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N1 Diffuse Large B-Cell LymphomaA diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecti N-Acetylglutamate Synthase DeficiencyA urea cycle disorder characterized by accumulation of ammonia in the blood that is caused by homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31.Naegeli-Franceschetti-Jadassohn SyndromeA ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that is caused by heterozyg Nagashima-Type Palmoplantar KeratosisA nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the Nager Acrofacial DysostosisAn acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.Nail DiseaseAn integumentary system disease that is in nail.Nail FungusA fungal infection that thickens and discolors nails.Nail-Patella SyndromeA syndrome characterized by nail dysplasia and absent or hypoplastic patellae that is caused by heterozygous mutation in the LMX1B gene on chromosome 9q33.3.Nance-Horan SyndromeA syndrome that is caused by mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.NanophthalmosA microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.Narcissistic Personality DisorderA personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity.NarcolepsyA sleep disorder causing overwhelming daytime sleepiness. Tracking your symptoms and connecting with others who understand can help you manage day to day.NARP SyndromeA mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that is caused by heteroplasmic mutat Nasal Cavity AdenocarcinomaA nasal cavity carcinoma that arises from epithelial cells of glandular origin.Nasal Cavity Benign NeoplasmA respiratory system benign neoplasm that arises from the nasal cavity.Nasal Cavity CancerA respiratory system cancer that is in the nasal cavity.Nasal Cavity CarcinomaA nasal cavity cancer that is caused by epithelial cells.Nasal Cavity Carcinoma in SituAn in situ carcinoma that is in the nasal cavity.Nasal Cavity Squamous Cell CarcinomaA nasal cavity carcinoma that is caused by squamous cells.Nasal PolypsNoncancerous growths in the nasal passages.Nasal Type Extranodal NK/T-Cell LymphomaA mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells.Nasopharyngeal CancerCancer of the upper throat behind the nose.NasopharyngitisA nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx.Nasopharynx CarcinomaA pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.Nasu-Hakola DiseaseA syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that is caused by homozygous mutation in the TYRO prote Naxos DiseaseA nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that is caused by homozygous mutation in the plakoglobin Near-Fatal AsthmaAn acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.NecatoriasisA parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cu Necrotic Uveal MelanomaAn uveal melanoma characterized by the presence of tumor cell necrosis.Nemaline MyopathyA congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike Nemaline Myopathy 10A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that is caused by homozygous or compound heterozygous mutation in the LMO Nemaline Myopathy 11A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that is caused by homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21.Nemaline Myopathy 2A nemaline myopathy that is caused by homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.Nemaline Myopathy 3A nemaline myopathy that is caused by homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.Nemaline Myopathy 5AA nemaline myopathy that is caused by autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset.Nemaline Myopathy 5BA nemaline myopathy that is caused by autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset.Nemaline Myopathy 5CA nemaline myopathy that is caused by autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13.Nemaline Myopathy 6A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that is caused by heteroz Nemaline Myopathy 7A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that is caused by homozygous mutation in the CFL2 gene on chromosome 14q13.Nemaline Myopathy 8A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that is caused by homozygous or compound heteroz Nemaline Myopathy 9A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that is caused by homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31.Neomycin Sulfate Allergic Contact DermatitisAn allergic contact dermatitis that triggered by neomycin sulfate.Neonatal Abstinence SyndromeA withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance Neonatal AnemiaAn anemia that is characterized by a lower red blood cell count than normal in neonates.Neonatal CandidiasisA candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditio Neonatal Diabetes MellitusA diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life.Neonatal Diabetes Mellitus with Congenital HypothyroidismA neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that is caused by homozygous or compound heter Neonatal Inflammatory Skin and Bowel Disease 1An autoinflammatory disease that is caused by homozygous mutation in the ADAM17 gene on chromosome 2p25.Neonatal JaundiceA pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.Neonatal Lethal Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency SyndromeA syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and th Neonatal LeukemiaA childhood leukemia that occurs during the neonatal period.Neonatal Nephrocutaneous Inflammatory SyndromeAn autoinflammatory disease characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction that is caused by mutation in homozygous or compou Neonatal-Onset Type II CitrullinemiaA citrullinemia characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that is caused by homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.Neonatal Period Electroclinical SyndromeAn electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.Neonatal Respiratory FailureA respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates.Neonatal Severe Encephalopathy with Lactic Acidosis and Brain AbnormalitiesA mitochondrial metabolism disease characterized by onset at birth of progressive encephalopathy with little or no psychomotor development and brain abnormalities, including cerebral atrophy, cysts, and white matter abno Neovascular GlaucomaA glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes in Neovascular Inflammatory VitreoretinopathyA retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachm NephritisA kidney disease that is characterized by an inflammation of the kidneys.NephroblastomaA kidney cancer that affects the kidneys and typically occuring in children.Nephrogenic Diabetes InsipidusA diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).Nephrogenic