N

N syndrome17 recruitingView → NAD(P)HX dehydratase deficiencyView → NAD(P)HX epimerase deficiencyView → Naegeli-Franceschetti-Jadassohn syndromeView → Nager syndromeView → Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndromeDermatologicalView → Nail anomalyGroupView → Nail-patella syndrome1 recruitingView → Nail-patella-like renal diseaseRenalView → Nakajo-Nishimura syndromeView → NAME syndrome2 recruitingView → Nance-Horan syndromeView → Nanophthalmos5 recruitingOphthalmologicalView → Narcolepsy type 212 recruitingView → Narcolepsy with Cataplexy8 recruitingNeurologicalView → NARP Syndrome3 recruitingMitochondrialView → Nasal dermoid cystView → Nasal dorsum fistulaView → Nasal encephaloceleView → Nasal gangliogliomaOncologyView → Nasal glial heterotopiaNeurologicalView → Nasolacrimal duct cystView → Nasopalpebral lipoma-coloboma syndromeView → Nasopharyngeal carcinoma188 recruitingOncologyView → Nasopharyngeal teratomaView → Nasu-Hakola disease1 recruitingView → Nathalie syndromeView → Native American myopathyNeuromuscularView → Navajo neurohepatopathyView → Naxos diseaseView → NDE1-related microhydranencephalyView → Necrobiosis lipoidicaView → Necrobiotic xanthogranuloma1 recruitingView → Necrotizing cellulitis3 recruitingView → Necrotizing enterocolitis20 recruitingView → Necrotizing fasciitis3 recruitingView → Necrotizing myositis8 recruitingView → Necrotizing soft tissue infection8 recruitingView → NEK9-related lethal skeletal dysplasiaConnective TissueView → Nelson syndromeView → Nemaline Myopathy5 recruitingNeuromuscularView → NEMO deleted exon 5 autoinflammatory syndromeImmuneView → Neonatal acute respiratory distress syndrome41 recruitingView → Neonatal adrenoleukodystrophy13 recruitingNeurologicalView → Neonatal alloimmune neutropeniaBloodView → Neonatal antiphospholipid syndrome4 recruitingView → Neonatal autoimmune hemolytic anemia5 recruitingBloodView → Neonatal brainstem dysfunctionView → Neonatal compartment syndromeView → Neonatal dermatomyositis3 recruitingView → Neonatal diabetes mellitusGroupView → Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndromeRenalView → Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndromeNeuromuscularView → Neonatal epileptic encephalopathy due to glutaminase deficiencyNeurologicalView → Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndromeView → Neonatal glycine encephalopathy1 recruitingNeurologicalView → Neonatal hemochromatosis4 recruitingView → Neonatal ichthyosis-sclerosing cholangitis syndromeDermatologicalView → Neonatal intrahepatic cholestasis due to citrin deficiencyView → Neonatal iodine exposureView → Neonatal lupus erythematosus11 recruitingView → Neonatal Marfan syndrome9 recruitingConnective TissueView → Neonatal neutropenia7 recruitingBloodView → Neonatal renal venous thrombosisRenalView → Neonatal scleroderma7 recruitingView → Neonatal severe cardiopulmonary failure due to mitochondrial methylation defectRespiratoryView → Neonatal severe primary hyperparathyroidismEndocrineView → Nephroblastoma30 recruitingRenalView → Nephrogenic syndrome of inappropriate antidiuresis1 recruitingRenalView → Nephrogenic systemic fibrosisRenalView → Nephronophthisis4 recruitingRenalView → Nephropathy secondary to a storage or other metabolic diseaseRenalGroupView → Nephropathy-deafness-hyperparathyroidism syndromeRenalView → Nephrosis-deafness-urinary tract-digital malformations syndromeRenalView → Nephrotic syndrome without extrarenal manifestationsRenalGroupView → Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndromeRenalView → NESCAV syndromeView → Nestor-Guillermo progeria syndromeView → Netherton Syndrome5 recruitingDermatologicalView → Neu-Laxova syndromeView → Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiencyView → Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiencyView → Neu-Laxova syndrome due to phosphoserine aminotransferase deficiencyView → Neuhauser anomalyView → Neuhauser-Eichner-Opitz syndromeView → Neural tube closure defectGroupView → Neural tube defectGroupView → Neuralgic amyotrophyView → Neurenteric cystView → Neuro-ophthalmological diseaseOphthalmologicalGroupView → NeuroacanthocytosisNeurologicalView → Neuroblastoma109 recruitingOncologyView → Neurocutaneous melanocytosis1 recruitingView → Neurocutaneous syndrome with epilepsyNeurologicalGroupView → Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyNeurologicalView → Neurodegeneration with Brain Iron Accumulation2 recruitingNeurologicalView → Neurodegenerative disease with choreaNeurologicalGroupView → Neurodegenerative disease with dementiaNeurologicalGroupView → Neurodegenerative syndrome due to cerebral folate transport deficiencyNeurologicalView → Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndromeView → Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome1 recruitingView → Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndromeNeurologicalView → Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndromeNeurologicalView → Neurodevelopmental delay-intellectual disability-skeletal defects syndromeView → Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeNeurologicalView → Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome1 recruitingView → Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndromeView → Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionView → Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationView → Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndromeView → Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome1 recruitingNeurologicalView → Neuroectodermal melanolysosomal diseaseView → Neuroectodermal-endocrine syndrome20 recruitingView → Neuroendocrine carcinoma of pancreas94 recruitingEndocrineView → Neuroendocrine cell hyperplasia of infancy1 recruitingEndocrineView → Neuroendocrine neoplasmEndocrineGroupView → Neuroendocrine neoplasm of appendix3 recruitingEndocrineView → Neuroendocrine neoplasm of esophagus34 recruitingEndocrineView → Neuroendocrine neoplasm of pancreasEndocrineGroupView → Neuroendocrine tumor of anal canal2 recruitingEndocrineView → Neuroendocrine tumor of pancreasEndocrineGroupView → Neuroendocrine tumor of stomach66 recruitingEndocrineView → Neuroendocrine tumor of the colon47 recruitingEndocrineView → Neuroendocrine tumor of the rectum13 recruitingEndocrineView → Neuroendocrine tumor of the small intestineEndocrineGroupView → Neuroendocrine tumor with other locationEndocrineGroupView → Neurofaciodigitorenal syndromeRenalView → Neuroferritinopathy1 recruitingView → Neurofibroma53 recruitingView → Neurofibromatosis Type 139 recruitingNeurologicalView → Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionView → Neurofibromatosis Type 216 recruitingNeurologicalView → Neurofibromatosis-Noonan syndrome5 recruitingView → Neurofibromatosis/schwannomatosisGroupView → Neurogenic arthrogryposis multiplex congenitaView → Neurogenic scapuloperoneal syndrome, Kaeser typeView → Neurogenic thoracic outlet syndromeView → Neuroleptic malignant syndrome1 recruitingView → Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defectGroupView → Neurological channelopathy of the central nervous system due to a genetic calcium channel defectGroupView → Neurological channelopathy of the central nervous system due to a genetic chloride channel defectGroupView → Neurological channelopathy of the central nervous system due to a genetic GABA receptor defectGroupView → Neurological channelopathy of the central nervous system due to a genetic glycine receptor defectGroupView → Neurological channelopathy of the central nervous system due to a genetic potassium channel defectGroupView → Neurological channelopathy of the central nervous system due to a genetic sodium channel defectGroupView → Neurological muscular channelopathy due to a genetic calcium channel defectGroupView → Neurological muscular channelopathy due to a genetic chloride channel defectGroupView → Neurological muscular channelopathy due to a genetic potassium channel defectGroupView → Neurological muscular channelopathy due to a genetic ryanodine receptor defectGroupView → Neurological muscular channelopathy due to a genetic sodium channel defectGroupView → NeurolymphomatosisBloodView → Neurometabolic diseaseGroupView → Neurometabolic disorder due to serine deficiencyGroupView → Neuromuscular diseaseGroupView → Neuromuscular