-Onset Optic Atrophy; NDAXOA
OMIM:617145	Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset; NADGP
OMIM:234200	Neurodegeneration with Brain Iron Accumulation 1; NBIA1
OMIM:256600	Neurodegeneration with Brain Iron Accumulation 2A; NBIA2A
OMIM:610217	Neurodegeneration with Brain Iron Accumulation 2B; NBIA2B
OMIM:606159	Neurodegeneration with Brain Iron Accumulation 3; NBIA3
OMIM:614298	Neurodegeneration with Brain Iron Accumulation 4; NBIA4
OMIM:300894	Neurodegeneration with Brain Iron Accumulation 5; NBIA5
OMIM:615643	Neurodegeneration with Brain Iron Accumulation 6; NBIA6
OMIM:617916	Neurodegeneration with Brain Iron Accumulation 7; NBIA7
OMIM:617917	Neurodegeneration with Brain Iron Accumulation 8; NBIA8
OMIM:620669	Neurodegeneration with Brain Iron Accumulation 9; NBIA9
OMIM:620327	Neurodegeneration with Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities; NDDRSB
OMIM:619522	Neurodevelopmental-Craniofacial Syndrome with Variable Renal and Cardiac Abnormalities; NECRC
OMIM:618890	Neurodevelopmental Disorder and Structural Brain Anomalies with or without Seizures and Spasticity; NEDBASS
OMIM:617710	Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or without Seizures; NEMMLAS
OMIM:619653	Neurodevelopmental Disorder, Nonprogressive, with Spasticity and Transient Opisthotonus; NEDSTO
OMIM:620784	Neurodevelopmental Disorder Plus Optic Atrophy; NEDOA
OMIM:618707	Neurodevelopmental Disorder with Absent Language and Variable Seizures; NEDALVS
OMIM:620270	Neurodevelopmental Disorder with Absent Speech and Movement and Behavioral Abnormalities; NEDSMB
OMIM:618569	Neurodevelopmental Disorder with Ataxia, Hypotonia, and Microcephaly;
OMIM:617807	Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter; NDAGSCW
OMIM:618718	Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia; NEDBASH
OMIM:615286	Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies; NEDBGF
OMIM:618731	Neurodevelopmental Disorder with Brain Anomalies and with or without Vertebral or Cardiac Anomalies; NEDBAVC
OMIM:618590	Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis; NEDBSS
OMIM:619121	Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities; NEDCASB
OMIM:618571	Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic Facies; NDCAGF
OMIM:618356	Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction; NEDCPMD
OMIM:619797	Neurodevelopmental Disorder with Central Hypotonia and Dysmorphic Facies; NEDCHF
OMIM:619333	Neurodevelopmental Disorder with Cerebellar Atrophy and Motor Dysfunction; NEDCAM
OMIM:618056	Neurodevelopmental Disorder with Cerebellar Atrophy and with or without Seizures; NEDCAS
OMIM:618572	Neurodevelopmental Disorder with Cerebellar Hypoplasia and Spasticity; NEDCHS
OMIM:619244	Neurodevelopmental Disorder with Cerebral Atrophy and Variable Facial Dysmorphism; NEDCAFD
OMIM:620888	Neurodevelopmental Disorder with Characteristic Facial and Ectodermal Features and Tetraparesis 1; NEDFET1
OMIM:620083	Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects; NEDCDS
OMIM:620489	Neurodevelopmental Disorder with Dysmorphic Facies and Behavioral Abnormalities; NEDFBA
OMIM:619306	Neurodevelopmental Disorder with Dysmorphic Facies and Cerebellar Hypoplasia; NEDFACH
OMIM:617755	Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies; NEDDFL
OMIM:618659	Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies; NEDDFSA
OMIM:620210	Neurodevelopmental Disorder with Dysmorphic Facies and Ischiopubic Hypoplasia; NEDFIH
OMIM:620073	Neurodevelopmental Disorder with Dysmorphic Facies and Skeletal and Brain Abnormalities; NEDDFSB
OMIM:619480	Neurodevelopmental Disorder with Dysmorphic Facies and Thin Corpus Callosum; NEDDFAC
OMIM:619264	Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures; NEDDFAS