Diabetes Insipidus Type 2A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that is caused by heterozygous, homozygous, or compound hetero Nephrogenic Syndrome of Inappropriate AntidiuresisA renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma argi NephrolithiasisA kidney disease characterized by the formation of stoney concentrations in the kidneys.NephromaA kidney benign neoplasm that is in the kidney cortex.NephronophthisisA kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting fr Nephronophthisis 1A nephronophthisis that is caused by homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.Nephronophthisis 11A nephronophthisis that is caused by homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.Nephronophthisis 12A nephronophthisis that is caused by homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24.Nephronophthisis 13A nephronophthisis that is caused by homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.Nephronophthisis 14A nephronophthisis that is caused by homozygous mutation in the ZNF423 gene on chromosome 16q12.1.Nephronophthisis 15A nephronophthisis that is caused by homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q.Nephronophthisis 16A nephronophthisis that is caused by homozygous mutation in the ANKS6 gene on chromosome 9q22.Nephronophthisis 18A nephronophthisis that is caused by homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22.Nephronophthisis 19A nephronophthisis that is caused by homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22.Nephronophthisis 2A nephronophthisis that is caused by homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31.Nephronophthisis 20A nephronophthisis that is caused by homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15.Nephronophthisis 3A nephronophthisis that is caused by homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22.Nephronophthisis 4A nephronophthisis that is caused by mutation in the NPHP4 gene on chromosome 1p36.31.Nephronophthisis 7A nephronophthisis that is caused by homozygous mutation in the GLIS2 gene on chromosome 16p13.Nephronophthisis 9A nephronophthisis that is caused by homozygous mutation in the NEK8 gene on chromosome 17q11.Nephronophthisis-Like Nephropathy 1A nephronophthisis that is caused by homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2.Nephropathia EpidemicaA hemorrhagic fever with renal syndrome that causes infection in kidney, is caused by Orthohantavirus puumalaense, which is transmitted by bank vole, Myodes glareolus. The infection causes headache, causes nausea, causes NephrosisA proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.Nephrotic SyndromeKidney damage causing protein loss in the urine.Nephrotic Syndrome Type 1A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that is caused by homozygous or compound heterozygous mutation in the NPHS1 gene on chromos Nephrotic Syndrome Type 10A familial nephrotic syndrome characterized by early childhood onset that is caused by homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13.Nephrotic Syndrome Type 11A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that is caused by homozygous or compound heterozygous mutation in the NUP107 gene on chromos Nephrotic Syndrome Type 12A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that is caused by homozygous or compound heterozygous mutation i Nephrotic Syndrome Type 13A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that is caused by homozygous mutation in the NUP205 gene on chromosome 7q33.Nephrotic Syndrome Type 15A familial nephrotic syndrome that is caused by homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21.Nephrotic Syndrome Type 16A familial nephrotic syndrome that is caused by homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13.Nephrotic Syndrome Type 17A familial nephrotic syndrome that is caused by by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25.Nephrotic Syndrome Type 18A familial nephrotic syndrome that is caused by by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42.Nephrotic Syndrome Type 19A familial nephrotic syndrome that is caused by compound heterozygous mutation in the NUP160 gene on chromosome 11p11.Nephrotic Syndrome Type 2A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that is caused by homozygous or compound heterozygous mutation in the NPHS2 Nephrotic Syndrome Type 20A familial nephrotic syndrome that is caused by X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males.Nephrotic Syndrome Type 21A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that is caused by homozygous or compound heterozygou Nephrotic Syndrome Type 22A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis Nephrotic Syndrome Type 23A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that is Nephrotic Syndrome Type 24A familial nephrotic syndrome characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. that is caused by homozygous or compound heterozygous mut Nephrotic Syndrome Type 26A familial nephrotic syndrome characterized by onset of proteinuria in the first months or years of life that is caused by homozygous or compound heterozygous mutation in the LAMA5 gene on chromosome 20q13.Nephrotic Syndrome Type 3A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that is caused by homozygous or compound heterozygous mutation in the PLCE1 gene on Nephrotic Syndrome Type 4A familial nephrotic syndrome that is caused by heterozygous mutation in the WT1 gene on chromosome 11p13.Nephrotic Syndrome Type 5A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that is caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromo Nephrotic Syndrome Type 6A familial nephrotic syndrome that is caused by homozygous mutation in the PTPRO gene on chromosome 12p12.Nephrotic Syndrome Type 7A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that is caused by homozygous or compound heteroz Nephrotic Syndrome Type 8A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that is caused by homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25.Nephrotic Syndrome Type 9A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that is caused by homozygous or compound heterozygous mutation in t Nervous System Benign NeoplasmAn organ system benign neoplasm that is in the central nervous system or in the peripheral nervous system.Nervous System CancerAn organ system cancer in the nervous system that affects the central or peripheral nervous system.NESCAV SyndromeAn autosomal dominant intellectual developmental disorder that is caused by an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.Nestor-Guillermo Progeria SyndromeA progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal ab Netherton SyndromeA skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and is caused by mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expre Neu-Laxova Syndrome 1A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca,Neu-Laxova Syndrome 2A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca,Neural Tube DefectA physical disorder characterized by incomplete closure of the neural tube.NeurilemmomaA neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.NeuroacanthocytosisA neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.NeuroaspergillosisAn aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion.Neurobehavioral Disorder with Prenatal Alcohol ExposureA fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social commu NeuroblastomaA cancer of immature nerve cells, mostly in children.Neurocardiorenal Malformation SyndromeA physical disorder characterized by severe developmental delay associated with microcephaly, distinctive facial features, and multiorgan involvement including cardiac and renal malformations that is caused by homozygous Neurocirculatory AstheniaA somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities.Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-OnsetA neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that is caused by homozygous mutation in the SQSTM1 gene on chromosome 5q35.Neurodegeneration with Brain Iron AccumulationA neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia.Neurodegeneration with Brain Iron Accumulation 2aA neurodegeneration with brain iron accumulation that is caused by autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life.Neurodegeneration with Brain Iron Accumulation 2bA neurodegeneration with brain iron accumulation that is caused by autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1.Neurodegeneration with Brain Iron Accumulation 3A neurodegeneration with brain iron accumulation that is caused by autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33.Neurodegeneration with Brain Iron Accumulation 4A neurodegeneration with brain iron accumulation that is caused by autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12.Neurodegeneration with Brain Iron Accumulation 5A neurodegeneration with brain iron accumulation that is caused by X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23.Neurodegeneration with Brain Iron Accumulation 6A neurodegeneration with brain iron accumulation that is caused by autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2.Neurodegenerative DiseaseA central nervous system disease that results in the progressive deterioration of function or structure of neurons.Neurodegenerative Disorder with Cerebellar and Caudate AtrophyAn autosomal dominant intellectual developmental disorder that is characterized by neurodegenerative features, including progressive ataxia, cognitive decline, and neuropathy, and a distinctive neuroradiologic phenotype NeurodermatitisA dermatitis that is characterized by chronic itching or scaling.Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White MatterAn autosomal dominant intellectual developmental disorder characterized by severely delayed psychomotor development apparent from infancy including delayed and difficulty walking, intellectual disability, and absent spee Neurodevelopmental Disorder with Behavioral Abnormalities and Childhood-Onset Spastic ParaplegiaA hereditary spastic paraplegia characterized by mild global developmental delay apparent from infancy, with mildly delayed walking and speech acquisition, mildly impaired intellectual development, behavioral abnormaliti Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic FaciesAn autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early chil Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain AbnormalitiesAn mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and pro Neurodevelopmental Disorder with Cataracts, Poor Growth, and Dysmorphic FaciesA syndrome that is characterized by impaired intellectual development with absent language and short stature and that is caused by homozygous mutation in the INTS1 gene on chromosome 7p22.Neurodevelopmental Disorder with Cerebellar Atrophy and Motor DysfunctionAn autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hyp Neurodevelopmental Disorder with Congenital Cardiac Defects and Variable Renal and Ocular AbnormalitA autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, mildly delayed walking and speech acquisition, impaired intellectual development ranging from learning Neurodevelopmental Disorder with Dysmorphic Facies and Behavioral AbnormalitiesAn autosomal dominant intellectual developmental disorder that is caused by heterozygous mutation in the SRSF1 gene on chromosome 17q22.Neurodevelopmental Disorder with Early-Onset Seizures, Facial Dysmorphism, and Behavioral AbnormalitAn autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development, febrile seizures or epilepsy, facial dysmorphism, and behavioral abnormalities that is caus Neurodevelopmental Disorder with Eye Movement Abnormalities and AtaxiaAn autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that is caused by heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affec Neurodevelopmental Disorder with Hypotonia and Speech DelayA syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that is caused by heterozygous or compound heterozygous mutation in the Neurodevelopmental Disorder with Hypotonia, Epilepsy, and Absent SpeechAn autosomal recessive intellectual developmental disorder characterized by infantile hypotonia, profoundly impaired motor and cognitive development, absent speech, and early-onset seizures that is caused by homozygous o Neurodevelopmental Disorder with Hypotonia, Language Delay, and Skeletal Defects with or Without SeiAn autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay t Neurodevelopmental Disorder with Hypotonia, Stereotypic Hand Movements, and Impaired LanguageAn autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or ab Neurodevelopmental Disorder with Intellectual, Visual, and Language ImpairmentAn autosomal dominant intellectual developmental disorder that is characterized by these cardinal features as well as motor delay, seizures, microcephaly, and dysmorphic features and that is caused by heterozygous mutati Neurodevelopmental Disorder with Involuntary MovementsA movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that is caused by heterozygous mutation of the GN Neurodevelopmental Disorder with Language Delay and SeizuresAn autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that is caused by homozygous or compound heter Neurodevelopmental Disorder with Microcephaly, Absent Speech, and HypotoniaAn autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with a Neurodevelopmental Disorder with Microcephaly, Ataxia, and SeizuresAn autosomal