disease with dilated cardiomyopathyNeuromuscularGroupView → Neuromuscular junction diseaseGroupView → Neuromyelitis optica spectrum disorder44 recruitingView → Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies1 recruitingView → Neuromyelitis optica spectrum disorder with anti-MOG antibodies2 recruitingView → Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodiesView → Neuronal intestinal pseudoobstruction1 recruitingView → Neuronal intranuclear inclusion disease1 recruitingView → Neurooculocardiogenitourinary syndromeView → Neuropathy with hearing impairment5 recruitingView → Neurotrophic keratopathy12 recruitingView → Neurovascular malformationGroupView → Neutral lipid storage disease with ichthyosis1 recruitingDermatologicalView → Neutral lipid storage disease with myopathy1 recruitingNeuromuscularView → Neutropenia-hyperlymphocytosis with large granular lymphocytes syndromeBloodView → Neutropenia-monocytopenia-deafness syndromeBloodView → NEVADA syndromeView → Nevo syndromeView → Nevus comedonicus syndromeView → Nevus of ItoView → Nevus of OtaView → New-onset refractory status epilepticusNeurologicalView → NFKB1-related immune dysregulationView → Nicolaides-Baraitser syndrome1 recruitingView → Nicolau syndromeView → Niemann-Pick Disease12 recruitingMetabolicView → Niemann-Pick Disease Type C7 recruitingMetabolicView → Niemann-Pick disease type C, adult neurologic onsetMetabolicView → Niemann-Pick disease type C, juvenile neurologic onset2 recruitingMetabolicView → Niemann-Pick disease type C, late infantile neurologic onset2 recruitingMetabolicView → Niemann-Pick disease type C, severe early infantile neurologic onsetMetabolicView → Niemann-Pick disease type C, severe perinatal formMetabolicView → Niemann-Pick disease type DMetabolicView → Night blindness-skeletal anomalies-dysmorphism syndromeView → Nijmegen breakage syndrome1 recruitingView → Nijmegen breakage syndrome-like disorderView → NIK deficiencyView → Nipah virus disease9 recruitingView → NK-cell enteropathy11 recruitingView → NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndromeConnective TissueView → NKX6-2-related autosomal recessive hypomyelinating leukodystrophyNeurologicalView → NLRC4-related familial cold autoinflammatory syndromeImmuneView → NLRP12-associated hereditary periodic fever syndromeView → NMDA receptor encephalitis7 recruitingView → NocardiosisView → NOCARH syndromeView → Nodal marginal zone B-cell lymphoma8 recruitingBloodView → Nodal T-follicular helper cell lymphoma, follicular type5 recruitingBloodView → Nodular cutaneous amyloidosisView → Nodular fasciitisView → Nodular lichen myxedematosusView → Nodular lymphocyte predominant Hodgkin lymphoma2 recruitingBloodView → Nodular neuronal heterotopiaNeurologicalView → Nodular non-suppurative panniculitisView → Nodular regenerative hyperplasia of the liver3 recruitingView → Nodular urticaria pigmentosaView → Nodulosis-arthropathy-osteolysis syndromeView → NomaView → Non progressive epilepsy and/or ataxia with myoclonus as a major featureNeurologicalGroupView → NON RARE IN EUROPE: Acanthosis nigricansView → NON RARE IN EUROPE: Adenocarcinoma of stomachOncologyView → NON RARE IN EUROPE: Adenocarcinoma of the lungOncologyView → NON RARE IN EUROPE: Adolescent idiopathic scoliosisView → NON RARE IN EUROPE: Adrenal incidentalomaRenalView → NON RARE IN EUROPE: Adrenocortical adenomaView → NON RARE IN EUROPE: Age-related macular degenerationOphthalmologicalView → NON RARE IN EUROPE: Aldosterone-producing adenomaView → NON RARE IN EUROPE: Alzheimer diseaseView → NON RARE IN EUROPE: Ankylosing spondylitisView → NON RARE IN EUROPE: Anorexia nervosaView → NON RARE IN EUROPE: Asperger syndromeView → NON RARE IN EUROPE: Atypical arterial ductView → NON RARE IN EUROPE: Atypical moleView → NON RARE IN EUROPE: AutismView → NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgarisDermatologicalView → NON RARE IN EUROPE: Barrett esophagusView → NON RARE IN EUROPE: Benign ductal tumor of breastView → NON RARE IN EUROPE: Benign familial hematuriaView → NON RARE IN EUROPE: Bicuspid aortic valveView → NON RARE IN EUROPE: Bladder cancerView → NON RARE IN EUROPE: Brachydactyly