OMIM:619005	Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia; NEDDISH
OMIM:619103	Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities; NEDFASB
OMIM:615802	Neurodevelopmental Disorder with Dysmorphic Features, Spasticity, and Brain Abnormalities; NEDDSBA
OMIM:619922	Neurodevelopmental Disorder with Dystonia and Seizures; NEDDS
OMIM:620747	Neurodevelopmental Disorder with Early-Onset Parkinsonism and Behavioral Abnormalities; NEDPBA
OMIM:619971	Neurodevelopmental Disorder with Epilepsy and Brain Atrophy; NEDEBA
OMIM:301072	Neurodevelopmental Disorder with Epilepsy and Hemochromatosis; NEDEPH
OMIM:618090	Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum; NEDEHCC
OMIM:617393	Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination; NECFM
OMIM:618741	Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy; NEDESBA
OMIM:620094	Neurodevelopmental Disorder with Eye Movement Abnormalities and Ataxia; NEDEMA
OMIM:620075	Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly; NEDFLPH
OMIM:615599	Neurodevelopmental Disorder with Feeding Difficulties, Thin Corpus Callosum, and Foot Deformity; NEDFCF
OMIM:620113	Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities; NEDGFC
OMIM:619616	Neurodevelopmental Disorder with Hearing Loss and Spasticity; NEDHLS
OMIM:616577	Neurodevelopmental Disorder with Hearing Loss, Seizures, and Brain Abnormalities; NEDHSB
OMIM:619651	Neurodevelopmental Disorder with Hyperkinetic Movements and Dyskinesia; NEDHYD
OMIM:620732	Neurodevelopmental Disorder with Hyperkinetic Movements, Seizures, and Structural Brain Abnormalities; NEDMSB
OMIM:618760	Neurodevelopmental Disorder with Hypotonia and Autistic Features with or without Hyperkinetic Movements; NEDHAHM
OMIM:619512	Neurodevelopmental Disorder with Hypotonia and Brain Abnormalities;
OMIM:618879	Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures; NEDHCAS
OMIM:620746	Neurodevelopmental Disorder with Hypotonia and Characteristic Brain Abnormalities; NEDHBA
OMIM:619503	Neurodevelopmental Disorder with Hypotonia and Dysmorphic Facies;
OMIM:619639	Neurodevelopmental Disorder with Hypotonia and Gross Motor and Speech Delay; NEDHMS
OMIM:617171	Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or without Seizures; NEDHELS
OMIM:620790	Neurodevelopmental Disorder with Hypotonia and Seizures; NEDHS
OMIM:620455	Neurodevelopmental Disorder with Hypotonia and Speech Delay, with or without Seizures; NEDHSS
OMIM:618603	Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities; NEDHIB
OMIM:614501	Neurodevelopmental Disorder with Hypotonia, Craniofacial Abnormalities, and Seizures; NEDHCS
OMIM:620224	Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skeletal Anomalies, with or without Seizures; NEDFSS
OMIM:620191	Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities; NEDHFS
OMIM:619383	Neurodevelopmental Disorder with Hypotonia, Facial Dysmorphism, and Brain Abnormalities; NEDHFBA
OMIM:620852	Neurodevelopmental Disorder with Hypotonia, Feeding Difficulties, Facial Dysmorphism, and Brain Abnormalities; NEDHFDB
OMIM:616579	Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features; NEDHILD
OMIM:619854	Neurodevelopmental Disorder with Hypotonia, Impaired Speech, and Behavioral Abnormalities; NEDHISB
OMIM:620029	Neurodevelopmental Disorder with Hypotonia, Language Delay, and Skeletal Defects with or without Seizures; NEDHLSS
OMIM:618862	Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures; NEDHYMS
OMIM:618797	Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation; NEDHRIT
OMIM:617519	Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness;
OMIM:617268	Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language; NDHSAL