recessive intellectual developmental disorder characterized by global developmental delay and early-onset seizures that is caused by homozygous or compound heterozygous mutation in the SARS1 gene on chromoso Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal AbnormalitiesAn autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that is caused by homozygous mutation of the GEMIN4 gen Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain AtrophyAn autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-on Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical AtrophyAn autosomal recessive intellectual developmental disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth; postnatal progressive microcephaly; and e Neurodevelopmental Disorder with Midbrain and Hindbrain MalformationsA syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that is caused by homozygous m Neurodevelopmental Disorder with Motor and Language Delay, Ocular Defects, and Brain AbnormalitiesAn autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that is caused by homozygous or compound heterozygous mutation in the INTS11 gen Neurodevelopmental Disorder with or Without Autism or SeizuresAn autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show Neurodevelopmental Disorder with Parkinsonism or Other Movement AbnormalitiesAn autosomal recessive intellectual developmental disorder that is characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism Neurodevelopmental Disorder with Poor Growth and Behavioral AbnormalitiesAn autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormali Neurodevelopmental Disorder with Poor Growth, Spastic Tetraplegia, and Hearing LossAn autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that is caused by homozygous mutation in the PSMC1 gene on chromosome 14q32.Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and SeizuresA neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays Neurodevelopmental Disorder with Seizures and Gingival OvergrowthA syndrome characterized by a variable phenotype primarily including seizures, gingival overgrowth, a prominent mandible or cherubism, and mental deterioration that is caused by homozygous or compound heterozygous mutati Neurodevelopmental Disorder with Seizures and Impaired Intellectual and Language DevelopmentAn autosomal recessive intellectual developmental disorder that is characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features and that is caused by homozygou Neurodevelopmental Disorder with Seizures, Hypotonia, and Variable SpasticityAn autosomal recessive intellectual developmental disorder characterized by global developmental delay with limited or no speech, intellectual disability, ataxia-dystonia, and epilepsy that is caused by homozygous mutati Neurodevelopmental Disorder with Short Stature, Prominent Forehead, and Feeding DifficultiesAn diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that is caused by homozygous or compound heterozygous mu Neurodevelopmental Disorder with Spasticity and Poor GrowthAn autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that is caused by homozygous m Neurodevelopmental Disorder with Spasticity, Hypoplasia of the Corpus Callosum, and Recurrent InfectAn autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, failure to thrive with poor overall growth, delayed walking or inability to walk, and Neurodevelopmental Disorder with Spasticity, Thin Corpus Callosum, and Decreased Brain White MatterAn autosomal recessive intellectual developmental disorder characterized by mild to moderate global developmental delay, mildly to moderately impaired intellectual development, and progressive spasticity of the lower lim Neurodevelopmental Disorder with Spastic Paraplegia and MicrocephalyAn amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that is caused by homozygous or com Neurodevelopmental Disorder with Speech Delay and Behavioral AbnormalitiesAn autosomal dominant intellectual developmental disorder characterized by delayed motor, speech, and/or cognitive development beginning in infancy or early childhood and behavioral abnormalities that is caused by hetero Neurodevelopmental Disorder with Speech Delay, Movement Abnormalities, and SeizuresAn autosomal dominant intellectual developmental disorder characterized by motor delay with mildly delayed walking, variably impaired intellectual development with poor or absent speech, behavioral abnormalities, early-o Neurodevelopmental Disorder with Speech Impairment and Dysmorphic FaciesA autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnor Neurodevelopmental Disorder with Structural Brain Abnormalities and Craniofacial AbnormalitiesA congenital nervous system abnormality characterized by ventriculomegaly, cerebellar hypoplasia, corpus callosum agenesis, abnormal head size, and abnormal craniofacial and skeletal defects including bilateral clubfeet Neurodevelopmental Disorder with Variable Motor and Speech ImpairmentAn autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, d Neuroendocrine CarcinomaA carcinoma that arises from neuroendocrine cells.Neuroendocrine TumorA rare tumor arising from hormone-producing cells.NeurofibromatosisA genetic condition that causes tumors to form on nerve tissue.Neurofibromatosis 1A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that is caused by Neurofibromatosis-Noonan SyndromeA RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that is caused by heterozy Neurofibromatosis Type 1A genetic condition causing tumors on nerves.Neurofibromatosis Type 2A genetic condition causing tumors on nerves, especially hearing nerves.Neurogenic Scapuloperoneal Syndrome Kaeser TypeA myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that is caused by heterozygous mutation in DES on chromosome 2q Neurogenic-Type Arthrogryposis Multiplex Congenita-2An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and is cau Neurohypophyseal Diabetes InsipidusA central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that is caused by heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome Neuroleptic Malignant SyndromeA nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blo NeuromaA nervous system benign neoplasm that is characterized as a nerve tissue tumor.Neuromuscular DiseaseA neuropathy that affect the nerves that control the voluntary muscles.Neuromuscular Junction DiseaseA neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.Neuromyelitis OpticaA central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).Neuronal Ceroid Lipofuscinosis 1A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and i Neuronal Ceroid Lipofuscinosis 10A neuronal ceroid lipofuscinosis that is caused by homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.Neuronal