type A3View → NON RARE IN EUROPE: Brachydactyly type DView → NON RARE IN EUROPE: Buschke-Ollendorff syndromeView → NON RARE IN EUROPE: Carpal tunnel syndromeView → NON RARE IN EUROPE: Celiac diseaseView → NON RARE IN EUROPE: Central precocious pubertyView → NON RARE IN EUROPE: Cerebral cavernous malformationsView → NON RARE IN EUROPE: Chronic fatigue syndromeView → NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosisView → NON RARE IN EUROPE: Cirrhotic cardiomyopathyNeuromuscularView → NON RARE IN EUROPE: Cluster headacheView → NON RARE IN EUROPE: Colorectal cancerView → NON RARE IN EUROPE: Common mesenteryView → NON RARE IN EUROPE: Cordiform uterusView → NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndromeView → NON RARE IN EUROPE: Cortisol-producing adrenal tumorRenalView → NON RARE IN EUROPE: Crohn diseaseView → NON RARE IN EUROPE: Dementia with Lewy bodyView → NON RARE IN EUROPE: Diabetes mellitus type 1View → NON RARE IN EUROPE: Eosinophilic esophagitisView → NON RARE IN EUROPE: Essential hypertensionView → NON RARE IN EUROPE: Essential strabismusView → NON RARE IN EUROPE: Exfoliation syndromeView → NON RARE IN EUROPE: Familial combined hyperlipoproteinemiaView → NON RARE IN EUROPE: Familial Dupuytren contractureView → NON RARE IN EUROPE: Familial hypobetalipoproteinemiaView → NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathyNeuromuscularView → NON RARE IN EUROPE: Familial otosclerosisView → NON RARE IN EUROPE: FG syndrome phenotypic spectrumView → NON RARE IN EUROPE: Fibromuscular dysplasia of arteriesView → NON RARE IN EUROPE: FibromyalgiaView → NON RARE IN EUROPE: Gender dysphoriaView → NON RARE IN EUROPE: Gilbert syndromeView → NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiencyView → NON RARE IN EUROPE: GonorrheaView → NON RARE IN EUROPE: HAIR-AN syndromeView → NON RARE IN EUROPE: Hashimoto thyroiditisEndocrineView → NON RARE IN EUROPE: Hemochromatosis type 1View → NON RARE IN EUROPE: Hereditary essential tremorView → NON RARE IN EUROPE: Heterozygous familial hypercholesterolemiaView → NON RARE IN EUROPE: Hidradenitis suppurativaView → NON RARE IN EUROPE: Hippocampal tauopathy in cerebral agingView → NON RARE IN EUROPE: Horseshoe kidneyRenalView → NON RARE IN EUROPE: Hyperkalemic renal tubular acidosisRenalView → NON RARE IN EUROPE: Hyperlipoproteinemia type 4View → NON RARE IN EUROPE: HypodontiaView → NON RARE IN EUROPE: Idiopathic central precocious pubertyView → NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosisView → NON RARE IN EUROPE: Idiopathic facial palsyView → NON RARE IN EUROPE: Idiopathic infantile nystagmusView → NON RARE IN EUROPE: Immunoglobulin A deficiencyView → NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndromeView → NON RARE IN EUROPE: Infantile capillary hemangiomaView → NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiencyView → NON RARE IN EUROPE: Isolated keratoconusView → NON RARE IN EUROPE: Juvenile idiopathic scoliosisView → NON RARE IN EUROPE: Klinefelter syndromeView → NON RARE IN EUROPE: Lactase non-persistence in adulthoodView → NON RARE IN EUROPE: Lichen sclerosusView → NON RARE IN EUROPE: LipedemaView → NON RARE IN EUROPE: Macular telangiectasia type 2OphthalmologicalView → NON RARE IN EUROPE: Maternally-inherited diabetes and deafnessView → NON RARE IN EUROPE: MelanomaView → NON RARE IN EUROPE: Menière diseaseView → NON RARE IN EUROPE: Metabolic syndromeView → NON RARE IN EUROPE: Multiple sclerosisView → NON RARE IN EUROPE: Myopic macular degenerationOphthalmologicalView → NON RARE IN EUROPE: Non rare obesityView → NON RARE IN EUROPE: Non rare thrombophiliaView → NON RARE IN EUROPE: Non-alcoholic fatty liver diseaseView → NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathyView → NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiencyRenalView → NON RARE IN EUROPE: Non-papillary transitional cell carcinoma of the bladderOncologyView → NON RARE IN EUROPE: Non-small cell lung cancerView → NON RARE IN EUROPE: Normal pressure hydrocephalusView → NON RARE IN EUROPE: Obesity due to MC3R deficiencyView → NON RARE IN EUROPE: Oral erosive lichenView → NON RARE IN EUROPE: Paget disease of boneView → NON RARE