OMIM:613443	Neurodevelopmental Disorder with Hypotonia, Stereotypic Hand Movements, and Impaired Language; NEDHSIL
OMIM:618292	Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia; NEDIDHA
OMIM:619580	Neurodevelopmental Disorder with Impaired Language and Ataxia and with or without Seizures; NEDLAS
OMIM:620494	Neurodevelopmental Disorder with Impaired Language, Behavioral Abnormalities, and Dysmorphic Facies; NEDLBF
OMIM:618425	Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements; NEDISHM
OMIM:619373	Neurodevelopmental Disorder with Infantile Epileptic Spasms; NEDIES
OMIM:619995	Neurodevelopmental Disorder with Intention Tremor, Pyramidal Signs, Dyspraxia, and Ocular Anomalies; NEDITPO
OMIM:620371	Neurodevelopmental Disorder with Intracranial Hemorrhage, Seizures, and Spasticity; NEDIHSS
OMIM:617493	Neurodevelopmental Disorder with Involuntary Movements; NEDIM
OMIM:620292	Neurodevelopmental Disorder with Language Delay and Behavioral Abnormalities, with or without Seizures; NEDLBAS
OMIM:619908	Neurodevelopmental Disorder with Language Delay and Seizures; NEDLDS
OMIM:620502	Neurodevelopmental Disorder with Language Delay and Variable Cognitive Abnormalities; NEDLC
OMIM:618917	Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities; NEDLIB
OMIM:620782	Neurodevelopmental Disorder with Language Impairment, Autism, and Attention Deficit-Hyperactivity Disorder; NEDLAAD
OMIM:617051	Neurodevelopmental Disorder with Microcephaly and Gray Sclerae;
OMIM:620445	Neurodevelopmental Disorder with Microcephaly and Movement Abnormalities; NEDMIM
OMIM:620317	Neurodevelopmental Disorder with Microcephaly and Speech Delay, with or without Brain Abnormalities; NEDMSBA
OMIM:618492	Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies; NEDMIBA
OMIM:618622	Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies; NEDMABA
OMIM:617709	Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures;
OMIM:617913	Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities; NEDMCR
OMIM:620066	Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment; NEDMVIC
OMIM:618730	Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity; NEDMCMS
OMIM:617862	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy; NEDMEBA
OMIM:618367	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination; NEDMEHM
OMIM:620038	Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Absent Language; NEDMHAL
OMIM:617481	Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies; NMIHBA
OMIM:619876	Neurodevelopmental Disorder with Microcephaly, Hypotonia, Nystagmus, and Seizures; NEDMHS
OMIM:619091	Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities; NEDMILG
OMIM:619092	Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities; NEDMILEG
OMIM:620023	Neurodevelopmental Disorder with Microcephaly, Movement Abnormalities, and Seizures; NEDMIMS
OMIM:619076	Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy; NEDMISB
OMIM:617802	Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy; NDMSCA
OMIM:619685	Neurodevelopmental Disorder with Microcephaly, Seizures, and Neonatal Cholestasis; NEDMSC
OMIM:620027	Neurodevelopmental Disorder with Microcephaly, Short Stature, and Speech Delay; NEDMISS
OMIM:617523	Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations; NEDMHM
OMIM:620719	Neurodevelopmental Disorder with Motor Abnormalities, Seizures, and Facial Dysmorphism; NEDMSF
OMIM:620428	Neurodevelopmental Disorder with Motor and Language Delay, Ocular Defects, and Brain Abnormalities; NEDMLOB
OMIM:619470	Neurodevelopmental Disorder with Motor and Speech Delay and Behavioral Abnormalities; NEDMOSBA
OMIM:620515	Neurodevelopmental Disorder with Motor Regression, Progressive Spastic Paraplegia, and Oromotor Dysfunction; NEDRSO