Ceroid Lipofuscinosis 11A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and is caused b Neuronal Ceroid Lipofuscinosis 13A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and is caused by Neuronal Ceroid Lipofuscinosis 15A neuronal ceroid lipofuscinosis that is characterized by severe global developmental delay apparent in infancy or early childhood and that is caused by heterozygous mutation in the CLCN6 gene on chromosome 1p36.Neuronal Ceroid Lipofuscinosis 2A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and is caused by homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15.Neuronal Ceroid Lipofuscinosis 3A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and is Neuronal Ceroid Lipofuscinosis 4A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and is caused by h Neuronal Ceroid Lipofuscinosis 5A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual fail Neuronal Ceroid Lipofuscinosis 6AA neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and is caused by ho Neuronal Ceroid Lipofuscinosis 6BA neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy o Neuronal Ceroid Lipofuscinosis 7A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disord Neuronal Ceroid Lipofuscinosis 8A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality diso Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy VariantA neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profi Neuronal Ceroid Lipofuscinosis 9A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seizures.Neuronal Intestinal Dysplasia Type aAn intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine.Neuronal Intestinal Dysplasia Type BAn intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus.Neuronal Intranuclear Inclusion DiseaseA neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and NeuronitisA central nervous system disease that is characterized by neuron inflammation.Neurooculocardiogenitourinary SyndromeA syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that is caused by heterozygous mutation in the WDR3 NeuropathyNerve damage that causes numbness, tingling, or pain. Tracking your symptoms and connecting with others who understand can help you manage day to day.NeuroretinitisAn eye disease that is characterized by inflammation of the retina.NeurosarcoidosisA sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops from a NeuroschistosomiasisA schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system Neurotic DisorderAn anxiety disorder that involves discress but neither delusions nor hallucinations.NeutropeniaAn abnormally low level of neutrophils, raising infection risk.Nevoid Basal Cell Carcinoma SyndromeA syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities.Nevoid Basal Cell Carcinoma Syndrome 1A nevoid basal cell carcinoma syndrome that is caused by heterozygous mutation in the PTCH1 gene on chromosome 9q22.Nevoid Basal Cell Carcinoma Syndrome 2A nevoid basal cell carcinoma syndrome that is caused by heterozygous mutation in the SUFU gene on chromosome 10q24.Newborn Respiratory Distress SyndromeA respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by Newcastle DiseaseA viral infectious disease that causes infection in birds and humans, is caused by Newcastle disease virus (Orthoavulavirus javaense), which is transmitted by contact with feces and urine of an infected bird, or transmit Newfoundland Cone-Rod DystrophyA cone-rod dystrophy that is caused by homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26.Nezelof SyndromeA T cell deficiency that results from the disfunction or underdevelopment of the thymus.NFIA-Related DisorderA syndrome that is caused by heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia.Nickel Allergic AsthmaAn allergic asthma that triggered by nickel atom.Nickel Allergic Contact DermatitisAn allergic contact dermatitis that triggered by nickel atom.Nicolaides-Baraitser SyndromeA syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that is caused by heterozygous mutation in the SMARCA2 Nicotine DependenceA substance dependence that is characterized by a physical dependence on nicotine.Niemann-Pick DiseaseA group of inherited disorders affecting fat metabolism.Niemann-Pick Disease Type aA Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that is caused by an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.Niemann-Pick Disease Type BA Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that is caused by an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.Niemann-Pick Disease Type C1A Niemann-Pick disease that is caused by an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.Niemann-Pick Disease Type C2A Niemann-Pick disease that is caused by an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3.Niemann-Pick Type CA rare metabolic disorder affecting lipid transport.Night BlindnessPoor vision in low light.Night TerrorsEpisodes of screaming and fear during sleep.Nijmegen Breakage SyndromeA syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that is caused by homozygous or compound heterozy Nil-Deshwar Neurodevelopmental SyndromeA syndrome characterized by a range of congenital anomalies and central nervous system dysfunction, including global developmental delay, feeding difficulties, hypotonia, and impaired intellectual development that is cau Nipah Virus EncephalitisA viral infectious disease that causes inflammation in brain, is caused by Nipah virus (Henipavirus nipahense), which is transmitted by direct contact with sick person or animals, or their contaminated tissues. The infec Nipple Benign NeoplasmA breast benign neoplasm that is in the nipple.Nipple CarcinomaA breast carcinoma that is in the nipple.Nipple Duct CarcinomaA nipple carcinoma that is in the nipple duct.NK Cell DeficiencyA primary immunodeficiency disease that results from deficiency in the number or function of CD56+CD3− NK cell in peripheral blood.N,N'-Diethylthiourea Allergic Contact DermatitisAn allergic contact dermatitis that triggered by N,N-diethylthiourea.N,N'-Diphenylthiourea Allergic Contact DermatitisAn allergic contact dermatitis that triggered by N,N-diphenylthiourea.NocardiosisAn opportunistic bacterial infectious disease that causes disseminated infection in immunocompromised hosts, is caused by Nocardia asteroides. The infection causes pneumonia, causes cellulitis, causes lesions in the brai Nocturnal AsthmaA chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle Nodal Marginal Zone LymphomaA marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease.Nodular Basal Cell CarcinomaA basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery.Nodular EpiscleritisA scleral disease that is characterized by painful inflammation with surface nodule formation of the episcleral tissues that, importantly, spares