IN EUROPE: Parkinson diseaseNeurologicalView → NON RARE IN EUROPE: Partial color blindness, deutan typeView → NON RARE IN EUROPE: Partial color blindness, protan typeView → NON RARE IN EUROPE: Patent arterial ductView → NON RARE IN EUROPE: Patent foramen ovaleView → NON RARE IN EUROPE: PericarditisView → NON RARE IN EUROPE: Perineural cystView → NON RARE IN EUROPE: Pernicious anemiaBloodView → NON RARE IN EUROPE: Peyronie syndromeView → NON RARE IN EUROPE: Pigment-dispersion syndromeView → NON RARE IN EUROPE: Polycystic ovary syndromeView → NON RARE IN EUROPE: Polymyalgia rheumaticaView → NON RARE IN EUROPE: Primary adult open-angle glaucomaView → NON RARE IN EUROPE: Primary bile acid malabsorptionView → NON RARE IN EUROPE: Primary ovarian failureView → NON RARE IN EUROPE: Pseudoarylsulfatase A deficiencyView → NON RARE IN EUROPE: Psoriatic arthritisView → NON RARE IN EUROPE: Recurrent acute pancreatitisView → NON RARE IN EUROPE: Rheumatoid arthritisView → NON RARE IN EUROPE: Scheuermann's diseaseView → NON RARE IN EUROPE: SchizophreniaView → NON RARE IN EUROPE: Secondary central precocious pubertyView → NON RARE IN EUROPE: Secondary Sjögren syndromeView → NON RARE IN EUROPE: Sjögren syndromeView → NON RARE IN EUROPE: Solitary renal cystRenalView → NON RARE IN EUROPE: Specific language impairmentView → NON RARE IN EUROPE: StuccokeratosisView → NON RARE IN EUROPE: Sudden infant death syndromeView → NON RARE IN EUROPE: TaurodontismView → NON RARE IN EUROPE: Thyroglossal duct cystView → NON RARE IN EUROPE: Tourette syndromeView → NON RARE IN EUROPE: TrimethylaminuriaView → NON RARE IN EUROPE: Trochlear dysplasiaView → NON RARE IN EUROPE: Ulcerative colitisView → NON RARE IN EUROPE: Unexplained intellectual disabilityView → NON RARE IN EUROPE: Ventral herniaView → NON RARE IN EUROPE: Ventricular septal defectView → NON RARE IN EUROPE: VitiligoView → NON RARE IN EUROPE: Wernicke encephalopathyNeurologicalView → NON RARE IN EUROPE: Wolff-Parkinson-White syndromeNeurologicalView → Non-24-hour sleep-wake syndromeView → Non-acquired combined pituitary hormone deficiencies without extrapituitary malformationsEndocrineGroupView → Non-acquired combined pituitary hormone deficiencyEndocrineGroupView → Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromeEndocrineView → Non-acquired isolated growth hormone deficiency3 recruitingView → Non-acquired panhypopituitarismView → Non-acquired pituitary hormone deficiencyEndocrineGroupView → Non-amyloid fibrillary glomerulopathy2 recruitingRenalView → Non-amyloid monoclonal immunoglobulin deposition diseaseView → Non-central nervous system-localized embryonal carcinoma1 recruitingOncologyView → Non-classic congenital lipoid adrenal hyperplasia due to STAR deficencyRenalView → Non-distal deletion 10q syndromeView → Non-distal deletion 12q syndromeView → Non-distal duplication 10q syndromeView → Non-distal duplication 13q syndromeView → Non-distal duplication 9q syndromeView → Non-dystrophic myopathyNeuromuscularGroupView → Non-eruption of teeth-maxillary hypoplasia-genu valgum syndromeView → Non-familial dilated cardiomyopathyNeuromuscularGroupView → Non-familial hypertrophic cardiomyopathyNeuromuscularGroupView → Non-familial rare disease with dilated cardiomyopathyNeuromuscularGroupView → Non-familial restrictive cardiomyopathyNeuromuscularGroupView → Non-fibrotic hypersensitivity pneumonitisView → Non-functioning neuroendocrine tumor of pancreas3 recruitingEndocrineView → Non-functioning paragangliomaEndocrineView → Non-functioning pituitary adenoma1 recruitingEndocrineView → Non-genetic cardiac rhythm diseaseGroupView → Non-genetic central precocious puberty in maleView → Non-genetic systemic disease with glomerulopathy as a major featureRenalGroupView → Non-hereditary congenital primary lymphedemaView → Non-hereditary degenerative ataxiaNeurologicalGroupView → Non-hereditary late-onset primary lymphedemaView → Non-hereditary retinoblastoma3 recruitingOncologyView → Non-Hodgkin lymphomaBloodGroupView → Non-hypoproteinemic hypertrophic gastropathyView → Non-immune hydrops fetalis1 recruitingView → Non-infectious anterior uveitisGroupView → Non-infectious posterior