OMIM:617865	Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features; NEDMAGA
OMIM:616158	Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties; NEDRIHF
OMIM:619833	Neurodevelopmental Disorder with Neuromuscular and Skeletal Abnormalities; NEDNMS
OMIM:618709	Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or without Seizures; NEDBAS
OMIM:616975	Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart; NEDBEH
OMIM:619239	Neurodevelopmental Disorder with or without Autism or Seizures;
OMIM:618859	Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities; NEDASB
OMIM:619157	Neurodevelopmental Disorder with or without Early-Onset Generalized Epilepsy; NEDEGE
OMIM:614254	Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Dominant; NDHMSD
OMIM:617820	Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive; NDHMSR
OMIM:616917	Neurodevelopmental Disorder with or without Hypotonia, Seizures, and Cerebellar Atrophy; NEDHSCA
OMIM:617864	Neurodevelopmental Disorder with or without Seizures and Gait Abnormalities; NEDSGA
OMIM:618443	Neurodevelopmental Disorder with or without Variable Brain Abnormalities; NEDBA
OMIM:619725	Neurodevelopmental Disorder with or without Variable Movement or Behavioral Abnormalities; NEDMAB
OMIM:620242	Neurodevelopmental Disorder with Poor Growth and Behavioral Abnormalities; NEDGBA
OMIM:619880	Neurodevelopmental Disorder with Poor Growth and Skeletal Anomalies;
OMIM:620194	Neurodevelopmental Disorder with Poor Growth, Large Ears, and Dysmorphic Facies; NEDGEF
OMIM:617903	Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills; NDPLHS
OMIM:617527	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies; NDMSBA
OMIM:616486	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities; NEDMISBA
OMIM:620785	Neurodevelopmental Disorder with Progressive Movement Abnormalities;
OMIM:618383	Neurodevelopmental Disorder with Progressive Movement Abnormalities, Cognitive Decline, and Brain Abnormalities; NEDMCB
OMIM:619026	Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities; NEDSWMA
OMIM:618088	Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures; NEDAMSS
OMIM:619517	Neurodevelopmental Disorder with Seizures and Brain Abnormalities;
OMIM:619072	Neurodevelopmental Disorder with Seizures and Brain Atrophy; NEDSEBA
OMIM:619323	Neurodevelopmental Disorder with Seizures and Gingival Overgrowth;
OMIM:618497	Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements; NEDNEH
OMIM:618480	Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment; NEDSSWI
OMIM:618922	Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities; NEDSHBA
OMIM:620024	Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities; NEDSMBA
OMIM:620250	Neurodevelopmental Disorder with Seizures, Spasticity, and Complete or Partial Agenesis of the Corpus Callosum; NEDSSCC
OMIM:619972	Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy; NEDMLHB
OMIM:620070	Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding Difficulties; NEDSFF
OMIM:615075	Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects;
OMIM:618076	Neurodevelopmental Disorder with Spasticity and Poor Growth; NEDSG
OMIM:619286	Neurodevelopmental Disorder with Spasticity, Cataracts, and Cerebellar Hypoplasia; NEDSCAC
OMIM:616531	Neurodevelopmental Disorder with Spasticity, Hypomyelinating Leukodystrophy, and Brain Abnormalities; NEDSPLB
OMIM:620001	Neurodevelopmental Disorder with Spasticity, Seizures, and Brain Abnormalities; NEDSSBA
OMIM:616281	Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly;
OMIM:617977	Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures; NEDSBAS
OMIM:619989	Neurodevelopmental Disorder with Speech Delay and Variable Ocular Anomalies; NEDSOA
OMIM:619056	Neurodevelopmental Disorder with Speech Impairment and Dysmorphic Facies; NEDSID