the sclera itself and causes pain, red eyes, photophobia, tearing, blurry Nodular Malignant MelanomaA melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.Nominal AphasiaAn agnosia that involves a severe problem with recalling words or names.Non-Alcoholic SteatohepatitisLiver inflammation and damage from fat buildup.Non-Arteritic Anterior Ischemic Optic NeuropathyAn anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease.Nonautoimmune HyperthyroidismA hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that is caused by heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31.Nonbacterial Thrombotic EndocarditisAn endocarditis that results from the deposition of small sterile vegetations on valve leaflets.Nonepidermolytic Palmoplantar KeratodermaA palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma in palms and in soles.Non-Gestational ChoriocarcinomaA choriocarcicoma that develops in the absence of a preceding gestational event.Non-Gestational Ovarian ChoriocarcinomaAn ovarian primitive germ cell tumor that is caused by trophoblastic cells and develops in the absence of a preceding gestational event.Non-Hodgkin LymphomaA group of lymphomas that don't have Reed-Sternberg cells.Non-Langerhans-Cell HistiocytosisA histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells.Nonmucinous Bronchioloalveolar AdenocarcinomaA bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation.Nonobstructive Coronary Artery DiseaseA coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent.Nonpapillary Renal Cell CarcinomaA hereditary renal cell carcinoma that is caused by a loss of 3p13-pter sequences.Nonparalytic PoliomyelitisA poliomyelitis that results in destruction located in motor neurons, is caused by Human poliovirus 1, is caused by Human poliovirus 2, or is caused by Human poliovirus 3, which are transmitted by ingestion of food or wa Nonphotosensitive TrichothiodystrophyA trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation.Nonphotosensitive Trichothiodystrophy 4A nonphotosensitive trichothiodystrophy that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity is caused by mutations in the TTDN1 gene.Nonphotosensitive Trichothiodystrophy 5A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that is caused by hem Nonphotosensitive Trichothiodystrophy 6A nonphotosensitive trichothiodystrophy that is caused by homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12.Nonphotosensitive Trichothiodystrophy 7A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as Nonphotosensitive Trichothiodystrophy 8A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that is caused by compound hetero Nonphotosensitive Trichothiodystrophy 9A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that is caused by homozygous muta Nonprogressive Cerebellar Ataxia with Mental RetardationAn autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and is caused by autosomal dominant i Non-Proliferative Fibrocystic Change of the BreastA breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia.Non-Severe COVID-19A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19.Non Specific Chronic EndometritisAn endometritis that is present for weeks or more and does not have an identifiable causative organism.Nonspecific Interstitial PneumoniaAn idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammat Non-Suppurative Otitis MediaA otitis media which involves transudation of fluid in the middle ear without pus formation.Nonsyndromic Aplasia Cutis CongenitaA skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that is caused by heterozygous mutation in the BMS1 gene on chromosome 10q11.Nonsyndromic Congenital Nail DisorderA nail disease that is characterized by underdevelopment of nails.Nonsyndromic Congenital Nail Disorder 1A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance.Nonsyndromic Congenital Nail Disorder 2A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges.Nonsyndromic Congenital Nail Disorder 3A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails.Nonsyndromic Congenital Nail Disorder 4A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that is caused by homozygous or compound hete Nonsyndromic Congenital Nail Disorder 5A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment.Nonsyndromic Congenital Nail Disorder 6A nonsyndromic congenital nail disorder that is characterized by partial absences of nails.Nonsyndromic Congenital Nail Disorder 7A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail pla Nonsyndromic Congenital Nail Disorder 8A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only.Nonsyndromic Congenital Nail Disorder 9A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails Nonsyndromic DeafnessAn auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.Non-Syndromic Intellectual DisabilityAn intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.Non-Syndromic X-Linked Intellectual Developmental Disorder 111A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that is caused by hemizygous or heterozygo Non-Syndromic X-Linked Intellectual DisabilityA non-syndromic intellectual disability characterized by a X-linked inheritance pattern.Non-Syndromic X-Linked Intellectual Disability 1A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that is caused by hemizygous or heterozygous Non-Syndromic X-Linked Intellectual Disability 100A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that is caused by hemizygous mutation in the KIF4A gene on chromosome Xq13.1.Non-Syndromic X-Linked Intellectual Disability 101A non-syndromic X-linked intellectual disability characterized by global developmental delay that is caused by hemizygous mutation in the MID2 gene on chromosome Xq22.3.Non-Syndromic X-Linked Intellectual Disability 103A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that is caused by hemizygous mutation in the KLHL15 gene on chromosome Xp22.11.Non-Syndromic X-Linked Intellectual Disability 104A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that is Non-Syndromic X-Linked Intellectual Disability 105A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that is caused by hemizygous mutation in the USP27 Non-Syndromic X-Linked Intellectual Disability 106A non-syndromic X-linked intellectual disability that is caused by hemizygous mutation in OGT on chromosome Xq13.1.Non-Syndromic X-Linked Intellectual Disability 107A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that is caused by heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24.Non-Syndromic X-Linked Intellectual Disability 14A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that is caused by mutation in a region on chromosome Xp11.3-q13.3.Non-Syndromic X-Linked Intellectual Disability 19A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that