uveitisGroupView → Non-inflammatory vasculopathyGroupView → Non-insulinoma pancreatogenous hypoglycemia syndromeView → Non-involuting congenital hemangiomaView → Non-malignant and non-cirrhotic portal vein thrombosisView → Non-paraneoplastic sensory ganglionopathyView → Non-polyposis Turcot syndrome1 recruitingView → Non-progressive cerebellar ataxia with intellectual disability1 recruitingNeurologicalView → Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyNeurologicalView → Non-recovering obstetric brachial plexus lesionView → Non-saccular limited dorsal myeloschisisView → Non-seminomatous germ cell tumor of testis1 recruitingView → Non-specific autoimmune brainstem encephalitis with characteristic antibodiesImmuneView → Non-specific autoimmune brainstem encephalitis without characteristic antibodiesImmuneView → Non-specific autoimmune cerebellar ataxia with characteristic antibodiesNeurologicalView → Non-specific autoimmune cerebellar ataxia without characteristic antibodiesNeurologicalView → Non-specific autoimmune supratentorial encephalitis with characteristic antibodiesImmuneView → Non-specific autoimmune supratentorial encephalitis without characteristic antibodiesImmuneView → Non-specific early-onset epileptic encephalopathyNeurologicalView → Non-specific interstitial pneumoniaView → Non-specific syndromic intellectual disabilityView → Non-spherocytic hemolytic anemia due to hexokinase deficiencyBloodView → Non-syndromic agammaglobulinemiaImmuneView → Non-syndromic anal stenosis1 recruitingView → Non-syndromic anorectal malformation without fistulaView → Non-syndromic bicoronal and metopic craniosynostosisView → Non-syndromic bicoronal and sagittal craniosynostosisView → Non-syndromic bicoronal craniosynostosisView → Non-syndromic bilambdoid and sagittal craniosynostosisView → Non-syndromic bilambdoid craniosynostosisView → Non-syndromic bridging bronchusRespiratoryView → Non-syndromic central nervous system malformationGroupView → Non-syndromic cerebral malformationGroupView → Non-syndromic cerebral malformation due to abnormal neuronal migrationGroupView → Non-syndromic cloacal malformationView → Non-syndromic complete hemimeliaGroupView → Non-syndromic complex polydactylyGroupView → Non-syndromic congenital bronchial atresiaRespiratoryView → Non-syndromic congenital phagocyte functional defectGroupView → Non-syndromic diaphragmatic or abdominal wall malformationGroupView → Non-syndromic diaphragmatic or thoracic malformationGroupView → Non-syndromic esophageal malformationGroupView → Non-syndromic gastroduodenal malformationGroupView → Non-syndromic H-type fistulaView → Non-syndromic intestinal malformationGroupView → Non-syndromic joint formation defectsGroupView → Non-syndromic limb malformationGroupView → Non-syndromic limb overgrowthGroupView → Non-syndromic limb reduction defectGroupView → Non-syndromic longitudinal limb defectGroupView → Non-syndromic male infertility due to sperm motility disorderView → Non-syndromic metopic and sagittal craniosynostosisView → Non-syndromic metopic craniosynostosisView → Non-syndromic non-specific multisutural craniosynostosisView → Non-syndromic pansynostosisView → Non-syndromic perineal fistulaView → Non-syndromic polydactylyGroupView → Non-syndromic polydactyly, syndactyly and/or hyperphalangyGroupView → Non-syndromic postaxial polydactylyGroupView → Non-syndromic posterior hypospadiasView → Non-syndromic pouch colonView → Non-syndromic preaxial polydactylyGroupView → Non-syndromic rectal atresia1 recruitingView → Non-syndromic rectal stenosis1 recruitingView → Non-syndromic rectourethral fistulaView → Non-syndromic rectourethral fistula, bulbar typeView → Non-syndromic rectourethral fistula, prostatic typeView → Non-syndromic rectovaginal fistulaView → Non-syndromic rectovesical fistulaView → Non-syndromic renal or urinary tract malformationRenalGroupView → Non-syndromic respiratory or mediastinal malformationGroupView → Non-syndromic sagittal craniosynostosisView → Non-syndromic syndactylyGroupView → Non-syndromic terminal transverse limb defectGroupView → Non-syndromic unicoronal and sagittal craniosynostosisView → Non-syndromic unicoronal