OMIM:620114	Neurodevelopmental Disorder with Speech Impairment and with or without Seizures; NEDSIS
OMIM:618577	Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies; NEDBAF
OMIM:617804	Neurodevelopmental Disorder with Variable Motor and Language Impairment; NEDMIAL
OMIM:618547	Neurodevelopmental Disorder with Visual Defects and Brain Anomalies;
OMIM:618914	Neurodevelopmental, Jaw, Eye, and Digital Syndrome; NEDJED
OMIM:603641	Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
OMIM:256690	Neurofaciodigitorenal Syndrome
OMIM:619194	Neurofacioskeletal Syndrome with or without Renal Agenesis; NFSRA
OMIM:162210	Neurofibromatosis, Familial Spinal
OMIM:601321	Neurofibromatosis-Noonan Syndrome; NFNS
OMIM:162240	Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
OMIM:162260	Neurofibromatosis, Type III, Mixed Central and Peripheral; NF3A
OMIM:162200	Neurofibromatosis, Type I; NF1
OMIM:162270	Neurofibromatosis, Type IV, of Riccardi; NF4
OMIM:256720	Neurologic Disease, Infantile Multisystem, with Osseous Fragility
OMIM:616263	Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1; IMNEPD1
OMIM:619418	Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 2; IMNEPD2
OMIM:620775	Neuromuscular Disorder, Congenital, with Dysmorphic Facies; NMDF
OMIM:618733	Neuromuscular Oculoauditory Syndrome; NMOAS
OMIM:137200	Neuromyotonia and Axonal Neuropathy, Autosomal Recessive; NMAN
OMIM:601223	Neuronal Intestinal Dysplasia, Type B
OMIM:603472	Neuronal Intranuclear Inclusion Disease; NIID
OMIM:620080	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10; HMND10
OMIM:620528	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11; HMND11
OMIM:614751	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12; HMND12
OMIM:619112	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13; HMND13
OMIM:607641	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14; HMND14
OMIM:182960	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1; HMND1
OMIM:158590	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2; HMND2
OMIM:608634	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3; HMND3
OMIM:613376	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 4; HMND4
OMIM:600794	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5; HMND5
OMIM:615575	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6; HMND6
OMIM:158580	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7; HMND7
OMIM:600175	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8; HMND8
OMIM:617721	Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 9; HMND9
OMIM:620542	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10; HMNR10
OMIM:620854	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 11, with Spasticity; HMNR11
OMIM:604320	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1; HMNR1
OMIM:605726	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2; HMNR2
OMIM:607088	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3; HMNR3
OMIM:611067	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4; HMNR4
OMIM:614881	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5; HMNR5
OMIM:620011	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6; HMNR6
OMIM:619216	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7; HMNR7
OMIM:618912	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8; HMNR8
OMIM:620402	Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9; HMNR9
OMIM:300489	Neuronopathy, Distal Hereditary Motor, X-Linked; HMNX
OMIM:619539	Neuroocular Syndrome 1; NOC1
OMIM:168885	Neuroocular Syndrome 2, Paroxysmal Type; NOC2
OMIM:618652	Neurooculocardiogenitourinary Syndrome; NOCGUS
OMIM:620305	Neurooculorenal Syndrome; NORS
OMIM:551500	Neuropathy, Ataxia, and Retinitis Pigmentosa