is caused by hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12.Non-Syndromic X-Linked Intellectual Disability 2A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head an Non-Syndromic X-Linked Intellectual Disability 20A non-syndromic X-linked intellectual disability that is caused by mutation in a region on chromosome Xp11-q21.Non-Syndromic X-Linked Intellectual Disability 21A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that is caused by hemizygous mutation i Non-Syndromic X-Linked Intellectual Disability 23A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that is caused by mutation in a region on chromosome Xq23-q24.Non-Syndromic X-Linked Intellectual Disability 30A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that is caused by hemizygous mutation in the PAK3 gene on chromosome Xq23.Non-Syndromic X-Linked Intellectual Disability 41A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that is caused by heterozygous mutation in the GDI1 gene on chromosome Xq28.Non-Syndromic X-Linked Intellectual Disability 42A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that is caused by mutation in a region on chromosome Xq26.Non-Syndromic X-Linked Intellectual Disability 45A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that is caused by mutation in Non-Syndromic X-Linked Intellectual Disability 46A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that is caused by hemizygous mutation in a region on chromosome Xq25-q26.Non-Syndromic X-Linked Intellectual Disability 50A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that is caused by mutation in a region on chromosome Xp11.3-p11.21.Non-Syndromic X-Linked Intellectual Disability 53A non-syndromic X-linked intellectual disability that is caused by hemizygous mutation in a region on chromosome Xq22.2-q26.Non-Syndromic X-Linked Intellectual Disability 58A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that is caused by hemizygous mutation in the TSPAN7 gene on chromosome Xp11 Non-Syndromic X-Linked Intellectual Disability 63A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that is caused b Non-Syndromic X-Linked Intellectual Disability 72A non-syndromic X-linked intellectual disability that is caused by hemizygous mutation in the RAB39B gene on chromosome Xq28.Non-Syndromic X-Linked Intellectual Disability 73A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that is caused by hemizygous mutation in a region on chromosome Xp22.2.Non-Syndromic X-Linked Intellectual Disability 77A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that is caused by hemizygous mutation in a region on chromosome Non-Syndromic X-Linked Intellectual Disability 81A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that is caused by hemizygous mutation in a region on chromosome Xp11.2-q12.Non-Syndromic X-Linked Intellectual Disability 82A non-syndromic X-linked intellectual disability that is caused by hemizygous mutation in a region on chromosome Xq24-q25.Non-Syndromic X-Linked Intellectual Disability 84A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that is caused by hemizygous mutation in a region on chromosome Xp11.3-q22.3.Non-Syndromic X-Linked Intellectual Disability 88A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that is caused by mutation in a region on chromosome Xq24.Non-Syndromic X-Linked Intellectual Disability 89A non-syndromic X-linked intellectual disability characterized by severe developmental delay that is caused by heterozygous mutation in a region on chromosome Xp11.3.Non-Syndromic X-Linked Intellectual Disability 9A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that is caused by hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23.Non-Syndromic X-Linked Intellectual Disability 90A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that is caused by hemizygous mutation in the DLG3 gene on chromosome Xq13.1.Non-Syndromic X-Linked Intellectual Disability 91A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that is caused by heterozygous mutation in a region on chromosome Xq13.3.Non-Syndromic X-Linked Intellectual Disability 92A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that is caused by hemizygous mutation in a region on chromosome Xp11.3.Non-Syndromic X-Linked Intellectual Disability 93A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that is caused by hemizygous mutation in the BRWD3 gene on chromosome Xq21.1.Non-Syndromic X-Linked Intellectual Disability 96A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that is caused by hemizygous mutation in SYP on chromosome Xp11.23.Non-Syndromic X-Linked Intellectual Disability 97A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that is caused by mutation in the ZNF711 gene on chromosome Xq21.1.Non-Syndromic X-Linked Intellectual Disability 98A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, w Non-Syndromic X-Linked Intellectual Disability 99A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that is caused by hemizygous mutation in the USP9X gene on chromosome Xp11.4.Non-Syndromic X-Linked Intellectual Disability ARX-RelatedA non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that is caused by hemizygous mutation in ARX on chromosome Xp21.3.Noonan SyndromeA genetic disorder causing distinctive features and heart defects.Noonan Syndrome 1A Noonan syndrome that is caused by the PTPN11 gene on chromosome 12q24.Noonan Syndrome 10A Noonan syndrome that is caused by heterozygous mutation in the LZTR1 gene on chromosome 22q11.Noonan Syndrome 11A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that is caused by heterozygous mutation in the MRAS gene on chromoso Noonan Syndrome 12A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that is caused by heterozygous mutation in Noonan Syndrome 13A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that is caused by heterozygous mutation in the MAPK1 gene on chromo Noonan Syndrome 2A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that is caused by homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11.Noonan Syndrome 3A Noonan syndrome that is caused by heterozygous mutation in the KRAS gene.Noonan Syndrome 4A Noonan syndrome that is caused by heterozygous mutation in the SOS1 gene on chromosome 2p22.Noonan Syndrome 5A Noonan syndrome that is caused by mutation in the RAF1 gene.Noonan Syndrome 6A Noonan syndrome that is caused by heterozygous mutation in the NRAS gene on chromosome 1p13.Noonan Syndrome 7A Noonan syndrome that is caused by heterozygous mutation in the BRAF gene.Noonan Syndrome 8A Noonan syndrome that is caused by caused by heterozygous mutation in the RIT1 gene on chromosome 1q22.Noonan Syndrome 9A Noonan syndrome that is caused by heterozygous mutation in the SOS2 gene on chromosome 14q21.Noonan