craniosynostosisView → Non-syndromic unifrontosphenoidal craniosynostosisView → Non-syndromic unilambdoid craniosynostosisView → Non-syndromic unisquamosal craniosynostosisView → Non-syndromic urogenital tract malformationGroupView → Non-syndromic urogenital tract malformation of femaleGroupView → Non-syndromic urogenital tract malformation of maleGroupView → Non-syndromic urogenital tract malformation of male and femaleGroupView → Non-syndromic uterovaginal malformationGroupView → Non-syndromic vestibular fistulaView → Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleenGroupView → Non-terminal myelocystoceleView → Non-transplant-related bronchiolitis obliterans1 recruitingRespiratoryView → Noonan Syndrome14 recruitingConnective TissueView → Noonan syndrome and Noonan-related syndromeGroupView → Noonan syndrome with multiple lentigines1 recruitingView → Noonan syndrome-like disorder with juvenile myelomonocytic leukemiaBloodView → Noonan syndrome-like disorder with loose anagen hairView → Normokalemic periodic paralysisView → Normosmic congenital hypogonadotropic hypogonadismView → Norrie diseaseView → North Carolina macular dystrophyOphthalmologicalView → Northern epilepsy1 recruitingNeurologicalView → Nose and cavum anomalyGroupView → NPHP3-related Meckel-like syndromeView → NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbanceView → NTHL1-related polyposisView → Null pituitary adenomaEndocrineView → Null syndrome2 recruitingView → NUT midline carcinoma7 recruitingOncologyView → OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndromeRetired termView → OBSOLETE: Neonatal epilepsy syndromeNeurologicalRetired termView → OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiencyRenalRetired termView → OBSOLETE: Nervous system anomaly with eye involvementRetired termView → OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndromeRenalRetired termView → OBSOLETE: Neuroendocrine tumor of small intestineEndocrineRetired termView → OBSOLETE: NeuroepitheliomaRetired termView → OBSOLETE: NeurofibromatosisRetired termView → OBSOLETE: Neurogenic palpebral tumorRetired termView → OBSOLETE: Neurological channelopathyRetired termView → OBSOLETE: Neurosensory deafness-pituitary dwarfism syndromeEndocrineRetired termView → OBSOLETE: Niemann-Pick disease type EMetabolicRetired termView → OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bonesRetired termView → OBSOLETE: Non-distal monosomy 20qRetired termView → OBSOLETE: Non-distal monosomy 7pRetired termView → OBSOLETE: Non-dystrophic myopathy with collagen 6 anomalyNeuromuscularRetired termView → OBSOLETE: Non-herpetic acute limbic encephalitisRetired termView → OBSOLETE: Non-idiopathic juvenile arthritisRetired termView → OBSOLETE: Non-paraneoplastic limbic encephalitisRetired termView → OBSOLETE: Non-pore-loop channelopathyRetired termView → OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomalyRetired termView → OBSOLETE: Non-pore-loop channelopathy due to Cl- channel Clc2 anomalyRetired termView → OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomalyRetired termView → OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomalyRenalRetired termView → OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter Clc7anomalyRetired termView → OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomalyRenalRetired termView → OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomalyRetired termView → OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomalyRetired termView → OBSOLETE: Non-pore-loop channelopathy involved in other renal tubular disorderRenalRetired termView → OBSOLETE: Non-pore-loop channelopathy involved in several types of epilepsyNeurologicalRetired termView → OBSOLETE: Non-progressive congenital heart blockRetired termView → OBSOLETE: Non-secreting chemodectomaRetired termView → OBSOLETE: Non-syndromic developmental defect of the eyeRetired termView → OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major featureRetired termView → OBSOLETE: Not NOTCH3-related small vessel disease of the brainRetired termView → OBSOLETE: Nuclear cell envelopathyRetired termView → OBSOLETE: Nuclear oculomotor paralysisRetired termView →