OMIM:605253	Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive; CHN1
OMIM:618184	Neuropathy, Congenital Hypomyelinating, 2; CHN2
OMIM:618186	Neuropathy, Congenital Hypomyelinating, 3; CHN3
OMIM:162370	Neuropathy, Congenital, with Arthrogryposis Multiplex
OMIM:604484	Neuropathy, Hereditary Motor and Sensory, Okinawa Type; HMSNO
OMIM:605285	Neuropathy, Hereditary Motor and Sensory, Russe Type; HMSNR
OMIM:601152	Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy; HMSN6A
OMIM:616505	Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy; HMSN6B
OMIM:618511	Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy; HMSN6C
OMIM:214370	Neuropathy, Hereditary Motor and Sensory, with Deafness, Impaired Intellectual Development, and Absent Sensory Large Myelinated Fibers
OMIM:256855	Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive
OMIM:162380	Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance
OMIM:608720	Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia
OMIM:162400	Neuropathy, Hereditary Sensory and Autonomic, Type IA; HSAN1A
OMIM:613640	Neuropathy, Hereditary Sensory and Autonomic, Type Ic; HSAN1C
OMIM:201300	Neuropathy, Hereditary Sensory and Autonomic, Type IIA; HSAN2A
OMIM:613115	Neuropathy, Hereditary Sensory and Autonomic, Type IIB; HSAN2B
OMIM:223900	Neuropathy, Hereditary Sensory and Autonomic, Type III; HSAN3
OMIM:608088	Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux
OMIM:615031	Neuropathy, Hereditary Sensory and Autonomic, Type IX, with Developmental Delay; HSAN9
OMIM:608654	Neuropathy, Hereditary Sensory and Autonomic, Type V; HSAN5
OMIM:614653	Neuropathy, Hereditary Sensory and Autonomic, Type VI; HSAN6
OMIM:615548	Neuropathy, Hereditary Sensory and Autonomic, Type VII; HSAN7
OMIM:616488	Neuropathy, Hereditary Sensory and Autonomic, Type Viii; HSAN8
OMIM:256860	Neuropathy, Hereditary Sensory, Atypical
OMIM:613708	Neuropathy, Hereditary Sensory, Type ID; HSN1D
OMIM:614116	Neuropathy, Hereditary Sensory, Type IE; HSN1E
OMIM:615632	Neuropathy, Hereditary Sensory, Type IF; HSN1F
OMIM:614213	Neuropathy, Hereditary Sensory, Type IIC; HSN2C
OMIM:256840	Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive; HSNSP
OMIM:310470	Neuropathy, Hereditary Sensory, X-Linked
OMIM:602107	Neuropathy, Hereditary Thermosensitive
OMIM:162500	Neuropathy, Hereditary, with Liability to Pressure Palsies; HNPP
OMIM:256870	Neuropathy, Painful
OMIM:162600	Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine
OMIM:257000	Neurovisceral Storage Disease with Curvilinear Bodies
OMIM:610717	Neutral Lipid Storage Disease with Myopathy; NLSDM
OMIM:162700	Neutropenia, Chronic Familial
OMIM:257100	Neutropenia, Lethal Congenital, with Eosinophilia
OMIM:607847	Neutropenia, Nonimmune Chronic Idiopathic, of Adults
OMIM:620534	Neutropenia, Severe Congenital, 10, Autosomal Recessive; SCN10
OMIM:620674	Neutropenia, Severe Congenital, 11, Autosomal Dominant; SCN11
OMIM:202700	Neutropenia, Severe Congenital, 1, Autosomal Dominant; SCN1
OMIM:613107	Neutropenia, Severe Congenital, 2, Autosomal Dominant; SCN2
OMIM:610738	Neutropenia, Severe Congenital, 3, Autosomal Recessive; SCN3
OMIM:612541	Neutropenia, Severe Congenital, 4, Autosomal Recessive; SCN4
OMIM:615285	Neutropenia, Severe Congenital, 5, Autosomal Recessive; SCN5
OMIM:616022	Neutropenia, Severe Congenital, 6, Autosomal Recessive; SCN6
OMIM:617014	Neutropenia, Severe Congenital, 7, Autosomal Recessive; SCN7
OMIM:618752	Neutropenia, Severe Congenital, 8, Autosomal Dominant; SCN8
OMIM:619813	Neutropenia, Severe Congenital, 9, Autosomal Dominant; SCN9
OMIM:300299	Neutropenia, Severe Congenital, X-Linked; SCNX
OMIM:257150	Neutrophil Actin Dysfunction; NAD
OMIM:162830	Neutrophilia, Hereditary
OMIM:608068	Neutrophilic Dermatosis, Acute Febrile; AFND