Syndrome-Like Disorder with Loose Anagen HairA RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congen Noonan Syndrome with Multiple LentiginesA RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short statu Noonan Syndrome with Multiple Lentigines 1A Noonan syndrome with multiple lentigines that is caused by heterozygous mutation in the PTPN11 gene on chromosome 12q24.Noonan Syndrome with Multiple Lentigines 2A Noonan syndrome with multiple lentigines that is caused by heterozygous mutation in the RAF1 gene on chromosome 3p25.Noonan Syndrome with Multiple Lentigines 3A Noonan syndrome with multiple lentigines that is caused by heterozygous mutation in the BRAF gene on chromosome 7q34.Normal Pressure HydrocephalusA communicating hydrocephalus characterized by normal cerebrospinal fluid pressure, gait instability, cognitive decline, and impaired bladder control. Onset is usually in late adulthood.Normal Pressure Hydrocephalus 1A normal pressure hydrocephalus that is caused by heterozygous mutation in the CFAP43 gene on chromosome 10q25.Norman-Roberts SyndromeA lissencephaly that is caused by homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.Normocytic AnemiaAn anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL.Normophosphatemic Familial Tumoral CalcinosisA calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors.NorovirusA highly contagious virus causing vomiting and diarrhea.Norrie DiseaseA syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about North Carolina Macular DystrophyA retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that is cause Norwegian ScabiesA scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied NosophobiaA specific phobia that involves an irrational fear of contracting a disease.Notochordal CancerAn embryonal cancer and bone cancer and mesenchymal cell neoplasm that is in the notochord.N SyndromeA syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity.Nuclear Senile CataractA senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging.Nuclear Type Mitochondrial Complex I DeficiencyA mitochondrial complex I deficiency that is caused by mutation in a gene in the nuclear genome.Nuclear Type Mitochondrial Complex I Deficiency 1A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2.Nuclear Type Mitochondrial Complex I Deficiency 10A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1.Nuclear Type Mitochondrial Complex I Deficiency 11A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1.Nuclear Type Mitochondrial Complex I Deficiency 12A nuclear type mitochondrial complex I deficiency that is caused by hemizygous mutation in the NDUFA1 gene on chromosome Xq24.Nuclear Type Mitochondrial Complex I Deficiency 13A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3.Nuclear Type Mitochondrial Complex I Deficiency 14A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3.Nuclear Type Mitochondrial Complex I Deficiency 15A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1.Nuclear Type Mitochondrial Complex I Deficiency 16A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1.Nuclear Type Mitochondrial Complex I Deficiency 17A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1.Nuclear Type Mitochondrial Complex I Deficiency 18A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31.Nuclear Type Mitochondrial Complex I Deficiency 19A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2.Nuclear Type Mitochondrial Complex I Deficiency 2A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2.Nuclear Type Mitochondrial Complex I Deficiency 20A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activ Nuclear Type Mitochondrial Complex I Deficiency 21A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12.Nuclear Type Mitochondrial Complex I Deficiency 22A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3.Nuclear Type Mitochondrial Complex I Deficiency 23A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22.Nuclear Type Mitochondrial Complex I Deficiency 24A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13.Nuclear Type Mitochondrial Complex I Deficiency 25A nuclear type mitochondrial complex I deficiency that is caused by homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1.Nuclear Type Mitochondrial Complex I Deficiency 26A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32.Nuclear Type Mitochondrial Complex I Deficiency 27A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31.Nuclear Type Mitochondrial Complex I Deficiency 28A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11.Nuclear Type Mitochondrial Complex I Deficiency 29A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1.Nuclear Type Mitochondrial Complex I Deficiency 3A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3.Nuclear Type Mitochondrial Complex I Deficiency 30A nuclear type mitochondrial complex I deficiency that is caused by hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3.Nuclear Type Mitochondrial Complex I Deficiency 31A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33.Nuclear Type Mitochondrial Complex I Deficiency 32A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31.Nuclear Type Mitochondrial Complex I Deficiency 33A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2.Nuclear Type Mitochondrial Complex I Deficiency 34A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3.Nuclear Type Mitochondrial Complex I Deficiency 35A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3.Nuclear Type Mitochondrial Complex I Deficiency 4A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2.Nuclear Type Mitochondrial Complex I Deficiency 5A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3.Nuclear Type Mitochondrial Complex I Deficiency 6A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23.Nuclear Type Mitochondrial Complex I Deficiency 7A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22.Nuclear Type Mitochondrial Complex I Deficiency 8A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2.Nuclear Type Mitochondrial Complex I Deficiency 9A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33.Nut AllergyA food allergy that develops from exposure to and particularly consumption of nuts, and causes asthma, skin rashes, throat and eye irritation, and anaphylaxis.NUT Midline CarcinomaA carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;1 Nutritional Deficiency DiseaseA nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.Nutritional Optic NeuropathyAn optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, causes painless bilateral progressive decrease in visual acuity and color perception, and is caused by nuritional deficit Nutrition DiseaseAn acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods.

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