OMIM:162880	Neutrophil-Specific Antigen: Nd1
OMIM:614323	Nevoid Hypermelanosis, Linear and Whorled; LWNH
OMIM:163050	Nevus Anemicus
OMIM:617025	Nevus Comedonicus; NC
OMIM:162900	Nevus, Epidermal
OMIM:163100	Nevus Flammeus of Nape of Neck
OMIM:607476	Newfoundland Rod-Cone Dystrophy; NFRCD
OMIM:609643	Nguyen Syndrome
OMIM:601358	Nicolaides-Baraitser Syndrome; NCBRS
OMIM:257200	Niemann-Pick Disease, Type A
OMIM:607616	Niemann-Pick Disease, Type B
OMIM:257220	Niemann-Pick Disease, Type C1; NPC1
OMIM:607625	Niemann-Pick Disease, Type C2; NPC2
OMIM:163400	Nievergelt Syndrome
OMIM:610445	Night Blindness, Congenital Stationary, Autosomal Dominant 1; CSNBAD1
OMIM:163500	Night Blindness, Congenital Stationary, Autosomal Dominant 2; CSNBAD2
OMIM:610444	Night Blindness, Congenital Stationary, Autosomal Dominant 3; CSNBAD3
OMIM:310500	Night Blindness, Congenital Stationary, Type 1A; CSNB1A
OMIM:257270	Night Blindness, Congenital Stationary, Type 1B; CSNB1B
OMIM:613216	Night Blindness, Congenital Stationary, Type 1C; CSNB1C
OMIM:613830	Night Blindness, Congenital Stationary, Type 1D; CSNB1D
OMIM:614565	Night Blindness, Congenital Stationary, Type 1E; CSNB1E
OMIM:615058	Night Blindness, Congenital Stationary, Type 1F; CSNB1F
OMIM:616389	Night Blindness, Congenital Stationary, Type 1G; CSNB1G
OMIM:617024	Night Blindness, Congenital Stationary, Type 1H; CSNB1H
OMIM:618555	Night Blindness, Congenital Stationary, Type1i; CSNB1I
OMIM:300071	Night Blindness, Congenital Stationary, Type 2A; CSNB2A
OMIM:613078	Nijmegen Breakage Syndrome-Like Disorder; NBSLD
OMIM:251260	Nijmegen Breakage Syndrome; NBS
OMIM:163600	Nipples Inverted
OMIM:163700	Nipples, Supernumerary
OMIM:600720	Nitric Oxide Synthase 2 Pseudogene 1; NOS2P1
OMIM:163729	Nitric Oxide Synthase 3; NOS3
OMIM:600092	Nivelon-Nivelon-Mabille Syndrome; NNMS
OMIM:618872	Nizon-Isidor Syndrome; NIZIDS
OMIM:163850	Noduli Cutanei, Multiple, with Urinary Tract Abnormalities
OMIM:605820	Nonaka Myopathy; NM
OMIM:258660	Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To;
OMIM:158250	Nondisjunction
OMIM:616564	Noonan Syndrome 10; NS10
OMIM:618499	Noonan Syndrome 11; NS11
OMIM:618624	Noonan Syndrome 12; NS12
OMIM:619087	Noonan Syndrome 13; NS13
OMIM:619745	Noonan Syndrome 14; NS14
OMIM:163950	Noonan Syndrome 1; NS1
OMIM:605275	Noonan Syndrome 2; NS2
OMIM:609942	Noonan Syndrome 3; NS3
OMIM:610733	Noonan Syndrome 4; NS4
OMIM:611553	Noonan Syndrome 5; NS5
OMIM:613224	Noonan Syndrome 6; NS6
OMIM:613706	Noonan Syndrome 7; NS7
OMIM:615355	Noonan Syndrome 8; NS8
OMIM:616559	Noonan Syndrome 9; NS9
OMIM:607721	Noonan Syndrome-Like Disorder with Loose Anagen Hair 1; NSLH1
OMIM:617506	Noonan Syndrome-Like Disorder with Loose Anagen Hair 2; NSLH2
OMIM:613563	Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia; NSLL
OMIM:170600	Normokalemic Periodic Paralysis
OMIM:310600	Norrie Disease; ND
OMIM:604901	North American Indian Childhood Cirrhosis; NAIC
OMIM:164000	Nose, Anomalous Shape of
OMIM:618026	Notch2 N-Terminal-Like R; NOTCH2NLR
OMIM:310465	N Syndrome; NSX
OMIM:257350	Nuchal Bleb, Familial
OMIM:617386	Nuclear Receptor Subfamily 1, Group H, Member 5, Pseudogene; NR1H5P
OMIM:310650	Nuclear Ribonucleic Acid; NRNA
OMIM:310700	Nystagmus 1, Congenital, X-Linked; NYS1
OMIM:164100	Nystagmus 2, Congenital, Autosomal Dominant; NYS2
OMIM:608345	Nystagmus 3, Congenital, Autosomal Dominant; NYS3
OMIM:300589	Nystagmus 5, Congenital, X-Linked; NYS5
OMIM:300814	Nystagmus 6, Congenital, X-Linked; NYS6
OMIM:614826	Nystagmus 7, Congenital, Autosomal Dominant; NYS7
OMIM:257400	Nystagmus 8, Congenital, Autosomal Recessive; NYS8
OMIM:164150	Nystagmus, Hereditary Vertical
OMIM:310800	Nystagmus, Myoclonic

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